World Congress of

Pediatric Gastroenterology,

Hepatology and Nutrition

 

 

October 5 – 8, 2016

 

Montreal, QC

CANADA

 

Clinical Case Report Abstracts

FISPGHAN Member Societies:




Thursday, October 6, 2016

 

POSTER SESSION I12:00 – 2:00 PM

CELIAC AND OTHER LUMINAL DISORDERS

ENDOSCOPY

GLOBAL HEALTH

HEPATOLOGY

INFLAMMATORY BOWEL DISEASE

NEUROGASTROENTEROLOGY AND MOTILITY

NUTRITION AND INTESTINAL REHABILITATION

TRANSPLANTATION

Friday, October 7, 2016

 

POSTER SESSION I12:00 – 2:00 PM

CELIAC AND OTHER LUMINAL DISORDERS

ENDOSCOPY

GLOBAL HEALTH

HEPATOLOGY

INFLAMMATORY BOWEL DISEASE

NEUROGASTROENTEROLOGY AND MOTILITY

NUTRITION AND INTESTINAL REHABILITATION

PANCREATOLOGY

Saturday, October 8, 2016

 

POSTER SESSION I12:00 – 2:00 PM

CELIAC AND OTHER LUMINAL DISORDERS

ENDOSCOPY

HEPATOLOGY

INFLAMMATORY BOWEL DISEASE

NEUROGASTROENTEROLOGY AND MOTILITY

NUTRITION AND INTESTINAL REHABILITATION

PANCREATOLOGY




Thursday, October 6, 2016

 

POSTER SESSION I

12:00 – 2:00 PM

 

CELIAC AND OTHER LUMINAL DISORDERS

 

PEUTZ-JEGHERS SYNDROME PRESENTING WITH BOTH INTUSSUSCEPTION AND VOLVULUS IN TWO ADOLESCENT SIBLINGS

Alejandro Llanos-Chea, Amir Kagalwalla, Sana Syed, John H. Stroger, Jr., Hospital of Cook County, Chicago, Illinois, USA

Background: Peutz-Jeghers Syndrome (PJS) is an autosomal dominant condition characterized by mucocutaneous pigmentation and by the development of characteristic polyps throughout the gastrointestinal tract. Its estimated incidence is between 1 in 50,000 to 200,000 live births.

Case Nº1: Twelve year-old Hispanic female with a three-week history of periumbilical abdominal pain associated with multiple episodes of non-bilious non-bloody emesis. The patient had multiple hyperpigmented macules over her lips. Her abdomen was non-distended with moderate tenderness. CT scan demonstrated a large dilated loop of small bowel measuring 6.3 cm in the midline anterior abdomen with telescoping of small bowel within it. Exploratory laparotomy found intussusception with volvulus secondary to small bowel polyps. Histopathology showed infarcted hamartomatous polyps consistent with PJS.

Case Nº2: Sixteen year-old Hispanic male, sibling of case #1, presented with acute onset worsening lower abdominal. Patient had a prior intussusception due to polyps requiring surgical reduction. Abdominal examination demonstrated right lower quadrant tenderness. An abdominal CT scan suggested ileocecal intussusception with a 2.1 cm hyperechoic mass. Exploratory laparotomy identified a volvulus over the near distal ileum with necrotic bowel on either side. An ileocecal intussusception was also identified 10 cm distally to the volvulus. Resected ileum and cecum contained multiple polyps that were consistent with PJS.

Discussion: Gastrointestinal hamartomatous polyps are a distinctive feature of PJS. The polyps are pedunculated and contain smooth muscle proliferation that extends into the lamina propria in a frond-like pattern. Polyps range in size from a few millimeters up to 7 cm and most commonly occur in the small intestine (96%), colon (27%), stomach (24%), and rectum (24%).

Intussusception is the primary complication of small bowel polyps. The cumulative intussusception risk is 15% by age 10 years and 50% by age 20 in PJS. Around 80% of intussusceptions present as an acute abdomen and the average polyp size responsible for this complication is 3.5 cm.

Small bowel intussusception complicated by volvulus in children has been previously reported in children but not in children with PJS. Of the 6 reported cases in the literature, 2 were idiopathic and 4 had an identified anatomical lead point.

Our two siblings are the first two cases of confirmed PJS presenting with both intussusception and volvulus. The likely mechanism for volvulus, a novel observation, is that the intussusception acted as a lead point for peristalsis to generate twisting of a specific portion of the small bowel causing segmental volvulus.

These cases highlight the importance for prompt diagnosis of PJS that would lead to timely screening and prevention of complications including intussusception and volvulus.

 

LYMPHOCYTIC COLITIS IN AN 18 MONTH-OLD WITH CHRONIC DIARRHEA

Arieda Gjikopulli, Hadeel Al-Atrash, Zarela Molle-Rios, Nemours, AI duPont Hospital for Children, Wilmington, DE, USA

Lymphocytic colitis (LC), a form of microscopic colitis, is well-described in adults but rarely seen in children. Hereby we present the youngest case reported, diagnosed at 18 months of age.

A 16-month-old female presented with chronic, voluminous, watery, non-bloody diarrhea since the age of 3 months. Trial of elemental formula and low fructose/high fat diet had not been helpful. Although her weight for length was around the 3rd percentile there was no weight loss, abdominal pain or decreased appetite. Stool testing was negative for infectious agents and showed normal fecal calprotectin, stool electrolytes, fecal fat and alpha1 antitrypsin levels. There was no evidence of anemia, leukocytosis or elevated inflammatory markers. She underwent an upper endoscopy with flexible sigmoidoscopy at 18 months of age that was grossly normal with normal disaccharidase levels. Colonic biopsies showed active inflammation with increased intraepithelial lymphocytes, eosinophils with focal clustering and degranulation and rare neutrophils. Following biopsies further testing including celiac serology, comprehensive allergy-immunology work up and enterocyte antibodies were normal. Based on this, she was diagnosed with lymphocytic colitis and hence she was started on sulfasalazine (60 mg/kg/day) without clinical improvement. Thus, she was started on budesonide 6 mg daily for 6 weeks and has been asymptomatic for the past 7 months.
LC is a subtype of microscopic colitis. It is characterized by colonic inflammation (>20 intraepithelial lymphocytes per 100 colonocytes with mixed inflammation of the lamina propria and normal crypt architecture) with normal endoscopic appearance. Current pediatric literature on LC is limited to a few case reports and case series. A female predominance has been noted. The youngest reported case is two years of age.

LC should be considered in all cases of chronic diarrhea of unknown etiology. Other symptoms include weight loss, abdominal pain and vomiting. In a recent retrospective review of 10 pediatric patients, 80% of cases were associated with lactase deficiency. Laboratory markers are usually not helpful in making the diagnosis.

Treatment options for LC include budesonide, mesalamine, corticosteroids and bismuth subsalicylate. Often, budesonide is favored over prednisone due to its favorable safety profile. Response rates to steroids have been reported to be higher than mesalamine in children.

Limited by the number of pediatric cases, the causes and associations of LC are poorly defined. However, there has been a strong association with celiac disease, autoimmune disorders, immunodeficiency, infection and medications.

Although LC is a rare cause of intractable diarrhea in pediatrics, it should be considered in the differential. To our knowledge this 18- month-old toddler is the youngest patient reported in literature.

 

 

LYMPHOGRANULOMA VENEREUM: A RARE CAUSE OF PROCTITIS IN A TEENAGER

Diana Lerner, Alfanso Martinez, Wendi Ehrman, Medical College of Wisconsin, Milwaukee, WI, USA

17-year-old male with history of skicle sickle cell anemia and gender dysphoria who presents with chronic hematochezia for 5 months. He reported increased stool frequency to 3 - 4 bowel movements per day that are soft-formed with small flecks of blood, enough to stain lightly the water of the toilet. The blood is noted to be mixed within the stool in small amount and some painful defecation despite soft stool. There was some tenesmus but no night time defecation. Patient underwent upper and lower endoscopy. EGD was concerning for candida esophagitis and the rectum appeared nodular, edematous, erythematous, friable and there were exudates. Rectal aspirate was sent for bacterial and viral cultures which yielded the diagnosis of Lymphogranuloma venereum secondary to chlamydia trachomatis. He was treated with Fluconaozle and Doxycycline 100 mg BID for 21 days and symptoms improved. He was referred to adolescent medicine clinic where he underwent a full evaluation for STDs and was found to be negative for HIV, Syphilis, Hepatitis C, B, and Gonorrhea. He also later admitted being treated for a chlamydia infection which was found in the urine 6 months prior to presentation. He reported having had only one sexual male partner but denied receptive intercourse.

Chlamydia trachomatis is a rare cause of proctitis in a pediatric patient and requires a high degree of suspicion at the time of endoscopy to make the diagnosis. If not treated promptly it can cause irreversible damage and lead to a rectal stricture. A comprehensive work-up for other sexually-transmitted diseases is warranted given their frequent comorbidity.

 

10  EOSINOPHILIC ESOPHAGITIS PRESENTING AS NUTRITIONAL RICKETS

Margaret Connolly1, Garrett Zella2, Marcella Radano2, Khoa Tran2, Jyoti Ramakrishna2, 1Tufts University School of Medicine, Boston, MA, USA, 2Floating Hospital for Children at Tufts Medical Center, Boston, MA, USA

Introduction: Eosinophilic esophagitis (EoE) may present with vastly different symptoms depending on age, including failure to thrive, vomiting, food impaction, and GERD symptoms. The effects of EoE may lead to feeding dysfunction and therefore cause vitamin deficiencies.

Case: A two-year-old girl presented to her pediatrician with one week of non-bilious vomiting and weight loss. ROS otherwise revealed a loss of 1 kg over 3 weeks. Upon admission, she was noted to be small for her age with thin extremities and little muscle mass. She had bilateral symmetric bowing of her legs and splaying of her wrists. She did not walk but instead crawled in a hopping motion, bringing both legs forward at the same time. She was unable to stand with or without assistance. Labs revealed calcium 7.5 (8.7-9.8), ionized calcium 3.9 (4.2-5.2), phosphorus 1.5 (3.8-6.5), parathyroid hormone 1228 (11-95), vitamin D 25OH of 5, and alkaline phosphorus 1714. Radiographs revealed widening of the proximal and distal femurs, tibia, sacroiliac joints, and distal radial physes, metaphyseal cupping and fraying at the femurs, tibia, radius and ulna, and decreased bone mineralization – all concerning for rickets. Further history revealed that she was born at 39 weeks and had only eczema and speech and gross motor delay. She sat at 9-10 months, crawled at 11 months, and had not yet pulled to stand. She spoke about 10 single words. She had been growing normally until about 10 months of age when she stopped breast feeding. She then developed a rigid diet consisting of mainly blended water and rice. Otherwise she ate only occasional chicken, oatmeal, juice, and water. Further evaluation was negative for celiac disease and thyroid abnormalities. Serum amino acids, lactate, pyruvate, ammonia, and urine organic acids were normal. Brain and spine MRI performed to evaluate for microcephaly were normal. Endoscopy performed after she continued to refuse most solid foods while on lansoprazole revealed esophageal white patches with longitudinal furrows and biopsies with 47 eosinophils per high power field in the distal esophagus, 29 in the mid esophagus, and 14 in the proximal esophagus, supporting EoE. Oral budesonide, vitamin supplementation, elemental formula, cyproheptadine, and erythromycin eventually led to improvement.

Discussion: Various vitamin deficiencies have been reported with intentional elimination of milk products to treat milk-protein allergy, and feeding dysfunction and failure to thrive have been described in children with eosinophilic disorders – but, to our knowledge, no case of rickets has been reported as the presenting feature of EoE. Here the patient developed maladaptive feeding behaviors and refused solid foods and milk likely as a result of EoE, leading to severe vitamin D deficiency. Healthcare providers should add rickets to a growing list of feeding-related issues and nutritional deficiencies found to be related to EoE.

 

11  TELEPRACTICE FOR FEEDING DYSFUNCTION IN CHILDREN WITH EOSINOPHILIC ESOPHAGITIS

Holly Knotowicz1, Glenn Furuta2, Joanne Newton1, Dan Atkins2, Angela Haas1,1Children’s Hospital Colorado, Aurora, CO, USA, 2University of Colorado School of Medicine, Aurora, CO, USA

Background: Eosinophilic esophagitis (EoE) is a chronic disease characterized by esophageal eosinophilia and feeding dysfunction. Sometimes, feeding dysfunction persists despite resolution of inflammation and feeding therapy is beneficial especially if when home-based. With the increasing prevalence of EoE, a number of patients may live where access to feeding therapy is not available.

Methods: We report our experiences with two patients who successfully received feeding therapy by video-based telemedicine or Telepractice, while they were in their home setting. Telepractice sessions were conducted in a secure fashion with specific requests individualized for their child with one or two caregivers present, specific foods and mealtime setup. Progress was tracked with: 1.) Behavioral Pediatrics Feeding Assessment Scale (BPFAS) - a validated parental report measure of children’s mealtime behaviors and parent feelings regarding mealtimes; abnormal scores - Total Frequency Score > 84 and Total Problem Score > 9 and 2.) Food Frequency Questionnaire (FFQ)-Care provider record of number of foods consumed. Therapy was provided by the same feeding therapist for both patients.

Case #1: A one-year-old male with EoE presented with vomiting and feeding dysfunction. Symptoms improved on topical steroids but feeding problems persisted. Intensive feeding treatment was recommended but distance to travel (2000 miles) and lack of local resources prompted use of Telepractice. Over the course of therapy (22 sessions, average 1/week over 7 months), BPFAS Total Frequency and Problem scores improved (143 to 66 and 33 to 3 respectively, pre-post treatment). Feeding difficulties that decreased included picky eating, food refusal and stalling. Parent problems that decreased included frustration, need to use coaxing/threats, making alternative meals and disagreements with other caregivers regarding approach to the child. FFQ revealed improvement from 1 to 20 foods.

Case #2: A two-year-old male with EoE presented with symptoms of feeding dysfunction and malnutrition that were significant enough to warrant gastrostomy tube placement. Following treatment with topical steroids, symptoms improved and his mucosa normalized. Feeding dysfunction persisted and intensive feeding treatment was recommended but distance to travel (65 miles) and lack of local resources prompted use of Telepractice. Over the course treatment (9 sessions, 1 / 3 weeks over 6 months) all BPFAS Total Frequency and Problem scores improved (88 to 70 and 6 to 2 respectively, pre-post treatment). Specific behavioral feeding difficulties as well as parent-endorsed problems decreased as describe in Case #1. FFQ revealed improvement from 55 foods to 64 foods. Removal of Gtube is under consideration because of growth acceleration and tolerance of feeding.

Conclusion: Our findings support Telepractice to provide a cost-effective, time-efficient and convenient “home-based” treatment for children with EoE and feeding dysfunction.

 

12  MILK PROTEIN ALLERGY, CHRONIC DIARRHEA, FAILURE TO THRIVE CURED BY SURGERY

Vivek Shenoy1, Jyoti Ramakrishna2, Christina Coleman2, Julia Aquino2, Jason Law2, Carl-Christian Jackson2, Marcella Radano2, 1Emerson Hospital, Boston, MA, USA, 2Floating Hospital for Children at Tufts Med Ctr, Boston, MA, USA

A 12-month-old male with failure to thrive was admitted with chronic diarrhea, and hypokalemic metabolic acidosis. Past history was significant for 2 admissions for diarrhea and poor weight gain. At his first admission at 1 month of age, he was 20% below birth weight. Work-up revealed normal CBC and chemistries along with negative hepatitis screen, CMV, EBV, stool culture, and stool occult blood. An ultrasound of the abdomen was normal. After starting hydrolyzed formula, his stooling improved and he gained weight with a discharge diagnosis of milk protein allergy. At 10 months of age, he was admitted with a six-week history of watery diarrhea and hypokalemia. He also was noted to have an intermittent erythematous macular rash on his chest and face. Stool studies including C-difficile, stool culture, parasites, rotavirus, and occult blood were negative. Endoscopy and colonoscopy showed chronic gastritis and eosinophilia of the sigmoid and rectum, consistent with an allergic process. He was transitioned to an amino acid based formula, had improvement in symptoms, and was discharged. At his 12-month well child check, he had had no weight gain for 3 months, worsening diarrhea and abdominal distension, and was readmitted. Stool studies were again negative for infectious etiologies. Immunglobulin levels and stool studies for malabsorption were normal. HIV and CF testing were negative. He was noted to have persistent secretory diarrhea this admission. An abdominal ultrasound to evaluate for intra-abdominal mass revealed decreased systolic flow to the kidneys. A follow-up abdominal MRA showed a heterogeneous mass of the right adrenal gland. Serum VIP was elevated at >200 pg/mL. Diarrhea had increased and it was difficult to keep up with fluid and electrolyte replacement. He was taken to the OR for removal of the adrenal mass. Pathology showed a localized differentiating neuroblastoma with positive VIP stain. His diarrhea resolved immediately after removal of the mass.

Discussion: Chronic diarrhea in young children can pose a diagnostic dilemma given its broad differential. Chronic diarrhea is a rare presentation of neuroblastoma and is a paraneoplastic syndrome secondary to VIP secretion. VIP secreting neuroblastomas are less differentiated than ganglioneuromas and ganglioneuroblastomas, the other VIP-secreting members of the neuroblastoma family. However, all three are most often treated with surgical resection alone and rarely require chemotherapy. In this particular case, the concomitant diagnosis of milk-protein allergy with eosinophilic proctocolitis confounded the diagnosis. There is no reported association between milk protein allergy/allergic proctocolitis and neuroblastoma.

 

13  FAMILY TIES: A CASE SERIES OF A FATHER AND HIS 6 CHILDREN WITH EOSINOPHILIC ESOPHAGITIS

Matthew Heisel, Steve Min, Fouad Moawad, Laura Malchodi, Walter Reed National Military Medical Center, Bethesda, MD, USA

Background: Eosinophilic esophagitis (EoE) causes significant upper gastrointestinal morbidity in adults and children with a prevalence of approximately 50/100,000 in the United States. It is a highly heritable disease with a non-Mendelian inheritance pattern, suggesting the majority of phenotypic variation is genetic in origin. Genome-wide association studies have revealed 5 susceptibility loci which appear to predispose individuals to EoE. Here we present a family in which the father and 6 of his 8 children are affected with EoE.

Methods: All family members were evaluated in the adult and pediatric gastroenterology clinics of Walter Reed National Military Medical Center from 2013 to 2016. Data was obtained from chart reviews of their medical and endoscopic records. In all cases, 6-8 biopsies were taken from the mid-proximal and distal esophagus. All index endoscopies were performed off of proton pump inhibitors.

Results: The father arrived to our institution with a diagnosis of EoE, made by a gastroenterologist in 2011. Child #7 had also arrived with an EoE diagnosis made at two years of age when she was evaluated for failure to thrive, diarrhea and reflux. Among the seven other children, five are newly diagnosed with EoE, with age ranges from 5-20 years at the time of diagnosis. They all presented with classic symptoms of dysphagia, and/or abdominal pain, as well as endoscopic findings of EoE (Table 1).

Conclusion: This case series lends evidence to the mounting data highlighting the heritability of EoE. Several articles have suggested an increased recurrence risk among siblings, even compared to other atopic diseases. To our knowledge, there have been no reports of EoE occurring to this extent within a single nuclear family. Thus, our family offers a unique cohort to observe the genetic predispositions of EoE and may provide an opportunity to further investigate the potential role of genetic markers in EoE susceptibility.

 

14  ASYPTOMATIC PNEUMOPERITONEUM DUE TO STERCORAL COLITIS

Aimee Calliet, Michael Nowicki, Michael Steiner, University of Mississippi Medical Center, Jackson, MS, USA

An 11-year-old female presented to her pediatrician with a history of cough for which a chest x-ray was obtained showing an unexpected pneumoperitoneum. A CT scan of her abdomen was obtained, which raised suspicion for visceral perforation. History was only positive for persistent cough and constipation. She reported a frequency of defecation every 2-3 weeks with stools described as large, hard, and difficult to pass with anal pain. She denied any past medical problems or past surgeries. Her only medication was polyethylene glycol 3350. Physical exam revealed an overweight patient in no distress. Her vital signs were within normal limits. Her lung and abdominal exam were unremarkable. Laboratory studies were all normal. A presumptive diagnosis of colonic perforation was rendered. She was made nil per os and started on maintenance intravenous fluids. Review of the CT scan showed pneumoperitoneum and a large fecal impaction (9.3 cm in largest diameter) in the sigmoid colon with associated stranding and mucosal thickening at the site of fecal impaction - consistent with a diagnosis of stercoral colitis. It was presumed that the child had a colonic micro-perforation that resolved. She was observed for 48 hours and remained asymptomatic. A colonic clean-out was performed during hospitalization. She was discharged with a bowel regimen. At a two--month follow-up, she was having 1-2 bowel movements daily with no encopresis.

Stercoral perforation [SP] of the colon is a rare condition most commonly reported in adults with a history of long-standing constipation. Presentation is that of an acute abdomen due to perforation and resulting peritonitis. SP characteristically occurs in the distal colon, as this area has relatively poor blood supply, is most narrow, and has high intraluminal pressure. Also, the feces is maximally dehydrated at this portion of the colon. Radiographic features have been described which allow diagnosis of SP prior to surgical intervention. The patient described herein presented with asymptomatic pneumoperitoneum due to SP, which heretofore has not been described in the literature. Conservative management with laxation resulted in resolution of the causative fecal impaction without the need for surgery.

 

15  CAPSULE FINDINGS IN EOSINOPHILIC ENTERITIS

Nathalie Nguyen1,2, Glenn T. Furuta1,2, Robert E. Kramer2, Calies Menard-Katcher 1,2, Joel A. Friedlander2, 1Gastrointestinal Eosinophilic Diseases Program, Aurora, CO, USA, 2University of Colorado School of Medicine; Digestive Health Institute, Children’s Hospital Colorado, Aurora, CO, USA

Background: Eosinophilic Gastrointestinal Diseases (EGID) are characterized by organ-specific symptoms and dense eosinophilia. Eosinophilic enteritis is increasingly recognized as a form of EGID that can manifest with diarrhea, abdominal pain or gastrointestinal bleeding, but also may manifest with symptoms referable to only occult protein and blood loss. Lesions may not be apparent endoscopically or radiologically because they may extend beyond the reach of traditional upper endoscopy or may not reach a depth that enables detection with radiological testing. Therefore, we report use of pediatric capsule endoscopy (CE) that enabled identification of the small bowel lesions in eosinophilic enteritis. Here we report two such patients.

Subject #1: A 19-year-old male presented with fatigue, pedal edema, iron deficiency anemia (hemoglobin 8.6 g/dl, MCV 54.8 FL), hypoalbuminemia (2.5 g/dl), hemoccult positive stool, fecal protein loss (stool alpha-1-antitrypsin 705 mg/dl) and peripheral eosinophilia (800 cells/ul). Upper endoscopy revealed esophageal, gastric and duodenal eosinophilia (distal esophagus-130 eos/HPF, gastric antrum >500 eos/HPF, and duodenum-52 eos/HPF). Treatment with diet restriction was unsuccessful. Because of persistent symptoms and life altering pedal edema that did not respond to diet management, CE was performed that revealed jejunal and ileal salmon-colored erosions and ulcers with exudates, but no active bleeding. Loss of villi was evident in some areas and the colon appeared normal. He responded to prednisone and subsequent maintenance with budesonide capsules.

Subject #2: A two-year-old male presented with fatigue, anorexia, abdominal distention, iron deficiency anemia (hemoglobin 8.5 g/dl, MCV 62.5 FL), hemoccult positive stool and peripheral eosinophilia (440-880 cells/ul). Upper endoscopy and colonoscopy were grossly and histologically unremarkable. CE revealed jejunal erythematous salmon colored patches with oozing blood extending into the proximal ileum. He subsequently underwent push enteroscopy and lesions revealed jejunal eosinophilia (72 eosinophils/HPF densely packed in the lamina propria, blunted villi, and reactive epithelial changes). The patient exhibited clinical improvement with budesonide capsules.

CE may identify small bowel lesions in patients with clinical suspicion for protein losing enteropathy and/or occult GI blood loss. Salmon patches in the setting of peripheral eosinophilia should raise the suspicion for eosinophilic enteritis.

 

16  PEMPHIGUS VULGARIS AND EOSINOPHILIC OESOPHAGITIS : CASE REPORT AND PROPOSED SHARED MECHANISM

Paul Hammond1, Sam Gue1, Gwendolyn Huang1, Lynette Moore2, Christina Boros, 1Women’s and Children’s Hospital, North Adelaide, South Australia, Australia, 2SA Pathology, North Adelaide, South Australia, Australia

This case report presents a 13 year-old male referred to the Department of Paediatric Dentistry, Women’s and Children’s Hospital Adelaide, following a five week history of severe oral ulcerations and significant weight loss of unknown origin. The diagnosis of pemphigus vulgaris was made following intra-oral deep incisional biopsy into the buccinator muscle and subsequent immunoflourence. At the time of workup for pemphigus vulgaris, an upper gastro-intestinal endoscopy demonstrated features consistent with eosinophilic oesophagitis. Histopathology from biopsies collected at the time of endoscopy were consistent with eosinophilic oesophagitis. The patient was treated with initial pulse methylprednisolone, followed by oral prednisolone, and azathioprine. He had one relapse during the first twelve months of treatment and has now been in remission for nine years. The association with eosinophilic oesophagitis in this case, although previously unreported, is explicable on the basis of dysregulation of desmoglein 1 (DSG1). This case report identifies a new clinical association that could help clinicians identify further such cases in the future and provides insight into the pathogenesis of both conditions.

 

17  RECTAL BLEEDING: HOW COMMON IS AN INTESTINAL LYMPHOMA IN CHILDREN?

Shilpa Sood, Lynette Cukaj, Stuart H Berezin, New York Medical College, Valhalla, NY, USA

We present the case of a 4 year old previously healthy male admitted with two days of painless rectal bleeding, described as large volume, bright red blood with clots mixed with dark formed stool and normocytic anemia – Hb: 8.5g/dL. Past medical history was significant for chronic constipation. Physical exam was remarkable for fullness in the suprapubic and right hemi-abdomen and an anal fissure at 6’oclock position. Initial abdominal X-ray showed fecal impaction. Patient was given a Golytely clean out. Meckel’s scan was unremarkable. Infectious colitis was ruled out. Upper endoscopy and colonoscopy was remarkable for a large polypoidal mass in the cecum obscuring about two thirds of the lumen, friable and bleeding, no stalk was identified, ileocecal valve was deviated to the right and incompletely visualized. CT abdomen and pelvis with Iv contrast showed a large soft tissue mass in the pelvis and lower abdomen predominantly on the right measuring approximately 7.8 x 4.6 x 5.6 cm extending from the rectovesicular pouch to the inferior tip of the liver with a dumbbell configuration. Prominent vessels were seen overlying the periphery of the mass which are SMA mesenteric branches to the terminal ileum and the right colon. The mass extended into the cecum and ascending colon. There was associated mesenteric adenopathy with the index node measuring up to 1.6 x 2.4 cm. Given the location and appearance of the mass the likely diagnosis was a non-Hodgkin’s type lymphoma originating in mesenteric lymph nodes or in bowel wall. On exploratory laparotomy, the tumor was resected in entirety along with the cecum, the ascending colon and part of the terminal ileum. Primary re-anastomosis was performed. Bone marrow aspirate, CSF and pericardial fluid was negative for malignant cells.

Histopathology: H and E sections through the ileocecal mass extending to the appendix revealed proliferation of monomorphic lymphoid cells in the background of a starry sky pattern with high nucleus to cytoplasmic ratio, negative EBV stain. Based on morphologic, immunophenotypic and FISH study this was a high grade, aggressive diffuse large B-cell lymphoma. Post-operatively, patient tolerated full enteral feeds and has received chemotherapy with Vincristine, Cyclophosphamide, Doxorubicin and Rituximab.

Discussion: Primary tumors of the gastrointestinal (GI) tract are rare in children and represent less than 5% of all pediatric neoplasms. Diffuse Large B cell lymphomas are very similar to Burkitt’s or Burkitt-like lymphomas and represent 10-20% of all pediatric Non-Hodgkin’s Lymphomas. Commonly seen in the second decade of life, with primary mediastinal involvement. In the GI tract, Ileocecal junction is the most frequent site. Clinically, they present with symptoms ranging from abdominal mass to acute abdominal emergency caused by intussusception, abdominal pain, vomiting, constipation, diarrhea or intestinal obstruction. These tumors are chemosensitive and can be treated effectively with primary chemotherapy with or without debulking surgery depending on the location and stage of the disease.

In conclusion, rectal bleeding is an uncommon presentation of intestinal lymphomas in children.

 

18  IDIOPATHIC SMALL BOWEL DIAPHRAGMATIC DISEASE IN PAEDIATRIC POPULATION

Shishu Sharma, Mike Thomson, Richard Lindley, Sheffield Children's NHS Foundation Trust, Sheffield, South Yorkshire, UK

Introduction: Small bowel diaphragmatic disease (SBDD) is a rare complication of small bowel enteropathy secondary to the use of non-steroidal anti-inflammatory drugs. Idiopathic SBDD is a rare entity in itself and it has not been widely reported in paediatric population. We present here a 33-month-old girl who was diagnosed with SBDD by wireless capsule endoscopy (WCE) and further managed effectively by trans oral double balloon enteroscopy (DBE) and mini-laparotomy-assisted enteroscopy (LAE).

Case report: A 33-month-old girl presented with a year history of microcytic hypochromic anaemia with hypoalbuminaemia of unknown origin, requiring. No PR blood or melaena were identified. Night sweats and intermittent facial/pedal oedema were seen.

Initial normal/negative investigations at the referring hospital included: FBC; LFTs; clotting screen, B12, folate, fat soluble vitamin levels, thalassemia screen, electrophoresis, autoantibody/ANA screen, thyroid function tests, coeliac screen, ASOT, mycoplasma, EBV screen, parvovirus screen, Quantiferon, serum compliments, tryptase, stool pancreatic elastase and urine neuroblastoma screens. The stool tests were negative for bacteria, ova cysts and parasites on multiple occasions but was positive for faecal occult blood.

The bone marrow aspirate and trephine biopsy at the referring hospital were suggestive of iron deficiency anaemia. She had low serum ferritin (3ug/L) and iron levels (1umol/L), needing intravenous iron infusion.

Raised faecal alpha 1 anti-trypsin level raising the possibility of intestinal lymphangiectasia was present.

Faecal calprotectin was raised on more than one occasion precipitating the referring hospital to perform oesophagogastroduodenoscopy, ileocolonoscopy and a Meckels’ scan, which were all normal.

On referral to the gastrointestinal bleeding centre WCE was performed and this showed SBDD with ulceration associated with multiple narrow strictures/bands. Subsequent DBE and then LAE revealed 23 stenosing ulcerated concentric band type lesions over a 70cm span of small bowel 180 cm distal to the pylorus. (Video slides/ pictures) In addition a single gastric aphthoid ulcer and multiple terminal ileal aphthoid ulcers were noted and biopsied. The diseased section of small bowel was resected under the same anaesthetic. The infectious disease team review ruled out tropical disease. Histopathology showed non-specific superficial ulcers of the mucosal surface with no evidence of vasculitis, CMV or inflammatory bowel disease, leading to a final diagnosis of idiopathic small bowel diaphragmatic disease.

Conclusion: To the best of our knowledge this is the second reported case of poorly understood paediatric idiopathic SBDD. Our centre published the first ever case report of SBDD in a 5 year-old girl in 2012. The differential diagnosis of SBBD is NSAID-precipitated ulceration, Crohn’s disease, vasculitis, intrauterine insults, CMV, tuberculosis and eosinophilic enteritis.

        

 

19  PITFALLS IN USING HLA DATA TO RULE OUT CELIAC DISEASE

Simon Rabinowitz1, Jiliu Xu1, Steven M Schwarz1, Maureen Leonard2, 1Children’s Hospital at Downstate, Brooklyn, NY, USA, 2Harvard Medical School, Boston, MA, USA

Introduction: Part of the inheritability of celiac disease (CD), a gluten-mediated autoimmune enteropathy, is based on an individual’s HLA genotype. Certain groups of haplotypes at the HLA DQ loci, HLA DQ2 and DQ8, have a negative predictive value for CD that approximates 99% and are often employed to rule out possible CD (A Mubarak et al, JPGN 2012). This report describes two brothers that were considered to have negative screening by two commonly utilized reference laboratories that were subsequently diagnosed with CD by serologic and histologic characteristics. The discussion section will elucidate this apparent dichotomy.

Results: Two brothers had positive serology for CD by a popular commercial lab: Tissue transglutaminase (TTG) IgAs were 15 and 58 (normal <4); endomysial IgAs (endo IgA) were both 1:20 (normal <1:5). Both were diagnosed with CD and started on gluten-free diets (GFD) without a biopsy. One year later, one normalized his TTG and endo IgAs. The other had a normal endo IgA, but an elevated TTG IgA (25.3) that persisted six months later (26.9). HLA CD panels reported for both: “Patient does not have the HLA-DQ variants associated with celiac disease” and “HLA-DQ2 (DQA*05)” and “HLA DQ8 (DQA*03)” were negative. The same report also documented that both boys had DQB*102 and DQA1*01 alleles, corresponding to an HLA DQ2 haplotype, DQ2.2. After seeing the boys and reviewing in more detail the requirements of a GFD, the younger boy also normalized his TTG IgA. Bloods sent to a national reference laboratory reported that both had DQ2.2 but interpreted their results as “DQ2/other low risk gene” with an “increased risk <1” and a “low relative risk.” To reach a more definitive determination, both boys ended their GFD for several months and remained asymptomatic. Both had increases in their TTG IgA serologies (29 and 4, normal <4). Both also had biopsies that showed Marsh 2-3 histopathology, thus conclusively establishing the diagnosis of CD in both.

Discussion: The polymorphic HLA DQ gene has many alleles that all code for this MHC class II receptor. Among these, are the various DQ2 and DQ8 haplotypes that are all able to uniquely bind and present gliadin peptides in a manner that is required for the development of CD (Kim, et al PNAS 101:4175 2004). However, there is also variation among the individual DQ2 haplotypes’ binding of gliadin, thus defining different likelihoods of yielding CD. For example, while DQ2.5 has a stronger association with CD than DQ2.2, 4% of CD patients have DQ2.2 (A Mubarak et al, JPGN2012). At least two popular commercial laboratories routinely report interpretations of their HLA data that reflect the hierarchy among the various DQ2 haplotypes regarding their propensity to develop CD. However, the clinician must not be misled by the terminology cited above and instead should appreciate that the negative predictive value of HLA typing requires the absence of all DQ2 and DQ8 haplotypes.

 

20  A NEONATAL CASE OF MILK PROTEIN-INDUCED EOSINOPHILIC MYENTERIC GANGLIONITIS MANIFESTING INTESTINAL PSEUDO-OBSTRUCTION

Sotaro Mushiake1, Koji Yamazaki2, Akne Izu1, Yutaka Takemura2, Tsukasa Takemura2, 1Kindai University Nara Hospital, Ikoma City, Nara, Japan, 2Kindai University, Ohnohigashi , Osakasayama, Osaka, Japan

Background and Aim: Eosinophilic myenteric ganglionitis (EMG) is the less common form of myenteric ganglionitis that leads to intestinal dysfunction. Although the etiology of EMG has not been elucidated, administrations of corticosteroids and/or elemental diet have shown therapeutic effects in a few reported cases. On the other hand, eosinophilic infiltration found in food protein-induced enterocolitis syndrome is distributed in the mucosal site of intestinal wall. We report a neonatal case of EMG that presented intestinal pseudo-obstruction, in which non-IgE related milk protein allergy is suggested to be involved as the cause of the disease.

Case report: A boy was born without asphyxia at 38 weeks of gestational age, weighing 2,748 g. As regular formula feeding has started, he developed bilious emesis on the first day of life (DOL 1). No obstructive nor stenotic lesion was found in upper GI series and colonic contrast enema. On DOL 4, parenteral nutrition was introduced because he presented bilious emesis and severe abdominal distension again after restart of the formula. An eosinophilia (WBC 4,500/μL, Eo 27.7%) was found in the blood count. On DOL 10, ileostomy was performed because laparoscopy revealed relative narrowing of the intestinal caliber at the end of the ileum. Pathological examination at the ileum showed marked eosinophilic infiltration at the muscularis propria, especially at the myenteric neural ganglia. Eosinophils were not distributed within the mucosal layer. After the corticosteroid administration started on DOL 20, the eosinophil counts in peripheral blood thereby decreased progressively, and enteral intakes of elemental formula gradually increased. At the stoma closure on DOL 89, eosinophilic infiltration at the myenteric ganglia disappeared. Labolatory examinations that preceded steroid administration revealed that thymus and activation-regulated chemokine (TARC) was elevated (3,506 pg/mL), allergen-specific lymphocyte stimulation test (ALST) for ƒÈ-casein, β-casein, and lactoferrin were all positive, while IgE RIST was not elevated (23 IU / mL) and RAST for milk, casein, egg, wheat, soybean and rice were all negative.

Discussion and Conclusion: In this patient, intestinal motility was severely affected by the eosinophilic infiltration to the myenteric neural ganglia, and milk protein removal and corticosteroid administration ameliorated the clinical symptoms along with the pathological findings. Lymphocyte sensitization against milk protein moiety is assumed to be established in utero by non-IgE related manner. Moreover, it is suggested that the EMG is evoked by the immunological sensitization from serosal site via humoral pathway, while the transmural sensitization in food protein allergy results in eosinophilic infiltration at the mucosal site of the intestinal wall.

 

21  GASTRIC OUTLET OBSTRUCTION AS INITIAL FEATURE OF CHRONIC GRANULOMATOUS DISEASE

Jane Abou-Diab, Thuy Mai Luu, Colette Deslandres, Ugur Halac, Sainte-Justine University Hospital and Research Center, University of Montreal, Montreal, QC, Canada

Introduction: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency characterized by recurrent bacterial and fungal infections as well as inflammatory complications such as granulomas formation. Granulomas can affect different organs, but the gastrointestinal tract appears to be a prime target.

Case description: A six-month-old boy with medical history of cow’s milk proteins allergy was admitted in a community hospital for vomiting, feeding issues and lethargy without fever. Physical examination was not contributory and a full septic screening, including lumbar puncture, was performed. The blood count revealed leukocytosis (WBC > 38,000/L; 26,000 neutrophils/L; 3,100 eosinophils/L), increased C-reactive protein (47mg/L) and normal sedimentation rate. The patient was treated with large spectrum antibiotics but after 4 days, he was referred to our center because of persistence of vomiting and leukocytosis (WBC 30,000/L). Abdominal ultrasound revealed major thickening of the pylorus up to the antrum and the gastric body. Barium meal showed slowed gastric emptying and luminal thinness of antrum and pylorus. Upper gastrointestinal endoscopy biopsies of oesophagus and stomach demonstrated mucosal and sub-mucosal infiltration with eosinophils. Bone marrow aspiration was normal. Whole-body PET-CT confirmed abnormal activity in the upper gastrointestinal tract. CGD diagnosis was eventually considered on the basis of combination of gastric outlet obstruction (GOO), leukocytosis and imaging findings and was confirmed by neutrophils oxidative burst test. Additional screening with thoraco-abdominal CT-scan did not show granuloma or deep abscess. The patient was treated with corticosteroids and anti-fungal prophylaxis. Leukocytosis progressively returned to normal and feeding was improved prior patient discharge. He was subsequently listed for bone marrow transplant. During the close follow-up, he was hospitalized for occurrence of pulmonary nodules whose biopsies confirmed the presence of Mycobacterium Avium. A treatment combining ethambutol, rifabutin and azithromycin was started with favourable outcome.

Clinical presentation of CGD is characterized by recurrent life-threatening bacterial and fungal infections and granulomas occurrence especially in genitourinary and gastrointestinal tracts. Up to 40% of patients with CGD are diagnosed with gastrointestinal symptoms or may develop them throughout the illness. Some limited series estimate the occurrence of antrum narrowness up to 15% of CGD patients with gastrointestinal involvement. However, the incidence of GOO as initial presentation remains unknown.

Conclusion: GOO as initial presentation of CGD is rare. However, this report shows that CGD diagnosis should be considered in patients with persistent or chronic history of vomiting with feature of GOO. Early diagnosis and treatment are crucial in preventing significant complications.

 

22  EOSINOPHILIC ESOPHAGITIS AND CELIAC DISEASE: A CAUSE, ASSOCIATION OR CO-INCIDENCE

Vrinda Bhardwaj, Children’s Hospital Los Angeles, Los Angeles, CA, USA

Background: Celiac disease and eosinophilic esophagitis (EoE) are distinct gastrointestinal disorders. Celiac disease is a chronic, immune-mediated disorder, characterized by small intestinal inflammation and villus atrophy after gluten exposure in genetically susceptible individuals. Eosinophilic esophagitis is a primary disorder of the esophagus characterized by upper gastrointestinal symptoms, absence of gastroesophageal reflux disease and more than 15 eosinophils per high-power field in biopsy specimens. Both celiac disease and EoE are caused by aberrant, but distinct, immune responses to ingested antigens and can be responsive to restricted food intake. Current pediatric literature describes the prevalence of EoE in subjects with celiac disease to be about 10-times that of the general population.

Purpose: The aim of the case report is to highlight the presence of eosinophilic esophagitis and celiac disease, two currently thought to be distinct gastrointestinal diagnoses, occurring together in a pediatric patient, with EoE identified after a poor response to gluten-free diet. We suggest searching for EoE in children undergoing endoscopy for suspicious celiac disease.

Case: A six-year-old male was referred to pediatric gastroenterology at a tertiary academic center with symptoms of abdominal pain, poor appetite and weight loss over a one-year period. On laboratory evaluation he had a positive IgE RAST allergy panel to eggs, milk, soy, peanut, shellfish, tuna, latex and pollen, peripheral eosinophilia and an abnormal celiac serology. Upper endoscopy revealed villus blunting with intraepithelial lymphocytes confirming the diagnosis of celiac disease. He was started on a gluten-free diet and after a six-month period celiac serology was negative suggesting compliance with gluten-free diet but he continued to have intermittent abdominal pain and poor appetite, although improved from before. On repeat endoscopic evaluation, esophageal erythema was noted and esophageal biopsies were obtained. He had active esophagitis in the mid and distal esophagus with basal cell hyperplasia and 30-40/hpf eosinophils and mild villus blunting in duodenum. Topical corticosteroid therapy along with gluten-free diet achieved symptom resolution and a repeat endoscopic exam after a four-month period demonstrated less than 15/hpf eosinophils in esophageal biopsies and a normal duodenum.

These two diagnoses should be considered in pediatric patients presenting with upper gastrointestinal symptoms and especially in the setting of lack of response to gluten-free diet in a celiac disease patient. Routine esophageal biopsies may be warranted when investigating for celiac disease. Lack of adult literature suggests that celiac disease and EoE occurring together may be an entity limited to pediatric population.

 


ENDOSCOPY

 

64  SIGNIFICANT HEMORRHAGE FROM ENDOSCOPIC BIOPSIES

Albert Ross, Jason Shapiro, Vania Kasper, Timothy Menz, Navneetha Unnikrishnan,Thomas M Renaud, Caitlin J Montcrieff, Hasbro Children’s Hospital, Providence, RI, USA

A five-year-old male presented with painless rectal bleeding involving small amounts of bright red blood with stools. A fissure was present and treated, but he continued to bleed. There was no bleeding from other sites. Medical and surgical histories were unremarkable; he had an uncomplicated circumcision as an infant. His mother had a juvenile polyp removed at age 9. He underwent upper and lower endoscopy to better assess. No active bleeding site, polyps, vascular anomalies or ulcers were found. Per standard protocol, endoscopic pinch biopsies were obtained from the duodenum, stomach, distal esophagus, terminal ileum, cecum and rectum. He tolerated both procedures and was discharged home without event. A few hours after the procedure, he began to pass large clots from his rectum. He was referred to the emergency department where he continued to pass blood. Hemoglobin on arrival was 9.3 G/Dl with a mean cell volume of 80.9 fl. Platelets were normal at 311. He had no pain or vomiting and the abdominal exam was unremarkable. The child was admitted and continued to bleed with the Hgb reaching 6.5 for which he received transfusion. Protime was 12.8 sec (INR 1.2) and PTT 42 sec. A Meckel’s scan was negative. He continued to pass clots and repeat endoscopy and colonoscopy was attempted to better assess. The upper scope showed oozing from one biopsy site in the esophagus and a large clot adherent to the biopsy site on the opposite wall. No bleeding was seen in the stomach or duodenum. The rectum was full of dark clots of blood without bright red blood. Despite large volume flushing, the procedure was terminated in the sigmoid due to blood obscuring the lumen. He was admitted to the ICU. As findings at the second endoscopy were worrisome for a bleeding diathesis, an evaluation of clotting factors was obtained which revealed a factor IX level of 4% (normal 63—89%) consistent with moderate hemophilia B. He was treated with intravenous recombinant factor IX and aminocaproic acid and the bleeding resolved. He has had no further episodes of GI bleeding and is being managed with factor IX replacement on a prn basis.

GI bleeding is a known complication of endoscopy. Bleeding enough to require a transfusion is rare, especially from standard endoscopic biopsies. The Peds-Cori study found bleeding as a complication in only 0.3% of upper GI endoscopies. In an adult study of complications from colonoscopy, only 83 out of 67,632 patients suffered bleeding. Routine coagulation screening did not predict the risk of significant bleeding in a retrospective analysis from the United Kingdom. A previous case report noted both duodenal and retroperitoneal hematomas after upper endoscopy as the presentation of hemophilia B. This case demonstrates that the use of the patient history to evaluate bleeding risk can miss a child with a bleeding disorder. Any child who bleeds from pinch biopsies should be considered for testing for hemophilia or other problems of hemostasis.

 

65  ENDOSCOPIC CYANOACRYLATE INJECTION FOR PRIMARY AND SECONDARY PROPHYLAXIS OF GASTRIC VARICES IN CHILDREN

Guillermina Gomez-Navarro1, Placido Espinosa-Rosas2, Ramon Alfredo Castaneda-Ortiz2, Rodrigo Alejandro Rodriguez-Izaguirre2, Enory Almanza-Miranda2, 1Centro Medico Nacional 20 de Noviembre Issste, Zapopan, Jalisco, Mexico, 2Centro Medico Nacional 20 de Noviembre Issste, Mexico City, Mexico

Introduction: In pediatrics, digestive bleeding is the most frequent cause for emergency upper endoscopy. In patients with portal hypertension, bleeding is usually the consequence of esophageal or gastric varices. Bleeding secondary to gastric varices has a low incidence but it is associated to high morbidity and mortality. The treatment of choice for these varices is obliteration injecting N-butyl-2-cyanoacrylate, a tissue adhesive frequently used in adults for primary and secondary prophylaxis. The aim of this study was to evaluate the safety and efficacy of cyanoacrylate use in primary and secondary prophylaxis of gastric varices in children in a third-level hospital.

Patients and Methods: In this case series, 12 pediatric patients with portal hypertension and gastric varices who were treated with cyanoacrylate injection were included from January 2011 to February 2016 in Mexico City. The safety was evaluated based on the absence of major complications, specifically embolism and/or death caused by the procedure. The efficacy was evaluated based on eradication of gastric varices and/or absence of bleeding or rebleeding during follow-up for primary and secondary prophylaxis respectively.

Results: 4 girls and 8 boys with an average age of 7 years old were studied. Cyanoacrylate was used in three patients as primary prophylaxis for gastric varices due to presence of signs of impending bleeding and as secondary prophylaxis for the rest. Gastric variceal eradication was reported in 66.7% of patients, with 75% of those after only one injection; there were no episodes of bleeding or rebleeding secondary to gastric varices reported and no major complications from the procedure.

Conclusions: Cyanoacrylate use in primary and secondary prophylaxis of gastric varices in children proved to be both safe and effective.

 

66  BLEOMYCIN SCLEROTHERAPY FOR TYPE 1 VENOUS MALFORMATION OF THE DISTAL ESOPHAGUS IN A PEDIATRIC PATIENT WITH UPPER GASTROINTESTINAL BLEEDING

Hassan Hamandi, Rockford Adkins, Christine Karwowski, Sally Mitchell, Anthony Guerrerio, The Johns Hopkins University, Baltimore, MD, USA

Background: Bleomycin is a chemotherapy drug used to treat various oncologic conditions. A more novel use of this drug is as a sclerotherapy agent. There are reports in the otolaryngology literature of its use in children with vascular malformations of the airway. We report its use in the treatment of a type 1 venous malformation of the distal esophagus in a child.

Clinical Scenario: 18-month-old female, former 35-week gestational age, who presented initially with hemodynamically significant upper gastrointestinal bleeding at 12 months of age. She underwent esophagogastroduodenoscopy (EGD), which revealed a large, ill-defined vascular malformation in the distal esophagus. She subsequently underwent CT angiography, which demonstrated circumferential wall thickening and enhancement in the distal esophagus in the venous phase, suggestive of a venous vascular malformation, although there was no direct visualization of feeder vessels. She was managed conservatively with octreotide and a proton pump inhibitor continuous infusion. Further intervention was deferred due to parental preference, and she was discharged home when hemodynamically stable. MR angiography as an outpatient did not yield additional information, again failing to demonstrate a well-defined vascular malformation or feeder vessels. The patient was lost to follow-up until she presented with recurrent hematemesis, melanotic stools, and hemodynamic instability at 18 months old. After the patient was stabilized in the pediatric intensive care unit, she was brought to the interventional radiology suite. Using an endoscope, a sclerotherapy needle was used to inject contrast into the lesion, confirming a type 1 venous malformation without an arterial component. The lesion was significantly greater in size than on prior evaluation, extending 5 cm caudally from the gastroesophageal junction and covering 1/3 of the posterior wall of the esophagus. Subsequently, 8 milliliters of bleomycin were injected into the lesion at 2 different sites under direct fluoroscopic visualization, resulting in vascular sclerosation and qualitative mass shrinkage per endoscopy. There was minimal bleeding during the procedure. The patient was on total parenteral nutrition for 1 week to avoid mechanical disruption of the venous malformation, and she was gradually transitioned to a regular diet. During her outpatient assessment 4 weeks post-procedure, she was stable with no further episodes of upper gastrointestinal bleeding and an unchanged hemoglobin level. Endoscopic follow-up has been deferred due to parental preference.

Conclusion: Bleomycin was successfully used as a sclerotherapy agent in the endoscopic treatment of a type 1 venous malformation of the distal esophagus in a child. This approach required the cooperation of pediatric gastroenterology and interventional radiology to safely perform the procedure.

 

67  SEVERE AND FATAL NON-VARICEAL ESOPHAGEAL BLEEDING AFTER CARDIAC SURGERY

Homoud Al-Hebbi, Abdulrahman Al Robyan, Sami Wali, Ahmed Elwy, Roberto Di Donato, Ebtesam Al Meghaiseeb, Prince Sultan Military Medical City, Riyadh, Central, Saudi Arabia

Massive and fatal non-variceal esophageal bleeding is rare in children and adults. There are a few cases reported in the adult literature describing massive non-variceal esophageal bleeding which proved to be fatal in some cases. Most of the cases are related to aortic aneurism and complication of its treatment. There are two reported cases in children which were caused by vascular anomalies before and after correction of the double aortic arch and aberrant right subclavian artery, respectively.

We report three cases which had severe non-variceal esophageal bleeding. The first case was a four-year-old boy who has complex congenital heart disease and underwent cardiac surgery. The surgeon created a central shunt and he had Glen operation before that. He started to have recurrent upper gastrointestinal bleeding two weeks after surgery which was treated initially with proton pump inhibitor. He had massive bleeding causing hypotension and endoscopy showed pulsatile artery at the mid esophagus which was treated with a clip. The bleeding stopped and the patient survived. CT angiogram showed clear aorto-esophageal collaterals.

The second case was a two-year-old girl who underwent surgery for vascular ring and had a high WBC and treated with antibiotics without positive cultures. She started to have massive upper gastrointestinal bleeding which led to severe hypovolemic shock. Endoscopy was performed while receiving inotropic support. The bleeding site was identified at the mid esophagus and three clips were applied. The bleeding decreased significantly. However the patient arrested and the surgeon decided to perform thoracotomy during resuscitation and a fistula between the corrected vascular ring and esophagus was found and ligated. The bleeding stopped but the patient died two days later from multisystem organ failure.

The third case was a three-year-old girl who had massive bleeding after a modified Blalock-Taussig shunt, and endoscopy showed the bleeding stemming from the mid-esophagus which was controlled successfully by a clip.

Conclusion: We showed that massive gastrointestinal bleeding after cardiac surgery raised the possible risk of vascular fistula to the esophagus which might be increased by the presence of infection and/or ventilation. In these cases, urgent endoscopy is recommended and the use of clips is successful. If it is difficult to control the bleeding, a 6 cm balloon should be placed at the site of the bleeding for tamponade until urgent surgical intervention can be performed.

 


68  DIFFICULT GASTRIC FOREIGN BODY IN A TODDLER

Susan Okpara1, Iona M. Monteiro1, Colin Bethel2, 1Rutgers New Jersey Medical School, Newark, NJ, USA, 2Newark Beth Israel Medical Center, Newark, NJ, USA

Introduction: Children explore and interact with the world by putting objects in their mouth, hence majority of foreign body ingestions (FB) occur before 6 years(y) of age, peaking at 1-2y. They come to medical attention when witnessed by the caregiver or after child reports ingestion or has signs and symptoms. Magnet ingestion is rising, likely due to popularity of small, powerful rare-earth magnets in toy sets and novelty items, magnetic imitation pierced jewelry, and an increase in the use of magnets as therapy for arthritis. FB in the esophagus can be asymptomatic or present with food refusal, dysphagia, drooling, gagging, vomiting, hematemesis, chest pain, sore throat, stridor, cough, unexplained fever or altered mental status. Gastric FB may be asymptomatic or produce less specific symptoms that may include abdominal pain, melena, and hematochezia. Complications of FB can be choking when inhaled, trauma to soft tissues and in case of ingestion of multiple magnets, the gut may entrap between the magnets causing obstruction, pressure necrosis, ulceration, volvulus, perforation, peritonitis and even death.

Case: Three-year-old male was brought to Emergency Room (ER) with complaint of refusal of food, despite saying he was hungry and was noted to be less playful. He denied abdominal pain, vomiting, diarrhea or constipation. PE was unremarkable except for palpable stool in left lower quadrant (LLQ). He was given juice and vomited. Abdominal X-ray showed a double circular opaque foreign body in the stomach. Esophagogastroduodenoscopy showed a round metallic object lodged in the gastric mucosa which could not be retrieved after several attempts. Surgical gastrotomy was done and a round battery was removed, fluoroscopy showed 2nd FB in LLQ. It is presumed that the magnetic FB stuck to one another across the gastric wall and the loop of either small or large bowel. The second FB was allowed to pass.

Discussion: Most FB pass through the GI tract uneventfully but some can get lodged, causing toxicity and perforation; these have to be identified and retrieved promptly. Button battery ingestions have traditionally been feared as they can cause corrosive injury especially when lodged in the esophagus at the thoracic inlet, the aortic arch area, or the gastroesophageal junction. Magnet ingestion causes no toxicity, but if there is ingestion of more than one magnet, or a magnet and metal FB, there is a higher risk of complications due to entrapment of bowel between the attracting objects.

 Conclusion: Swallowed magnets can attract and adhere tightly to each other causing bowel obstruction or necrosis. Physicians must keep in mind that in addition to preventive measures, early intervention is a significant factor in reducing morbidity/mortality associated with magnetic/battery foreign body ingestion. We feel that this child's visit to the ER, leading to removal of the FB likely prevented him from developing necrosis and or perforation of his gut.

 

69  HIATAL HERNIA COMPLICATED BY BENIGN ESOPHAGEAL STRICTURE IN A DEVELOPMENTALLY DELAYED MALE

Jennifer A. Deluty, Akash Pandey, Howard Bostwick, Maria Fareri Children's Hospital, Valhalla, NY, USA

Background: Benign esophageal strictures can be defined as the decreasing caliber of an esophageal lumen in the absence of extrinsic pathogenic etiologies (1,2). Hiatal hernias can cause severe reflux and have been identified as a possible cause of esophageal stricture in adults (2). Hiatal hernias in children are almost exclusively congenital (3) Here, we report a case of a simple esophageal stricture secondary to a hiatal hernia in a developmentally-delayed adolescent, making this case one of the few-reported cases of stricture secondary to hiatal hernia in a pediatric age group, treated successfully with balloon dilatation.

Case Report: A 15-year-old male with a history of Autism Spectrum Disorder who presented with a 3-4 months' history of vomiting and weight loss. On admission, his upper GI series revealed a distal esophageal stricture and small hiatal hernia. Subsequent upper endoscopy demonstrated a distal esophageal stricture, with passage of a Olympus GIF-XP180N, 5.5 mm diameter endoscope. He was treated with Omeprazole and underwent 4 subsequent endoscopies, each 1-2 weeks apart, where the sequential stricture balloon dilation successfully achieved a 15 mm dilation with resolution of his symptoms.

Discussion: An esophageal stricture is defined as a decrease in caliber of the esophageal lumen secondary to fibrotic contraction or deposition of abnormal tissue. Strictures can be classified as simple or complex based on the depth of injury and magnitude of fibrosis (1). Simple strictures are defined as straight in nature, less than 2 cm in length, and easily traversable whereas complex strictures are angulated, typically have multiple stricture points, are greater than 2 cm in length and are non-traversable. There are multiple etiologies of esophageal stricture including chronic acid reflux which leads to chronic inflammation secondary to exposure to acid, pepsin and pancreatic enzymes (2). The presence of hiatal hernia may predispose to more severe reflux disease (4). The treatment of esophageal stricture includes gastric acid suppression with proton pump inhibitors (5) and esophageal dilatation (6). The goal of any dilation is to establish and maintain a patent lumen compatible with patient’s life style with lowest risk to the patient (7). The efficacy of steroids is debated and more studies are needed (9,10). Surgery is reserved for patients whose symptoms fail to improve with conservative management. Complications associated with dilations include bleeding, perforation and infection (7).

Acquired hiatal hernia and secondary strictures are rare in the pediatric age group and thus are not well-characterized or defined. Clinical suspicion must remain high to rule out esophageal stricture secondary to hiatal hernia as organic causes of emesis and weight loss in the pediatric population.

 

70  HAIR OUT OF PLACE: A COMPLICATED CASE OF RAPUNZEL SYNDROME

Keren Dallalzadeh1, Stephen Shew2, Saied Dallalzadeh3, 1Cohen Children’s Medical Center, North Shore-LIJ, New Hyde Park, NY, USA, 2Ronald Reagan University of California – Los Angeles Medical Center, Los Angeles, CA, USA, 3Northridge Hospital Medical Center, Encino, CA, USA

Rapunzel syndrome (trichobezoar of the stomach extending into the duodenum and jejunum) is a rare pathology that is almost always associated with trichotillomania, trichophagia, or other psychiatric or neuro-sensory developmental delay disorders. Treatment options traditionally include non-surgical methods for smaller hair masses and open surgery for larger ones.

We are reporting a five-year-old female who presented with chronic diarrhea, early satiety and hemoglobin level of 3.9 g/dL. Physical examination was significant for fine motor and speech delay; long blonde hair without incomplete pattern of scalp hair loss; moderate abdominal distension without tenderness, guarding, palpable mass or hepatosplenomegaly; a small external hemorrhoid without anal fissure; no perianal fistula or abscess; an empty rectal vault; and negative hemoccult.

Hemoglobin electrophoresis was positive for thalassemia H type (Hgb F <1.0%, Hgb A 94.1%, Hgb A2 1.0%, Hgb Brat’s 3.0%, Hgb H 1.9%) with significantly low MCV, MCH, MCHC and RDW 23.1%. WBC was within normal limits; platelets were elevated at 540 x 103/μL. Additionally, labs were notable for iron storage depletion, an albumin level of 2.8 g/dL, normal TTG IgA, EMA IgA and total serum IgA and positive pANCA. KUB showed non-obstructive findings.

Diagnostic EGD revealed a large gastric hair mass that extended into the duodenum and occluded the entire pyloric opening with transitional black discoloration of the antrum. Following partial piecemeal endoscopic removal of the pyloric section of the hair mass, multiple ulcerations were identified (one peripyloric, umbilicated without sentinel clot or visible vessel and multiple in the duodenal bulb without active bleeding). Scheduled colonoscopy was withheld.

A large trichobezoar measuring 20.7 x 14.2 x 3.8 cm, with cast shape of gastro-duodeno-jejunum was surgically retrieved via gastrotomy. Post-operatively, our patient had a full and quick recovery, gaining 10 pounds over 6 weeks.

Hemoglobin H (HbH) disease (a subtype of alpha-thalassemia) is a microcytic hypochromic hemolytic anemia that can be associated with neuro-sensory delay. To our knowledge, there has been no previously reported case of hemoglobin H disease with neuro-sensory delay resulting Rapunzel syndrome further complicated by multiple gastric and duodenal ulcers. The trichophagia in our patient was thought to be secondary to pica from severe iron deficiency. Long-term hematological, psychiatric and behavioral follow-up is necessary to prevent future relapses.

 

71  ENDOSCOPIC REMOVAL OF FORTY-TWO BUCKYBALLS

Michael Dole, Girish Hiremath, Vanderbilt Children's Hospital, Nashville, TN, USA

Foreign body ingestion is a common presentation for emergency rooms, often requiring gastroenterology or surgical involvement. Although magnets constitute a low number of these ingestions, they have a higher rate of morbidity and mortality (1). The children's toy known as Buckyballs are spherical fullerene molecules with C60 formula made of 20 hexagons and 12 pentagons with a carbon atom at each vertex (2). These rare earth metals are have been made into magnetic children’s toys and are 5-10 times stronger then traditional magnets (2). There have been over 200 reported ingestions of these toys since arrival on the market, often multiple ingestions at once necessitating abdominal surgery (2). Ingestion of multiple magnets has been shown to cause severe gastrointestinal injury including intestinal perforation, fistula formation, and volvulus, requiring surgical intervention. Previous reports have indicated to proceed with urgent surgical intervention to avoid potential side effects with one retrospective review noting that 73% of magnet ingestions required laparoscopy or laparotomy (1,3). We are describing a successful case of endoscopic removal of multiple “Buckyball” ingestion resulting in avoidance of surgery and the morbidity and mortality associated with surgical intervention.

A three-year-old male presented to the Emergency Department within one hour following concern for ingestion of the “Buckyballs”. On arrival he was asymptomatic by history and exam. Abdominal x-ray imaging showed forty-two linked magnetic balls initiating in the stomach and terminating in the third portion of the duodenum. The appearance was concerning that the final magnetic ball in the duodenum was magnetically attracted to a magnet that was located in the stomach, possibly compromising the blood supply in these areas. The gastroenterology service was consulted and performed an emergent endoscopy in the OR suites with the pediatric surgery team on standby. Using alligator forceps, we were able to successfully detach the attracted magnetic in the stomach and pull a continuous chain of magnets free from the GI tract. After confirming with imaging that all magnets were removed and visualizing the mucosal wall with only minimal irritation at the sites of magnetic adherence, the patient was discharged home with acid blockers.

Despite being banned from market in 2014, “Buckyball” still poses a danger through households that had purchased the toy prior to removal from retail stores or online sales.

1) Arslan S, Basuguy E, Zeytun H, Okur MH, Aydogdu B, & Arslan MS. Jejunoileal perforation and volvulus caused by multiple magnet ingestion. Acta Clinica Croatia. 54, 96-98 (2015)

2) Leva EG, Stern SP, and Miele NF. “Bucking” for a diagnosis. Pediatric Emergency Care. 31, 365-367 (2015)

3) Waters AM, Teitelbaum DH, Thorne V, Bousvaros A, Noel RA, & Beierle EA. Surgical management and morbidity of pediatric magnet ingestions. The Journal of Surgical Research. 199, 137-140 (2015)

 

72  DIEULAFOY’S LESION IN AN 11 YEAR-OLD FEMALE WITH ACUTE UPPER GI BLEEDING

Mohammad Nasser Kabbany, Sophia Patel, Praveen Kumar Conjeevaram Selvakumar, Lisa Feinberg,, Cleveland Clinic Children's, Cleveland, OH, USA

Background: Dieulafoy’s lesion is an uncommon cause of upper GI bleeding and is especially rare in the pediatric population. Dieulafoy’s lesion is a dilated artery that has eroded through the overlying epithelium. It is most commonly located in the proximal lesser curvature of the stomach, though can be seen in other areas as well. We report the successful treatment of an actively bleeding Dieulafoy’s lesion in an 11-year-old child.

Case presentation: An 11-year-old female with spastic quadriparesis, neuromuscular scoliosis, and Moya-Moya Disease secondary to ACTA 2 mutation presented to the ED with acute hematemesis, nausea, and dizziness. Six months prior to presentation, the patient had undergone posterior spinal fusion, followed by revision 12 days prior to presentation. She was on 400mg of ibuprofen daily for the past 6 months which was recently increased to 800mg per day in the two weeks prior to admission. For Moya Moya disease, she was on a daily dose of Aspirin 81 mg.

The patient complained of abdominal pain in the morning and then vomited approximately 500 ml of bright red blood with clots. In the ED, patient had another hematemesis of 200 ml. She was tachycardic to 150 and hypotensive, with hemoglobin and hematocrit of 8.6 and 27. She received two saline boluses and 20 mg of IV Protonix then was transferred to the pediatric intensive care unit. She continued to be tachycardic with a heart rate of 147 and looked pale on examination. Her physical examination was negative for any stigmata of portal hypertension. Esophagogastroduodenoscopy under general anesthesia showed a Mallory Weiss Tear at the distal esophagus extending to the GE junction. There was a large amount of blood and numerous clots in the stomach. After copious irrigation and suction a pulsatile bleeding lesion at the lesser gastric curvature was seen, consistent with Dieulafoy’s lesion. The area surrounding the lesion was injected with 7 milliliters of epinephrine diluted to 1:10,000. Hemostasis was achieved with 5 Boston Scientific Resolution clips. The rest of the examined stomach, esophagus, and duodenum appeared normal.

During the procedure, the patient received three units of packed red blood cells and Protonix bolus 20 mg IV followed by continuous infusion at a rate of 5ml/hr. After the procedure she was monitored closely in the pediatric intensive care unit. She was extubated the next day. Protonix infusion was stopped after 48 hours and changed to daily dose of 40 mg. Carafate 1gram three times daily was started upon discharge for 10 days duration.

Conclusion: Dieulafoy’s Lesion should be considered in the differential diagnosis for acute upper GI bleeding especially in patients with history of chronic NSAID use, chronic anticoagulant or aspirin use, and low suspicion for variceal bleeding.

 

73  ENDOSCOPIC BALLOON DILATION FOR THE TREATMENT OF CONGENITAL ANTRAL WEB

Racha Khalaf, Michael Wilsey, Claudia Phen, Roberto Sosa, Johns Hopkins All Children's Hospital, St Petersburg, FL, USA

Congenital antral webs are very rare, found in approximately 1 in 100,000 births. An antral web is a thin mucous membrane that can be found one to two centimeters proximal to the pylorus. This uncommon congenital condition can lead to narrowing of the antrum and subsequently causes gastric outlet obstruction in infants and children. Infants may present with feeding difficulties and recurrent, non-bilious vomiting. Older children may present with nausea, early satiety, and epigastric pain. Treatment for this type of gastric outlet obstruction typically requires surgical intervention.

In this clinical vignette, we present the case of an eight-month-old female presenting with feeding refusal, vomiting, and poor growth. Upper gastrointestinal contrast series revealed a congenital antral web. She was evaluated by the local pediatric surgeon but the parents preferred a less invasive approach. Therefore, she was referred to our institution for therapeutic endoscopy. Upper gastrointestinal endoscopy revealed a small membranous web in the antrum of the stomach. The opening in the web measured 6 mm in diameter. The patient underwent serial endoscopic balloon dilatation of the antral web increasing the lumen diameter to 15 mm. Symptoms resolved following endoscopic web eradication and concomitant feeding therapy. Two years later, her weight plots above the 75th percentile for age and she remains clinically asymptomatic.

Antral webs should be considered in the differential diagnosis of pediatric patients with non-bilious emesis, failure to thrive, and feeding difficulties. Endoscopic balloon dilation in lieu of surgery can resolve symptoms and result in improved outcomes without further surgical intervention.

 

74  ISOLATED SESSILE SERRATED ADENOMA IN A PEDIATRIC PATIENT

Rasha Adel Elmaoued, Kalyan Ray Parashette, Joshua Anspach Hanson, University of New Mexico School of Medicine, Albuquerque, NM, USA

Introduction: Sessile serrated adenomas of the colon are rare in the general population, with the prevalence being as low as 2% in clinical case studies and most being found in the right colon. To our knowledge, there are no case studies in the literature looking at these types of polyps in the pediatric population. These lesions have been proven to be premalignant in adult cases, making endoscopic removal necessary. However, polypectomy can be challenging as lesions are flat.

Case Description: A 17-year-old girl was seen in the gastroenterology clinic for two years for burning periumbilical and cramping bilateral lower quadrant abdominal pain. She had a fairly extensive work-up over the year prior at another center including two endoscopies that demonstrated chronic inactive gastritis and Candida esophagitis, an incomplete gastric emptying study but with concern for delayed gastric emptying, and an incomplete pH probe study. She had been on omeprazole 40 mg once a day for 1.5 years and had tried low dose amitriptyline for several months with no improvement in her pain. Her exam findings were only remarkable for mild tenderness throughout the abdomen. A repeat gastric emptying study done at our center was normal. We increased her omeprazole to 40mg twice a day but still showed no improvement and so it was switched to esomeprazole 40mg twice a day. Again, she showed no improvement. She had a fecal calprotectin done twice that was slightly elevated at 63 mg/kg and 109 mg/kg (normal <50mg/kg). We proceeded to do a repeat upper endoscopy with a wireless esophageal pH (Bravo) study and a colonoscopy with biopsies. The upper endoscopy showed a normal esophagus with no Candida and mild chronic inactive gastritis without Helicobacter pylori. The Bravo study was normal. She was incidentally noted to have a small (<10 mm) nodule in the ascending colon (Figure 1A) that was confirmed by biopsy to be a sessile serrated adenoma without dysplasia (Figure 1B). It was later removed via polypectomy. There is no known family history of colon cancer. Her abdominal pain was felt to be due to functional dyspepsia and she was weaned off of the esomeprazole and started on a trial of an antispasmodic.
Case Discussion: We believe that this is the first case report describing an incidental isolated sessile serrated adenoma in a pediatric patient. The endoscopy finding was subtle due to the small polyp size, confirming the fact that these can be difficult to identify on endoscopy. Thus, when in doubt it is important to obtain a biopsy to provide additional information. Given the lack of other findings on physical exam and work up that could suggest a genetic syndrome, treatment of such a lesion should be the same as an adult patient with an isolated sessile serrated adenoma, with polypectomy and follow-up colonoscopies every 5 years.

 

75  A NOVEL GERMLINE MUTATION IN EXON 15 OF THE ADENOMATOUS POLYPOSIS COLI GENE: TWO CASES OF ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Sang Yong Kim, Myung Seok Shin, Daejeon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Daejeon, Republic of Korea

Introduction: Familial adenomatous polyposis (FAP) is a precancerous clinical entity, which is characterized by the development of numerous adenomatous polyps throughout the colon and rectum. The majority of FAP are associated with mutations of the adenomatous polyposis coli gene (APC). Until now, more than 1,000 different APC mutations have been reported and some mutations express attenuated FAP phenotypes which are milder forms with 10-100 colorectal polyps and a 10~25-year delay onset of adenomatosis and colorectal cancer. We identified a novel mutation of APC gene which expressed an attenuated FAP in a brother and sister.

Case 1: A 16-year-old girl was referred to our hospital for evaluation of gastric polyposis. She had recurrent abdominal pain. Her father was suffering from a colon cancer. Upper endoscopy showed numerous gastric polyps in the fundus and upper body and a few polyps in the duodenum. Pathologic examination confirmed gastric polyps as fundic gland polyps and duodenal polyps as tubular adenomas. A few colonic polyps of 2 to 5 mm in size were found from ascending to descending colon on colonoscopy. Polypectomy was performed for about 5 mm-sized polyps which were confirmed as tubular adenoma with low grade dysplasia. Abdomen computerized tomography(CT) detected a 1.7 cm-sized adenoma in the right adrenal gland and a 1.2 cm-sized low density nodule at the liver. Multiple osteomas were found in the skull. Thyroid ultrasonography(US) found tiny cysts in both lobes. Genetic analysis using polymerase chain reaction and direct sequencing revealed a novel stop codon mutation in codon 1522 at the exon 15 of APC.

Case 2: A 14-year-old boy, a younger brother of case 1, had an upper endoscopy and colonoscopy. The upper endoscopy showed multiple gastric polyps in the fundus and upper body. There was no polyp in the duodenum and the colon. Skull X-ray, abdomen CT and thyroid US were performed in order to detect extraintestinal manifestations. He had multiple osteomas in the skull and benign thyroid nodules. Genetic analysis also revealed the same mutation at the exon 15 of APC.

 Conclusion: We reported a novel germline mutation in codon 1522 at the exon 15 of APC which expressed an attenuated FAP in a brother and sister.

 

76  SALBUTAMOL IN FOOD IMPACTION

Sofia Fernandes1, Susana Corujeira1, Eunice Trindade1, Marta Tavares1, Simon Murch2, Jorge Amil Dias1, 1Centro Hospitalar de São João, Porto, Serviço de Pediatria, Unidade de Gastroenterologia Pediátrica, Porto, Portugal, 2Warwick Medical School, Coventry, England, UK

Food impaction is a common form of presentation of eosinophilic esophagitis (EoE). Inflammation leads to a reduction of esophageal distension and dysfunction of the longitudinal muscle layer (ineffective peristalsis). Although endoscopic treatment and mobilisation or removal of the food bolus may be needed it may be useful to obtain pharmacological disimpaction at the emergency room. We report our experience using a β2 agonist to promote esophageal relaxation.

Seven adolescent patients with food impaction, admitted to the emergency department at a tertiary hospital, were given salbutamol orally. Dose was the same that would be used for nebulization in each case, mixed in 1ml of saline. In five patients there was resolution of symptoms in about 30 minutes. In the sixth patient there was improvement of chest pain but endoscopic disimpaction was needed and revealed a large piece of meat that was removed in various fragments before it could be mobilized into the stomach. The seventh patient improved drooling, but the impaction consisted of a medication pill retained in a stenotic segment. The diagnosis of EoE was confirmed in all patients by endoscopy and multiple biopsies.

Acute dysphagia or food impaction in EoE is probably caused by spasm of smooth muscle and dysmotility. Adrenergic influence on gastrointestinal smooth muscle has been demonstrated and β2-agonists are able to decrease the pressure and peristaltic speed in the lower two-thirds of the esophagus and the lower esophageal sphincter tone. By analogy with asthma, the β-adrenergic agonists such as swallowed topic salbutamol, may have potential benefit in the initial approach to impaction episodes at the emergency room. This limited observation may prompt controlled studies and larger number of patients to confirm efficacy.

 


77  SUCCESSFUL CHOLANGIOSCOPIC MANAGEMENT OF A TEEN WITH MIRIZZI SYNDROME

Einar Hafberg, Tom K. Lin, Jaimie D. Nathan, Andrew Trout, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA

Background: Mirizzi syndrome (MS) is an uncommon complication from biliary stone disease. Classically, the syndrome manifests as complete or partial biliary obstruction secondary to an impacted stone within the cystic duct resulting in extrinsic compression of the common hepatic duct. The mainstay of therapy with stone extraction and cholecystectomy has traditionally been an open surgical approach due to the challenges of successfully and safely performing the surgery laparoscopically. Endoscopic retrograde cholangiopancreatography (ERCP) has been used to confirm the diagnosis, delineate biliary anatomy prior to surgery and alleviate the biliary obstruction by temporary stent placement.

Cholangioscopy by means of a mother-daughter endoscope is a newly developed technology allowing for direct intraluminal visualization within the biliary tree with both diagnostic and therapeutic capabilities. We describe the successful employment of this technology in a pediatric-aged patient with MS to extract the obstructing stone and obviate the need for an open surgical procedure.

Case presentation: A 15-year-old male presented with two days of jaundice and right-sided abdominal pain. Murphy’s sign was present on physical exam. Biochemical lab abnormalities included total and conjugated bilirubin levels of 7.5 mg/dL and 6.1 mg/dL, respectively. Abdominal ultrasound revealed intra- and extrahepatic biliary ductal dilatation. Emergent ERCP was performed showing mass effect on the common hepatic duct (CHD) at the insertion of the cystic duct with upstream biliary dilatation suggestive of MS. A biliary sphincterotomy with plastic stent placement was performed to bypass the obstruction. Lab abnormalities normalized. Subsequent magnetic resonance cholangiopancreatography identified a large stone (1 cm diameter) within the cystic duct confirming the diagnosis of MS. Because of the patient’s obesity and concerns for the morbidity associated with performing an open surgery, there was a desire to identify alternative methods to treat the patient. Cholangioscopy with direct intraductal visualization was performed using a mother-daughter 3.3 mm outer diameter catheter, followed by successful stone fragmentation using electrohydraulic lithotripsy. Repeat cholangioscopy identified a patent cystic duct lumen at the previous location of the obstructing stone. The patient subsequently underwent an uneventful laparoscopic cholecystectomy and has since remained asymptomatic.

Discussion: This patient represents the first reported case of successful cholangioscopic treatment of MS obviating an open surgical procedure in a pediatric-aged patient. The newer technology allowing for cholangioscopy using a mother-daughter scope is a significant advance towards improving the care of children with hepatobiliary disorders. There is a need to identify additional applications of this technology to better define its efficacy and safety in the care of children.

 

78  SINGLE-CENTER CLINICAL INVESTIGATION OF PEDIATRIC FOREIGN BODY INGESTION AND ENDOSCOPIC MANAGEMENT

Toshihiko Kashiwabara, Fujishima Shyouichirou, Kei Kawagoe, Yamagata Prefectural Central Hospital, Yamagata, Japan

Introduction: Most accidents of a swallowed foreign body occur in infants  less than 5 years old. It is the duty of health care workers to give the checkered ingestion for children during infant checkup to prevent accidents. But when small accidents  happen, we are required to consider endoscopic treatment in our hospital, an example of foreign bodies in the digestive tract.

Methods: We retrospectively examined the 9 patients who swallowed foreign bodies in the digestive tract with endoscopic management in our hospital from 2007 to 2016.

Result: The age of cases ranged from 9 months to 13 years old, and the foreign bodies were a soda lid, button battery, coins, marble, golf pin, ring, magnet and drawing pin . Foreign bodies were located in five cases in the esophagus, three cases in the stomach, and one case in the duodenum. We removed the FB without complications in 8 cases, but it was impossible to remove a drawing pin in the duodenum. A ring swallowed by an 11-month-old patient  was difficult to remove. It was in the esophagus, and it was so difficult to remove directly that we dropped it in the stomach by endoscope and removed it by net. The duration of the operations ranged from  2 hours from 2 days. We carried out the procedure under general anesthesia for the under 1 year-old, and the others were treated with intravenous anesthesia.

Summary: For example, emergency cases have been reported that button batteries ingested in  the esophagus must  need to be removed by endoscope within two hours. We agree that button batteries in the stomach have to urgently be removed too . And we have to consider fully and check CT or X-ray in advance to determine the state of the foreign matter. We have to  accurately assess the timing for the best endoscope management by the expert.

 

GLOBAL HEALTH

 

102  LARYNGEAL CLEFT SERIES AT CHILDREN'S HOSPITAL AND MEDICAL CENTER IN OMAHA

Lina Castillo, Fernando Zapata, University of Nebraska Medical Center, Omaha, NE, USA

Introduction: A broad spectrum of congenital upper airway anomalies can occur as a result of errors during embryologic development. This is a review of our patients with laryngeal cleft, as clinical presentation, diagnosis, and management strategies. The diagnostic tools used in workup of these disorders range from radiological (swallowing) evaluation, indirect or direct laryngoscopy, and rigid bronchoscopy. While these congenital defects can occur in isolation, they are often associated with disorders of other systems. Therefore workup and treatment planning for patients with these disorders often involves a team of multiple specialists, including pediatricians, otolaryngologists, pulmonologists, speech pathologists, gastroenterologists, and geneticists. This report provides clinicians with relevant information regarding the treatment approach and surgical outcomes of patients with laryngeal cleft.

Methods: A retrospective study was conducted at Omaha Children’s Hospital and Medical Center, 40 files having laryngeal cleft in the problem list (in the last five years) were reviewed. 31 charts had the confirmed diagnosis. These charts were reviewed a tabulated for sex, race, age when the symptoms were noted, age by the time of the diagnosis, type of anatomical defect, treatment approach (surgery or not), outcome after surgery if it was done.

Results:   31 charts were reviewed.

61% males, 39% females.

68% of the patients presented symptoms during first 8 m/o of life (0-3 year-old). 77% of the patients were Caucasian.

13% (4) of the patients has deep inter-arytenoid notch, 80% (25) had type I and 7% (2) patients had type II.

The diagnosis of laryngeal cleft was suspected because respiratory symptoms in the majority of patients and it was confirmed with a video swallow x-ray, 29% had thin liquid aspiration, 16% nectar thicken fluid aspiration, 19% honey thicken fluid aspiration, 10% were reported with thin liquid penetration, 1 patient was normal (3%) , 2 patient had pureed aspiration (solid food) (7%) and not data in 16% of the patients.

38% (12) of the patients underwent surgical repair in our Institution or outside because of persistent respiratory manifestations. Two were type II (1 improved and one with partial improvement). 10 were type I . 7 of them had follow-up swallow x-ray, 3 of them did improve.Suggesting 42-50% improved with surgery. There is one patient awaiting surgery.

From the 62% (18), 78% (14) did improve. All (4) of the deep inter-arytenoid notch, and 10 the type I. Two patients with type I did not have follow-up data. Two cases were found as an incidental finding in x-ray or surgery without any symptoms.

The number of swallow x-ray for non-surgical patients were 2-3 (1-5) and for surgical cases were 3-4 (2-6).

Conclusion: Laryngeal cleft is an anatomical defect to be alert for in infants with respiratory symptoms, like noisy breathing, cough during feeds, or lower respiratory symptoms. Early diagnosis is important to decrease secondary comorbidities as feeding consistency needs modification. Most of the milder cases do get better with time and some others can require surgical intervention but still the outcome is not ideal. It is important to define an standardized approach looking to optimize outcome, minimize the number of swallow x-ray and define main risk/cofounding factors to define the need of surgical (QI project). Early suspicious/swallow studies and referral to multidisciplinary team is important.

 

103  A CHILD WITH APNEA: LOOKING BEYOND REFLUX

Shelly Choudhury, Susan S. Baker, Robert D. Baker, Sebastian Zavoian, University of Buffalo, Buffalo, NY, USA

Background: Gastroesophageal reflux is common in infants and peaks around 3 to 4 months of age. Controversy exists regarding the association of reflux with apnea, bradycardia, acute life threatening episodes (ALTE), and sudden infant death syndrome (SIDS). We report an infant with choking and cyanosis initially ascribed to reflux.

Case Presentation: A five-month-old infant, born at 33 weeks gestation, was diagnosed with bronchopulmonary dysplasia and reflux. Despite his mother's best efforts he was not able to consume enough 27kcal/oz formula to sustain normal growth. His mother noted that as the day progressed he appeared to be in discomfort, flailing his arms and pushing the bottle away. Occasionally he vomited. He had torticollis, generalized weakness and delayed motor development. He had a normal upper gastrointestinal series, swallow study and laboratory assessment. A percutaneous gastrostomy tube (PEG) was placed. After PEG placement he was extubated with difficulty and had an increased oxygen requirement over his baseline of 0.5 L. He gained weight on the G- tube feedings. He continued to have perioral cyanosis accompanying choking or gagging episodes, several times in a day, during sleep, and irrespective of feeds. Episodes of vomiting increased. Neither proton pump inhibitors (PPI) nor prokinetic agents improved his symptoms. Flexible laryngoscopy revealed mild arytenoid edema consistent with reflux. A 24 hour esophageal pH probe study showed no correlation with cough or cyanosis and reflux episodes. Electroencephalography was normal. Head ultrasound, magnetic resonance imaging of the brain ruled out arteriovenous malformation and Arnold Chiari malformations. Echocardiography showed an insignificant left to right shunt. Gastroesophageal emptying scintigraphy were negative for reflux and aspiration. Lung biopsy was suggestive of chronic pneumonitis of infancy. Finally, genetic testing showed he has a variant of the gene for Surfactant Protein C that causes deficiency of the protein. The mutation is a novel variant according to the genetics lab that performed the test. Surfactant Protein C Deficiency has a variable prognosis.

Conclusion: In our patient, the deleterious effects of GERD were overestimated.

Even when GERD appears likely, alternative diagnoses need to be considered, especially when GERD does not account for all of the symptoms. For instance, in the present case, interstitial lung disease should have been considered.

 

HEPATOLOGY

 

131  A RARE PRESENTATION OF NEPHRONOPHTHISIS, CIRRHOSIS, AND INFANTILE-ONSET AUTOIMMUNE DISEASE SECONDARY TO NOVEL STAT3 MUTATION

Albert Chan, Rebecca Abell, Nishaben Patel, University of Rochester Medical Center, Pediatric Gastroenterology, Rochester, NY, USA

Introduction: Nephronopthisis is an autosomal recessive disease of renal tubular dysfunction that progresses to end-stage renal disease and can occur in combination with liver disease such as congenital hepatic fibrosis. We present a case of a 22-month-old female with a leading diagnosis of nephronophthisis and concomitant autoimmune polyglandular syndrome.

Case: This is a case of a 22month-old female with a complex medical history including, failure to thrive (FTT), organic aciduria, chronic kidney disease (CKD) with nephrogenic diabetes insipidus, secondary hyperparathryoidism, G tube, severe eczematous dermatitis since birth, and milk protein allergy, who developed fever, pancytopenia, recurrent pancreatitis, worsening CKD and chronic liver disease of unclear etiology over a 6-month period. Extensive laboratory evaluation for etiologies of chronic cholestatic liver disease were negative. Immunology workup demonstrated 8% Double Negative T Cells and elevation in CD8 population concerning for possible autoimmune lymphoproliferative syndrome (ALPS).

Initial ultrasound showed heterogenous echotexture of the pancreas and liver. Doppler was normal. MRCP demonstrated a multinodular, fibrotic liver consistent with cirrhosis and features of portal hypertension. Liver biopsy revealed acute to subacute hepatitis with bile ductular proliferation and inflammation. Electron microscopy was unremarkable. A therapeutic and diagnostic paracentesis was performed showing normal transudative ascitic fluid. Given cirrhotic appearance of liver and chronic kidney disease, liver biopsy was repeated which showed mild to moderate lobular and sinusoidal chronic inflammation with minimal periportal fibrosis. Kidney biopsy was consistent with nephronophthisis. Interestingly, her blood sample was sent for whole exome sequencing which detected a novel STAT3 gene mutation.

Discussion: Nephronophthisis has multiple forms but given the patient's age, juvenile nephronophthisis (type 1) is most likely. This is an autosomal recessive disease in which a mutation in the NPHP1 gene is present in 30-60% of patients. While 85% of cases have isolated renal disease, 15% have associated hepatic fibrosis. This disease is thought to be in the family of ciliopathies. By whole exome sequencing however, this patient has a novel STAT3 mutation that can be seen in infantile-onset multisystem autoimmune disease and hyper-IgE recurrent infection syndrome.  This STAT 3 mutations likely explains her pancytopenia, endocrinopathies, severe dermatitis and FTT.

 

132  CHRONIC HEPATITIS E TREATED WITH RIBAVIRIN IN A KIDNEY TRANSPLANTED CHILD

Aurélie Sabard, S. Willot, S. Cloarec, E. Merieau, Z. Maakaroun-Vermesse, University Hospital of Tours, Tours, Center, France

Background: Chronic hepatitis E (CHE) is described in adults and children immunosuppressed patients, with potential progression to fibrosis. Reducing immunosuppression allows clearance of the virus in one-third of cases. In the remaining patients, anti-viral therapies, such as ribavirin have been successfully used in adult.

Case: A 10-year-old boy has had a kidney transplant at the age of one year for renal hypoplasia, complicated by chronic humoral rejection with chronic renal failure (clearance 21 ml/min).

Immunosuppressive medication consisted of tacrolimus, mycophenolate mofetil and steroids. Elevated liver enzyme level was detected during a systematic monitoring. No clinical symptom were remarkable. Results of serology and molecular testing for hepatitis A virus, hepatitis B virus, hepatitis C virus, cytomegalovirus, and Epstein-Barr virus were negative.

Immunosupressive treatment cannot be reduced in this situation. Hepatitis E was diagnosed 2 months later on the basis of positive result of anti-hepatitis E virus IgM antibody, anti-HEV IgG antibody stilled negative. Testing HEV RNA in serum and feces were positive. The patient did not report any recent travel, but he consumes pork meat. Six months later, HEV infection becomes chronic, with persistent elevated liver enzyme level and viremia motivating ribavirin therapy.

Initial ribavirin dose was adapted to renal function and was given at 140 mg (6 mg/kg) three times per week. Ribavirin trough level was measured at 2, 4 and 8 weeks for a target concentration between 1.5 and 2 mg/l. Treatment was well tolerated, our patient showed a decrease in hemoglobin from 11.2 g/dl to a minimun of 8.2 g/dl during therapy. Blood transfusion was not necessary.

Four weeks after initiation of ribavirin, both blood and stool were tested negative for HEV RNA. Liver enzymes decreased to normal level at six weeks. Ribavirin was discontinuated three months after HEV RNA negativation.

A sustained virological response was observed, defined as an undetectable serum HEV RNA for at least 6 months after cessation of ribavirin treatment. Seroconversion to HEV IgG positivity was observed 3 months later.

Conclusion: In our case, ribavirin is effective to treat chronic HEV infection in immunocompromised child and is well-tolerated. Monitoring for anaemia, renal function and ribavirin trough level was important to adjust the therapeutic dose and limit side effects. Preventive measures should be considered. Immunocompromised children should be advised to avoid eating undercooked pork, game meat or raw seafood.

 

133  ADENOMYOMATOSIS OF THE GALLBLADDER IN AN INFANT

CataLina Jaramillo, Ramakrishna Mutyala, Janet Harnsberger, Pediatric Gastroenterology, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA

Introduction: Adenomyomatosis is considered an acquired non-inflammatory gallbladder disorder that mainly affects adults. It is a relatively common disorder that has been reported in up to 2.8% to 5% of cholecystectomy specimens in adults. The pathogenesis, pathology, and indications for surgery in this condition are not well understood in children. We report the incidental finding of gallbladder adenomyomatosis in an 8-month-old infant. Based on a literature review, this is the youngest, asymptomatic, previously healthy patient with this diagnosis.

Case Report: An 8-month-old previously healthy female presented to our clinic for evaluation after incidental finding of gallbladder adenomyomatosis on an abdominal ultrasound (US). She had presented 7 days before to the emergency department with vomiting and was diagnosed with a urinary tract infection (UTI) and dehydration. A retroperitoneal US showed classic findings of adenomyomatosis and later a confirmatory US of the right upper quadrant again showed changes consistent with this disorder. Laboratory work-up showed normal total bilirubin, transaminases, alkaline phosphatase and GGT. The patient was diagnosed with klebsiella UTI and was prescribed Cefdinir for a total of 10 days. Birth history was unremarkable. Family history was significant for cholecystectomy due to cholelithiasis in an adult mother and maternal grandmother. On exam, patient was asymptomatic and normal for age.

Discussion: Adenomyomatosis of the gallbladder is defined as an acquired, hyperplastic lesion of the gallbladder. To date there have been 5 cases reported in patients < 18 years of age since 1998 and all have been symptomatic (abdominal pain) except one. In contrast to these previous case reports, our patient did not have any significant past medical history and did not have any other symptoms other than vomiting, likely due to UTI.

Although gallbladder adenomyomatosis is benign in nature, it is possible that lithiasis and chronic inflammation secondary to gallbladder adenomyomatosis may lead to dysplastic changes and cancer. Ultrasonography is the most sensitive tool for diagnosis. Findings on US include focal or diffuse thickening of the gallbladder wall, Rokitansky-Aschoff sinuses, intramural echogenic foci and twinkling (comet-tail) artifact on color Doppler sonography.

The association of gallbladder adenomyomatosis and gallbladder carcinoma is controversial. Cholecystectomy should occur if there is thickening or irregularity of the gallbladder wall, otherwise US surveillance is appropriate. Of the reported pediatric cases, cholecystectomy was indicated if patients were symptomatic. We plan to follow this patient with serial US.

Conclusion: Adenomyomatosis is a rare disorder in the pediatric age group and we report the youngest incidental case in the literature. Management strategies are not clear, continued US monitoring is a plausible option in an asymptomatic infant.

 

134  ASSOCIATION OF AUTOIMMUNE HEPATITIS TYPE 1 IN A CHILD WITH EVANS SYNDROME

Chaowapong Jarasvaraparn, David A. Gremse, Chinonyelum Obih, University of South Alabama, Mobile, Alabama, USA

Background: Autoimmune hepatitis (AIH) is a progressive liver disease that is often associated with other autoimmunologic disorders. Evans syndrome (ES) is a rare autoimmune disorder, which is associated with immune thrombocytopenia and autoimmune hemolytic anemia. AIH is often associated with other autoimmune disorders such as rheumatoid arthritis, Sjögren's syndrome, chronic thyroiditis and ulcerative colitis. Association with Evans syndrome is rare, especially in children. We report a 3-year-old-female with past medical history of Evans syndrome who presented with jaundice and significant transaminitis due to autoimmune hepatitis.

Case presentation: A two-year-old African-American female, previously healthy, presented with epistaxis and easy bruising for 2 months. Her liver and spleen were unremarkable. Her laboratory test showed hemoglobin 10 g/dl, hematocrit 30%, white blood cell 14800 cells/µl, platelet 61,000 cells/µl, Reticulocyte count 8.08%, coagulation studies were normal and the viral panels were negative. At the time Evans syndrome was diagnosed, her evaluation included a negative anti-nuclear antibody, positive warm autoantibody, positive Coombs test, positive platelet antibody and positive anti-C3. Her diagnosis of Evans syndrome was confirmed by the presence of autoimmune anemia and thrombocytopenia with positive Coombs test. After treatment with one dose of intravenous immunoglobulin and prednisone 2 mg/kg/day her hemoglobin improved from 8.4 to 10.9 g/dL and corticosteroids were discontinued. While receiving no medications 11 months later, she developed increasing jaundice and pruritus. Abdominal ultrasound showed hepatosplenomegaly with liver span 13-cm and increased echogenicity without gallstones. Her laboratory demonstrated aspartate aminotransferase 692 IU/L, alanine transaminase 544 IU/L, albumin 1.9 g/dl, total bilirubin 10.2 mg/dl and direct bilirubin 8.8 mg/dl. Moreover, her laboratory tests showed positive anti-nuclear antibody (1:40), positive smooth muscle antibody (1:40), positive F actin antibody (39 units), and elevated total serum IgG (1090 mg/dL). Anti-liver-kidney-microsome antibody, anti-HAV-IgM, HBsAg, anti-HBc, and anti-HCV were all negative. Serum alpha-1-antitrypsin and ceruloplasmin concentrations were normal. Liver biopsy revealed mild cholestasis (canalicular and hepatocytic), interface hepatitis with hepatocytic mixed inflammatory infiltrates including lymphoid cells, eosinophils, neutrophils, histiocytic cells and plasma cells), periportal fibrosis with rare portal-portal septa (stage 2 fibrosis). She was diagnosed with Type 1 autoimmune hepatitis and received prednisolone, azathioprine and ursodiol.

Discussion: To our knowledge, this is the first case report of autoimmune hepatitis and Evans syndrome in pediatrics. We conclude that evaluation for Evans syndrome as an associated autoimmune condition should be considered in children with a combination of autoimmune hepatitis, anemia, and thrombocytopenia.

 

135  MUCINOUS CYSTADENOMA: A RARE HEPATIC TUMOR IN A CHILD

Danielle Ferraguti Gerner, Regino Gonzalez-Peralta, Molly McGetrick, Ivan Zendejas, David Hernandez Gonzalo, Regino Gonzalez-Peralta, University of Florida College of Medicine, Gainesville, FL, USA

Introduction: Mucinous cystadenomas (MCA) are rare hepatic neoplasms that present with nonspecific symptoms or discovered incidentally. These lesions comprise 5% of cystic hepatic lesions and typically occur in middle-aged females. There are few reports of MCA in children.

Case Presentation: A six-year-old healthy male presented for evaluation of a liver mass seen on an echocardiogram that was performed for evaluation of a heart murmur. The patient was asymptomatic without abdominal pain, anorexia, vomiting, jaundice or other liver-related problems. Findings on physical examination were normal. An abdominal ultrasound (US) confirmed a cystic lesion in the left hepatic lobe with irregular peripheral walls. A follow-up abdominal computerized tomography (CT) revealed a well-circumscribed, multi-lobulated and septated cystic lesion measuring 5.5 cm x 4.2 cm x 5.2 cm in the left hepatic lobe. Results of liver tests, coagulation studies, and alpha fetoprotein (AFP), CA-19-9, and carcinoembryonic antigen (CEA) levels were normal. Abdominal magnetic resonance imaging (MRI) done seven months after initial imaging showed the same complex cystic lesion in the left hepatic lobe without interval change in size. The patient was evaluated every 6 months with labs and US. Results of liver tests and AFP remained normal but the lesion grew on US over the following 2.5 years, where an MRI of the liver (with Eovist) showed a complex multi-cystic lesion that measured 6.1 cm x 4.1 cm x 6.4 cm. Because of the increase in size and persistent complex nature of the lesion, the patient underwent exploratory laparoscopy that showed grossly normal hepatic parenchyma. A large mass was seen under the liver that nearly completely replaced the left lateral segment by laparoscopic US. A hybrid laparoscopic left lateral hepatectomy was performed with complete excision of the mass. On gross examination, the mass was a well-circumscribed structure that measured 7.3 cm x 5.8 cm. Serial sectioning revealed clear serous fluid and a cyst-like appearance measuring 3.6 cm deep with a ragged white lining. Microscopic evaluation revealed a mucinous-type epithelial lining (columnar and cuboidal) with bland basally located nuclei (low-grade dysplasia) and frequent papillary tufting of the cyst lining. The surrounding stroma was fibrotic (as opposed to the classic ovarian-type stroma). The patient’s post-operative course was uneventful and he remains asymptomatic 7 months after hepatectomy. His long-term follow-up includes surveillance abdominal ultrasound every six months for five years.

Our case describes an unusual MCA arising in a child. Because of its rarity in pediatrics, there are no clear treatment guidelines for MCA in children. Although generally considered a benign cystic tumor, complete surgical excision is usually recommended because of the potential for malignant transformation.

 

136  MARKEDLY ELEVATED SERUM ALPHA-FETOPROTEIN LEVELS NOT CAUSED BY HEPATIC MALIGNANCY IN TWO INFANTS WITH END STAGE LIVER DISEASE: A CASE SERIES

Eileen Crowley, JT Gerstle, F. Shaikh, PC Nathan, ML Greer, Y. Avitzur, V. Ng, Hospital for Sick Children, Toronto, Ontario, Canada

Background: Elevated Alpha Fetoprotein (AFP) is associated with malignant tumours such as hepatoblastoma, hepatocellular carcinoma, germ cell tumors, and various pediatric tumours such as pancreaticoblastoma and retinoblastoma. Because HCC develops in a small proportion of children with hepatobiliary diseases, serial AFP levels are utilized in the surveillance regimen of children with chronic liver diseases. Significant elevation in AFP in children with end-stage liver failure requires expedited and thorough investigations looking for potential sources of malignancy which may contraindicate eventual life-saving liver transplantation (LT).

Aims: To describe the clinical course of two infants with markedly elevated serum AFP levels, who underwent successful LT after negative extensive assessments for potential malignant tumours.

Methods: A retrospective chart review of the electronic records was undertaken. A systematic review of the medical literature was performed.

Results: Infant A was a term Asian female who presented at four months for first evaluation of persistent neonatal cholestasis. Expedited investigations confirmed a late (>100 days of age) diagnosis of biliary atresia. The patient was referred for primary LT candidacy assessment. Initial elevated AFP levels at time of listing was attributed to a regenerative nodule amidst a grossly cirrhotic liver. However, rapid doubling of AFP to a peak level of 91,621ug/L (normal < 275ug/L) over 4 weeks prompted placing the patient on hold to enable targeted investigations and consultations. No cause was identifiable, and after extensive discussions, the patient was reactivated. Live donor LT surgery was performed. Explant evaluation confirmed absence of HCC or other malignancy concerns.

Infant B was a term Asian male who presented at three months with synthetic liver dysfunction and persistent unexplained neonatal cholestasis. Intraoperative cholangiogram demonstrated drainage and liver biopsy was non-confirmatory, leading to a provisional diagnosis of neonatal hepatitis. Following referral for LT candidacy assessment, he was listed for LT. AFP peaked at 618,000ug/L by 16 weeks. He was placed on hold, whilst a thorough investigation for intra- and extra-hepatic involvement was expedited. A peripancreatic mass was noted on CT, but accessibility for biopsy proved too challenging. Although confirmation of malignancy could not be proven due to technical challenges, after extensive risk-benefit discussions, the patient underwent live donor LT. At explant evaluation, no malignancy was identified.

Conclusions: Serum AFP levels are helpful but are not absolute markers of malignant change. The mechanisms of AFP elevations in neonatal cholestasis are not known. The evaluation of an increasing serum AFP titre in a potential LT recipient may delay the procedure while an explanation is sought. In the absence of confirmatory extrahepatic involvement, LT should not be empirically contra-indicated.

 

137  FEVER IN A NEWBORN, COULD IT BE PERINATAL TUBERCULOSIS?

Hala Abdullatif, Hanaa El-Karaksy, Faculty of Medicine, Cairo University, Giza, Egypt

Fever in the newborn is an alarm for serious illness necessitating proper clinical and laboratory evaluation. Congenital tuberculosis (TB), a rare entity in TB, should be considered in the differential diagnosis of prolonged fever especially in patients living in endemic areas. Congenital or perinatal TB could spread either by hematogenous route resulting in primary liver disease or by aspiration of infected amniotic fluid with pulmonary and gastrointestinal involvement.

We herein report on a five-and-half-month-old Sudanese infant who presented with non-resolving fever from day 2 of life associated with failure to gain weight. He had hepatosplenomegaly with deteriorating synthetic functions. Infection workup was initiated. Imaging revealed infiltration of lungs, liver and spleen. Quantiferon was positive in spite of negative morning gastric aspirate for TB. A diagnosis of perinatal TB was established and antituberculous treatment was started with great response.

Diagnosis of perinatal TB requires a high index of suspicion. It usually presents with nonspecific symptoms; however, the presence of unremitting fever in a neonate is alarming and infections should be excluded.

 

138  BILATERAL HYPOPLASIA OF THE INTERNAL CAROTID ARTERY IN TWO JAPANESE PATIENTS WITH ALAGILLE SYNDROME

Koichi Ito1, Tokio Sugiura1, Shigeru Honda1, Takeshi Endo1, Takao Togawa2, Shinji Saitoh1, 1Nagoya City University, Nagoya, Aichi, Japan, 2Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan

Introduction: Alagille syndrome (ALGS) is a dominantly inherited multi-system disorder involving the liver, heart, eyes, face, skeleton, and other systems. The literature documents multiple case reports of intracranial vessel abnormalities and other vascular anomalies in ALGS. And also, unexplained intracranial bleeding is a recognized complication and cause of mortality in ALGS. To date, there have been only a few reported cases of bilateral hypoplasia of the internal carotid artery (ICA) in patients with ALGS. We report two new cases of bilateral hypoplasia of the ICA in two Japanese patients with ALGS.

Case 1: A one-month-old Japanese boy with a history of cholestasis was referred to our hospital. He also presented with a heart murmur, and an echocardiography showed peripheral pulmonary stenosis. He had neither characteristic face nor skeletal abnormalities nor posterior embryotoxon nor kidney abnormalities. He had no family history of ALGS, and his parents were not consanguineous. Exploratory laparotomy and intraoperative cholangiography was performed, and biliary atresia was excluded. The diagnosis of ALGS was made based on identifying the JAG1 gene mutation (c.765_766insCT). At two months of age, he had seizure-like episodes, and underwent head MRI and MR angiography (MRA). MRI revealed no apparent cause of seizure, but MRA showed hypoplasia of bilateral ICA and compensatory dilatation of the basilar artery. Hypoplasia of the bilateral carotid canal was confirmed at CT angiography. The seizure-like episodes resolved spontaneously after three months of age.

Case 2: An 11-year-old Japanese boy with a history of chronic hepatitis of unknown etiology was referred to our hospital. He had no history of infantile cholestasis. He had peripheral pulmonary stenosis, but it resolved spontaneously. He had a characteristic face. He had no posterior embryotoxon, but chorioretinal atrophy. He had neither skeletal abnormalities nor kidney abnormalities. His father had diabetes melitas, catalact, and chorioretinal atrophy. His parents were not consanguineous. The diagnosis of ALGS was made based on identifying the JAG1 gene mutation (whole gene deletion). Although he was neurologically asymptomatic, head MRI/MRA was performed to screen intracranial vessel abnormalities. MRA showed hypoplasia of bilateral ICA and dilatation of the vertebral artery. Left posterior communicating artery was dilated, and right posterior communicating artery was stenosed.

Discussion: It has been reported that the cerebral vasculopathy of ALGS involves predominantly the ICA. Known associations with hypoplasia of the ICA include an increased incidence of intracranial aneurysms. MRI with MRA was useful to detect hypoplasia of the ICA and may have a valuable role in screening for treatable lesions such as aneurysms in patients with ALGS. Follow-up studies are indicated to monitor for the development of aneurysms in these patients. They also may be at risk for cerebral ischemic damage secondary to alterations of cerebral blood volume or blood pressure during general anesthesia. Careful monitoring and maintenance of these functions during surgery would be needed. Bilateral hypoplasia of the ICA could be complicated in patients with ALGS.

Conclusions: Bilateral hypoplasia of the ICA is one of the complications of ALGS. MRI with MRA is needed to screen intracranial vessel abnormalities in neurologically asymptomatic patients with ALGS. Long-term follow-up should be performed to monitor for the development of aneurysms in these patients.

 

139  A CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IN A KOREAN BOY

Kwang Y. Kim, Jae S. Ko, Ju W. Kim, Kyung J. Lee, Jin S. Moon, Seoul National University College of Medicine, Jongno-Gu, Seoul, South Korea

Lysosomal acid lipase deficiency (LALD) is a disorder caused by deficiency of lysosomal acid lipase (LAL) activity, resulting in accumulation of cholesteryl esters. Patients have progressive hepatic dysfunction with dyslipidemia. A six-year-old boy presented with hepatosplenomegaly. At three years of  age, glycogen storage disease (GSD) was diagnosed by liver biopsy at another hospital. He was 107.3cm tall and 16.9kg in weight both below the 3rd percentile for his age. He had mild mental retardation. Blood tests revealed elevated hepatic transaminase levels (AST/ALT: 72U/L/70U/L), elevated total cholesterol level (226 mg/dL), reduced HDL-cholesterol level (19mg/dL) and elevated LDL-cholesterol (192 mg/dL). Abdominal MRI showed hepatomegaly with splenomegaly. The liver biopsy revealed clear cytoplasmic change of hepatocytes, foamy macrophages in portal tract, microvascular fatty change, intracytoplasmic cholesterol cleft and septal fibrosis. Dried blood spot testing revealed markedly decreased activity of LAL. Enzyme replacement therapy was started.

This is the first report of a Korean boy with LALD. LALD should be considered in the differential diagnosis of GSD because of their overlapping clinical and histological findings.

 

140  UNIQUE CASE OF HEMOLYTIC DISEASE OF THE NEWBORN DUE TO ANTI-C CAUSING SIGNIFICANT LIVER IRON DEPOSITION WITH SUBSEQUENT CHOLESTASIS AND LIVER DYSFUNCTION

Maheen Hassan, Denise Malicki, Jerry Dwek, Jenny Kim, Lauge Farnaes, Mamata Sivagnanam, University of California – San Diego/Rady Children’s Hospital, San Diego, California, USA

Introduction: Hemolytic disease of the newborn (HDN) is caused by maternal antibodies crossing the placenta and attacking fetal red blood cells. The c-antigen is the most clinically significant Rh antigen after D and can produce acute and delayed hemolytic reactions as well as severe HDN. While this typically manifests as unconjugated hyperbilirubinemia, anemia and iron overload, 13-60% present with cholestasis. Moderately increased liver iron has been reported due to increased deposition in utero, however in the absence of hydrops, liver damage is not frequently reported. Anti-c HDN also has never been reported in the absence of high maternal titers.

Case Report: A 27-year-old G4P2 A+ mother revealed low anti-c titers, measured at 1:2, throughout her pregnancy. Her newborn, the  patient, was noted to have jaundice and hepatosplenomegaly within day one of life. There was concern for alloimmune hemolytic anemia given Coombs positive anemia with Hg 5.7, reticulocytes 22%, antibody screen positive for anti-c antibody, and ferritin 3401. The patient also had cholestasis, elevated transaminases, and coagulopathy: total bilirubin 12.6, conjugated bilirubin 9.2, AST 356, ALT 65, INR 2.3.

A lip biopsy, performed to evaluate for Gestational Alloimmune Liver Disease (GALD), showed no iron deposits. Her MRI of the abdomen showed iron deposition within the liver, relatively sparing the left lobe, as well as iron deposition in the spleen, heart, and bone marrow. Bone marrow biopsy showed erythroid hyperplasia consistent with hemolysis. Qualitative testing for iron on liver biopsy showed iron deposition in both liver lobes, supporting prior studies’ findings of secondary hemochromatosis. Patient was given FFP and prbc’s initially, and then IVIG empirically to treat both potential GALD and hemolytic anemia. The patient gradually improved on Actigall and AquADEKS, with normal labs by 12 months of age.

Discussion: The patients’ Coombs positivity and positive anti-c antibody screen as well as clinical improvement overtime, suggest that the patient’s multiorgan iron deposition was due to secondary hemochromatosis from anti-c HDN. Extensive workup ruled out obvious causes of infection, metabolic disorders, thyroid dysfunction, and genetic diseases.

The patient likely had intrauterine hemolysis, causing accumulation of significant liver iron deposition, to the point of causing liver injury, cholestasis, and exceeding liver iron stores with subsequent deposition in spleen, bone marrow, and heart. This is unusual given maternal anti-c titers had been low during the whole pregnancy. No such cases have been reported. The asymmetric iron deposition seen on MRI favoring the left liver lobe may be due to physiologic fetal liver perfusion, with the umbilical vein perfusing the left lobe more than the right.

Conclusion: Anti-c has the potential to cause severe intrauterine hemolytic anemia causing liver damage and multiorgan iron deposition, even with low maternal titers.

 

141  BILIARY ASCARIASIS AS A CAUSE OF CHOLELITHIASIS IN A FOUR YEAR-OLD FILIPINO MALE PRESENTING WITH CHRONIC RECURRENT ABDOMINAL PAIN: A CASE REPORT

Maria Agatha C. Garcia, Joanna Maria D. Choa, Rebecca A. Castro, Mario Milo, University of Santo Tomas Hospital, Manila, Philippines

A four­-year-old Filipino male came in due to recurrent abdominal pain and jaundice. There was no family history of hemolysis. On physical examination, the patient had normal nutritional status with yellowish discoloration of the face and sclera. The abdomen was flat with normoactive bowel sounds accompanied by tenderness at the periumbilical and right upper quadrant. No hepatosplenomegaly was noted. Abdominal radiograph showed a radiopaque density at region of the right paravertebral area of the 11th and 12th thoracic vertebra. Biochemically, he had transaminitis and hyperbilirubinemia. Ultrasound findings revealed dilated right intrahepatic ducts and common bile duct. A non­-mobile, echogenic focus without posterior acoustic shadowing was seen within the gallbladder with associated slight thickening of the gallbladder wall. Findings suggest cholecystitis with echogenic focus probably representing ascaris remnants versus tumefactive bile. The patient underwent open cholecystectomy with intraoperative cholangiogram, common bile duct exploration, and t­tube insertion. Intra-operatively, the gall bladder wall was thickened with mucinous materials within, which probably represent ascaris carcass. Intraoperative cholangiogram showed hold-up of the dye at the distal common bile duct. Further exploration revealed a black-pigmented stone. The patient was given intravenous antibiotics and was sent home with an anti helminthic medication. Histopathologic findings were chronic cholecystitis with cholelithiasis.

 

142  GLYCOGEN STORAGE DISEASE TYPE III: A NEW MUTATION

Marta Ribeiro Silva1, Dulce Quelhas2, Henedina Antunes1,3, 1Unit of Gastroenterology, Hepatology and Nutrition, Hospital de Braga, Portugal, 2Centro de Genética Médica Doutor Jacinto de Magalhães, Centro Hospitalar do Porto, Porto, Portugal, 3Institute of Life and Health Sciences (ICVS); Health Sciences School of the University of Minho and Associated laboratory ICVS /3B’s, Braga/Guimarães, Portugal

A glycogen storage disease type III (GSD III), also knows as Cori disease, and Forbes disease, is inherited as an autosomal recessive trait, and it’s caused by mutations in the gene that encodes the glycogen debrancher enzyme, amyloglucosidase (AGL). The clinical manifestations vary depending upon the involved tissues (muscle and/or liver) and enzyme activities. In infants and children, GSD III usually presents with hepatomegaly and hypoglycemia due to liver and muscle disease. There is no specific therapy for GSD III, and the symptomatic treatment includes avoidance of hypoglycemia.

We present the case of a child of two-years-old, female, born in Senegal, referenced to Pediatric Gastroenterology Unit for abdominal distension and progressive limitation of physical activity, notably with intolerance to the efforts. The objective examination showed a doll face, liver palpated the 16 cm below the costal grid, on average-clavicular line, hard, painless on palpation and bloating marked (abdominal perimeter of 61 cm). Analytically, she presented glucose 20mg/dl, AST 1533U/L, ALT 613U/L, alkaline phosphatase 321U/L, total bilirubin 1.39mg/dl, direct bilirubin 0.88mg/dl, total cholesterol 541mg/dl and total creatine phosphokinase 812U/L, without other relevant changes. At this moment, based in clinical findings a glycogen storage disease type III was considered. Liver and muscle biopsy was performed and it showed morphological aspects of glycogen accumulation. Echocardiogram revealed concentric hypertrophic cardiomyopathy and renal ultrasound showed no changes in the size of the kidneys. Given that, genetic testing for GSD IIIa was performed, identifying a AGL gene mutation (c4482-?_4599+?Del), that result in deletion of exon 34, confirming the diagnosis. This mutation had not yet been identified in other cases of GSD IIIa. Dietary therapy regimen to prevent hypoglycemia began, with progressive improvement of abdominal distension and hepatomegaly and gradual increase of the tolerance for the activity of daily living.

We report this case to emphasize the importance of clinical history and physical examination findings in the diagnosis of diseases, as in this case based solely on the clinical findings it was possible suspect this pathology. Additionally, given the simultaneous involvement of the liver, skeletal muscle and cardiac muscle being a rare presentation of GSD III at young ages, perhaps due to this new mutation.

 

143  TYPE IB GLYCOGEN STORAGE DISEASE: A REPORT OF SEVEN CASES

Natascha Silva Sandy, Marina Mayumi Vendrame Takao, Adriana Gut Lopes Riccetto, Carlos Eduardo Steiner, Gabriel Hessel, Adriana Maria Alves De Tommaso, Faculty of Medical Sciences – University of Campinas, Campinas, SP, Brazil

Background: Glycogen Storage Disease (GSD) comprehends a group of uncommon inborn errors of metabolism resulting from an enzyme defect that leads to glycogen accumulation. The severity of the disease and extent of systemic consequences is highly variable: there are more than 10 different types/subtypes depending upon the enzymatic defect. Type Ib GSD causes clinically significant end-organ diseases with substantial morbidity. Besides classic manifestations of GSD – hepatomegaly, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia – there is associated neutrophil dysfunction and neutropenia, and therefore predisposition to severe infections.
Methods: The medical records of seven patients (2 siblings) with Type Ib GSD were reviewed, presenting the experience of a referral center over the last sixteen years.

Results: The mean age of the beginning of follow-up was 1.15 year – ranging from 6 months to 3 years and 5 months old, with median of 10 months. Regarding gender distribution, there were two females and five males. Diagnosis was based on clinical findings, laboratory results, liver biopsy – and in one case also supported by genetic studies (others have pending results). All patients presented neutropenia and recurrent infections, requiring Filgrastim: age of indication ranged from 1 year and 7 months to 9 years old, and maximum dose was tittered up to 17 mcg/kg/dose – three times/week. All patients were monitored for development side effects, with special attention to myelodysplasia and hematologic malignancies. Oral antibiotic prophylaxis was also established for four patients. And finally, one patient receives regular gamma globulin infusion. These measures were associated with a great reduction in recurrence of infections. The patient with the highest number of hospitalizations for infection treatment was admitted 11 times.

Treatment required very frequent consultation, regular hours for medication and administration of uncooked cornstarch, and following a restricted diet. Compliance and laboratory control was predominantly poor. Six patients continue their clinical multidisciplinary follow-up at our center: their current ages range from 3 years and 8 months to 10 years old. The first patient who started his follow-up in 2000 (9 months old) died of sepsis of unknown origin, at age 14 years 9 months. Two patients developed inflammatory bowel disease-like (Crohn’s like ileo-colitis). (Summarized data of their chart review is presented on the attached table).

Conclusion: Type Ib GSD is a rare autosomal multisystemic disease  involving, but not limited to metabolic disorders, hematological, gastrointestinal, and immune disorders. GSD-1b patients suffer severe infectious complications, due to neutropenia and the functional deficiencies of neutrophils and monocytes. In an attempt to reduce the complications of long-term treatment with granulocyte colony-stimulating factor, as well as antibiotic prophylaxis, are often indicated.

 

144  CLINICAL AND LABORATORY FEATURES IN MOLECULAR GENETICALLY CONFIRMED PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS/ BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS.

Shogo Ito, Tokio Sugiura, Takao Togawa, Takeshi Endo, Koichi Ito, Shinji Saitoh, Graduate School of Medical Sciences Nagoya City University, Nagoya, Aichi, Japan

Background: Progressive familial intrahepatic cholestasis (PFIC) is a chronic form of intrahepatic cholestasis characterized by onset in infancy with progressive clinical course. Genetic studies have identified two distinct mutated genes in PFIC patients with normal serum gamma glutamyl transpeptidase (GGT). PFIC1 and PFIC2 are caused by mutations in ATP8B1 encoding FIC1 and in ABCB11 encoding the bile salt export pump (BSEP). Benign recurrent intrahepatic cholestasis (BRIC) is characterized by intermittent episodes of cholestasis without progression to liver failure. We evaluated clinical and laboratory features in molecular genetically confirmed patients with PFIC/BRIC.

Methods: In three patients, molecular genetic diagnosis was accomplished by direct sequencing of cDNA from liver tissues. In the other six patients, next generation sequencing (NGS) with a custom panel of 18 genes ( JAG1, NOTCH2, ABCC2, SLC25A13, ATP8B1, ABCB11, ABCB4, TJP2, HSD3B7, AKR1D1, CYP7B1, VPS33B, BAAT, EPHX1, SLC10A1, ABCB1, SLC4A2, and SLCO1A2) was applied to identify causative mutations (Togawa T, et al. J Pediatr 2016). The panel was made with Ampliseq, and sequenced by Ion Torrent PGM system. Sequenced data was analyzed using three independent bioinformatics tools, CLC Genomics Workbench, Torrent Suite software, and Ion Reporter. Pathogenic mutations were confirmed from mutations in Human Gene Mutation Database, computational predictions, and allele frequency based on Japanese ethnicity.

Results: We identified two patients with compound heterozygous mutations in ABCB11 (FIC1 deficiency) and seven patients with compound heterozygous mutations in ATP8B1 (BSEP deficiency). Median onset of cholestasis was 2.5 (1-9) months. There were five girls and four boys. Four patients had pale-pigmented stools. Three of 7 with BSEP deficiency had coagulopathy and intracranial hemorrhage. No infants had extrahepatic symptoms even in patients with FIC1 deficiency. Liver biopsies was performed in seven infants, and four of them had giant cell hepatitis. Two of 7 infants with BSEP deficiency underwent living donor liver transplantation. Median laboratory data in FIC1 and BSEP deficiency were as follows; T-Bil 11.4 and 8.8 mg/dL, DB 8.2 and 6.0 mg/dL, AST 51 and 142 IU/L, ALT 30 and 85 IU/L , GGT 34 and 27 IU/L, total bile acids 250 and 520 μmol/L, respectively.

Discussion: Our study showed clinical characteristics of genetically confirmed patients with PFIC/BRIC. It is of note that three of 7 (43%) patients with PFIC2 developed intracranial hemorrhage due to vitamin K deficiency. Infants with cholestasis are at risk for developing secondary vitamin K deficiency because of fat malabsorption and inadequate dietary intake. Therefore, infants with intracranial hemorrhage should be evaluated for cholestatic liver disease including BSEP deficiency. Furthermore, vitamin K supplementation is crucially important for such patients.

Our study clearly demonstrated genetic analysis is useful to distinguish FIC1 deficiency from BSEP deficiency.

 

145  HEPATOCELLULAR CARCINOMA IN A PATIENT WITH NIEMANN PICK DISEASE TYPE C

Teena Sebastian1, Thomas Fishbein2, Holly Meany3, Marie Nelson3, Vahe Badalayan3, Muhammad Khan3, Clarivet Torres3, Parvathi Mohan3, 1University of Texas Southwestern Medical Center, Dallas, TX, USA, 2Medstar Georgetown Transplant Institute, Washington, DC, USA, 3Childrens National Health System, Washington, DC, USA

Introduction: Niemann-Pick disease (NP)is an autosomal recessive lysosomal storage disorder with a prevalence of about 1 in 150,000. This disease is characterized by defective lipid trafficking and storage secondary to sphingomyelinase deficiency, leading to progressive, degenerative neurocognitive dysfunction. There are very few case reports in the literature of hepatocellular carcinoma (HCC) developing in patients with NP. In this case report, we describe a patient with NP Type C who developed HCC.

Case: The patient is a 13-year-old Caucasian male who was diagnosed with NP Type C at three years of age. At eight weeks of age he developed cholestatic jaundice and the liver biopsy was consistent with neonatal giant cell hepatitis. He was monitored over time and was noted to develop splenomegaly. A repeat liver biopsy at age three, was suggestive of NP Type C, confirmed with a bone marrow aspirate and skin biopsy.

He was monitored annually with CT scans of the abdomen and pelvis with the last one performed at age seven. He was also started on Miglustat and Cyclodextran as a part of a clinical trial and followed by the trial medical team. No regular liver tumor screening was subsequently performed.

The patient presented to our institution at 12 years of age with fever, acute ascites and sepsis and responded promptly to IV antibiotics. Initial labs were remarkable for anemia, mild thrombocytopenia, and mild transaminitis. Serum alpha fetoprotein was markedly elevated at 52,000 IU/mL. Abdominal sonogram showed hepatosplenomegaly, cirrhosis, ascites, portal vein thrombosis and a possible liver mass. CT abdomen confirmed left portal vein thrombosis, spleno- renal shunt and nodular enlargement of the left lobe of the liver. MRI of the abdomen showed a solid mass in the left lobe and a smaller one in the right lobe with tumor infiltration into the left portal vein. Liver biopsy of the tumor was consistent with (HCC). He subsequently underwent a left hepatic lobectomy along with left portal vein reconstruction. Pathology of the excised left lobe mass was also consistent with HCC. He was then started on chemotherapy. Due to residual disease post operatively he received sixcycles of chemotherapy with Cisplatin, Doxorubicin and Sorafenib. MRI imaging at end of therapy did not demonstrate evidence of HCC and the alpha fetoprotein level normalized to 2.4 IU/mL.

Conclusion: The incidence of HCC in patients with metabolic liver disease is low but does happen as a result of chronic hepatocellular injury leading to dysplasia. Routine screening with serum alpha fetoprotein and liver imaging may be helpful in early diagnosis of such cases.

 

146  TENOFOVIR DISOPROXIL FUMARATE TREATMENT DURING PREGNANCY SUCCESSFULLY PREVENTED MOTHER-TO-CHILD TRANSMISSION OF HEPATITIS B VIRUS INFECTION

Yasuhiro Wakano, Tokio Sugiura, Takeshi Endo, Koichi Ito, Yasuhito Tanaka, Shinji Saitoh, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Aichi, Japan

Introduction: While hepatitis B immunoglobulin (HBIG) and hepatitis B vaccine joint immunoprophylaxis has reduced mother-to-child transmission of hepatitis B virus (HBV), 5% to 10% of newborns from hepatitis B surface (HBs) antigen and hepatitis B e (HBe) antigen double-seropositive mothers remain unprotected. The major risks of chronic HBV infection in the immunization era are maternal HBs/HBe antigen positivity and high maternal viral load. Previous observational study demonstrated that the predictive rates of infant infection were 6.6%, 14.6%, 27.7% with maternal viral load levels of 7, 8, and 9 log copies/mL, respectively. Antiretroviral pregnancy registry in pregnant human immunodeficiency virus-positive women who have received lamivudine or tenofovir disoproxil fumarate (TDF) have demonstrated no increased risk for mothers or infants.

Patients: A 37-year-old Japanese woman had a high HBV titer and was followed as an asymptomatic carrier. Her HBs antigen and HBe antigen were both positive. Her laboratory data were as follows; AST 23 IU/L, ALT 17 IU/L, HBs antigen (CLEIA) 56,546 IU/mL. HBe antigen (CLEIA) 9,068 COI, HBe antibody negative, HBV DNA 9.1 log copies/mL, and genotype C. Her first daughter was born at 41 weeks of gestation by normal vaginal delivery. She was HBs antigen-negative at 1 month, but she became HBs antigen-positive at 6 months, even though she had received HBIG at birth and 2 months and HB vaccines at 2, 3, and 5 months. Her laboratory data were as follows; AST 51 IU/L, ALT 14 IU/L, HBs antigen (CLEIA) 1,088 IU/mL, HBe antigen (CLEIA) 10,000COI, HBs antibody (CLEIA) 22 IU/mL , HBe antibody negative, HBc antibody (CLEIA) 82.4 COI, HBV DNA 6.6 log copies/mL, and genotype C.

Methods: To prevent mother-to-child infection of HBV in her second pregnancy, the mother was treated with TDF starting at 22 weeks of gestation because of threatened premature delivery. Written informed consent was obtained from the patient. This study was approved by the ethical committees of Nagoya City University.

Results: The mother’s viral load decreased to 4.0 log copies/mL at delivery. TDF treatment was stopped one month after delivery. After stopping TDF, her viral load increased to 9.1 log copies/mL. The mother had no transaminase elevation before and after antiviral therapy. Her second daughter was born at 38 weeks of gestation by normal vaginal delivery. She had HBIG at birth and 2 months and HB vaccines at birth, 1, and 6 months, and her HBs antigen was negative at 1 year. Her laboratory data were as follows; AST 40 IU/L, ALT 17 IU/L, HBs antibody (CLEIA) 1,000 IU/mL, HBc antibody (CLEIA) 11.3 COI.

Discussion: TDF (pregnancy category B) is categorized safer than lamivudine (pregnancy category C) by the Food and Drug Administration. A reduction of maternal viral load in the peripartum period is anticipated to prevent transmission.

Conclusion: TDF therapy during pregnancy was safe and effective in preventing mother-to-child infection of HBV in the mother who had a high HBV titer.

 

147  PATIENTS WITH WILSON DISEASE TREATED WITH ZINC ACETATE MIGHT DEVELOPE RENAL TUBULAR DAMAGES; A REPORT of 3 CASES

Yoshinori Satomura, Yasuhiro Hasegawa, Akiko Konishi, Kie Yasuda, Kazuhiko Bessho, Yoko Miyoshi, Keiichi Ozono, Osaka University Graduate School of Medicine, Suita, Osaka, Japan

Background: Zinc acetate has been used as the first-line medication for patients with asymptomatic or presymptomatic Wilson disease (WD), because zinc has been reported to have fewer side effects compared with other medications for WD such as D-penicillamin and trientine. Some patients may show gastric irritation and biochemical pancreatitis, but they are usually tolerable. On the other hand, zinc is a heavy metal, which may cause renal tubular damages. Here we report three patients who developed renal tubular damages during zinc therapy for WD.

Case 1: A 9-year-old boy was diagnosed to have WD based on urinary Copper (Cu) excretion after penicillamine challenge. He presented with Kayser-Fleischer ring, and his liver biopsy showed cirrhosis. Initially, he received both trientine and zinc acetate, but after 1 year, trientine was discontinued because his liver function test had been stable. Although his serum albumin levels as well as his liver function tests were stable on zinc monotherapy, he was found to have proteinuria and his liver function gradually deteriorated three years later. Furthermore, 2-microgloburin ( 2MG) and N-acetyl- -D glucosaminidase (NAG) were elevated in his urine tests. Hematuria was not detected. His abnormal urine tests persisted for two years. One month after the conversion from zinc to trientine, his proteinuria disappeared and urinary 2MG and NAG were normalized.

Case 2: A 9-year-old boy was found to have slightly elevated liver function tests and fatty liver on ultrasound. WD was diagnosed based on his elevated urinary Cu excretion. Zinc acetate was started. Although his liver function tests and fatty liver were improved, three years later, urinary 2MG and NAG started to increase, and since then, his renal tubular damages have been sustained for three months.

Case 3: An eight-year-old boy was diagnosed with WD based on low serum ceruloplasmin levels and liver biopsy. He started to received zinc and trientine. Because his liver function tests normalized soon after the initiation of the therapy, trientine was discontinued after one year and he was on zinc monotherapy. His liver function tests and serum albumin levels had been stabled after the conversion, but four years later, his urinary 2MG and NAG began to elevated and have persisted for six months.

Discussion: It is known that renal tubular damage is one of complications of WD. But in our cases on zinc therapy, they developed signs of renal tubular damages despite of their normal liver function tests and urinary cupper excretion, a potential indicator of efficacy for zinc therapy. Furthermore, discontinuation of zinc acetate diminished urine 2MG and NAG in one of our cases (Case 1). Therefore, at least in part, zinc acetate might cause renal tubular damages in patients with WD.

Conclusion: Patients on zinc therapy might stay at the risk of developing renal tubular damages, and rigorous follow-up is necessary during zinc therapy.

 

INFLAMMATORY BOWEL DISEASE

 

192  HYPERCOAGULATION AND PEDIATRIC INFLAMMATORY BOWEL DISEASE: A CASE REPORT

Wenly Ruan, Ashish S. Patel, Mark Shamoun, University of Texas Southwestern, Dallas, TX, USA

Inflammatory Bowel Disease (IBD) has long been associated with hypercoagulable disorders. The exact pathophysiology is not well known. It has been demonstrated in adult studies that there is an increased risk for venous and arterial thrombosis and pulmonary embolism in patients with IBD. This risk is believed to be significantly increased during times of disease flare1-3. Based on this information, practice guidelines in hospitalized adult IBD patients include prophylactic anticoagulation. This differs compared to the pediatric population as there seems to be less known about the exact prevalence and risk of VTE and safety of anticoagulation in children.

We present a case of a girl with ulcerative colitis (UC) who developed significant toe ischemia while hospitalized for an acute flare in order the demonstrate the importance of 1) considering the possibility of VTE in a pediatric IBD patient while hospitalized 2) discuss the importance of further studies in children with regards to hypercoagulation and inflammatory bowel disease.

Case Presentation: An 11-year-old female with ulcerative colitis presented to Children’s Medical Center Dallas in March 2015 with two weeks of increased bloody stools, nocturnal stools, vomiting, and decreased oral intake. She had up to 7-8 loose bloody stools during the day which was increased from her baseline of 1-2 non-bloody formed stools and had up to four nocturnal stools per night which was also increased from her baseline of none. In the two days prior to presentation, she had two episodes of non-bloody non-bilious emesis associated with decreased oral intake. She denied having any fevers, abdominal pain, joint pain, weight loss, vision changes, or new lesions. However, she did have a mild cough for the last week for which she was treated with five days of azithromycin without resolution of her symptoms.

Her past medical history is significant for ulcerative colitis that was diagnosed in 2006 after she experienced constipation, poor feeding, and rectal bleeding. She was initially refractory to steroid therapy so she was started on sulfasalazine. She was in remission for some time until her mom decided to take her off of medications. Since then, there were multiple occasions prior to this admission of her mom stopping her medications which subsequently led to hospital admissions for acute flares. Her medication regimen included mesalamine enemas, mesalamine suppositories, oral mesalamine, oral prednisone (started 09/2014 and weaned off 02/2015), and a probiotic twice daily. There were previous discussions about starting a biologic versus immunomodulatory medication as maintenance therapy given mom’s concern for side effects related Lialda. Mom also refused escalation to immunomodulatory or biologic therapy because of fear of side effects. Prior to this admission, the patient had stopped taking Lialda and was only taking VSL #3. Her past surgical history included eye muscle procedure for exotropia and multiple esophagogastroduodenoscopies (EGD) and colonoscopies. Her last EGD and colonoscopy prior to admission was in September 2014 which was grossly normal but biopsies showed mild active inflammation of the colonic mucosa and chronic inflammation of the gastric body and antrum. Family history is significant for diabetes and hypertension in her father. Social history was noncontributory.

Her physical exam on presentation was only significant for obesity. Initial labs on presentation included normal electrolytes, UA without nitrites or leukocytes, slightly decreased albumin of 3.1 g/dL (nl 3.6-5.1 g/dL), CBC which showed WBC count of 13.1 thousand/mm3, hemoglobin of 10 g/dL (roughly around her baseline), hematocrit of 33.1, and platelets of 392 thousand/mm3, ESR of 28 mm/hr (nl 0-15 mm/hr), CRP of 3.97 mg/dL (nl 0-1 mg/dL), stool studies including negative C. Diff PCR, negative stool culture, and negative crypto and giardia, and fecal calprotectin of 329 mcg/g (nl <50 mcg/g). She was started on a golytely clean out and got an EGD and colonoscopy two days after admission. The EGD was grossly normal. The colonoscopy showed significant ulceration and erythema of the entire colon. Her biopsies showed mild-moderate crypt architecture changes in the colon with dense lymphoplasmacytic infiltrates. Patient was then started on IV solumedrol with plans to restart sulfasalazine in the future. She continued on treatment without significant improvement in her PUCAI score (roughly 65 majority of the time) so after significant discussion of options, mom decided to pursue surgical options. While completing the workup to prepare for surgery which was roughly two weeks from day of admission, the patient’s left great toe was noted to be swollen and discolored. She had mildly decreased sensation of that toe with good perfusion. (will include visual documentation of toe and progression) Based on the appearance of the toe, there was concern for ischemia secondary to an unknown etiology. Infectious disease, orthopedic surgery, rheumatology, and vascular surgery were consulted. Vancomycin and Zosyn were started given concern for embolic event. Echo was negative without any evidence of thrombus. CT angiography was performed which was negative for venous or arterial occlusion. Hematology workup was obtained which was significant for elevated factor 8 activity, fibrinogen, and D dimer; these results were discussed with the hematology service and it was felt that these could all be elevated during times of inflammation. Rheumatology work up was negative including lupus panel, ANCA, MPO/PR3, and 24 hour urine collection. A punch biopsy was obtained the following day by dermatology which did not show evidence of vasculitis or concern for septic emboli given minimal inflammatory infiltrate. On the biopsy it was noted that the superficial vessels showed more plugging than the deeper vessels. It was decided to closely monitor that toe with dermatology, orthopedic surgery, and vascular surgery. Steroids were restarted. Patient then had a colectomy four weeks from day of admission which she tolerated well. While she was recovering from her colectomy, it was noted that it remained stable. On follow-up appointments, her toe actually completely healed after her ulcerative colitis was under control without any hematological treatments.

Discussion: This case highlights the importance of hypercoagulability in pediatric inflammatory bowel disease. While this is largely acknowledged in the adult population; there is not as much information on this association in pediatrics. The etiology of this hypercoagulable state during times of significant inflammation is not completely understood.

 

193  VEDOLIZUMAB USE IN PEDIATRIC INFLAMMATORY BOWEL DISEASE

Ayesha Fatima, Oakland University William Beaumont Hospital, Royal Oak, MI, USA

Vedolizumab, a humanized monoclonal antibody against the α4β7-integrin, is the first gut-selective monoclonal antibody that has been approved for the treatment of moderate-to-severe Inflammatory bowel disease (IBD) in adults. We have limited data available regarding off-label use in pediatric IBD. We aim to describe our experience of vedolizumab in pediatric IBD patients.

Methods: Retrospective data base identified pediatric IBD patients receiving vedolizumab for Crohn’s or Ulcerative colitis. Children between ages of 14-19 with refractory IBD receiving vedolizumab were included. Indications for starting vedolizumab was determined by the primary gastroenterologist. Dosing was 6 mg/kg with maximum of 300 mg at 0, 2 and 6 weeks followed by maintenance phase at 4-8 weeks intervals based on the response.

Results: Six patients with Crohn’s disease and two patients with Ulcerative colitis received the induction regimen at 0, 2 and 6 weeks. The mean age was 16.25. All patients had failed at least one biologic or immunomodulator or both. All but one had moderate to severe disease. Four patients required dose interval changes to every 4 weeks, with significant improvement. There were no serious infections, or infusion reactions. One patient reported headache after infusion lasting for two days, which resolved with oral prednisone.

Conclusion: In our experience, vedolizumab is safe in pediatric IBD patients. We noticed by decreasing the interval of vedolizumab to every four weeks, we were able to accelerate the response in half of the patients. Further studies need to be conduced to demonstrate the efficacy of frequent infusions of vedolizumab earlier in the treatment course.

 

194  PEDIATRIC HIV-INFECTED PATIENT WITH CONCOMITANT ULCERATIVE COLITIS

Jessica Breton, Valérie Marchand, Fatima Kakkar, Natalie Patey, Sainte-Justine University Hospital Center, University of Montreal, Montreal, QC, Canada

Introduction: The gastrointestinal (GI) tract is often affected in human immunodeficiency virus (HIV) infection. A variety of HIV-associated inflammatory, infectious, and neoplastic GI diseases have been described. Although ulcerative colitis (UC) and HIV infection may coexist, published literature is limited to case reports and retrospective studies. To our knowledge, this is the first reported pediatric patient with UC and HIV.

Method: We reviewed our patient’s chart and performed a literature review with PUBMED using the terms human immunodeficiency virus, acquired immunodeficiency syndrome combined with inflammatory bowel disease and/or anti-TNF.

Case presentation: We describe a patient with perinatally acquired HIV who had been on HAART therapy since infancy. He had CD4 counts above 300 cells/ml, undetectable viral load and no history of opportunistic infections. At 14 years of age, he presented with bloody diarrhea. Stools tested positive for C. difficile, colonoscopy revealed a left-sided colitis with chronic inflammatory changes on histology compatible with UC. Cytomegalovirus (CMV) and other viral, bacterial, and parasitic infections were ruled out. CD4 count was 500 and viral HIV load was undetectable. He responded to steroids and metronidazole and was started on mesalamine. Eight months later, he presented with recurrence of bloody diarrhea. Colonoscopy showed severe left sided colitis with histologic findings compatible with CMV colitis. While serum CMV PCR was 0, PCR on rectal biopsy was 705676 copies/mL. Stools tested positive for C. difficile. CD4 count was 396 and viral HIV load undetectable. He responded initially to steroids, gancyclovir and vancomycin but was readmitted with severe anemia 2 weeks later. Colonoscopy revealed active colitis. Histologic findings of apoptosis were suggestive of HIV enteropathy with no evidence of CMV or other infections. Circulating CD4 count was 336. HAART therapy was optimized. He did well for three months but eventually presented with IBD flare-up refractory to IV steroid. Infliximab was initiated with immediate clinical response.

Conclusions: To our knowledge, this is the first reported pediatric patient with both HIV infection and UC. GI symptoms in HIV patients may have infectious, inflammatory or neoplastic etiology. Identification of one pathology should not forestall the search for concomitant disease as illustrated by this case. Despite appropriate circulating CD4 count, our patient developed CMV colitis suggesting mucosal CD4 depletion in context of HIV. Management of IBD in such patients may be challenging. Current literature suggests that HIV-infected patients with adequate pre-treatment CD4 count may be treated with anti-TNF. Long-term follow-up with regular CD4 counts will confirm the safety and efficacy of anti-TNF in our patient.

 

195  INTRAVENOUS IMMUNOGLOBULIN IN CROHN'S DISEASE REFRACTORY TO CONVENTIONAL THERAPY

Joanna Niklinska-Schirtz1,2, Courtney Thompson1, Drago Tolosa1, 1Children’s Hospital at Erlanger, Chattanooga, TN, USA, 2University of Tennessee – Chattanooga, Chattanooga, TN, USA

Introduction: Crohn’s disease (CD), has an increasing incidence worldwide. Therapeutic options, although expanding, still fall short in the treatment of some of the most complicated cases. Intravenous immunoglobulin (IVIg) is routinely used in a large number of autoimmune, allergic, and inflammatory diseases. Little data is available for IVIg use in CD, however, there have been reported cases that have successfully led to disease remission.

Case Presentation: A 14-year-old male, previously healthy, presented to the emergency department with a four-day history of abdominal pain, diarrhea, and a one-day history of hematochezia. In view of his large stool output, he was admitted to the hospital, placed on TPN, ciprofloxacin, and metronidazole. Stool cultures returned negative. Colonoscopy findings revealed diffuse pancolitis with thick folds, extreme friability, and exudate throughout the colon. The terminal ileum appeared normal, and the histopathology came back most consistent with the clinical impression of Ulcerative Colitis (UC). In addition, the IBD serology obtained favored UC. The initial esophagogastroduodenoscopy (EGD) showed reflux esophagitis, but was otherwise normal. Post procedure, the patient was started on methylprednisolone IV and eventually sent home on oral prednisone. In view of outpatient clinical deterioration, infliximab infusions were started two weeks later.

In light of persistent clinical deterioration, a second opinion confirmed UC and the decision for a total colectomy/ileostomy was agreed upon after failing infliximab therapy. Two months later, a follow-up EGD/ileoscopy and proctoscopy revealed active inflammatory changes in the terminal ileum with histological confirmation of CD. At the time, adalimumab injections were started and the patient remained stable for three months until a massive increase in ileostomy output (4-6 liters/24hrs) warranted re-admission to the hospital. Subsequent ileoscopy confirmed active CD breaking through adalimumab therapy. IV steroids were restarted but after ten days, there was no improvement with the high volume stool output. With parental consent, a trial of off label IVIg (0.8grams/kg) for four days achieved suppression. Ileostomy output decreased to 1-2 liters/24hrs. To maintain remission, vedolizumab infusions were started and the patient has been in stable remission for one year.

 Conclusion: Only a few cases have been reported in the last twenty years of the use of IVIg in patients with CD that are refractory to conventional treatment. Available published literature is mainly in adult patients and is very limited. Future random controlled trials are needed to assess IVIg as an alternative treatment for patients resistant to gold standard anti-tumor necrosis factor therapy.

 

196  ACUTE LIVER FAILURE AND IMMUNE DYSREGULATION

Jody Weckwerth, Samar Ibrahim, Thomas Smyk, Mayo Clinic, Rochester, MN, USA

A subset of children with acute liver failure (ALF) of unknown etiology often have stigmata of immune dysregulation but do not fulfill the diagnostic criteria for hemophagocytic lymphohistiocytosis (HLH). These children are at a higher risk of requiring liver transplantation or of dying within three weeks of presentation compared to those with ALF of unknown etiology without immune dysregulation. We report here three children with ALF of unknown etiology with evidence of immune activation/dysregulation. Two of the three were listed for liver transplantation. All three patients were treated with IV steroid (2 mg/kg/day) once infectious causes of ALF were ruled out. All three patients improved with steroid treatment with resolution of the ALF in 2 cases. These two children were discharged home on a tapering course of prednisone. One of them was completely weaned off steroid and was maintained on azathioprine alone. Both patients continue to do well at 2 years and 3 years respectively after their initial presentation. The third patient had worsening ALF after an initial response to IV steroid. He was then treated with intravenous immunoglobulin (IVIG) for 2 days (1 gram/kg/day) as a nonspecific immunomodulator. This treatment was successful and he was discharged home on oral prednisone. He continues to do well on azathioprine and low dose prednisone at 6-month follow-up. Immunomodulation using steroid along with IVIG should be considered once all infectious etiologies have been excluded in children with ALF of unknown etiology who have evidence of immune dysregulation but who do not meet criteria for HLH. Such an approach may prevent fulminant liver failure and increase the chance of survival with the native liver.

 

197  DISSEMINATED HISTOPLASMOSIS IN A PEDIATRIC CROHN'S PATIENT ON INFLIXIMAB THERAPY

Linda Wang, Jonathan Moses, Shahrazad Saab, Ali Salar Khalili,Rainbow Babies and Children's Hospital, Cleveland, OH, USA

Anti-tumor necrosis factor (anti-TNF) medications, such as infliximab, are indicated for treatment of moderate to severe pediatric Crohn’s disease. Although an effective therapy, there is an increased risk of serious infections. We present a case of a pediatric patient receiving concurrent infliximab and methotrexate therapy who presented with disseminated histoplasmosis.

Case Report: A 12-year-old male with history of ileocolonic Crohn’s disease, stricturing type, initially presented to urgent care with a four-day history of fever, fatigue, and sore throat. He had been on infliximab and low-dose methotrexate for 11 months. Evaluation included negative rapid strep test, negative heterophile antibody, and chest X-ray with possible right upper lobe infiltrate. He had normal blood counts, but mild elevations of inflammatory markers and transaminases. He was sent home with a diagnosis of atypical pneumonia. He continued to be febrile and was admitted to the inpatient service for further work-up. His physical exam was remarkable for right upper quadrant tenderness and hepatomegaly. Labs showed significant bandemia of with atypical lymphocytosis and persistently elevated transaminases. An abdominal X-ray was unremarkable, and abdominal ultrasound showed hepatomegaly. Repeat chest X-ray demonstrated right perihilar lymphadenopathy. Follow-up CT chest, abdomen and pelvis revealed diffuse bilateral ground glass and nodular opacities, several bilateral hilar, mediastinal, mesenteric, and retroperitoneal lymphadenopathy. Infectious work-up was initially negative, but urine histoplasma antigen sent on admission was positive. Liver biopsy demonstrated non-caseating granulomatous hepatitis with fungal yeast forms consistent with histoplasma. Bone marrow biopsy was similarly positive for yeast forms. Infliximab and methotrexate, which had been discontinued on admission, were not restarted and he was placed on maintenance enteral therapy. He was started on liposomal amphotericin B and transitioned to itraconazole one week later. He experienced a transient increase in his creatinine while on amphotericin B. With this treatment, his fevers subsided and transaminases began to improve within the first 3-5 days. After a decrease by 50% of his urine histoplasma antigen and with recurrence of his Crohn’s disease, he was restarted on infliximab, as monotherapy. His transaminases began to increase shortly before his first infliximab infusion, but corrected with a switch to fluconazole. He has been on infliximab for 5 months without recurrence of histoplasmosis and his Crohn’s disease is in clinical remission.

Conclusion: Use of infliximab has been shown to increase risk of opportunistic infections, especially fungal and viral infections. The diagnosis of acute histoplasmosis can be made with urine antigen but requires a high index of suspicion in endemic regions. There is little data available to determine when and how to restart anti-TNF therapy.

 

198  CROHN'S DISEASE FOUND INCIDENTALLY ON POSITRON EMISSION TOMOGRAPHY/COMPUTED TOMOGRAPHY (PET/CT) SCAN IN A 14-YEAR-OLD GIRL WITH NEWLY-DIAGNOSED AUTOIMMUNE AUTONOMIC GANGLIONOPATHY:  A CASE REPORT

Jordan Whatley1, 2, Annette Vannilam1,2, Nicholas Hountras1,2, Deborah Cloney2,3, Harold Conrad2,3, 1Grand Rapids Medical Education Partners, Grand Rapids, MI, USA, 2Helen DeVos Children’s Hospital; Michigan State University, Grand Rapids, MI, US, 3Spectrum Health / Division of Pediatric Gastroenterology, Grand Rapids, MI, USA

Introduction: Patients who present with extraintestinal manifestations of inflammatory bowel disease (IBD) are often difficult to diagnose, especially since such symptoms often precede gastrointestinal symptoms. Neurologic conditions related to IBD have been found to occur in only 3% of patients. Autoimmune autonomic ganglionopathy (AAG) is characterized by diffuse sympathetic and parasympathetic autonomic failure with gastrointestinal dysmotility, urinary retention, and orthostatic hypotension.

Case Description: A previously healthy 14-year-old girl presented with a five-week history of progressive fatigue and decreased appetite, two-week history of decreased stool output with scant watery non-bloody diarrhea with lower abdominal pain, one-week history of dizziness upon standing and visual disturbance, and a 2-day history of oliguria and unsteady gait. On physical exam, she was found to have orthostatic hypotension, mydriasis, dysarthria, gait ataxia, and a non-tender and non-distended abdomen. An initial abdominal CT scan showed moderate gaseous distension throughout the colon without evidence of obstruction or appreciable inflammation. A brain MRI showed no abnormalities. Extensive infectious, neurologic, and rheumatologic work up was performed. A serum paraneoplastic panel then returned positive for ganglionic acetylcholine receptor antibodies. She was then diagnosed with AAG and was managed with intravenous immunoglobulin (IVIG), plasmapharesis, and pyridostigmine. Given that AAG is considered a paraneoplastic syndrome, she had a screening PET/CT scan for neoplastic evaluation. The PET/CT scan showed circumferential thickening and enhancement of the terminal ileum. An esophagogastroduodenoscopy was without significant findings. A colonoscopy revealed aphthous ulcerations throughout the terminal ileum, ascending colon, and cecum with tissue friability and exudates. Biopsies confirmed the diagnosis of Crohn’s disease. Her initial CT images were again reviewed, and no evidence of inflammation was found.

She was started on intravenous methylprednisolone, which led to significant improvement in her abdominal pain, diarrhea, and appetite. She also had gradual improvement of her orthostatic hypotension, urinary retention, ataxia, and dysarthria. As an outpatient, she had full resolution of her gastrointestinal symptoms and was started on 6-mercaptopurine maintenance therapy. At present, she is doing well with only mild dysmetria and minimal residual gait ataxia.

Discussion: Here we reported a case of Crohn’s disease which was found incidentally in the setting of a fulminant presentation of AAG. While AAG has been reported in patients with other concurrent autoimmune disorders (i.e. myasthenia gravis), AAG occurring in a patient with Crohn’s disease has not yet been reported in the literature. Dysfunction of the cholinergic modulation of proinflammatory cytokines (named the “cholinergic anti-inflammatory pathway”) may have played a role in this disease process.

 

199  ABDOMINAL EPILEPSY MASKED AS AN ORGANIC GASTROINTESTINAL DISEASE

Joy Kimberly Militante, Portia D. Monreal, University of Santo Tomas Hospital, Manil, Manila, Philippines

Abdominal epilepsy is a rare cause of vomiting that is often masked by an organic gastrointestinal disease.(2) We describe the case of a seven-year-old female who presented with recurrent episodes of intense nausea and vomiting for one year.

She was born to a then 31-year-old G2P1 (0101) mother who had UTI at seven weeks AOG and at 30-31 weeks AOG. Both infections were treated with a course of antibiotics with noted resolution. She was delivered preterm at 34-35 weeks AOG via emergency CS due to fetal distress and managed as a case of prematurity with bacterial sepsis of the newborn. The patient was discharged improved after 39 days at the Neonatal ICU. At 9 months old, the patient was noted to be constipated with passage of hard stools every 1 to 2 days associated with straining on defecation. The patient was hospitalized thrice for fecal stasis with vomiting as the initial presentation. Her condition improved after IV fluid hydration and disimpaction. At four years old, she was assessed by a developmental pediatrician to have developmental language disorder and underwent speech and occupational therapy with noted improvement. She is currently a Kinder 2 student at a regular school. She can skip, draw a triangle, tell stories, sings songs from memory, and role play corresponding to age 4-5 years on the Denver Developmental Screening Test.

The vomiting episodes were noted to increase in severity for the past year. They were preceded by a sense of “not being well” followed by vomiting for at least 4x in an hour lasting 3-7 days occurring every 2 to 4 months associated with vague periumbilical pain. There was regular bowel movement occurring every 1 to 2 days with passage of soft stools. On PE, patient was weak and moderately dehydrated. Weight, height and BMI were normal for age. Abdomen was flat with normoactive bowel sounds but dull on the entire left quadrant. Neurologic exam was unremarkable. Patient was referred to a gastroenterologist for further work-up and management. On investigation, scout film of the abdomen showed fecal stasis. Gastrointestinal barium enema showed dolichocolon in the transverse and splenic segments. Esophagogastroduodenoscopy showed esophagitis, hiatal hernia, acute gastric mucosal erosions, chronic atrophic gastritis and duodenitis. IV fluid hydration was done to correct for dehydration and electrolyte derangements. Disimpaction was also done with resolution of mottled radiolucencies representing fecal material on repeat xray. PPI was given with noted resolution of vomiting. Patient was discharged with a 3-month course of Esomeprazole, Domperidone and Lactulose all taken with good compliance. In between vomiting episodes, patient was symptom free with good appetite, good activity, and no vomiting episodes. There was regular bowel movement with no straining on defecation. However, patient was readmitted 3 more times in 2-4 month intervals for intense nausea and vomiting. Abdominal epilepsy was already considered at this point. Neurologic work-up was done on the third admission with a cranial MRI showing a few punctate non-enhancing T2W/T2 flair bright signals at the cortical-subcortical regions in both temporal lobes. EEG was also abnormal with noted high amplitude 3-4 hz, 160-230 uV Delta theta activity post hyperventilation with absent sleep patterns. Condition nonetheless improved with supportive management and patient was discharged with advise to follow-up with a neurologist as outpatient. Twelve days from discharge, there was recurrence of intense nausea and vomiting associated with episodes of staring blankly into space. Patient was re-admitted and Levetiracetam IV was started. Repeat EEG after 2 days of Levetiracetam while patient was at the peak of GI symptoms showed prolonged epileptiform discharges as in simple partial status epilepticus. Valproic acid was added. Vomiting eventually lysed after 4 days of dual anticonvulsant therapy with repeat EEG still showing the persistence of high amplitude rhythmic delta activity on both posterior head regions, more frequent and higher on the right. Patient was discharged with improved condition on the following maintenance anticonvulsants: Valproic acid at 25 mg/kg/day and Levetiracetam at 16 mg/kg/day. The episodic attacks of intense nausea and vomiting has not recurred for the past five months.

Abdominal epilepsy is a syndrome in which gastrointestinal complaints arises from seizure activity. The criteria for its diagnosis include: (1) unexplained paroxysmal gastrointestinal complaints which are rare, repetitive and often self-limiting; (2) symptoms of a central nervous system disturbance; (3) an abnormal EEG with findings specific for a seizure disorder; and (4) improvement with anticonvulsant drugs.(1) This involves a broad spectrum of gastrointestinal and CNS manifestations. The gastrointestinal presentation include all or a combination of recurrent abdominal pain, nausea, vomiting, bloating and diarrhea. On the other hand, the reported CNS manifestations are confusion, headache, fatigue, dizziness and syncope. Our patient presented with intense nausea and vomiting with an aura of fatigue and a sense of “not being well” prior to the vomiting episodes. The paroxysmal gastrointestinal complaints of our patient were self-limiting and resolved with supportive management. However, maximum medical therapy with three months of PPI, Domperidone7 and Lactulose given for the inherent gastrointestinal condition failed to control symptom recurrence. Abdominal migraine may mimic abdominal epilepsy; however this usually presents with a normal EEG and a strong family history of migraine which our patient did not have.(6)

The pathophysiology of abdominal epilepsy is not known. (2) Ictal vomiting is considered to be a rare manifestation of seizure generally arising from the temporaral lobe, although parietal or frontal lobe involvement has also been reported. Shuper and Goldberg-Stern used the Latin term “ictus emetics” as vomiting as the sole manifestation of a seizure” in a case report.(4) In a 2012 study of 150 patients with recurrent abdominal symptoms such as abdominal pain, 35.15% of cases had the epileptic focus in the temporal lobe, 32.45% in the frontotemporal, 2.7% in the frontoparietal, and 29.75% was generalized.(3) Vomiting is severe during the seizure and are often observed in children with an anterior temporal lobe tumor or hippocampal sclerosis.(4) This is consistent with the cranial MRI of our patient which showed a nonspecific lesion on the temporal lobe and a generalized delta rhythmic delta rhythm on EEG.

There are currently no recommendations on the choice of anticonvulsant to be used for abdominal epilepsy. One study used Oxcarbazepine leading to a significant reduction in symptoms of patients with abdominal epilepsy.(3) Another study used phenobarbital, phenytoin, valproic acid and carbamazepine on their patients.(5) Anticonvulsant drugs are recommended for all patients for a maximum of 2 years until their complaints have resolved and EEG has returned to normal.(3) Patients with abdominal epilepsy must be followed up to detect episodes of gastrointestinal complaints and an EEG must be performed routinely. In our case, the symptoms rapidly improved after the initiation of dual anticonvulsants.

 Conclusion: It is recommended that abdominal epilepsy must be considered in patients presenting with recurrent intense nausea and vomiting with or without CNS manifestations.(1) The investigation in these patients must start with an EEG, and although no specific anticonvulsant has been established for its treatment, our patient responded with Levetiracetam and Valproic acid.

References: 1. Dutta SR, Hazarika I, Prasad Chakravarty B. Abdominal epilepsy, an uncommon cause of recurrent abdominal pain: a brief report. Gut.2007; 56(3):439-441. Doi:10.1136/gut.2006.094250; 2. Konca C, Coban M, Ozarslan K, Tekin M, Turgut M. A rare cause of abdominal pain: abdominal epilepsy. The journal of academic emergency medicine. 2015; 14:44-6; 3. Kshirsagar VY, Nagarsenkar S, Ahmed M, Colaco S, Wingkar KC. Abdominal epilepsy in chronic recurrent abdominal pain. J Pediatr Neurosci 2012; 7:163-6, [CrossRef]; 4. Mutsuura H, Fukunaga M, Kanbara K, Yagyu T, Yamamoto K, Kitamura K, Ban I, Nakai Y. Biopsychosocial approaches to a patient with vomiting of 10 years’ duration – a case of temporal lobe epilepsy. BioPsychoSocial Medicine. 2009; 3:2. Doi: 10.1186/1751-0759-3-2; 5. Peppercorn MA, Herzog AG, Dichter MA, Mayman C. Abdominal epilepsy: a cause of abdominal pain in adults. JAMA 1978; 40:2450-1. [CrossRef]; 6. Pushpendra M. Abdominal epilepsy misdiagnosed as peptic ulcer disease. Indian Journal of Pediatrics. 2010; 77:916. Doi-10.1007/s12098-010-0141-y; 7. Thomson M. Esophagitis. In Kleinman R, Sanderson I, Goulet O, Sherman P, Mielli-Vergani G, Shneider B, eds. Walker’s pediatric gastrointestinal disease. 5th ed. Hamilton, Ontario: BC Decker Inc; 2008: 98.

 

200  THREE CHINESE INFANTS WITH NEONATAL ONSET INFLAMMATORY BOWEL DISEASE DUE TO ILTERLEUKIN-10 RECEPTOR MUTATIONS WERE CURED BY REDUCED INTENSITY CONDITIONING UMBILICAL CORD BLOOD TRANSPLANTATION

Kaiyue Peng1, 2, Zhiheng Huang1, 2, Xiaowen Qian2, Junping Lu1,2, Bingbing Wu2,3, Huijun Wang2,3, Ying Wang2,3, Xiaowen Zhai2, Ying Huang2, 1Department of Gastroenterology & Inflammatory Bowel Disease Center, Shanghai, China, 2Children’s Hospital of Fudan University, Shanghai, China, 3Molecular Genetic Diagnosis Center, Shanghai Key Lab Birth Defects, Pediatric Research Institute, Shanghai, China

This study reports compound heterozygous mutations in IL-10RA gene in three Chinese children with very early onset inflammatory bowel disease (VEO-IBD). All of these three Chinese children are Han nationality with full-term female infants from non-consanguineous families.

Patient 1 displayed severe diarrhea at postnatal (P) day 8 and had followed by perianal fistulae at P60. She was diagnosed with neonatal onset inflammatory bowel disease which was confirmed by whole exome sequencing (WES) as carrying compound heterozygous mutations in IL-10RA gene ( c.299T>T/G, p.V100G, c.301C>C/T, p.R101W ) and underwent exploratory laparotomy and formation of a transverse colostomy at 4 months due to the intestinal obstruction and stenosis. The patient's elder sister died had a similar presentation of intractable diarrhea, repeated fever and perianal fistula at five months. Within six months after birth she died. Because of our patient's poor response to thalidomide, allogeneic umbilical cord blood transplantation (UCBT) was performed at six months of age using reduced intensity conditioning (RIC). She came into remission and showed mucosal healing at three months and five months after RIC-UCBT respectively.

Patient 2 presented recurrent diarrhea and fever within the first month of life, and developed rectal-navicula fistula. and was diagnosed with intestinal tuberculosis previously and suspected case of VEO-IBD at 3 months. Severe colitis and perianal fistulae occurred repeatedly although she had anti-mycobacterium tuberculosis therapy for 18 months. She was diagnosed with VEO-IBD at two years and confirmed by WES as carrying compound heterozygous mutations in IL-10RA gene (c.537G>G/A, p.T179T, c.301C>C/T, p.R101W ).

Patient 3 had chronic diarrhea after birth, repeated dermatitis at P20, displayed perianal skin tag and fistulae at four months. Colonoscopy showed multiple ulcerations and cobblestone appearance in the colon, leading to the diagnosis of Crohn's disease at five months. Her elder sister died of  similar manifestations at 10 months of age. WES results showed that the compound heterozygous mutations in IL-10RA gene (c.537G>G/A, p.T179T, c.301C>C/T, p.R101W).

Patient 2 and patient 3 underwent RIC-UCBT separately at 32 months and 17 months of age. Both of them formed stool and came into remission 3 months after RIC-UCBT.  Fecal calprotectin of  Patient 3 was negative after UCBT one month. However,  their failure to thrive was improved greatly. Fecal calprotectin of  Patient 3 was negative after UCBT one month. The recovery condition of colonic mucosa needed more time to follow-up.

We found that 52 IBD cases with genomic defections in IL-10 pathway have been reported by researching Pubmed Database. To our knowledge, 17/52 cases underwent allogeneic hematopoietic stem cell transplantation (HSCT), and 16 out of which/17 cases were bone marrow HSCT and with only one case was umbilical cord blood transplantation. Patient 1 is also the youngest VEO-IBD infant who received RIC-UCBT to our knowledge. We suggest that RIC-UCBT is a potential curative treatment in IL-10 pathway axis deficiency or IBD-like syndromes associated with known monogenic mutations.

 

201  GRANULOMATOUS CHANGES IN UPPER GASTROINTESTINAL TRACT BIOPSIES OF PEDIATRIC ULCERATIVE COLITIS PATIENTS

Karen Queliza, Richard Kellermayer, Deborah Schady, Craig Jensen, Baylor College of Medicine; Texas Children’s Hospital, Houston, TX, USA

Background: Given considerable overlap in symptomatology and histology, differentiating ulcerative colitis (UC) and Crohn disease (CD) can be clinically challenging especially in children. The presence of granulomatous inflammation has traditionally been attributed to CD. However, isolated cases of crypt-associated giant cells and granulomas have been observed in colonic biopsies of patients with UC. This phenomenon has not yet been described in the upper gastrointestinal (GI) tract in association with UC. We present seven cases with clinical course, imaging, and endoscopy supportive of pediatric UC, where granulomatous changes along with giant cells were detected on upper GI histopathology.

Methods: We identified seven pediatric patients with histological presence of upper GI granulomatous lesions, whose inflammatory bowel disease was consistent with UC on the basis of symptoms, physical exam, laboratory findings, imaging and endoscopy. The cases were diagnosed between 2011 and 2015 at Texas Children’s Hospital.

Results: Upon review of the duodenal and/or stomach biopsies obtained, giant cells and/or granulomas in near vicinity of gland destruction were seen. All cases were associated with bloody diarrhea and moderate to severe pancolitis. Small bowel imaging did not reveal involvement in any of the patients. Standard therapies including steroids, mesalamine, 6-mercaptopurine and infliximab were utilized with subsequent clinical improvement in the majority of the cases. Two patients, however, required total colectomy within 2 weeks and 1 month of diagnosis, respectively.

Conclusions: This is the first report on pediatric UC-associated granulomatous inflammation in upper GI tract biopsies. All cases involved moderate to severe pancolitis. We speculate that these lesions may be extra-colonic manifestations of intense UC where the granulomatous inflammation is associated with upper GI cryptolysis. Alternatively, the upper GI granulomatous changes may indicate a unique phenotype of UC in these pediatric patients since extraintestinal giant cell-associated disease, such as giant cell arteritis/myocarditis, has been reported in association with adult UC. These atypical histologic findings expand the diagnostic considerations that have to be incorporated during the differentiation between UC and CD in the pediatric age group.

 


202  ADENOMYOMATOSIS OF THE GALLBLADDER WITH PANCREATICOBILIARY MALJUNCTION IN A CHILD

Keisuke Eda, Yugo Takaki, Tatsuki Mizouchi, Kurume University School of Medicine, Kurume, Japan

Background: Adenomyomatosis of the gallbladder (AMG) is defined as an epithelial proliferation accompanied by hypertrophy of the muscularis of the gall bladder with the characteristic outpouchings into or through the thickened muscular layer that are termed Rokitansky-Aschoff sinuses. AMG is relatively common, with a reported prevalence between 2.8% and 5% in adults, but we know of only four previously reported pediatric cases. Pancreaticobiliary maljunction (PBM), a congenital malformation in which the pancreatic and bile ducts join before entering the duodenal wall, can be divided into two groups: cases with biliary dilatation (“gcongenital biliary dilatation”) and those without biliary dilatation. Once the diagnosis of PBM is established, immediate prophylactic surgery is recommended irrespective of biliary dilatation because biliary cancers are frequent in adults with PBM. To our knowledge, AMG with PBM has been reported previously in adults but not in children. Here, we report a pediatric AMG patient with PBM.

Case presentation: An eight-year-old Japanese girl with recurrent abdominal pain for one year was referred to our hospital. She appeared healthy and showed normal growth and development. Her physical examination was normal except for mild tenderness to palpation in the right hypochondrium. Laboratory values, including complete blood count, C-reactive protein, transaminases, γ-glutamyltransferase, bilirubin, lipase, and lipid profile, were normal. Ultrasonography disclosed thickening of the wall of the gallbladder fundus and no dilatation of the bile duct. Magnetic resonance imaging including magnetic resonance cholangiopancreatography (MRCP) confirmed the ultrasonographic findings and showed multiple heterogenous hyperintense cysts in the gallbladder fundus. While MRCP failed to detect PBM, endoscopic retrograde cholangiopancreatography (ERCP) showed PBM. Diagnosed with AMG accompanied by PBM, the patient underwent total resection of the extrahepatic bile duct and Roux-en-Y hepaticojejunostomy. Histopathology of the gallbladder showed typical AMG findings and malignant neoplasms were ruled out in the gallbladder and extrahepatic bile duct. She had no adverse event after surgery and remained free of abdominal pain at five months after surgery.

Conclusions: To our knowledge, this is the first report of pediatric AMG patient with PBM. Physicians should consider AMG when examining children with recurrent abdominal pain and carry out MRCP and/or ERCP to ensure prompt diagnosis of PBM.

 

203  CHRONIC BRONCHITIS AS AN EXTRAINTESTINAL MANIFESTATION OF CROHN’S DISEASE IN A CHILD, A CASE REPORT

Khaled Bittar1,2, Carlos Sabogal2, Shaista Safder1,2, Reinaldo Figueroa-Colon1,2, Jeffrey Bornstein1,2, 1University of Florida, Orlando, FL, USA, 2Orlando Health, Arnold Palmer Hospital for Children, Orlando, FL, USA

Introduction: Tracheobronchial involvement as an extraintestinal manifestation of inflammatory bowel disease (IBD) is described in adults in the literature. Only few cases with pulmonary involvement are reported in the pediatric IBD population. We report a seven-year-old child who presented with chronic bronchitis after undergoing total colectomy and ileostomy for IBD.

Case: This is a seven-year-old previously healthy Caucasian female who presented at age four years with chronic abdominal pain (AP), diarrhea and hematochezia. Initial course was significant for recurrent clostridium difficile infections (CDI) that were treated. Hematochezia persisted despite repeated treatment of the CDI. Initial endoscopic evaluation was normal. Repeat colonoscopy at age five years revealed active left-sided chronic colitis with no granulomas. Video capsule endoscopy of the small bowel was normal. She did not respond to prednisone, rectal hydrocortisone and oral mesalamine and had severe persistent hematochezia requiring blood transfusions. The symptoms persisted despite infliximab (IFX) therapy. Therefore, she underwent total colectomy with ileostomy formation followed by mucosal proctectomy and mucosal proctectomy, j-pouch ileoanal pull through J-pouch ileoanal pull-through. IFX was discontinued. At six years of age, she developed AP, diarrhea and weight loss. Subsequent endoscopy revealed active chronic inflammation of the ileum consistent with Crohn’s disease (CD).

Four months following her initial surgery, she developed chronic bronchitis with productive cough and wheezing that did not respond to several courses of antibiotics, albuterol and inhaled corticosteroid. Pulmonary function tests were normal. A bronchoscopy with bronchial alveolar lavage (BAL) showed mucopurulent bronchitis. BAL cultures and lipid-laden macrophage were negative. A sweat chloride test was negative. Thoracic high resolution CT showed no bronchiectasis but showed ground-glass opacity consistent with interstitial lung disease. She responded well to the addition of oral Azithromycin for its anti-inflammatory effect and oral prednisone that she required for flaring IBD.

Discussion: Several cases in adults reported highly variable prevalence of IBD-associated lung disease. Data on the prevalence in children is limited. The development and progress of airway disease do not seem to be related to the IBD activity. However, a few reports suggest response to IFX. Coincidence with surgical treatment of bowel disease, like in our case, is reported in adults. These manifestations are seen with both CD and UC and can include chronic bronchitis, bronchiectasis, tracheobronchitis, bronchiolitis, interstitial lung disease, and pleural effusions. Respiratory symptoms may precede symptoms of IBD by years, but often appear in patients with a long history of IBD. Screening for pulmonary involvement in children with IBD may enable early detection and treatment of pulmonary dysfunction.

 

204  EPIPLOIC APPENDAGITIS: A EXTREMELY RARE CAUSE OF PEDIATRIC ABDOMINAL PAIN

Kimberly Trieschmann, Akash Pandey, Stuart Berezin, Lesli LeCompte, Maria Fareri Children’s Hospital at Westchester Medical Center, New York Medical College, Valhalla, NY, USA

Case: The patient is a 12-year-old male who presented to the emergency room with a two day history of abdominal pain and lethargy. Abdominal pain was 9/10 in intensity. The pain was constant and sharp. The pain was initially periumbilical and progressed to the right lower quadrant (RLQ ) one day prior to presentation. Movement aggravated the pain. There was no fever, nausea, vomiting, diarrhea or dysuria. The patient did not appear toxic. Vitals signs were normal. On physical exam abdomen was non-distended with tenderness to palpation in the RLQ. There was no guarding, psoas sign, or obturator sign. The patient had normal WBC, hemoglobin/hematocrit, amylase, lipase, and complete metabolic panel. A MRI without contrast was done which showed a hyper-intense mass with low signal rim with surrounding edema immediately adjacent to the descending colon. Due to his persistent pain and continued RLQ tenderness, a CT scan was done which showed focal lateral wall thickening of the descending colon with adjacent small amount of free fluid with a fatty center extending into the pelvis characteristic of epiploic appendagitis.

Epiploic Appendagitis: Epiploic appendagitis is an ischemic infarction of an epiploic appendage caused by torsion or spontaneous thrombus of the epiploic appendage draining vein. Each appendage encloses small branches of the circular artery and vein that supply the corresponding segment of the colon. Epiploic appendages occur all along the colon but are most abundant and larger in the transverse and sigmoid colon [1]. Epiploic appendigitis is not well studied in the pediatric age-group [2]. In adults, the most common place is in the rectosigmoid (57%) and ileocecum (26%) [1,3]. Due to its location, epiploic appendagitis is commonly mistaken for diverticulitis and appendicitis. Patients usually do not appear toxic and often have normal routine laboratory values [4]. CT is diagnostic for epiploic appendagitis and the classic findings is a 2-3 cm oval shaped, fat density, paracolic mass with thickened peritoneal lining and periappendageal fat stranding [5]. Pain is often relived by non-steroidal anti-inflammatory drugs. Epiploic appendagitis is usually benign and self-limiting. Complete resolution without surgical intervention usually occurs between 3-14 days [3,1]. Surgical management is reserved for patients whose symptoms fail to improve with conservative management. Contrast enhanced CT of the abdomen and pelvis with oral and IV contrast. (D) coronal and (E) Axial. Fat density mass with hyperdense rim, immediately adjacent to the descending colon with surrounding halo of edema (arrow). Contrast enhanced CT of the abdomen and pelvis with oral and IV contrast. (D) coronal and (E) Axial. Fat density mass with hyperdense rim, immediately adjacent to the descending colon with surrounding halo of edema (arrow). Contrast enhanced CT of the abdomen and pelvis with oral and IV contrast. (D) coronal and (E) Axial. Fat density mass with hyperdense rim, immediately adjacent to the descending colon with surrounding halo of edema (arrow).

(1) Gelrud, Andres, MD. Epiploic Appendagitis. Epiploic Appendagitis. 28 Jan. 2015. Web. 11 Apr. 2016; (2) Fraser, Jason D.; Aguayo, Pablo; Leys, Charles M.; St, Shawn D. Infarction on an epiploic appendage in a Pediatric Patient. Journal of Pediatric Surgery. 2009; 44:1659-1661.; (3) Schnedl WJ, Krause R, Tafeit E, et al. Insights into epiploic appendagitis. Nat Rev. Gastroenterol Hepatol 2011; 8:45.1; (4) Pines BR, Beller J. Primary torsion and infarction of the appendices epiploicae. Arch Surg1941; 42:775; (5) Sirvanci, Mustafa; Tekelioglu, Mehmet H.; Druan, Cihan; Yardimci, Hakan; Onat, Levent; Ozer, Kadir. Primary Epiploic Apendagitis CT Manifestations. Journal of Clinical Imaging. 2000; 24:357-361

 

205  NOT JUST AN INFECTED URACHAL CYST? UNUSUAL PRESENTATION OF PEDIATRIC CROHN'S DISEASE

Kirsten Madea, Monica Garin-Laflam, Carilion Clinic, Roanoke, VA, USA

Background: The urachus is a fibrous remnant of the embryonic allantois extending from the dome of the bladder to the umbilicus. Failure to obliterate in utero, results in a patent urachus, an urachal sinus, or urachal cyst. Most urachal anomalies are asymptomatic until they become infected.

Case: We report a nine-year-old male in whom the diagnosis of Crohn’s disease was uncovered during workup of a draining urachal cyst. Symptoms began with umbilical pruritus and slight pain over two weeks. With evaluation, his pediatrician initiated treatment with course of Keflex for possible cellulitis. Shortly thereafter, the umbilicus began to drain. His provider obtained abdominal CT scan to further evaluate the area of drainage, which was notable for possible ileal mucosal thickening. With failure of oral antibiotics, he was admitted for IV Zosyn. It was noted that he had “always been smaller than family and peers” and there was also concern for mild weight loss over the past year. Laboratory studies demonstrated iron deficiency anemia. As part of the evaluation, EGD and colonoscopy with biopsies were performed. Histology confirmed active terminal ileitis consistent with Crohn’s disease. He failed outpatient management as drainage once more worsened. He underwent laparoscopy which confirmed enteric fistula communicating with the patent urachus. This required urachal cyst excision, ileocecectomy with primary anastomosis, and umbilicoplasty. Given need for surgery, appendectomy was also performed. He had an uncomplicated postoperative course.

Conclusion: Urachal involvement in CD is rare with only five cases in the literature documenting spontaneous urachoenteric fistulae in patients with CD. The diagnosis of Crohn’s has been rarely associated with urachal remnants. Acknowledging the anatomy and embryology of urachal cysts and the pathophysiology of fistulizing Crohn’s disease led to a high degree of suspicion. We recommend the consideration of Crohn’s diagnosis when evaluating a urachal anomaly in the pediatric patient as an abnormal presentation of Crohn’s disease.

 

206  BOWEL ASSOCIATED DERMATOSIS-ARTHRITIS SYNDROME IN A PATIENT WITH INTERLEUKIN-10 RECEPTOR DEFICIENCY

Lay Queen Ng1, Benjamin Sahn1, Keren Dallalzadeh1, Nika Finelt2, Chen Sheng2, 1Steven and Alexandra Cohen Children’s Medical Center of New York, New Hyde Park, NY, USA, 2Long Island Jewish Hospital, Northwell Health, New Hyde Park, NY, USA

A five-year-old male with a history of interleukin-10 receptor (IL-10R) deficiency, with associated inflammatory bowel disease (IBD) diagnosed at age three who is medically managed on exclusive total parenteral nutrition and metronidazole without immunosuppressive medication currently awaiting bone marrow transplantation presented acutely with worsening rectal bleeding and diarrhea from baseline. On admission, also noted to have new abdominal pain, arthralgias and rash together with fever, leukocytosis (26,000 /µL; baseline 9000 /µL with bandemia of 8%), and elevated CRP. Blood and stool cultures were negative. At onset, he had an erythematous maculopapular rash on his upper and lower extremities bilaterally, involving the palms and soles. The rash subsequently evolved to vesiculo-pustular lesions that also involved his buttocks and neck. An MRI of the abdomen was also obtained to rule out intra-abdominal infection and demonstrated dilated loops of small bowel with wall thickening, hyperenhancement, and possible narrowing of a mid-small bowel loop consistent with progressive inflammatory changes from a previous study one year prior. A sigmoidoscopy was negative for cytomegalovirus infection. Leukocytosis and elevated CRP were felt to be secondary to progression of his IBD as reflected on the MRI. A punch skin biopsy was obtained and showed perivascular neutrophils and some scattered eosinophils with nuclear dust and extravasated red blood cells. Direct immunofluorescence showed weak IgA and C3 deposition in superficial dermal vessels. The pathologic findings were consistent with bowel associated dermatosis-arthritis syndrome (BADAS), with Henoch-Schonlein purpura also considered. The metronidazole was discontinued and he was started on intravenous, then oral ciprofloxacin. His arthralgias and rash significantly improved over the initial 3-5 days of this therapy.

BADAS, initially described in patients following jejunoileal bypass for treatment of obesity, has been described in other underlying bowel diseases including IBD. Production of antibodies to luminal antigens from small intestine bacterial overgrowth (SIBO) or dysbiosis is hypothesized to cross react with the skin and joints leading to the characteristic symptoms of a flu-like prodrome with or without fever, arthromyalgias or arthritis and inflammatory skin eruptions (crops of small erythematous macules that progress to form vesiculo-pustular lesions) over a 12-36 hour period. Treatment for BADAS includes antibiotics targeting gut flora or corticosteroids to inhibit the systemic inflammatory response. In the setting of IBD, treating the underlying bowel inflammation is paramount. A waxing and waning clinical course may occur. In our patient at high risk for infection, early response to antibiotics obviated the need for corticosteroids. To our knowledge, this is the first reported case of BADAS in a patient with IL-10R deficiency.

 

207  A TEENAGER PRESENTING WITH SEVERE PERIANAL DISEASE

Leina Alrabadi, Arik Alper, Dinesh Pashankar, Yale University - Pediatric Gastroenterology, New Haven, CT, USA

Introduction: Perianal disease with abscesses and fistula formation is often a manifestation of Crohn’s disease, however, it can also be due to hidradenitis suppurativa. This condition is characterized by recurrent spontaneously draining suppurativa lesions and subcutaneous sinus tracts, cutaneous fistulas and dermal-cutaneous scars. Here, we describe a 17-year-old male diagnosed with severe hidradenitis suppurativa following presentation with multiple perianal abscesses.

Case Report: A 17-year-old autistic male presented with a four-month history of recurrent perianal abscesses. He had failed medical therapy and had required incision and drainage of abscesses on two previous occasions. He had a history of chronic constipation and abnormal behavioral stooling patterns. There was no history of abdominal pain, diarrhea or weight loss. Labs showed hemoglobin 12 gm/dL and albumin 3.7, elevated inflammatory markers with CRP 19.8 mg/L and sedimentation rate 45mm/hr, negative testing for hepatitis A, B, C and HIV. He also had a negative quantiferon-gold and nitroblue tetrazolium test. Diagnostic evaluation on MRE revealed inter-sphincteric perianal fistula with multiple skin defects extending into extensive areas of skin thickening and phlegmonous changes including the perianal region, the perineum, the buttocks bilaterally, both sides of the scrotum and into the right posterior medial thigh. Normal stomach, small and large intestine on MRE. Crohn’s disease was suspected, however endoscopy and colonoscopy and histology normal. Skin biopsy showed mixed inflammatory infiltrate composed of lymphocytes, plasma cells, histiocytes, neutrophils and eosinophils consistent with hidradenitis suppurativa and not cutaneous Crohn’s. He was started on topical clindamycin, topical benzyl peroxide and topical chlorhexidine. Subsequently started on anti-TNF therapy with Adalimumab, which led to improvement of lesions.

Discussion: Hidradenitis suppurativa (HS) is a chronic relapsing inflammatory condition of the skin occurring in roughly 1% of the population predominantly seen in females with typical commencement in the adolescent population. The clinical presentation of HS may include multiple skin abscess and fistula formation. With primarily perianal disease, differentiating between Crohn’s disease and HS can be a challenge. This case illustrates that hidradenitis suppurativa should be considered in a child with severe perianal disease.

 

208  CEREBRAL SINUS VENOUS THROMBOSIS IN PEDIATRIC INFLAMMATORY BOWEL DISEASE

Desiree Sierra, Jessica Barreto, Mary Lauren Wood, Lina M Felipez, Nicklaus Children's Hospital, Miami, FL, USA

Introduction: Cerebral Sinus Venous Thrombosis (CVST) is an uncommon neurologic disorder in the general population with about three cases per million reported. It occurs more frequently in young patients and women. Risk factors associated to CVST include inherited or acquired prothrombotic states, pregnancy or postpartum state, hormonal contraceptive use, trauma, infection or inflammatory diseases. Headache is a common presenting complaint, but other clinical signs include focal neurologic deficits, seizures and encephalopathy. CT or MR venography aid in diagnosis; treatment consists of anticoagulation, with fibrinolysis and surgical management reserved for more severe cases.

In pediatric Inflammatory Bowel Diseases (IBD), an incidence of 3.3% has been reported. In this series, we discuss the cases of two adolescent females with IBD presenting with headache. Both were found to have significant CSVT. Though the outcomes for our two patients were vastly different, there were similarities between both patients that left them at increased risk for this severe neurological consequence.

Case 1: 16-year-old Israeli female with poorly controlled ulcerative pancolitis presented with two weeks of worsening headache. She had previously been treated with infliximab but developed antibodies with persistent GI symptoms, received first induction dose of adalimumab. She developed altered mental status, unresponsive pupils and required intubation. MRI showed extensive cerebral sinus venous thrombosis of the transverse and straight sinuses as well as the vein of Galen and bilateral veins of Rosenthal. Hematologic workup revealed patient was homozygous for prothrombin gene mutation. She was started on enoxaparin but persisted in minimally responsive state.

Case 2: 14-year-old Cuban-American female with Crohn’s disease affecting colon and terminal ileum who presented with episodes of bloody diarrhea and PCDAI of 50. Previously patient treated with 6MP monotherapy. While admitted, patient developed severe headache, numbness and paresthesias. MRI showed superior sagittal sinus thrombosis. Patient was started on adalimumab and enoxaparin. Neurological symptoms resolved after therapeutic lumbar puncture. Hematologic workup revealed no abnormalities.

Discussion: Hypercoagulability is a well-known complication of IBD, but clinical suspicion for cerebral venous thrombosis is low given that only about 3.3 % of pediatric patients with IBD have been reported to develop cerebrovascular complications. As no laboratory test has been proven to have enough predictive value in this setting, we highlight the importance of clinical presentation in suspecting CSVT. Factors including gender, disease state, type of disease, and comorbidities (such as prothrombotic states) have been reported to contribute to patient risk and outcome, but clinician suspicion and time to treatment may play an even bigger role in overall outcome.

 

209  GUIDELINES FOR INITIATING ENTERAL NUTRITION THERAPY IN CHILDREN AND ADOLESCENTS WITH INFLAMMATORY BOWEL DISEASE

Lindy Lemieux, Ed Hoffenberg, Sara Fidanza, Children's Hospital Colorado, Aurora, CO, USA

Enteral nutrition therapy (ENT) has the ability to induce or maintain remission of undifferentiated Inflammatory Bowel Disease (IBD) and Crohn's Disease (CD). ENT provided at 80-90% of daily caloric needs has efficacy equivalent to steroids in inducing remission of IBD and CD, while promoting improved/normal growth and development in this population. ENT is safer than immune suppression, prevents/treats malnutrition simultaneously, can be used as a long-term therapy, is highly acceptable to families, and enhances quality of life for IBD and CD patients. ENT can be provided in a combination of oral and/or enteral routes, with similar outcomes whether free amino acid, peptide-based, or whole protein formulas are used. The IBD Team at Children's Hospital Colorado wanted to develop a multi-disciplinary protocol for efficiently/effectively providing ENT to IBD and CD patients on either an inpatient or outpatient basis. The protocol includes a nutritional assessment, development of a comprehensive nutrition plan and individualized feeding schedule, pre-authorization by insurance company of a) the homecare company, b) the durable medical equipment (DME), c) the formula prescription, and d) hospital admission for nasogastric (NG) tube placement, teaching of family/patient, and initiation/advancement of the ENT. The family teaching process includes involvement by the GI fellow, child life experts, education by nurse on NG placement technique, family education by the dietitian on the nutrition plan. Follow-up occurs every six weeks with the multi-disciplinary team. Three case studies illustrate the successes that have been achieved in IBD patients using this multi-disciplinary protocol.

 

210  ORAL VANCOMYCIN IS EFFICACIOUS FOR THE COLITIS OF PRIMARY SCLEROSING CHOLANGITIS - ULCERATIVE COLITIS

Li-Zsa Tan, Pete Lewindon, Claire Reilly, Fariha Balouch, Richard Muir, Lady Cilento Children's Hospital, South Brisbane, QLD, Australia

Background: Unconventional interventions must be considered when children with Ulcerative Colitis (UC) fail conventional medical therapy (CMT) or when long-term immunosuppression must be delayed to permit vaccination. In children with Primary Sclerosing Cholangitis - Ulcerative Colitis, liver inflammation has been successfully treated with oral vancomycin (OV), and in these children, the colitis also improved. There is limited data on the role of OV for the primary treatment of colitis in children with PSC-UC.

We report our experience with 9 children treated with oral vancomycin for UC, of which all but one had confirmed PSC-UC.

Methods: Retrospective chart review of 9 children who received OV 50mg/kg/day in three divided doses for a minimum of three months for the treatment of colitis. All had colonoscopic confirmation of medically resistant UC. PSC was confirmed with MRCP and/or liver biopsies in 8 children, and suspected in one who had predominantly right sided colitis and normal MRCP. Follow-up was with clinical evaluation, liver biochemistry, colonoscopy and serial stool for VRE and faecal calprotectin.

Results: Mean age 12.1 years, Median 13.6; Mean duration of treatment 9.8 months, median 6 months. All 8 patients with abnormal LFTs showed significant improvement in ALT and GGT, and normalising in 7 of 8 children, although 1 child experienced rebound transaminitis while on treatment. 8 of 9 patients had paired colonoscopies pre and during OV treatment; all 8 showed macroscopic normalisation to Mayo score 0, there was also histological improvement with clearance of inflammatory infiltrate in most biopsies and but with persisting architectural changes in some. All patients reported improvement in PUCAI scoring, Fecal calprotectin (FC) normalized in all 6 children who had paired FC performed. No patient developed Vancomycin Resistent Enterococcus.

Conclusion: OV has proven benefits in not only improving hepatic transaminitis but gut histology as well. Further research is indicated to delineate long-term benefits.

Table 1: Colonoscopic and histological comparison of colonic biopsies, PUCAI scoring and fecal calprotectin (FC) pre and during OV treatment.

Patient

Colonoscopy - Baseline

Colonoscopy – on OV

PUCAI - Baseline

PUCAI- on OV

FC - Baseline

FC- on OV

1

Mayo 1 – Mild to moderate chronic active colitis and mild architectural distortion in caecum, ascending, transverse, descending and sigmoid. Worse on right side with relative rectal sparing.

Mayo 0 – Mild inflammatory changes throughout. Mild crypt architectural distortion only.

20

0

260

82

2

Mayo 3 – Severe diffuse active chronic colitis. Worse on right side with focal cryptitis, crypts abscess and distortion in ascending and transverse colon. Rectal sparing.

Mayo 0 – Chronic colitis with mild inflammatory changes only on biopsy. No active inflammation.

20

0

-

51

3

Mayo 3 – Pancolitis, worse on right side. Florid viliform appearance in caecum, ascending and proximal transverse colon. Patchy, swollen irregular changes in descending and sigmoid colon. Rectal sparing. Chronic active inflammation on biopsies.

Mayo 0, - Scattered patches of granularity only. Moderate chronic architectural distortion but only minimal active inflammation on biopsies.

40

0

850

-

4

Mayo 2 – Mild to moderate chronic active pancolitis

Mayo 0, 14/01/15 - Resolving chronic colitis, architectural distortion with minimal active inflammation seen in the TI and caecum only.

10

0

100

7

5

Mayo 0 – Right sided microscopic colitis only.

Pending.

20

0

-

<20

6

Mayo 2 – Moderate chronic active inflammation with crypt abscess, moderate architectural distortion in all colonic biopsies. Relative rectal sparing.

Mayo 0 - Quiescent colitis only.

30

5

1600

<20

7

Mayo 2 - Diffuse pancolitis. Mild to moderate active chronic inflammation with no focal cryptitis or crypt abscess.

Mayo 0 – Quiescent colitis only.

60

0

3800

39

8

Mayo 3 – Marked crypt architectural abnormalities and focal cryptitis and focal cryptitis, moderate – severe inflammation with cryptitis, crypt abscess, and crypt loss in ascending, transverse and descending colon. Relative rectal sparing.

Mayo 0 – Mild non diagnostic changes only. No active inflammation and only mildly mildly crypt architecture throughout.

40

0

960

26

9

Mayo 3 – Right sided chronic active colitis

Mayo 0 – Quiescent right sided colitis only on biopsies.

>30

0

>500

150

 

211  SPONTANEOUS BILE DUCT PERFORATION, UNDERLYING CHOLEDOCHAL CYST AND SHIGELLA DYSENTERIAE: RANDOM ASSOCIATION OR TRIGGERING FACTOR?

Marwa Abu El Haija, Dina Al Zubeidi, Eyad Hanna, University of Iowa Hospitals and Clinics, Iowa City, IO, USA

Spontaneous bile duct perforation (SBDP) has been described rarely in pediatric population. Proposed underlying causations are congenital weakness of the common bile duct, ischemia, distal biliary obstruction and pancreatico-biliary malunion. We present a 15-month-old with SBDP presented as abdominal distention preceded by vomiting and diarrhea for one day 10 days prior to admission. Ultrasound (US) and Computed Tomography (CT) scans positive for ascites and paracentesis showed biliary peritoneal fluid. HIDA scan done and confirmed biliary tree leak. Percutaneous drain was placed with minimal change in symptoms so ERCP was performed four days later with nasobiliary tube placement and was consistent for choledochal cyst (CDC) type I and gallbladder perforation. Patient’s stool was positive for Shigella Dysenteriae. Surgery proceeded with cholecystectomy during first admission and patient underwent excision of CDC and hepaticojejunostomy a month and a half later. On follow-up patient sustained normal biliary drainage and no recurrence of her abdominal distention.

 

212  CORRELATION OF MEAN PLATELET VOLUME WITH OTHER INFLAMMATORY MARKERS IN CHILDREN WITH ACUTE FLARE UP OF INFLAMMATORY BOWEL DISEASE

Amrita Kahlon, Lewis Krata, Muhammad Rehan Khan, Ahsan Akhtar, Abraham Jelin, Kenneth Bromberg, The Brooklyn Hospital Center, Brooklyn, NY, USA

Introduction: Early detection of inflammatory bowel disease (IBD) exacerbation is crucial in decreasing the mortality and morbidity associated with this chronic disease. Well known inflammatory markers such as CRP, ESR and fecal calprotectin have been traditionally used as non-invasive tests to support the diagnosis of a flare up. Previous studies have shown a relationship between mean platelet volume (MPV) and inflammation. There is emerging evidence that MPV may be a useful biomarker of disease activity in IBD. Since MPV is generally a measure reported in a standard CBC, and it adds no additional cost to testing, we carried out this study to determine if there is a correlation of MPV with the other markers of inflammation.

Material & Methods: A retrospective chart review was carried out at The Brooklyn Hospital Center. Patients with both Crohn's disease and ulcerative colitis were included in the study. Patients who didn't have the relevant labs during both remission and flare up were excluded from analysis. Fourteen patients were included in the final analysis. Demographic data and labs parameters including CBC, ESR, CRP and fecal calprotectin level were recorded for each patient during acute flare and remission. SAT version 9.4 was used for data analysis. Spearman’s rank correlation coefficient and chi square test were used to assess statistical significance.

Results: Out of the 14 patients, five had ulcerative colitis and nine had Crohn's disease. There were five males. The mean age at diagnosis was 11 years old with range of 9 to 21 years of age. The correlation coefficient analysis showed a statistically significant relationship between MPV and CRP during flare ups (p 0.036), however, it failed to show any statistically significant correlation with ESR (p 0.38). Mean MPV during flares was 8.06 as compared 8.40 during remission. Chi square test showed no statistically significant difference between MPV of 2 groups (p 0.63). Mean CRP during flare up was 55 as compared to 0.8 during remission (p 0.04). Mean ESR was 56 during flares while 12 during remission (p 0.01). Fecal calprotectin was done only in three patients and thus not used for analysis.

 Conclusion: Our study showed a significant positive correlation between MPV and CRP during the course of IBD. This did not prove so for ESR, possibly due to the small number of patients we had in this study. We likewise did not show a statistically significant difference between average MPV during flare and remission, although it was noted in CRP and ESR. This again may be due to our small sample size. MPV still may prove to be a valuable tool in monitoring disease activity in IBD given that it is usually included in a routine CBC and adds no additional cost to patient care. A prospective study with a larger cohort of patients is likely needed to establish a correlation of MPV in addition to CRP, ESR and calprotectin in detecting exacerbations and disease improvement in IBD.

 

213  THE EYES HAVE IT: CHOLESTASIS IN INFANTS WITH SEPTO-OPTIC DYSPLASIA

Senthilkumar Sankararaman, Thomas Sferra, Shahrazad Saab, Jonathan Moses, UH Rainbow Babies & Children’s Hospital and Case Western Reserve University School of Medicine, Cleveland, OH, USA

Background: Diagnostic evaluation for cholestasis in infancy can be both time-consuming and costly. Early recognition of cholestasis and a timely, accurate diagnosis of the underlying condition is imperative for successful management and a favorable prognosis. We herein report two infants with neonatal cholestasis in whom early ophthalmological examination helped lead to the diagnosis.

Presentation: Case 1: A two-month-old female presented with an acute life-threatening episode. She had no significant past medical history. She was born at term and her newborn screen was normal. Her weight gain was suboptimal for a month prior to presentation. On examination, she was icteric with a direct bilirubin of 4 mg/dL and blood glucose of 57 mg/dL. A random serum cortisol was low. The patient continued to have low blood glucose concentrations despite continuous intravenous dextrose administration.

Case 2: A two-month-old female presented to the primary care pediatrician and found to have poor weight gain and icterus. Her direct bilirubin was 7.7 mg/dL. She was born at term and newborn screen was normal. Her blood glucose was normal. A random serum cortisol was low. For both patients, the ultrasound of liver and HIDA scan were normal and liver biopsies demonstrated giant cell hepatitis. The hypoglycemia and low serum cortisol prompted further evaluations. Ophthalmological examination revealed optic nerve hypoplasia and brain imaging showed absence of septum pellucidum, optic nerve hypoplasia and ectopic posterior pituitary for both patients. Both infants were found to have panhypopituitarism, leading to the diagnosis of septo-optic dysplasia (SOD). Initiation of hormone replacement therapy led to resolution of cholestasis for both infants. Both patients currently are cared for by a multidisciplinary team and are manifesting normal growth.

Conclusion: SOD is a clinically heterogeneous group of disorders characterized by the triad of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis of this rare congenital anomaly is made when two or more features of the classic triad are present. The annual incidence is about 1:10,000 live births. SOD is an uncommon cause of cholestasis in infancy. However, one third of infants with SOD will have cholestasis and evidence of liver dysfunction. Important clinical clues (hypoglycemia and any evidence of hypopituitarism) along with a high index of suspicion may help to direct the evaluation and early diagnosis.

 

214  COMPREHENSIVE SCREENING FOR 10 CANDIDATE-GENES IN CHINESE PAEDIATRIC PATIENTS SUFFERED VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE: A COHORT STUDY

Yuan Xiao1,2, Chundi Xu1,2, Xinqiong Wang1, Yi Yu1, Yan Guo1, Xu Xu1, Ling Gong1, 1Ruijin Hospital, Shanghai, China, 2Shanghai Jiaotong University School of Medicine, Shanghai, Shanghai, China

Background: This study performed sequencing analyses on 10 candidate genes in 13 Han Chinese pediatric patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD and the frequency of mutations in relevant genes in Han Chinese patients.

Methods: The relevant clinical characteristics of 13 Han Chinese children with VEO-IBD were analyzed. An Illumina-Miseq platform and the Sanger sequencing were used to analyze of the exons in the coding regions of 10 candidate genes.

Results: Out of the 13 pediatric patients, 10 were diagnosed with Crohn's disease, and three were ulcerative colitis. Mutations in IL-10RA and IL-10RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10RA and FUT2 polymorphisms, and two other patients had IL-10RB and FUT2 polymorphisms. Gene variations were not found in the rest of the four patients. Children with mutations had a lower percentile body weight (1.0% vs 27.5%, p 0.002) and lower hemoglobin (87.4 g/L vs 108.5 g/L, p 0.040) when compared with children without mutations. Although the age of onset was earlier, height was shorter, and the response to treatment was poorer in mutation group, there was no significant difference in these factors between groups.

Conclusions: In this small-sample size study, we found that IL-10RA and IL-10RB mutations were common in Chinese pediatric patients with VEO-IBD and accounted for 38.5% of all samples. Pediatric patients with mutations had an earlier disease onset, lighter body weight, markedly lower hemoglobin, and poorer prognosis.

 

215  A RARE CASE: ULCERATIVE COLITIS PRESENTED WITH TAKAYASU ARTERITIS

Yuhua Zheng, Children's Hospital Los Angeles, Los Angeles, CA, USA

Takayasu arteritis (TA) is a rare, systemic, inflammatory large-vessel vasculitis of unknown etiology that affects the aortic arch and its primary branches. Ulcerative colitis (UC) is an inflammatory bowel disease of unknown etiology. Patients diagnosed with both TA and UC have rarely been reported. Here we presented a case of a seven-year-old Japanese female who presented with abdominal pain and diarrhea at four years of age. Workups including endoscopy were consistent with ulcerative colitis. The patient was initially managed with Mesalamine with intermittent abdominal pain which were considered as UC flare ups. At six years of age, the patient was noted to have hypertension at a routine well child visit. Her blood pressure was monitored subsequently and noted ranging from 130s - 170s / 100s – 125. She also complained headache and chest pain. A serial image studies were performed including CT angiography, MRI/MRA of the brain, neck, chest and abdomen, cardiac MRI and Echocardiography. These studies demonstrated diffuse large artery involvement with wall thickening and stenotic segments of the subclavian arteries, left cartoid, aorta, coronaries, and bilateral renal arteries, thus the diagnosis of type V Takayasu arteritis was confirmed. The patient had renal artery reimplantation, her hypertension is under well control and she if off all the anti-hypertensive medication. The patient was started on MTX and Remicade infusion at 10mg/kg as well as a steroid taper schedule. Since starting the treatment, the patient no longer complains of abdominal pain. Her stool calprotectin also remains normal. The patient has been doing very well with Remicade infusion at every four weeks interval. The pathogenesis of TA and UC is uncertain, but cell-mediated mechanisms play an important role in both diseases, and a genetic factor is thought to have an effect on the coincidence of these two diseases. NK cell and T lymphocyte infiltration is found in the aortic tissue of patients with TA, and levels of various cytokines, such as tumor necrosis factor (TNF)-α, interleukin (IL)-6, and IL-18, are significantly higher in patients with TA than in healthy controls. The production of proinflammatory cytokines, such as IL-1, IL-6, and TNF-α, is increased in patients with UC, indicating that an immune reaction is also associated with the pathogenesis of UC (1).

(1) Sarcoidosis Vasc Diffuse Lung Dis. 2012 Mar;29(1):53-4. Azak A1, Huddam B, Koçak G, Kiliç F, Koçak E, Duranay M.

 

216  THE EFFECT OF FEED THICKENER IN POST FUNDOPLICATION RETCHING SYNDROME

Yunkoo Kang1, Sang Yong Kim2, Hong Koh1, Seung Kim1, 1Yonsei University College of Medicine, SeveranceChildren’s Hospital, Seoul, South Korea, 2The Catholic University of Korea, Incheon St. Hospital, Incheon, South Korea

Introduction: Children with feeding disorders often require Nissen fundoplication and gastrostomy. However, some patients develop gagging and retching after the fundoplication surgery, which can affect both the child and the family's quality of life. In 2011, the feeding team at Cincinnati Children's Hospital Medical Center trialed the use of puréed or “blenderized” feeds to relieve gagging and retching after the fundoplication surgery. They turned out to be effective in reducing the symptoms, but preparation of the food was quite cumbersome for the parents.

Case description: Case 1 - A three-year-old boy, diagnosed with hypoxic ischemic encephalopathy, started retching one month after the Nissen fundoplication.Case 2 - A six-year-old girl, diagnosed with hypoxic ischemic encephalopathy, started vomiting one year after the Nissen fundoplication.Case 3 - A five-year-old girl, diagnosed with mitochondrial cytopathy, started retching immediately after the Nissen fundoplication.

No abnormalities at physical examination, and laboratory test was seen except for the Case 2 patient who had pancreatitis and cured after treatment. Their symptoms persisted even after we tried many motility regulator drugs such as metoclopramide, iberogast and ondansetron. But gagging and retching symptoms improved once we added feed thickener to the formula. The symptoms completely disappeared for the Case 1 and Case 3 patients and 80% for the Case 2 patient as we gradually increased the amount of the feed thickener mixed into the formula. No retching and gagging symptom was seen on follow-up even without medications used to control post fundoplication retching syndrome.

Conclusions: In one study, it was shown that “puréed by gastrostomy tube diet’ is an effective way to decrease gagging and retching after the post-fundoplication retching syndrome. However, we have confronted some problems in accomplishing this method. First of all, preparation of the food was burdensome to most of the parents or caregivers who already spend much time in taking care of the neurologically impaired children, e.g., frequent suction or position change. In addition to that, it was not only hard to develop individualized diet regimen for all the patients with post-fundoplication retching syndrome, but the regimen should also be changed as the child grows and gains weight. Since one potential mechanism of puréed diet was that higher viscosity diet is to do with slow gastric emptying time, we have added feed thickener to increase the viscosity of the formula. Feed thickener is widely used already for swallowing rehabilitation therapy, and we can also use starch or rice powder as an alternative. In our study, we could find out that higher viscosity diet using feed thickener could be another option for the puréed diet, and it also showed great improvement in post-fundoplication retching syndrome.

 

NEUROGASTROENTEROLOGY AND MOTILITY

 

274  ACUPUNCTURE TREATMENT FOR FUNCTIONAL GASTROINTESTINAL DISORDERS IN CHILDREN

Arthur de Lorimier, Sunpreet Kaur, Daphne Say, David Kawatu, University of California at Davis, Sacramento, CA, USA

Introduction: Functional gastrointestinal disorders (FGIDs) are the most common reason for referral to pediatric gastroenterologists. Behavioral medicine and drug therapy are among the most commonly used options to manage these children. Acupuncture has not been extensively described in the management of FGIDs in children. Since the Fall 2015 a pediatric gastroenterologist trained in medical acupuncture has treated patients for a variety of FGIDs at our academic center. We present three randomly-chosen cases to illustrate our experience. All had a negative evaluation for organic disease.

Case 1: A 16-year-old female athlete presented for one year of daily nausea exacerbated by vigorous physical activity leading to multiple missed soccer practices and games. Multiple medication trials (proton pump inhibitors [PPI] and metoclopramide) were unhelpful. Acupuncture was initiated over several weeks for 9 treatments. After the third session she had no nausea and has remained symptom-free, participating in all sports events, over 8 weeks post-treatment.

Case 2: A 15-year-old female athlete presented for six months of daily periumbilical, non-radiating abdominal pain associated with constant mild nausea interspersed with severe episodic nausea and vomiting about 4-5 times a week. She had missed multiple days of school and sports activities because of these symptoms. Multiple medication trials (PPIs and ondansetron) were unhelpful. Acupuncture was initiated over several weeks for six treatments. After the second session she had no nausea nor pain and has remained symptom free, participating in all school and sports events, over three weeks post treatment.

Case 3: A 17-year-old male high school honors student presented with an established diagnosis of Postural Orthostatic Tachycardia Syndrome (POTS) and chronic nausea for three prior years and was in danger of not graduating due to multiple school absence. Various medication trials (erythromycin, nortryptyline, midodrine, and fludricortisone) produced minimal benefit. Acupuncture was initiated over several weeks for six sessions. After the second session he had no nausea. By the fifth session he had caught up with his school work, continues nausea free two weeks post treatment and anticipates college in the Fall.

Comment: As with these representative cases, nausea was the most common chief complaint among the patients treated. All patients had resolution of nausea and improvement in school attendance by the third treatment.

Conclusion: Our experience suggests that acupuncture could be an important therapeutic tool in the management of FGIDs in children. Further study is needed to confirm this and identify which children are likely to benefit from it.

 

275  COTTON BEZOAR AS A LEAD POINT TO INTUSSUSCEPTION; A CASE REPORT IN THE CHILDREN’S HOSPITAL OF NEW JERSEY.

Chinenye Rebecca Dike, Mimi N Ton, Tej Phatak, Francis Sunaryo, Children’s Hospital of NewJersey at Newark Beth Israel Medical Center, Newark, NJ, USA

Identifiable lead points, such as lymphoid hyperplasia and Henoch-Schonlein purpura, are rarely the cause of intussusception and intestinal obstruction in infants and young children. Intussusception is often idiopathic in children. Several lead points such as Meckel’s diverticulum, lipomas, lymphomas, inflammatory bowel disease and various bezoars have been reported as causes of intussusception in adults. Most commonly reported bezoars include trichobezoars, lactobezoars and phytobezoars. Bezoars are often reported in neurologically impaired children. The most commonly reported bezoars in children is trichobezoars. We report a rare case of cotton fiber bezoars causing recurrent multifocal intussusception in a developmentally appropriate 11-year-old female. Our case is an 11-year-old female with history of sickle cell trait who was admitted with a three-day history of right-sided abdominal pain, bilious emesis and fever. A CT scan done at the referring facility revealed a thickened bowel, multifocal intussusception with no evidence of small bowel obstruction. On presentation, examination revealed an obese female with significant tenderness in the left lower quadrant and abdominal distension. Significant lab findings include a microcytic anemia, thrombocytopenia, elevated erythrocyte sedimentation rate and negative IBD serology and celiac panel and normal coagulation panel. She was initially managed conservatively with improvement in symptoms. However, with advancement in her diet, she clinically worsened. She subsequently underwent an exploratory laparotomy which revealed multiple cotton fibers that were removed from her small bowel. These fibers were determined to be lead points to her multifocal intussusception. Her symptoms improved significantly after surgery. She was discharged home with an outpatient psychiatry follow-up for pica. She returned two months later with a one-day history of abdominal pain and non-bloody, non-bilious emesis. At presentation, she admitted to continued wash cloth pica. Initial work up revealed only microcytic anemia. She was conservatively managed. Her symptoms improved after she passed large amounts of cotton fibers in her stools. She did not require endoscopy or surgery during the second hospitalization. Inpatient psychiatry evaluation revealed that she became depressed about six months prior to initial presentation and was taking solace in sucking and chewing wash cloths. Onset of her pica coincided with the divorce of her mother and step-father. Family history was also significant for wash cloth pica in the mother. This case report identifies cotton fibers as a rare cause of intussusception in children. A review of the literature illustrates that foreign body (FB) ingestions are more common in neurologically impaired children and those with mental illness. These foreign body ingestions often lead to impactions or obstructions and not intussusceptions as in our case.

 

276  DIARRHEA AND WEIGHT LOSS AS A PRESENTING MANIFESTATION OF MEDULLARY THYROID CARCINOMA IN A PATIENT WITH HIRSCHSPRUNG'S DISEASE

Christine Pasquarella, Kadakkal Radhakrishnan, Peter Anderson, Cleveland Clinic Children's, Cleveland, OH, USA

Hirschsprung’s disease (HD), the congenital absence of ganglion cells in the myenteric plexus affecting distal intestinal motility, has an incidence of about 1 in 5000 live births. Most cases of HD are sporadic, however 20% are familial and 30% have genetic defects that make up a clinical syndrome. Mutations in multiple genes, most notably the RET proto-oncogene, are associated with familial forms of HD. RET proto-oncogene mutations have also been implicated in over 90% of families with Multiple Endocrine Neoplasia type 2 (MEN-2).Rarely, HD and MEN-2 cosegregate. MEN- 2 is a syndrome consisting of medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia or adenoma. The RET proto-oncogene has 21 exons and encodes a receptor tyrosine kinase that is expressed in derivatives of neural crest cells. The RET mutations in HD are inactive and lead to a loss of function, whereas in MEN-2 the RET mutations are activating thus enhancing the function of encoded proteins. A 15-year-old male with history of short segment HD at three years of age, with surgical correction presented with 8-month history of abdominal pain, significant and frequent diarrhea, unintentional thirty-pound weight loss, and intermittent fever. Previous workup including esophagogastroduodenoscopy and colonoscopy with biopsies, serum thyroid function, gastrin, glucagon, vasoactive intestinal peptide, and 24-hour urine 5-hydroxyindoleacetic acid yielded normal results. Abdominal ultrasound was notable for innumerable, nonspecific, small, echogenic hepatic lesions. Computerized axial tomography of abdomen was remarkable for multiple enhancing hepatic lesions. Evaluation in Hepatology Clinic was significant for palpable anterior cervical lymphadenopathy. Calcitonin 62,241 pg/mL, carcinoembryonic antigen 3446 ng/mL, serum normetanephrines 102 pg/mL(reference range 22-83). Subsequent CT and MRI scans notable for bilateral thyroid and cervical neck masses and metastases in liver and vertebral bones. Ultrasound guided fine needle aspiration of cervical neck mass diagnosed medullary thyroid carcinoma. He started vandetenib and had total thyroidectomy. Due to the patient’s history of short segment HD and the association of medullary thyroid carcinoma associated with MEN-2 , RET 10 exon genome sequencing for RET proto-oncogene mutation was obtained and shows a variant with c.1134_1154del (p.Asp378_Gly358delinsGlu) in RET. The presence of an association between HD and MEN-2 should increase awareness of the need for RET gene analysis. In selective situations, this can initiate earlier screening for carcinoma development in these patients at increased risk. The association between RET gene mutations are higher in familial(50%) and long segment(70-80%) HD. Involvement with clinical genetics is essential in patients diagnosed with HD. Now that susceptibility gene testing is available, screening and prophylactic thyroidectomy can be reserved to carriers of a mutation in RET proto-oncogene.

Axial view of abdominal CT scan notable for liver lesions,

with multiple lesions in additional imaging slices.

Coronal view of CT neck significant for thyroid and

cervical neck masses.

 

277  HENOCH-SCHONLEIN PURPURA WITHOUT TYPICAL LESIONS, PRESENTING WITH GASTROINTESTINAL MANIFESTATIONS AND KIDNEY INVOLVEMENT FOLLOWING INFLUENZA

Jeong Min Lee, In Seok Lim, Dae Yong Yi, Chung-Ang University Hospital, Seoul, Dongjak-GU, South Korea

We report a case of Henoch-Schönlein purpura (HSP) presenting without typical skin lesion; atypical symptoms initially appeared following influenza infection. A four-year-old girl with influenza presented with epigastric pain and vomiting. On physical examination, there was epigastric tenderness, but no other signs, such as skin rash. On the second day, she vomited blood 10 times. Ultrasonography indicated focal bowel wall thickening in the right upper quadrant. Esophagogastroduodenoscopy showed edematous and purpuric mucosa in the gastric pylorus and duodenum. Steroid therapy was initiated, and symptoms improved, but microscopic hematuria persisted. Even in the absence of typical purpura, if any gastrointestinal symptoms are observed and HSP is suspected, aggressive diagnostic tools must be considered, including ultrasonography or endoscopy. With only a few reported cases of HSP associated with influenza infection, this is the first reported case with gastrointestinal involvement and renal impairment, but without typical skin lesions.

 

278  TCF4 MUTATION CAUSES NEUROPATHIC DYSFUNCTION OF THE GUT: MANOMETRIC EVIDENCE FROM A PATIENT WITH PITT HOPKINS SYNDROME

Eshan M. Samuel, Ajay Kaul, Khalil El Chammas, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

We report a case of a 9-year-old Arab male with Pitt Hopkins Syndrome, global developmental delay, chronic constipation since infancy, intractable vomiting, abdominal distention and abdominal pain. He was born at term with no major perinatal complications. He had characteristic facial features consistent with Pitt Hopkins Syndrome. MRI showed mildly, foreshortened corpus callosum in anteroposterior dimension. Chromosomal microarray analysis revealed 18q21.2 deletion including part of the TCF4 gene, which is associated with Pitt Hopkins syndrome, as well as loss of 5q23.1 and 10q26.2 copy number variants. Work-up for his gastrointestinal symptoms showed: normal labs (thyroid and celiac disease screening, complete blood count, chemistries, serum amylase and lipase); normal HIDA scan; water-soluble contrast enema remarkable for a slightly dilated recto-sigmoid colon; upper GI contrast study with normal anatomy but diffuse gaseous distension of stomach and small bowel and delay of contrast emptying from the stomach; two unremarkable esophago-gastro-duodenoscopies; and two gastric emptying scans for solids that suggested a delay in gastric emptying both at 2 and 4 hours. He was diagnosed with idiopathic gastroparesis and received endoscopic botulinum toxin injection in the pylorus on three different occasions, with improvement in nausea and vomiting for a few months. Constipation was being treated with stimulant laxatives and the abdominal pain was attributed to visceral hyperalgesia. He presented to our center for a second opinion for persisting gastrointestinal symptoms. Antro-duodenal manometry (pictures) was performed and showed abnormal antral and small bowel motility with disorganized contractions and no migrating motor complexes in the fasting state. There was delayed response to IV erythromycin with increased antral contractions but with postprandial antral hypomotility and frequent rumination (R) waves. IV octreotide induced simultaneous phase 3 migrating motor complex (MMC)-like activity in the small bowel. Manometry was interpreted as a neuropathic pattern of small bowel dysmotility with rumination. Colonic manometry was performed and showed normal increase in motor activity after meal and high amplitude propagated contractions after intracolonic administration of bisacodyl (picture).

Conclusion: We provide the first manometric evidence of neuropathic dysmotility of the small intestine in a patient with documented Pitt Hopkins Syndrome. TCF4 gene is expressed in the glia and neurons of the CNS and has been shown to regulate the differentiation and migration of a subset of neuronal progenitors. It is therefore highly likely that this neuropathic dysfunction is due to an aberrant development of the enteric nervous system as a result of a mutation in the TCF4 gene in Pitt Hopkins Syndrome.

 

279  POLYETHYLENE GLYCOL,SALINE, OR WATER? WHICH DELIVERS A LESS TIME-CONSUMING ANTEGRADE ENEMA FLUSH REGIMEN?

Jennifer Peacock1, Ricardo Medina2, Rina Sanghavi1, 1Children’s Medical Center Dallas, Dallas, TX, USA, 2University of Texas Southwestern Medical Center, Dallas, TX, USA

Introduction: An antegrade continence enema (ACE) is a method of bowel management used to relieve constipation that is unresponsive to oral and rectal bowel medications. The goal of an ACE is to flush stool from the colon once daily to achieve social continence. The ideal daily total length of time for regimen from start of flush to end of stooling (TLOTR) is thought to be within one hour in order to balance bowel regimen with daily life activities. Various solutions for flush regimens exist. We evaluated the three common solutions used for flushing through an ACE- normal saline, water and polyethylene glycol -PEG 3350 ( either as Miralax ® or Golytely®), and sought to ascertain if one type of solution resulted in a shorter TLOTR as compared to others.

Materials and methods: Charts of all patients who use ACE and are followed in the bowel management program at our institution between 2009 to 2016 were retrospectively reviewed. ACE flush regimen, including use of stimulants and TLOTR are documented per protocol by the provider during each clinic visit.

Results: 33 patients use ACE continence regimens in our program. Of these patients, fifteen patients had chronic constipation from poor motility (11-functional constipation, 1-cystic fibrosis with chronic constipation, 2-slow transit constipation, 1-Marfan’s Syndrome), fourteen patients had anorectal malformations (4-cloacal atresia, 4-VACTERL, 5-imperforate anus, 1-Hirschsprung’s Disease), and nine patients had disorders of the spinal cord (6-spina bifida, 1-T9 cord resection, 2-tethered cord). Four of the patients had more than one underlying diagnosis (i.e. tethered cord and imperforate anus or spina bifida and cloacal anomaly) and therefore were placed in more than category. The TLOTR using saline (homemade salt solution or normal saline) ranged from fifteen minutes to two hours. TLOTR using water (distilled, sterile, hot, tap) ranged from five minutes to over one hour. For PEG 3350, TLOTR ranged from five minutes to within one hour. Stimulant use with PEG 3350 did not affect the TLOTR.

Conclusions: Using PEG 3350 as part of an antegrade flush regimen yielded the shortest amount of time spent completing an antegrade enema regimen, which could help increase patient quality of life and hence patient compliance.

Table 1: ACE flush solutions and maximum length of flush regimen time

ACE flush solution

Maximum LOTR ( Length of time for regimen from start of flush to finish stooling)

Saline(home made salt solution or normal solution)

2 hours

Water( distilled, sterile, hot or tap)

> 1 hour

PEG 3350 ( Miralax or Golytely)

< 1 hour

 

280  BOTULINUM IS SAFE FOR TREATMENT OF CRICOPHARYNGEAL ACHALASIA IN PEDIATRIC PATIENTS

Kanika Puri, Marian Pfefferkorn, Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA

Background: Cricopharyngeal achalasia (CPA) is a very rare cause of dysphagia in pediatric population. It results from the failure of the upper esophageal sphincter to relax in response to the pharyngeal phase of swallowing. Patients present with choking, aspiration, and nasopharyngeal regurgitation of formula resulting in poor weight gain. We report two patients with feeding dysfunction subsequently diagnosed with CPA. Case summaries: A newborn presented at two weeks of age with failure to thrive. She was born at term with an uncomplicated prenatal course but had frequent coughing and choking episodes with feeds since birth. There was no reported history of cyanosis or emesis. Video feeding swallow study (VFSS) showed posterior indentation of the upper esophagus at the level of the upper esophageal sphincter, with associated significant aspiration, concerning for congenital CPA. Due to high risk of aspiration, she was switched to nasogastric feedings. She underwent direct laryngoscopy followed by administration of Botox into the upper esophageal sphincter. The esophagoscopy did not reveal any abnormalities. The repeat VFSS following Botox treatment showed resolution of CPA. However, as she continued to have aspiration, a percutaneous endoscopic gastrostomy (PEG) tube was placed. Since placement of the PEG tube, she has continued to do well and her weight for age is currently at 95th percentile.

A two-month-old infant born at 35 weeks of gestational age was referred for failure to thrive. She had episodes of choking and gasping for air while feeding. VFSS was significant for CPA and pooling in the upper esophageal area with poor esophageal clearance, resulting in multiple laryngeal penetrations. She was started on exclusive nasogastric tube feeds. Family initially opted for observation for spontaneous improvement in her symptoms but follow-up VFSS showed non-resolution of CPA. She underwent direct laryngoscopy and esophagoscopy with administration of Botox injection. Gastrostomy tube was placed as well. The most recent VFSS showed only penetration and no evidence of CPA. She is currently receiving all her feeds orally. She is at 50th percentile for weight for her age.

Discussion: CPA is an uncommon phenomenon and there are very few pediatric cases reported to date. The etiology is unknown and is thought to be multifactorial involving central nervous system disorders, neuromuscular disorders, or infections. It is easily diagnosed on routine VFSS for evaluation of dysphagia, with typical findings of dilated pharynx with holdup of the contrast bolus accompanied by visible cricopharyngeal prominence. The endoscopic evaluation may show failure of relaxation of the UES in response to general anesthesia. There are multiple options available for treatment. Historically, surgical transcervical cricopharyngeal myotomy has been the standard of care. Endoscopic cricopharyngeal myotomy holds promise as a minimally invasive therapeutic option. Balloon dilation and use of botulinum toxin injections have been proven to safe and effective. Both our patients demonstrated excellent weight gain with resolution of CPA. Hence, treatment with botulinum injection may be considered a safe and effective first line therapy for CPA.

 

281  LYMPHOCYTIC AUTOIMMUNE ENTERIC LEIOMYOSITIS AS A RARE ACQUIRED CAUSE OF CHRONIC INTESTINAL PSEUDO-OBSTRUCTION.

Kent Rosenwald, Katja Kovacic, Manu Sood, Mariko Suchi, Medical College of Wisconsin, Milwaukee, WI, USA

Background: Most cases of chronic intestinal pseudo-obstruction (CIPO) result from congenital defects of the enteric neuromusculature, presenting soon after birth. Acquired or secondary causes of CIPO diagnosed after infancy are less common but may result from infections, toxins, inflammatory or autoimmune conditions. According to the 2009 International Gastrointestinal Neuromuscular Pathology Guidelines, full thickness biopsies in severe neuromuscular disorders may contribute to accurate diagnosis. However, CIPO is generally diagnosed based on symptoms, imaging and manometry. We present a rare case of lymphocytic autoimmune enteric leiomyositis suspected by antroduodenal manometry and confirmed by full thickness biopsies and successfully managed with immunosuppression therapy.

Case Description: A 10-month-old female presented after an apparent viral gastroenteritis with progressive abdominal distension, bilious emesis and hypoalbuminemia. Imaging showed dilated loops of small and large bowel without identifiable mechanical obstruction. Due to intolerance of enteral feeds, she became TPN dependent. Antroduodenal manometry revealed low-amplitude contractions of stomach and small intestine (5-15mmHg) and absence of migrating motor complex. She underwent exploratory laparotomy (showing a severely dilated small bowel) along with ileostomy, gastrostomy and full thickness biopsies from stomach, jejunum, ileum, and colon. Pathology revealed intact mucosa and submucosa but a dense, lymphocyte-predominant inflammatory infiltrate in the muscularis propria with destruction of myocytes at all biopsy sites. Myenteric ganglia were intact. Immunohistochemistry revealed CD3 positivity in >90% of the infiltrating lymphocytes. These histological features were diagnostic for lymphocytic autoimmune enteric leiomyositis. The patient was started on immunosuppressive therapy with pulse doses IV solumedrol followed by initiation of Sirolimus with improved tolerance to enteral feeds. Subsequently, continued immune suppression with Sirolimus allowed advancement of enteral feeds. She successfully weaned off TPN at 12 months follow-up.

Discussion: The 7 previously described reports of autoimmune enteric leiomyositis share many characteristics with this case. These include childhood onset, viral trigger, and histologic features showing a T-cell predominant infiltrate in the muscularis with myocyte destruction. However, nearly all previous cases had poor outcomes. The natural history and response to immune suppressive therapy in patients with acquired CIPO is unknown. This is the youngest patient described with acquired CIPO responding successfully to early immune suppressive therapy. Full thickness biopsies are not routinely performed in CIPO. However, they should be considered in acquired CIPO cases as they may detect a condition amenable to treatment.

 

282  SIGMOID VOLVULUS : A CASE SERIES

Keshawadhana Balakrishnan, Shilpa Sood, Maria Fareri Children's Hospital, White Plains, NY, USA

Sigmoid volvulus is a rare cause of intestinal obstruction in children. Because of its rarity and ability to spontaneously reduce, the diagnosis of sigmoid volvulus in children often is not considered. It is common in the 4th decade and in males and is rare in children.

Case Report: We describe three cases of sigmoid volvulus, who presented with different clinical severities, all of whom successfully reduced by colonoscopic reduction.

Case 1: 17-year-old girl presented with progressively worsening lower abdominal pain and non-bilious vomiting for a week. She had had no bowel movement for 10 days. On exam her abdomen was slightly distended, diffusely tender, and tympanic to percussion with absent bowel sounds. Labs were within normal limits. CT abdomen was consistent with sigmoid colon volvulus. Under general anesthesia, she underwent flexible sigmoidoscopy, where a capacious sigmoid colon filled with stool was found. Sigmoidoscopic reduction and successful exsufflation was performed. Post procedure X ray showed decreased dilatation of the sigmoid colon. A rectal tube was placed for 24 hours. Post procedure, she was clinically well. Barium enema showed a dilated redundant sigmoid colon. She had a normal anorectal manometry. She has been scheduled for an elective sigmoidectomy.

Patient 2: A 10-year-old girl presented with a four-day history of abdominal pain, distension, and bilious emesis of four days. Emesis initially non bilious became bilious on the day of presentation. She has history of chronic constipation with a normal rectal suction biopsy at 6 years of age. Upon exam she was afebrile with stable vital signs. The physical exam showed diffuse tenderness and high-pitched bowel sounds on abdominal exam. Labs were unremarkable. A plain abdominal radiograph showed a markedly dilated loop of colon. An MRI abdomen showed a sigmoid volvulus, with the transition zone approximately 10-15 cm from the anus. She was taken to the operating room for endoscopic reduction. She underwent successful colonic decompression. Barium enema showed a distended and redundant sigmoid colon. She had a normal anorectal manometry. Her colonic motility showed abnormal motility in the sigmoid colon and is scheduled for an elective sigmoidectomy.

Patient 3: An 11-year-old girl was admitted with a one-week history of lower abdominal pain, nausea, vomiting. Physical exam revealed the patient to be in moderate distress with stable vital signs. The abdomen was noted to be distended and firm, with high pitched bowel sounds. Labs were normal. CT abdomen showed dilated sigmoid colon, consistent with the coffee bean sign, and diagnostic of sigmoid volvulus. The patient underwent a successful sigmoidoscopic reduction. Post-op, the patient was stable, with no complications. The etiology of sigmoid volvulus in children is believed to involve a pathologically long colonic mesentery with a narrow base or lack of fixation of a part of the colon that is normally fixed. Non-operative reduction of sigmoid volvulus by sigmoidoscopy and decompression by a rectal tube should be attempted in cases in which there is no evidence of peritonitis. In the present series, sigmoidoscopic exsufflation and reduction were performed successfully in all three patients.

Conclusion: This report suggests that nonsurgical reduction should be attempted first in uncompromised sigmoid volvulus in children, unless bowel ischemia or perforation develops.

         Table 1: Lab and Radiological Findings from a 10-year-old Male with Kawasaki Disease

Abdominal Ultrasound

Hepatosteatosis, Gall bladder unremarkable. No biliary ductal dilatation.

 

Magnetic resonance cholangiopancreatography (MRCP)

Probable Hepatosteatosis, No biliary ductal dilatation, Abdominal and mesenteric lymphadenopathy

 

 

283  AN UNUSUAL CONGENITAL COLONIC NEUROMUSCULAOPATHY IN AN INFANT WITH TOTAL COLONIC DYSMOTILITY

Khalil El-Chammas, Ajay Kaul, Anita Gupta, Kevin Bove, Belinda Hsi Dickie, Cincinnati Children’s Hospital and Medical Center, Cincinnati, OH, USA

Background: Calretinin (CAin) is being increasingly used as an immunohistochemical marker for the histopathological diagnosis of human intestinal neuropathies.

Case Report: An 8-month-old Arabic girl, born to consanguineous parents, presented with a history of delayed passage of meconium after birth and abdominal distension. Daily rectal irrigations helped decompress her abdomen, but she had no spontaneous bowel movements. Other than mild developmental (gross motor) delay, she had a normal physical examination. Full thickness rectal biopsy was hypoganglionic with reduced Calretinin (CA) + terminal nerves and normal AcEase activity, not suggestive of Hirschsprung disease. Contrast enema at eight months showed a capacious colon with poor spontaneous evacuation. Colonic manometry lacked high amplitude propagated contractions (HAPC), even after bisacodyl stimulation. Antro-duodenal manometry was normal. She did well for eight months after an ileostomy but repeat colonic manometry remained abnormal. After subtotal colectomy with takedown of ileostomy, bowel function is normal. We compared histology and immunohistochemistry of circumferential strips of her resected colon from ascending to sigmoid region to a control colon using antibodies to neuronal elements (calretinin, PGP9.5, GAP43, Glut-1), interstitial cells of Cajal (CD117) and synaptophysin. The mucosa appeared normal throughout. The muscularis propria showed patchy atrophic changes. The submucosal and myenteric plexii in ascending colon showed reduced number of ganglion cells and non-uniform reduction in prevalence of CA+ nerves in the lamina propria that tended to normalize in the distal colon when compared with the control specimen. The ganglion cells were often small, some pyknotic, some displaced, some immature and some apoptotic. There were skip areas in the submucosal and myenteric plexuses where there were no ganglion cells or hypertrophic nerves identified along the entire length of the colon. Quantitative studies are in progress.

Summary: We describe an unusual congenital colonic neuromuscular abnormality in an infant with total colonic dysmotility.

 

NUTRITION AND INTESTINAL REHABILITATION

 

317  GOAT’S MILK: POPULAR, BUT IS IT SAFE?

Ankur Chugh, Ruba Azzam, University of Chicago, Chicago, IL, USA

Introduction: Goat’s milk formulas have been shown in studies to adequately substitute for cow’s milk formulas. However, with goat’s milk gaining popularity in the United States, there are now powdered formulations available at grocery stores, which are not suitable for infants. In addition to lacking folate (which is commonly known), they also lack Vitamins B3, B12, C, E, K, iron, carnitine, copper, manganese, selenium, and zinc. These deficiencies are not as well known, and this report describes the case of an infant with severe malnutrition and multi-organ failure from inappropriate goat’s milk intake.

Case Description: A full term AA male was born via SVD to an 18-year-old G1P1 mother with limited pre-natal care. Birth weight was 2.615kg, there were no complications, and he was discharged on DOL 2 to see his pediatrician in one week. His actual first clinic visit was at ~3 months of age. He was feeding well on Gentlease, 4-5 oz q 4-5 hours, weighed 3.18kg (<0.01%, z-score of -5.4). At ~ 4 months of age, parents had concerns about lack of weight gain, so they added multi-vitamins and switched him to powdered Meyenberg goat’s milk. He fed at an average of 32-40 oz per day. At 5 months of age, he presented to a local Emergency Room for irritability.

In ER, noted to have lethargy and agonal breathing. Vital signs were significant for temp of 85.5o F, P 108, RR 31, BP 85/39, 100% RA, weight 3.5kg (<0.01%, z-score -6.37), with an initial dexi of 12 mg/dL. Patient was given glucose, atropine, bicarb, IVF, was warmed and intubated, and started on broad spectrum antibiotics. Labs significant for Na 112 mg/dL, blood gas of 7.47/26.6/132/19/-4 (post-intubation), and he was given 3% NaCl and transferred to our ICU. Upon arrival, labs showed Hb 7.8 g/dL, pancytopenia, CO2 18 mmol/L, INR 2.8, albumin 2.2 g/dL, pre-albumin 9 mg/dL, AST/ALT 106/50 U/L, and ammonia 95 ug/dL. The patient received blood products and pressors for a BP of 68/31. With the history of goat’s milk intake, known to lack folate and essential nutrients, the patient was started empirically on folate, and numerous vitamin levels were sent. Cultures (blood, urine, CSF) revealed no organism. Course was complicated by hypoglycemia requiring a high GIR and by prolonged DIC. His clinical status gradually stabilized, and he was eventually transitioned to NG/PO feeds, tolerating Neocate 20kcal/oz and eventually Alimentum 27kcal/oz POAL prior to discharge.

Upon detailed review, the parents acknowledged mixing the initial Gentlease formula at 1.5 scoops/8 oz water for palatability. Subsequently, they mixed goat’s milk at 0.5 scoops/8oz water (vs the recommended 2 scoop/8oz water).

The increase in Na, K, Ca, and phosphorus in goat’s milk compared to cow’s milk is well described in the literature. In comparison to infant formula, goat’s milk powder not only has elevated concentrations of these same electrolytes, but also deficiencies in iron and folic acid (unless supplemented), a relative decrease in carbohydrates, and deficiencies in vitamins B3, B12, C, E, K. It is also deficient in carnitine, copper, manganese, selenium, and zinc. Our patient had deficiencies in carnitine, vitamin C and possibly vitamin K. Patient was seen in GI clinic one month after discharge and was thriving, with a weight of 5.92kg (0.16%) with an improvement in Z-score from -6.37 to -2.95.

 

318  SCURVY MIMICKING BONE CANCER IN PEDIATRIC PATIENT WITH AUTISM

Carmine Suppa, Jessica Gross, Michael Pettei, Cohen's Children's Medical Center of New York of Northwell Health, New Hyde Park, NY, USA

Introduction: Scurvy, the first described nutritional deficiency, is a condition resulting from a chronic deficiency of vitamin C. This deficiency affects the development and strength of bone, collagen, connective tissue, and dentin. Scurvy, however, is uncommon in the 21st century as vitamin C is found in a variety of common foods and beverages. Children with developmental delay often have restricted diets that place them at high risk for nutritional deficiencies, including scurvy. Although the symptoms of scurvy are well documented, there is often a delay in diagnosis. This delay is due to a combination of the disease’s rarity and its ability to mimic other diseases.

Case: This patient is a 15-year-old autistic male who presented on admission with worsening left thigh pain and refusal to walk. Initial laboratory values were within normal limits, but MRI of the affected leg was suspicious for bone neoplasia such as Ewing’s or osteosarcoma. An IR guided bone biopsy and bone scan were performed and revealed unspecific findings but no evidence of neoplasia. The patient’s leg pain worsened and he began experiencing progressive gingival bleeding. Further investigation and testing discovered severe vitamin C deficiency.

 Conclusion: This emphasizes the importance of a thorough dietary history and a high index of suspicion for nutritional deficiencies in the developmentally delayed child. Furthermore, understanding how the presentation and imaging associated with scurvy can imitate bone cancer may help these patients avoid invasive procedures.

 

319  INHIBITION OF GROWTH OF CLOSTRIDIUM DIFFICILE AND RESOLUTION OF SYMPTOMS IN INFECTED PEDIATRIC PATIENTS FOLLOWING USE OF A BIOACTIVE POLYPHENOL SUPPLEMENT: RESULTS OF IN VITRO AND IN VIVO STUDIES

Anders K. Dahlstrom1, Thomas Lawson2, Helen Pavis3, Neema Patel4, 1Stanford University, Palo Alto, CA, USA, 2Lawson & Associates, El Cerrito, CA, USA, 3Pediatric Gastroenterology of Monterey, Monterey, CA, USA, 4University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

Background: Use of antibiotics can cause Clostridium difficile-associated diarrhea, which may require repeated doses of additional antimicrobial agents, which can perpetuate the infection cycle. The objectives of this study were to determine (1) whether a bioactive polyphenol supplement inhibits growth of the bacterium in vitro, and (2) its capability to halt diarrhea and eliminate C. difficile toxin from patients’ stool.

Methods: In vitro testing. Minimum inhibition concentration (MIC) was determined by standard protocol. The supplement (LiveLeaf Bioscience, San Carlos, CA) was serially diluted 10 times, then combined with a 150 microliter volume of C. difficile (ATCC BAA-1803) in agar test wells, incubated for 24 hours, and visually evaluated for growth. In vivo testing. With parental consent, a prospective open-label study was conducted in a pediatric gastroenterology outpatient clinic on patients with chronic diarrhea and C. difficile toxin who had not responded to standard treatment. Those who were still C. difficile enterotoxin A positive were given a polyphenol-based supplement daily in serving sizes based upon weight. Symptoms were monitored for up to 21 days and stools retested for the presence of C. difficile toxin A one week after the treatment period ended.

Results: The MIC for the bacterium was equivalent to one serving of the supplement. A total of 16 patients, ranging in age from one month to 16 years, with chronic diarrhea and additional symptoms of abdominal pain, rectal bleeding, and growth failure, were monitored and treated. Following consumption of the supplement, diarrhea resolved completely in 12 (75%) of the patients, with the median time to resolution within 14 days. Thirteen (81%) of the patients without inflammatory bowel disease (IBD) were found to be C. difficile toxin A negative in post-treatment stool sampling. Of the three patients who remained toxin A positive, one had complete symptom resolution, one had reduction in diarrhea, and one with comorbidity of Crohn’s disease had no improvement in diarrhea or abdominal pain. No adverse events were reported.

Conclusion: In patients with C. difficile infection, resolution of diarrhea without use of antibiotics is the goal. This bioactive polyphenol supplement was found to inhibit growth of C. difficile at a level equivalent to a single serving size and resulted in resolution of diarrhea and elimination of C. difficile toxin A from stool cultures in the majority of pediatric patients, with no side effects. Resolution of diarrhea in the majority (81%) of non-IBD patients with no side effects using this supplement makes it an attractive alternative to repeated antibiotic treatments.

 

320  ESSENTIAL FATTY ACID DEFICIENCY IN DGAT1-ASSOCIATED CONGENITAL DIARRHEA

Sivan Kinberg, Joseph Picoraro, Susan Brodlie, Maeghan Overley, Amy DeFelice, Columbia University Medical Center, New York, NY, USA

Mutations in DGAT1, which encodes diacylglycerol O-acyltransferase, have been associated with a rare form of congenital diarrhea comprised of protein-losing enteropathy (PLE) and disordered lipid metabolism. Optimal management of DGAT1 deficiency is unknown. It is currently treated by limiting enteral fat intake, which can result in essential fatty acid deficiency (EFAD). We present two patients with DGAT1–associated congenital diarrhea who were successfully weaned off total parenteral nutrition (TPN) and Intralipid (IL) infusions and who developed EFAD.

Patient 1 is a 20-month-old male and Patient 2 is a twoyear-old female who presented with feeding intolerance, vomiting, watery diarrhea and failure to thrive shortly after birth. Cow’s milk protein allergy was suspected, but patients failed treatment with elemental formula and required TPN and IL to maintain growth. Both exhibited PLE (hypoalbuminemia, elevated stool alpha-1 antitrypsin). Patient 1 also had decreased IgG with recurrent infections. Intestinal biopsies were non-diagnostic. Whole exome sequencing of Patient 1 and targeted sequencing of Patient 2 revealed a known pathogenic homozygous c.751+2T>C splice site mutation in DGAT1. Literature suggests that patients with this mutation have impaired lipid absorption and metabolism, so formula was changed to Tolerex (100% free amino acids, 2% of total calories from fat) with a low-fat oral diet. Both patients were subsequently weaned off TPN and IL, diarrhea and vomiting improved, markers of protein malabsorption normalized and both gained weight although remained stunted. Fatty acid (FA) profiles were closely monitored with worsening EFAD (peak triene/tetraene ratio: 0.227 in Patient 1, 0.343 in Patient 2; normal <0.05). In Patient 1, several supplemental enteral oils were trialed, including Microlipid, flaxseed, sunflower and walnut oil, which contain different combinations of linoleic and linolenic acids. Diarrhea worsened on flaxseed oil, and FA profile worsened on sunflower oil and Microlipid. His FA profile began to improve on walnut oil with triene/tetraene ratio decreased to 0.075. Patient 2 was trialed on canola and walnut oil, although adherence was inconsistent. She tolerated a small amount of fat orally with triene/tetraene ratio decreased to 0.098. Both patients have exhibited normal developmental progression.

Dietary modification (dietary fat < 7-10% of total caloric intake) appears to be effective in limiting fat malabsorption and ensuring adequate growth in children with DGAT1-associated congenital diarrhea. However, the main challenge with a low-fat enteral diet is preventing and treating EFAD, which can affect growth and cognitive function in children. FA profiles should be closely monitored for early detection of EFAD. Choice and amount of supplemental enteral oils is limited by diarrhea and fat malabsorption. Further longitudinal study is needed to determine the optimal approach to prevent and treat EFAD in these patients.

 

321  LOW DOSE INTRAVENOUS SOYBEAN OIL EMULSION EFFECT ON CHOLESTASIS IN PEDIATRIC PATIENTS WITH INTESTINAL FAILURE REQUIRING GREATER THAN 75% OF THEIR NEEDED KCAL NEEDS FROM PARENTERAL NUTRITION.

Tatyana Hofmekler, Rene Romero, Emory University/Children's Healthcare of Atlanta, Atlanta, GA, USA

Background: Low dose intravenous soybean emulsion oil has been recommended as an alternative to intravenous fish oil emulsions to prevent parenteral induced liver disease and cholestasis in patients with short bowel syndrome who require prolonged home parenteral nutrition. The potential to use an already available composition of soybean emulsion is attractive because fish oil emulsion is difficult to obtain in the United States. However, there is sparse data tracking liver outcomes of patients with high dependence of parenteral nutrition and low enteral capabilities in the setting of low dose intravenous soybean emulsion oil. We present the outcome of using low dose intravenous soybean emulsion therapy in a single center cohort of pediatric intestinal failure patients. Our patients are maintained in intralipids of 1 g/kg/day or less.

Methods: Out of 71 patients actively followed in a multidisciplinary clinic for intestinal failure, we identified 9 patients who required greater than 75% of their kcal needs from total parenteral nutrition for over one year. Retrospective chart review was done to extract laboratory results, growth measurements, and parenteral and enteral composition. Univariate analysis was conducted to compare patient characteristics between patients that did and did not develop cholestasis.

Results: Four out of 8 patients developed cholestasis. Progression of cholestasis started as early as 12 months or waited up to 36 months after birth. These were the four patients that were not able to advance on their feeds during the course of the study.

Discussion: Low dose intravenous soybean emulsion oil is a good strategy to reduce cholestasis in patients on home parenteral nutrition. However, patients requiring 75% or more of total kcal from parenteral nutrition for one or more years are still at risk to progress to liver disease after one or more years. This suggests the need for continued efforts to provide different formulations of intralipids and develop new therapeutics to help manage these high risk patients.

 

322  INTESTINAL FAILURE - A CASE SERIES FROM A BRAZILIAN REFERENCE CENTER

Vanessa Scheeffer1, Cristina Targa Ferreira2, Melina Melere1, Marília Ceza1, Cíntia Steinhaus1, Eduardo Dias1, Matias Epifanio1, 1Hospital da Criança Santo Antônio, Porto Alegre, RS, Brazil, 2Instituto do Aparelho Digestivo, Porto Alegre, RS, Brazil

Objective: We present a case series of a reference center for intestinal failure from the south of Brazil.

Design: We included patients with intestinal failure types II and III, according to the classification from ESPEN, 2015, that were in-patients from December 2012 through April 2016. Ultra short bowel was defined as a total remaining bowel of less than 20 cm.

Results: A total of 26 in-patients were included. The mean age of diagnosis was 3.8 mo. Regarding the classification of the intestinal failure, 12 patients presented short bowel syndrome, 4 ultra short bowel syndrome, 1 intestinal fistula, 7 dysmotility, 1 mechanical obstruction and 2 had extensive mucosal disease. Intestinal rehabilitation was possible in 12 cases, one being  an ultra short bowel and fibrocystic patient and 2 patients with total colectomy. The mean time to weaning off parenteral nutrition was 50 days. Among the rehabilitated patients, just one is still undernourished. Eight patients had cholestasis associated with parenteral nutrition and just one evolved to hepatic steatosis. Nine patients died, being five due to infection of the central line. Three patients were referred to another hospital so they could be prepared to receive home care, one patient was discharged with home parenteral nutrition and one is still receiving parenteral nutrition in our hospital.

Discussion: Our service shows a similar mortality and rehabilitation rates among intestinal failure compared to other centers and less cases of intestinal failure-associated liver disease. The latter is probably due to the restricted use of 1g/kg of lipids, standard for all patients. Rehabilitation is possible even in ultra short bowel syndrome and in order to reduce mortality, it is essential to control central line infections.

 

TRANSPLANTATION

 

367  SUCCESSFUL LIVING DONOR LIVER TRANSPLANTATION FOR A KOREAN INFANT WITH OXYSTEROL 7 α-HYDROXYLASE DEFICIENCY

Insook Jeong, Kyungmo Kim, Seokhee Oh, Beomhee Lee, Hanwook You, Jungman Namgung, Daeyoen Kim, H. Nittonto, A. Kimura, Asan Medical Center, Seoul, South Korea

Background: Inborn errors of bile acid synthesis constitute an expanding category of rare genetic disorders accounting for neonatal cholestasis. Nine inborn errors of bile acid synthesis have been reported, including oxysterol 7α-hydroxylase deficiency. This rare inborn error of bile acid synthesis often progresses to fatal liver failure during infancy. So far, only a few patients with an oxysterol 7α-hydroxylase deficiency were reported, particularly treated with heterozygous living donor liver transplantation.

Case Report: A 3-month-old Korean male infant was brought to our institute because of protracted neonatal cholestasis with progressively deteriorating liver function. Jaundice was noted at one week after birth and persisted with mild hepatosplenomegaly. Laboratory tests demonstrated elevated AST/ALT, normal rGT, conjugated hyperbilirubinemia and profound coagulopathy (PT INR: 4.16), indicating hepatic failure. Giant cell hepatitis with cirrhotic change was observed on liver biopsy. Urine bile acids analysis by LC/MS/MS using dried urine spots (kindly done by Drs. Kimura & Nittono, Japan), revealed profuse excretion of 3β-monohydroxy- Δ5-bile acid derivatives, strongly suggesting an oxysterol 7α-hydroxylase deficiency at four months of age. We sequenced the CYP7B1 gene, identifying compound heterozygotes of p.Arg388Ter and p.Tyr469Ilefs*5. Initially, he was on ursodeoxycholic acid but his liver function has been worsening. He eventually received LDLT at age seven days after the diagnosis. At present (eight months of age), his liver function is perfectly normal as his growth and development.

Conclusion: We report the first Korean patient with an oxysterol 7α-hydroxylase deficiency diagnosed by urine bile acid analysis and confirmed by the CYP7B1 gene analysis. Our patient has severe mutations and hepatic failure and successfully treated by parental donor.

            Urine bile acid analysis by LC/MS/MS using dried spot urine

Total bile acid

54.3 (mmol/molCr)

100%

Usual bile acids

6.9

12.7%

Hydroxylated bile acids

0.1

0.2%

3β-hydroxy-Δ5-bile acids

47.0

86.5%

3-oxo-Δ4-bile acids

0.2

0.4%

 

368  SUCCESSFUL LIVER TRANSPLANT IN AN INFANT PRESENTING WITH LIVER FAILURE ASSOCIATED WITH PYRUVATE KINASE DEFICIENCY

Marie-Eve Chartier1, Massimiliano Paganelli1, Najma Ahmed2, Fernando Alvarez1, 1Division of Gastroenterology, Hepatology and Nutrition, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada, 2Division of Gastroenterology, Hepatology and Nutrition, Montreal Children’s Hospital, McGill University, Montreal, QC, Canada

Background: Pyruvate kinase deficiency (PKD) is the most common cause of congenital non-spherocytic chronic hemolytic anemia and results from an erythrocyte enzyme defects. Patients with pyruvate kinase deficiency can have a broad spectrum of clinical manifestations, ranging from mild asymptomatic anemia to severe and transfusion dependent anemia. Most patients normally present with some degree of hemolysis, hyperbilirubinemia, anemia and splenomegaly. Only few reports have documented associated severe progressing liver failure.

Aims: To describe the case of an infant with severe pyruvate kinase deficiency leading to liver failure and requiring liver transplantation.

Methods: We retrospectively reviewed the medical chart of our patient with pyruvate kinase deficiency and liver failure. All articles about such a rare complication of pyruvate kinase deficiency published in the English literature from 1962 to October 2015 were reviewed.

Results: Our patient presented with severe hemolytic anemia and cholestasis at birth, requiring double exchange transfusion and repeated transfusions thereafter. He subsequently developed progressive cirrhosis, portal hypertension, ascites and liver failure requiring prolonged hospitalization and biweekly paracentesis. Two liver biopsies done more than one month apart showed progressive liver fibrosis. Despite extensive investigations, the only identified etiology for cholestasis and liver failure was compound heterozygous mutations for PKD and single heterozygous mutation for ABCB4, the latter being a likely benign variant. The patient was transplanted at 6 months of age and underwent a splenectomy during the same intervention. Following the liver transplantation, he has remained transfusion-free and has maintained normal liver enzymes and bilirubin level. To the best of our knowledge, only three cases of severe hepatic failure secondary to PKD have been reported but this is the first to have successfully undergone liver transplant.

Conclusions: The hepatic failure in patients with severe pyruvate kinase deficiency is most likely multifactorial, involving prenatal hemolysis with subsequent bile ducts obstruction, minimal inflammation secondary to iron overload, possible anomaly in the iron hemeostatic regulatory protein and extramedullary hematopoiesis. However, the most likely explanation is that genetic mutations of PKLR in our patient affect both the expression of PK-R (in erythrocytes) and PK-L (in hepatocytes) with an inappropriate compensation of PKM2, leading to severe and fatal enzymatic defect.

 

369  CASE OF MYCOPHENOLATE MOFETIL INDUCED COLITIS IN A PEDIATRIC PATIENT

Sana Mansoor, Katryn N Furuya, Michael A McCulloch, Fernando DelRosario, Katrina Conard, Nemours/A.I duPont Hospital for Children, Sidney Kimmel Medical College at Thomas Jefferson University, Wilmington, DE, USA

Background: Mycophenolate Mofetil (MMF) is an immunosuppressive agent commonly used after solid organ transplant. Gastrointestinal side effects occur in approximately 45% of patients and MMF colitis is a well described entity in adults. However there is only one published pediatric case series to date of 2 children with MMF induced colitis.

Case History: 9-year-old female with hypoplastic left heart syndrome that underwent cardiac transplant at one year of age whose immunosuppression consisted of MMF and Rapamycin. Her post-transplant course was complicated by development of EBV induced post-transplant lymphoproliferative disorder treated with Rituximab, smooth muscle tumors of liver, spleen and colon requiring resection and chronic colitic symptoms. After a brief period of improvement she presented with several months history of chronic abdominal pain associated with frequent bloody diarrhea, tenesmus, fevers, decreased appetite and precipitous weight loss. She was admitted for further evaluation and colonoscopy revealed severe diffuse colitis with deep ulcers and erythema. Pathology demonstrated chronic colitis with submucosal granulomas. No evidence of PTLD was found. Due to concerns for potential atypical mycobacterial and pseudomembranous infections, an extensive infectious workup was completed which was negative. Given our suspicion of MMF-induced colitis we elected to discontinue MMF and she was switched to low dose azathioprine (25 mg daily) concomitant with Rapamycin. Within 2 weeks of discontinuation of MMF her oral intake increased and she was quickly weaned off TPN. She had complete resolution of her GI symptoms. A cardiac catheterization with biopsy prior to discharge showed no signs of organ rejection. On her one-month followup in GI clinic she continues to be in excellent health with no abdominal pain or tenesmus, 1-2 soft non-bloody stools daily, increased appetite and weight gain (11lbs over 2 months).

Discussion: The spectrum of histological findings of MMF induced colitis can range from characteristics similar to ischemic colitis, IBD, Graft versus host disease, non-specific colitis with minimal changes. Unusually late onset cases (>13 years) of MMF induced colitis following solid organ transplant including cardiac transplant have been described. Often there is no correlation with MMF dosing. Treatment is discontinuation of the medication. Therefore despite lack of reported pediatric cases, it is important to keep MMF induced colitis in differential for any post-transplant recipient with new onset of colitic symptoms.

 

370  GENE IDENTIFIED FOR CHRONIC INTESTINAL PSEUDO-OBSTRUCTION (CIPO): INDEX CASE

Richard Mangus, Indiana University School of Medicine, Indianapolis, IN, USA

MN is a 38-year-old female who developed chronic intestinal pseudo-obstruction (CIPO) at age three. She became dependent upon total parenteral nutrition (TPN) at that time. She subsequently received daily TPN for 35 years, before developing liver cirrhosis and recurrent infections of her central venous catheter (CVC). Of note, the affected patient delivered a healthy female infant at age 33. This child also developed CIPO at a young age and is TPN dependent. The patient developed electrolyte abnormalities and renal dysfunction requiring frequent hospitalizations. She required home intravenous narcotics for pain control, as well as anti-emetics and a venting gastrostomy tube. The patient maintained good vascular access. She developed symptoms of liver dysfunction, including gastrointestinal bleeding related to portal hypertension. She had several episodes of life-threatening blood stream infections. Her body mass index was 18. The patient elected to pursue intestine transplant as a life-saving measure.

The patient underwent multivisceral transplant (2015) which included the simultaneous transplantation of the liver, stomach, duodenum, pancreas, and large and small intestine. The native esophagus was anastomosed to the transplant stomach primarily, with a fundoplication wrap. A pyloroplasty was performed on the pylorus of the transplant stomach. The donor right colon was anastomosed to the patient’s native left colon. No ostomy was formed. A gastrojejunostomy feeding tube was placed in the patient’s transplant stomach.

Her post transplant course was complicated by delayed function of the transplant intestine because of the patient’s dependence on high dose narcotics for post-operative pain. Additionally, the patient had unrecognized dysfunction of her esophagus, related to her lifelong intestine dysfunction. She experienced dysphagia, and was noted to have a dilated and poorly functioning esophagus on imaging and electrophysiologic testing. Over the course of several weeks, the patient was weaned from narcotic pain medication, which allowed her to be weaned from TPN, and she became enteral independent. After several months, she was able to tolerate oral intake and was weaned from supplemental enteral feeds. The patient gained 25 pounds and experienced improved strength and stamina.

Prior to transplantation, the patient agreed to provide tissue to the non-profit Center for Human Genetics, Inc. (Dr. Aubrey Milunsky, Boston, Massachusetts, USA) for gene analysis in an attempt to identify the cause of CIPO. Six months after transplant, the patient was notified that a genetic defect was identified in the patient and her daughter, and was associated with her disease. The identified gene is a mutation in the smooth muscle enteric actin gene, ACTG2. Published probands total 45. Subsequent testing has identified 64% of affected patients to have the ACTG2 mutation. The Center recommends familial testing of affected individuals, and offers prenatal genetic testing.

 

371  8-YEAR SURVIVAL AFTER 6-ORGAN MULTIVISCERAL TRANSPLANT

Richard Mangus, Indiana University School of Medicine, Indianapolis, IN, USA

LS is a 10-year-old female with a history of biliary atresia. She had a failed Kasai procedure and developed end-stage liver disease. Her liver failure was complicated by gastrointestinal hemorrhage and she was listed for emergent liver transplant. She underwent whole organ orthotopic liver transplant at 14 months of age, but developed hepatic artery thrombosis. She also was noted to have portal vein atresia with poor portal inflow. The graft failed 13 days after transplant. The patient emergently underwent a second liver transplant, using a left lateral segment liver graft. She recovered and was discharged to home. The patient developed acute gastrointestinal hemorrhage 9 months after the second transplant. She was found to have severe portal hypertension. Radiologic imaging demonstrated poor portal vein flow with cavernous transformation, partially related to venous outflow obstruction and partially from poor portal inflow. She had poor liver function resulting in end-stage liver failure complicated by ascites, hepatosplenomegaly, hydrothorax and poor synthetic function. Interventions including angioplasty and stenting were attempted, but failed. As a life-saving measure, the patient was listed for multivisceral transplant. While on the waitlist for transplant, she required critical care management and went into renal failure. She required continuous veno-venous hemodialysis. Therefore, she was listed for combined multivisceral and kidney transplant.

Donor organs became available for this patient. However, the donor was an infant. With the small size of the kidneys, transplantation of a single kidney was not possible. Therefore, a composite graft was procured on a full aortic pedicle. Organs included the liver, stomach, pancreas, small intestine, and right and left kidney. The donor aortic graft was anastomosed to the native aorta, and the vena cava was anastomosed in a piggyback fashion to the hepatic veins. The transplant stomach was anastomosed to a remnant of the recipient stomach. The terminal ileum was anastomosed to the native colon with a protective chimney ostomy formed. The patient recovered well. She was discharged from the hospital one-month after the multiorgan transplant, off of parenteral nutrition and tolerating enteric feeds.

This patient is now 10 years old. She has normal growth and development. She is in her appropriate grade at school. She is able to play sports. She is maintained on tacrolimus-based immunosuppression. This case demonstrates the potential for multiorgan transplantation as a salvage procedure for children who fail other therapies.

 

373  LIVER TRANSPLANTATION FOR MAPLE SYRUP DISEASE

Nada Yazigi, MedStar Georgetown Transplant Institute, Washington, DC, USA

Long-term medical management for MSUD has proven not optimum as compliance with the strict diet becomes increasingly challenging for those patients, who remain therefore at very high risk for chronic neuro-psychiatric damage and for life-threatening metabolic crisis.

Liver transplantation has proven to be a safe treatment option for patients with MSUD, offering and excellent metabolic control and allowing to liberalize the diet and optimize quality of life.

We report liver transplantation completed successfully on eight MSUD patients; five of them successfully dominoed their livers into three adults and two pediatric age patients. For a medium FU of eight months, all recipients are on fully normalized diet and have excellent metabolic control. School performance and quality of life improved in older kids, and the youngest have shown expressive and cognitive improvement. Complications included: 1 biliary stenosis that resolved with interventional radiology stenting, 2 steroid-sensitive acute rejection and 2 steroids-resistant rejection episodes (at 6 and 12 months of transplant). Mild proteinuria and transient insulin resistance were noted in the patients > 5 y of age. All 5 MSUD liver recipients are also doing well, with excellent graft function and normal serum amino acid profile. One MSUD liver recipient experienced an episode of acute rejection within 6 months of transplant that recovered fully with treatment.

Conclusion: Liver transplantation is an excellent treatment option for MSUD and allows those patients to liberalize their diet and life style, improving their quality of life and resolving the risk of life-threatening metabolic crisis. Domino transplantation of MSUD livers assures a great organ saving scheme in an era of organ shortage. A tendency for higher incidence of rejection and chronic kidney disease calls for modification of average post-transplant immune-modulation in MSUD patients.

 

Friday, October 7, 2016

 

POSTER SESSION I

12:00 – 2:00 PM

 

CELIAC AND OTHER LUMINAL DISORDERS

 

457  CELIAC DISEASE PRESENTING AS INTUSSUSCEPTION FROM GIARDIA LAMBLIA

Adam Paul, Children's Hospital at Lehigh Valley Health Network, Allentown, PA, USA

A Seven--year-old male presents to primary care office with acute onset of abdominal pain and two episodes of watery diarrhea after camping in Vermont. Pain severity prompting abdominal ultrasound which showed reactive mesenteric nodal prominence, with nonreducible ileoileal intussusception in right lower quadrant, as well as five small bowel-small bowel intussusceptions. Subsequently bowel rest and observation yielding resolution of symptoms. One week following discharge patient returned with abdominal pain, persistence of diarrhea, and abdominal ultrasound showing 2 small bowel to small bowel intussusceptions which again spontaneously resolved. Tissue transglutaminase IgA testing at symptom onset was positive (137 U/mL). Stool testing was obtained, and yielded only a positive result for Giardia lamblia which was treated with metronidazole with complete resolution of symptoms.

Endoscopy with biopsies yielding duodenal mucosa with increased intraepithelial lymphocytes and focal mild villous blunting consistent with Celiac disease.

Though previous case reports suggest Giardia lamblia histopathologically and serologically resembles Celiac disease and that gluten-free diet may not be necessary given the proposed mimicry, we suggest thorough evaluation for Celiac disease in all patients regardless of infectious history if symptoms or serologies suggestive diagnosis.

Following diagnosis, the index patient's twin brother who was asymptomatic, was diagnosed with Celiac disease by duodenal biopsy after screening serologies became positive.

There has not been recurrence of symptoms for the index patient while maintaining strict gluten-free diet.

 

458 A RARE CASE OF PYLORIC GLAND METAPLASIA IN THE COLON OF A PEDIATRIC PATIENT WITH MIXED CONNECTIVE TISSUE DISORDER

Linda Wang, Ali Khalili, Shahrazad Saab, Thomas J. Sferra, Jonathan Moses, Pediatric Gastroenterology, Hepatology & Nutrition, UH Rainbow Babies & Children’s Hospital, Cleveland, OH, USA

Background: Pyloric gland metaplasia represents an expansion of the ulcerative cell lineage (UACL) known as the gastrointestinal repair kit. It has been noted to arise with recurrent ulcerations in the small intestine and is often found in ileal biopsies of patients with Crohn’s disease. We present a rare case of pyloric gland metaplasia found in the colon of a pediatric patient.

Case report: The patient is a 14-year-old female with a history of mixed connective tissue disease who was referred to pediatric gastroenterology for chronic abdominal pain and diarrhea. She described the pain as diffuse and constant with acute postprandial worsening. Review of systems was significant for frequent mouth ulcers, dysphagia, and non-bloody diarrhea. The diarrhea began at the initiation of mycophenolate two years ago. She was also receiving amlodipine, plaquenil, and naproxen. Upper GI endoscopy and colonoscopy was unremarkable except for mild inflammation of the distal rectum. Mucosal biopsies revealed mild active colitis of the cecum as well as minimally active colitis with focal pyloric gland metaplasia of the right colon. The patient was started on a proton pump inhibitor and hyoscyamine with repeat endoscopy planned in six months.

Discussion: Pyloric gland metaplasia is well documented in the small intestine, however to our knowledge this is one of the few cases found in the large intestine and might indicate the presence of a similar reparative mechanisms as those found in the small intestine. The etiology of this finding in our patient is currently unknown and includes medication adverse effect, autoimmune, or chronic inflammation. While pyloric gland metaplasia has been associated with Crohn’s disease, at this time our patient has no additional evidence of this disease.

 

459 A CASE OF CHOLECYSTOENTERIC FISTULA SECONDARY TO DUODENAL ULCER IN A CHILD

Allison Ta1, Otto Louis-Jacques2, Muhammad Khan2, Suchitra Hourigan2, 1Inova Fairfax Children’s Hospital, Falls Church, VA, USA, 2Pediatric Specialists of Virginia, Digestive and Liver Disorders Division, Fairfax, VA, USA

Background: Cholecystoenteric fistulas (CEF) are rare complications of biliary disease or peptic ulcers, and generally require surgery. There are very few reports in children. We report a pediatric case that was successfully treated medically.

Case Report: A 10-year-old female with a history of hypothyroidism presented to the hospital with complaints of headaches, vomiting, abnormal gait, and upper extremity weakness for ~8 months. She had taken ibuprofen or acetaminophen several times a week. An MRI showed a large posterior fossa tumor, so she was admitted to the hospital. On hospital day (HD) 4, she underwent surgical debulking of the tumor. Dexamethasone was started on HD1 and weaned post-operatively. Nasoduodenal feeds and famotidine were started on HD8.

On HD11, she became acutely hypotensive and her hemoglobin dropped from 10 to 5.1g/dL. She had complained of epigastric pain the preceding few days. A nasogastric (NG) tube brought back brown colored fluid. She was given IV fluids and transfused. An urgent EGD showed a large duodenal ulcer, without active bleeding. An orifice was seen medially, within the ulcer bed (Fig1A). An abdominal CT revealed air and contrast in a normal-appearing gallbladder, with a small communication between gallbladder and duodenum, consistent with a CEF (Fig1C&D). She had no history gallbladder disease.

She was started on IV proton pump inhibitor (PPI), total parenteral nutrition, and NG tube was placed for gastric decompression. As the patient continued to have melena, an EGD was repeated on HD20. It showed the fistula surrounded by ulcerated tissue, a small amount of blood and bile flowing out of fistula. Attempts to place a clip on the edges of the ulcer bed were unsuccessful. PPI was switched to a continuous drip and the bleeding resolved. Repeat EGD (Fig1B) and CT on HD36 showed a healed ulcer and closure of the fistula. She was transitioned to oral PPI and NG feeds were resumed. She had no further complications before transfer to a rehabilitation facility. At follow-up, 3.5 months later, there was no recurrence of bleeding.

Discussion: CEF are unusual complications of biliary tract disease. More rarely, they can arise from a perforated duodenal ulcer, a rare entity in children. Our patient's ulcer was likely secondary to a combination of prolonged NSAID use, stress related to brain tumor, and perioperative systemic steroids. Findings of pneumobilia or contrast in the biliary tree on X-ray or CT suggest the diagnosis, which can be confirmed via endoscopy. Management is most often surgical. However, as illustrated by our case, in the absence of complications, medical therapy aimed at healing ulcer can be successful.

Figures

1A) Initial EGD showing large ulcer and open orifice in proximal duodenum. B) Follow-up EGD on HD 36 shows healed ulcer. C&D) Abdominal CT (sagittal and coronal planes) showing contrast and air in biliary tree (arrows) consistent with a CEF.



460  SPONTANEOUS GASTRIC PERFORATION IN TWO ADOLESCENTS

Amaka Akalonu, Zarela Molle Rios, MonaYasrebi, Nemours/A.I.DuPont Hospital for Children, Wilmington, DE, USA

Case 1: 11-year-old female presented with three days of abdominal pain and nonbilious vomiting. Physical examination showed tachycardia; tense and distended abdomen with involuntary guarding. Laboratory results - WBC of 18,000 with 25% bandemia. Abdomen CT demonstrated pneumoperitoneum and ascites. Emergent laparoscopy showed 1 cm x 1 cm gastric perforation in anterior distal stomach repaired with an omental patch. Stool Helicobacter pylori enzyme linked immunosorbent assay (EIA) was negative. She was discharged on omeprazole 40 mg daily. Surveillance upper endoscopy five months later and histopathology was normal. She was weaned off omeprazole after eight months and doing well.

Case 2: 15-year-old male presented with one day of severe periumbilical abdominal pain and left shoulder pain. Physical examination showed right lower quadrant tenderness and guarding. Laboratory results- WBC 16,000. Chest x-ray demonstrated free air under the diaphragm. Emergent laparoscopy showed 3mm perforation near the lesser curvature repaired with a Graham patch. Stool Helicobacter pylori EIA was negative. He was discharged on lansoprazole 30mg twice daily. Surveillance upper endoscopy two months later was negative with normal histopathology. He was weaned off lansoprazole but lost to follow-up.

Discussion: Spontaneous gastric perforation is rare with unclear etiology. Reports in neonates, preschool children and adults exist, but none in adolescents.

In neonates, etiologies include congenital defects of the gastric wall, mechanical disruption, stress ulceration secondary to neurogenic disorders and ischemia of the gastric wall. Reported risk factors include prematurity and nasal ventilation. Majority of neonatal gastric perforation occur in the anterior side of the greater curvature. In preschool children etiologic postulations include elevated intraluminal pressure and ischemia of the gastric luminal wall. In adults, majority are caused by carcinoma or peptic ulcer. A female predominance has been noted with majority of ruptures occurring around the lesser curvature.

Clinical features in neonates include poor activity; abrupt onset abdominal distention and respiratory distress while in adults include abdominal distention, abdominal rigidity, subcutaneous emphysema and shock.

Imaging features include pneumoperitoneum; evidence of oral contrast extravasation with gastric wall irregularity or disruption. Treatment is surgical. Gastric defect could be repaired using simple closure or by partial gastrectomy. In children repair by simple closure rather than sleeve gastrectomy is preferred because of associated feeding difficulties with sleeve gastrectomy.

We report two adolescent patients with spontaneous gastric perforation. Our patients had perforations near the lesser curvature. Both patients were negative for Helicobacter pylori or NSAID use which has been noted to cause ulcerations and if untreated could lead to perforation.

 

461  CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY IN A 14-YEAR-OLDFEMALE DIAGNOSED WITH INVASIVE ADENOCARCINOMA

Amber Hildreth1,2, Mark A. Valasek1, Irene Thung1, Thomas Savides1, Mamata Sivagnanam1,2, Sonia Rammamorthy1, Sherry Huang1,2, 1University of California - San Diego, San Diego, CA, USA, 2Rady Children's Hospital, San Diego, CA, USA

Introduction: Constitutional Mismatch Repair Deficiency (CMMRD) is a rare autosomal recessive disorder characterized by early onset cancers as early as the first decade of life. It is caused by inherited bi-allelic mismatch repair (MMR) gene mutations, most commonly PMS2. This is in contrast to Lynch Syndrome, in which patients have a heterozygous mutation in one of the MMR genes. Affected individuals have been described with childhood onset of gastrointestinal tumors, brain tumors, and hematologic malignancies. We present a case of a 14-year-old who was diagnosed with invasive adenocarcinoma, found to have two pathogenic PMS2 mutations.

Case Description: Our patient is a 14-year-old previously healthy female born to non-consanguineous healthy parents who was initially admitted to the hospital for a right UPJ obstruction and underwent ureteral stent placement. Initial presenting symptoms included fever, fatigue, lower quadrant abdominal pain, and vomiting. Her postoperative course was complicated by continued abdominal pain and fever, as well as an episode of rectal prolapse. An abdominal and pelvic CT was performed on postoperative day 6. This was notable for diffuse ascites, bowel wall thickening, and organizing fluid collections within the pelvis. She then went to the OR for exploratory laparotomy and washout. Peritoneal fluid cultures grew polymicrobial organisms suggestive of gut translocation, however there were no intraoperative findings suggesting a source. Once her fevers resolved she was discharged home.

A few months after this she had a screening US to evaluate her right kidney, which noted a 3cm soft tissue mass presumed to be near the sigmoid colon. A follow-up MRI showed nearly circumferential thickening of the sigmoid colon. The patient was taken for EGD and colonoscopy. Findings were significant for two tubular adenomas in the colon at 25cm and 30cm, moderately differentiated adenocarcinoma at 24cm, a moderately differentiated adenocarcinoma in the rectum, and an anorectal mass with moderately differentiated adenocarcinoma arising in the background of tubulovillous adenoma with extensive high-grade dysplasia. Immunohistochemical staining was positive for CDX2, CK7, CK20, and villin. There was no loss of expression of MLH1, MSH2, and MSH6. There was however loss of expression of PMS2 in both tumor and non-tumoral cells. Genetic testing revealed two heterozygous PMS2 pathogenic mutations: c.137 G>T (amino acid alteration pSer46Ile) and c.1831dupA (frameshift) consistent with a bi-allelic inheritance pattern. She was started on chemotherapy and radiation prior to total colectomy.

Discussion: Although colorectal cancer in children is rare, our case demonstrates that even invasive disease can be diagnosed in the pediatric population. It is important to recognize CMMRD given its association with numerous potentially life threatening malignancies.

 

462  COLORECTAL CANCER IN A PEDIATRIC PATIENT WITH HEMATOCHEZIA

Annette Vannilam, Ismaeel Hashemi, Jordan Whatley, Emily Nagel, Helen DeVos Children's Hospital, Grand Rapids, MI, USA

Introduction: The incidence of colon adenocarcinoma is 1.3 to 2 per 1 million children. The prognosis is generally poor with a five-year survival rate of 7-12% and rapid tumor growth in children. While 60% of patients present with intestinal obstruction, some present with fever, weight loss, abdominal pain, and rectal bleeding.

Case Presentation: We report a 12-year-old male with a history of eczema and food allergies who presented with five months of painful defecation, weight loss, and intermittent hematochezia. His symptoms included vague periumbilical pain and ten bowel movements daily of semi-formed brown stools with some of the stools having bright red blood mixed in and no improvement in abdominal pain with defecation. He denied fever, nausea, vomiting, reflux, diarrhea, nighttime stools, tenesmus, or encopresis. Family history was positive for ulcerative colitis in his maternal aunt and maternal grandfather and Marfan syndrome in his father, brother, and sister. The patient’s physical exam was benign with some palpable stool in his LLQ without oral sores, abdominal tenderness, or anal fissures. Initial labs revealed a white blood count of 5,390/uL, hemoglobin of 10.9 g/dL, platelets of 405,000/uL, and CRP of 2.3 mg/L. His colonoscopy, however, showed poorly differentiated mucinous signet ring adenocarcinoma in his rectum. The initial abdominal CT showed an infiltrative lesion in the rectum extending into the lower sigmoid measuring 56 x 47 mm transversely and 93 mm longitudinally, with no metastasis. Pelvic MRI shows circumferential extension of the rectal mass into the perirectal fat and mesorectal fascia, compatible with a T3 lesion. The patient underwent eight cycles of FOLFOX chemotherapy with fluorouracil, oxaliplatin, and leucovroin, and subsequent chemo-radiotherapy prior to operative removal of the mass.

Discussion: This case highlights that colorectal cancers, although rare in the pediatric population, must be kept in the differential diagnosis of pediatric patients with hematochezia. Conservative management of pediatric patients with rectal bleeding may prolong the diagnosis of malignancy and worsen prognosis.

 

463  MODIFICATIONS IN SPLEEN SIZE IN CHILDREN WITH CELIAC DISEASE

Beata Acs1,2, Alina Popp1,2, Vasile Balaban1, Mariana Jinga1, Catalina Bardas2, 1“Carol Davila” University of Medicine and Pharmacy, Bucharest, Bucharest, Romania, 2“Alessandrescu-Rusescu” Institute for Mother and Child Health, Bucharest, Romania

Background: Celiac disease (CD) is an autoimmune systemic disorder triggered by gluten ingestion in genetically susceptible individuals. It affects around 1% of population(1). Spleen atrophy can be associated with CD, especially in adult patients (2, 3).

Aim: The aim of this study was to evaluate the spleen length and function in children with CD.

Methods: Between October 1st ,2015 and  February 29th, 2016 altogether 41 children with CD and 41 control group of healthy age- and sex-matched children were prospectively invited to abdominal ultrasound examination. The longitudinal diameter of the spleen was measured and the results were evaluated using international normograms(4). Data on gluten-free diet was collected and correlations between spleen diameter and laboratory data (celiac-type serology, total serum IgA and complete blood count parameters) were done for children with celiac disease.

Results: Median age of CD children was 84 months (age range 1-18 years old, 21 girls and 20 boys). 83% of total number of CD children was on gluten-free diet since at least 3 months (mean 2 years), 17 % were recently diagnosed having a gluten-containing diet. Total serum IgA level was normal in all cases. In CD children a lower spleen length occurred in 56.09% of cases (n 23). Three of them had gluten-containing diet. Altogether 10/14 CD children with positive serum antibodies had lower than normal for age spleen length. No hematologic signs of spleen hypofunction were detected in CD children. In healthy children group lower spleen length occurred in 27% of cases, median age of children with lower spleen length in control group was 53,5 month.

Conclusions: Our results show that in CD patients a lower spleen length has a high frequency compared to control group and apparently is not influenced by gluten-free diet or presence of serum antibodies. It might be caused by other mechanism, the presence of autoantibodies against the spleen(5). No hematologic signs of spleen hypofunction were detected. The results need to be validated in larger studies and raise questions on the impact of the small spleen size in children with CD.

1. Mustalahti K, Catassi C, Reunanen A, et al. The prevalence of CD in Europe: results of a centralized, international mass screening project. Ann Med 2010; 42: 587–95; 2. Antonio Di Sabatino, Laura Brunetti, Gabriella Carnevale Maffè, et al. Is it worth investigating splenic function in patients with celiac disease?; World J Gastroenterol. 2013 April 21; 19(15): 2313–2318; 3. Ludvigsson JF, Bai JC, Biagi F et al. Diagnosis and management of adult coeliac disease : guidelines from the British Society of Gastroenterology. Gut.2014;63:1210-1228; 4. Megremis SD, Vlachonikolis IG, Tsilimigaki AM. Spleen length in childhood with US: normal values based on age, sex and somatometric parameters. Radiology 2004, 231; 129-134; 5. A. Bullen, R Hall, G. Gowland, S. Rajah, M.S. Losowsky. Hyposplenism, adult coeliac disease and autoimmunity; Gut, 1980, 21, 28-33

 

464  SEVERE CASE OF ANEMIA WITH DIARRHEA IN AN IMMIGRANT CHILD

David Freestone1, Ojasvini Chaudhry1, Nina Zook2, Mollie Walton2, Fernando Zapata1, 1University of Nebraska School of Medicine, Omaha, NE, USA, 2Creighton University School of Medicine, Omaha, NE, USAIntroduction: Trichuris trichiura (T. trichiura), commonly known as “whipworm” is one of the most prevalent nematode infections worldwide. T. trichiura is a soil-transmitted helminthiases along with hookworm and Ascaris. It occurs frequently in tropical climates and can also occur in temperate climates during warmer months. Transmission occurs with the ingestion of eggs which is typically associated with poor hygiene. It is estimated that 604-795 million people in the world are infected with this parasite. In endemic regions, the ages 2 to 10 are the most heavily parasitized. Children are particularly susceptible to infection due to their increased exposure risk and still-developing immune system.

Case Presentation: A three-year-old Hispanic boy was admitted to Children’s Hospital for chronic diarrhea, tachycardia and paleness. He recently migrated from Mexico 10 days prior to admission. Initial Evaluation was significant for Hemoglobin: 4.7, RBC: 3.7, MCV: 55, Eosinophil count: 500, Reticount: 2%, Normal Chem 14, normal hemoglobin electrophoresis, low iron and ferritin counts, negative Meckel Scan. Patient received three blood transfusions and noted to have eosinophils elevated to 900. Ongoing evaluation included ESR and CRP, positive hemoccult, negative stool cultures, O&P was initially negative. But when reviewed O&P revealed Trichuris Trichiura (T. trichiuria) presence in the stool. The patient was treated with Albendazole and iron. He showed improving symptoms and was later discharged from Children’s Hospital of Omaha.

Clinical Features: Patients can suffer from light or heavy infections. Light infections usually have no symptoms. More severe infections can lead to Trichuris Dysenteric Syndrome (TDS). Symptoms cay include chronic, bloody mucoid diarrhea, small frequent stool, tenesmus, iron-deficiency anemia, severe malnutrition, eosinophila, and rectal prolapse. It is estimated that 500 worms or more are needed to provoke a full TDS, but a few hundred can also cause the disease.

Diagnosis: Long-term Gastrointestinal complaints associated with whipworm exposure suggest T. trichiura infection. Diagnosis of T. trichiura is through microscopic identification of whipworm eggs in a patient’s stool sample. Fecal concentration is recommended to identify eggs in mild infections.

Treatment: Effective treatment options against T. Trichiura are limited. In a review of 20 random controlled studies, a single dose of albendazole showed an average cure of 28% and mebendazole showed a cure of 36%. Because of this T. Trichiura infections are typically treated for 3 days. If the patient is suffering from anemia, iron supplements may also be used in treatment. A stool exam can be repeated to confirm the infection is gone. Treatment regimen includes Anthelminthic medications; Albendazole 400 mg orally once a day for three days or Mebendazole 100 mg orally twice a day for three days.

Conclusion: T. Trichiura infection can be prevented by hand washing, proper cooking techniques and minimizing feces contamination. Most cases are mild and do not cause severe illness. However, more severe infections can lead to Trichuris Dysenteric Syndrome and iron deficiency anemia. Because of this it is important to recognize risk factors and promptly treat.

 

465  A CASE OF HEPATIC PORTAL VENOUS GAS IN A PATIENT WITH HYPERTROPHIC PYLORIC STENOSIS

Denease Francis, Sherin Daniel, Michelle Tobin, Richard Scriven, Anupama Chawla, Stony Brook Children's Hospital, Stony Brook, NY, USA

Introduction: Hepatic portal venous gas is the presence of gas within the portal vein and its branches. It was initially described in 1955 as a radiographic sign associated with increased mortality in infants with necrotizing enterocolitis (NEC). Its presence is associated with multiple diseases which may be benign or potentially devastating requiring immediate diagnosis and management. We report a case of a four-week-old male infant with non-bilious emesis and radiographic finding of portal venous gas on abdominal ultrasound (AUS) and abdominal x-ray (AXR) secondary to hypertrophic pyloric stenosis.

Case Presentation: Four-week-old male is brought to the emergency room with a one-week history of multiple episodes of non-bloody, non-bilious projectile emesis occurring every 3rd or 4th feed. Physical exam was significant for olive shaped mass in the mid upper abdomen. Bloodwork done with sodium of 132 mmol/L (135-146 mmol/L), potassium of 2.5 mmol/L (3.5-5.1 mmol/L), and chloride of 80 mmol/L (96-107 mmol/L). Initial imaging with AUS and AXR was significant for portal venous gas but did not meet radiographic criteria for pyloric stenosis. Given the AUS/AXR findings patient was admitted with concern of bowel ischemia. Emesis persisted with multiple subsequent imaging remaining inconclusive for pyloric stenosis. He ultimately underwent upper endoscopy which showed a narrowed, hypertrophic pylorus (Figure 1). He underwent a pyloromyotomy with resolution of his emesis.

Discussion: Hepatic portal venous gas (HPVG) is a rare and usually incidental finding in the setting of hypertrophic pyloric stenosis (HPS). The presence of HPVG on imaging was previously thought to be ominous sign warranting urgent intervention however, with the improved sensitivity of imaging including ultrasound, it is being found in an increasing number of benign conditions. The exact pathophysiology of HPVG remains unclear however, multiple theories have been proposed including that it occurs due to portal venous microbe derived gas production or the migration of intestinal luminal air to the portal system. It is thought that is cases of gastric outlet obstruction, as occurs in HPS, this movement of gas to the portal system occurs through the lymphatics and veins of the intestinal mucosa as a result of increased pressure from intra-luminal dilation. In HPS, hepatic portal venous gas is usually a transient process and resolves within days of gastric decompression. It is important that clinicians are aware of the benign diagnoses associated with this presentation in order to prevent unnecessary work up or delay appropriate surgical intervention.

Conclusions: Hepatic portal venous gas is a radiographic sign with increasing incidence in benign conditions most likely secondary to increased sensitivity of imaging modalities. In the setting of clinical symptoms consistent with pyloric stenosis, HPVG should not prompt repeated unnecessary imaging or delay surgical intervention.

Figure 1                                                                                             Figure 2

 

466  MECKEL’S DIVERTICULUM: A GUT FEELING

Diana Montoya Melo, Huyen Nguyen, Koorosh Kooros, University of Texas Southwestern, Dallas, TX, USA

Background: Meckel’s Diverticulum (MD) is one of the most common congenital anomalies of the gastrointestinal (GI) tract. Clinical manifestations are nonspecific and can include painless rectal bleeding and abdominal pain. 99mTc pertechnetate scintigraphy (Meckel’s scan) is a non-invasive method for investigation; however, other modalities may be necessary to make the diagnosis.

Case: A 4 year-old female was admitted with complaint of abdominal pain, emesis (non-bloody, non-bilious) and melena for one day. Hemoglobin level on admission was 9.4g/dL with a drop to 7.7g/dL within 24 hours. She had been admitted twice in the past three years for similar presentation. Negative work-up included an upper endoscopy, colonoscopy and Meckel’s scan. Repeat Meckel’s scan on first admission, following five days of oral ranitidine, was also negative. On her second admission, upper endoscopy was remarkable for a dieulofoy lesion requiring argon plasma cauterization and two clips. Upper endoscopy and colonoscopy were performed during current admission and showed normal findings. The decision was made to proceed with wireless capsule endoscopy which identified a MD with ulceration. Patient later underwent laparoscopic excision of MD with ileal resection.

Discussion: MD is a congenital GI abnormality that results from the incomplete obliteration of the omphalomesenteric duct. It is considered a true diverticulum because it contains all three layers of the intestinal wall. MD is commonly described using the rule of 2s: 2 percent of the general population, children younger than 2 years of age, 2 feet from the ileocecal valve, 2 inches in length and contains 2 types of ectopic tissue. The typical presentation is painless rectal bleeding and abdominal pain but can include signs of anemia, obstruction, intussusception, diverticulitis and perforation. Meckel’s scan is the diagnostic modality of choice because it is non-invasive and readily available at most tertiary centers. This scan is a nuclear medicine study using 99mTc pertechnetate’s affinity for gastric mucosa to detect areas of ectopic gastric mucosa. It has a sensitivity of about 85 to 97 percent and a specificity of approximately 95 percent. In cases of high suspicion, wireless capsule endoscopy has been used successfully when Meckel’s scan is negative. Once identified, the treatment for MD is ileal resection.

 Conclusion: In cases of high clinical suspicion and negative work-up, wireless capsule endoscopy is a useful tool for diagnosing MD.

 

467  GASTRIC PERFORATION AND GASTRIC EOSINOPHILIA

Shauna Schroeder1, Glenn Furuta2, Gregg Kobak2, Calies Menard-Katcher2, Robert E. Kramer2, 1Phoenix Children’s Hospital, Phoenix, AZ, USA, 2University of Colorado School of Medicine, Digestive Health Institute, Children's Hospital Colorado, Aurora, CO, USA

Background: Gastric perforation is an unusual event that is typically associated with trauma, iatrogenic causes, peptic ulcer disease or foreign body ingestion. We cared for three adolescent female patients who developed gastric perforation with gastric mucosal eosinophilia and in whom Zollinger Ellison syndrome was ruled out. We present these patients to raise awareness of perforation as a potential presentation for this uncommon histological finding.

Case # 1: A 12-year-old female presented with heartburn and abdominal distention to an outside hospital where a KUB was performed that revealed free air in the abdominal cavity. In the operating room, she was found to have a perforated gastric ulcer and gastric mucosal eosinophilia. Upper GI with small bowel follow thru was unremarkable. Subsequent endoscopic examination revealed gross evidence of markedly thickened gastric folds. Dietary restrictions with proton pump inhibition were unable to resolve inflammation and the patient had 2 life threatening bleeds secondary to gastric ulcers. Mucosal assessments revealed a change to a gastric lymphocytic pattern without epithelial disruption and no evidence of duodenitis. Celiac assessment was negative. Topical entocort treatment (entocort capsule 3 mg QD crushed) brought improvement of symptoms, gross and histological features.

Case # 2: A 12-year-old female with an established diagnosis of eosinophilic gastritis (>60 eos /HPF) presented with fatigue and chronic post-prandial epigastric pain while on an elimination diet and proton pump inhibition. Increasing abdominal pain and radiological studies prompted surgical exploration that revealed gastric perforation. Subsequently, she was treated with entocort 6 mg BID and became asymptomatic with normalization of the gastric mucosa. When entocort was stopped, she developed three gastric ulcers with hemorrhage and 83 eos/ HPF in the gastric mucosa. When entocort was restarted, symptoms resolved and mucosa normalized.

Case # 3: A 12-year-old female with an established diagnosis of eosinophilic gastritis who was under treatment with proton pump inhibition and prednisone presented to an outside hospital with abdominal pain, abdominal distention and KUB that identified free air under the diaphragm. Exploration revealed gastric perforation and subsequent endoscopy revealed persistence of her gastric eosinophilia. Treatments with diet restriction, elemental diet and topical steroids were not effective in inducing and sustaining remission. Prednisone brought improvement in pain and eosinophilia but this was not sustainable due to side effects. 6-mercaptupurine was initiated but pain persisted and surgical resection of the ulcer site was performed after 2 months of immunosuppressive treatment. Histology of the ulcer and surrounding sites revealed no eosinophilia, granulomas or cancer and pain has improved.

Conclusion: Gastric perforation may complicate patients with gastric eosinophilia.

 

468  MIDGUT MALROTATION SYMPTOMS MAY BE CHRONIC RECURRENT IN THE OLDER CHILD

Harohalli Shashidhar, Elizabeth Soukup, Carole Rudman, Mark Integlia, John Januario, Elliot Health Systems, Manchester, NH, USA

Case 1: An almost fouryear-old male child presented with history of progressive severe recurrent abdominal pain of several months. The pain is episodic, self-limiting noted to occur after eating or at nap time often doubled up in a knee chest position. Recent pain episodes resulted sleepless nights owing to pain. Celiac screening was normal. An UGI barium study showed malrotation without volvulus. An emergent exploratory laparotomy with Ladd’s procedure showed Intestinal malrotation with an extremely narrow pedicle in a chronic position of volvulus. He returned to the OR a week later for symptomatic near complete obstruction of duodenum for lysis of adhesions with uneventful further recovery. A six-month follow- up showed occasional mild abdominal pain with constipation but no other concerns.

Case 2: Four-year-old female admitted to the hospital for episodes of bilious vomiting and lethargy. She had a history of recurrent self-limiting occasionally bile stained vomiting, fussiness and lethargy since 8-9 months of age. Family had transferred to care to our institution at 2 ½ years of age. An abdominal CT scan obtained at the time had been read as normal. An UGI barium study at 13 months and EGD at 16 months were normal. Use of prophylactic medications for CVS with neurology and metabolic consultations was of limited success.

Review of CT scan at this admission by pediatric surgery revealed abnormal positioning of duodenal sweep and cecum. UGI review was normal. An urgent exploratory laparotomy performed with Ladd’s procedure and reduction of volvulus. Post-operative recovery and follow-up at one year were uneventful.

Case 3: 14-year-old female is seen in the office for daily, sharp severe post prandial upper abdominal pain, nausea without vomiting and sometimes occurring at night. Intermittent symptoms had been present since she was a toddler. Evaluation included negative abdominal US, and positive celiac serology (tissue transglutaminase>185). She underwent an abdominal CT scan upon return to the ED the same day of clinic visit showed findings suspicious for mid-gut malrotation. The mesenteric vessels showed a swirling appearance suggestive of midgut volvulus. Exploratory laparotomy with Ladd’s procedure and reduction of volvulus was performed. Four months follow-up revealed complete resolution of symptoms with EGD confirming celiac disease. She is presently on a gluten-free diet.

Discussion: Up to 2/3 of children with midgut malrotation and volvulus may present with chronic recurrent symptoms beyond infancy. Typical symptoms in older children include recurrent abdominal pain, nausea, and non-bilious vomiting, bloating and early satiety. Careful history, an index of suspicion and a diligent review of imaging studies are important for proper diagnosis. Successful surgical intervention leads to near total resolution of symptoms.

 

469  TRICHO-HEPATO-ENTERIC SYNDROME

Inaki Irastorza1, Estella De La Calle1, Rocio Barrena1, María Legarda1, Carlos Tutau1, Pere Soler2, Mónica Martínez-Gallo2, 1Hospital Universitario Cruces. Upv/Ehu, Barakaldo, Spain, 2Hospital Universitari Vall D'Hebron, Barcelona, Spain

Introduction: Tricho-hepato-enteric syndrome or Syndromic diarrhea is an autosomal recessive disorder first described in 1982, caused by mutation in the genes TTC37 or SKIV2L. The classical form is characterized by early-onset severe diarrhea, hair abnormalities and immune disorders. It is a rare disease with an estimated incidence of 1/1,000,000 births. The case presented here describes a patient with intractable chronic diarrhea, whose genetic study confirmed the diagnosis of Tricho-hepato-enteric syndrome.

Case Presentation: A premature infant boy born with severe intrauterine growth restriction to non-consanguineous parents without any familial significant medical history. For the first months of life he had a normal development and catch-up. At eight months he was admitted to hospital with acute enterocolitis and Enterococcus faecalis bacteremia. At 10th month of life he was suffering from severe failure to thrive, feeding intolerance, protected diarrhea, hypoalbuminemia and hypogammaglobulinemia with absence of immune response after vaccination.

After correcting his malnutrition with parenteral nutrition (PN), absence of antibody production after re-vaccination persisted despite normal lymphocyte subclasses count and absolute immunoglobulins values. Neither cold agglutinins nor ASLO titles were detected. He has never suffered from opportunistic infections. Intestinal and colonic biopsies have showed non-specific inflammatory changes with lymphoplasmacytic and neutrophils infiltration, villous atrophy, ulceration of the mucosa and a disorganized glandular pattern. Hepatic enzymes profile has always been normal. The study of the hair disclosed Tricorrhexis Nodosa in 5% of the samples analyzed. The genetic study confirmed the suspicion of Tricho-hepato-enteric syndrome with two heterozygous mutations in SKIV2L gene: c.2203-1G>A, that results in a splicing defect; and c.3187C>T/p. mutation in Arg1063X, a stop codon. These mutations have never been reported in the literature.

The patient is currently six-years-old, he still suffers from severe intolerance (bloody diarrhea) to any type of food other than elemental diet. The requirements of parenteral nutrition vary along the time between 25% and 100% of his caloric needs. He has a peculiar face, woolly and easily removable hair and delayed psychomotor development. He has been treated with several immunosuppressant drugs (azathioprine, steroids, rapamycin) without any maintained improvement of food tolerance or diarrhea. He receives prophylaxic therapy with Septrin and intravenous gammaglobulins and is orally fed only with elemental formula.

Comments: The case reported shows signs and symptoms often described in this syndrome such as intractable diarrhea, failure to thrive, facial dysmorphism, hair abnormalities and psychomotor retardation. Nonetheless, unlike the classic syndrome, he doesn’t present with liver involvement, but immune disorders and digestive food intolerance are more severe.

 

470  WEED THE CAUSE OF VOMITING

Allen Dsouza, Ali Sanati-Mehrizy, Iona M. Monteiro,, Rutgers New Jersey Medical School, Newark, NJ, USA

Introduction: According to the National Institute on Drug Abuse, cannabis is the most widely used illicit drug in the United States of America. It has been known for its anti-emetic properties which have been used to treat chemotherapy induced nausea and vomiting. However prolonged use has also been known to produce a phenomenon called Cannabinoid Hyperemesis Syndrome (CHS) which manifests as nausea, cyclical vomiting and abdominal pain relieved with hot showers.

Case Report: We present the case of a 14-year-old female with history of intractable nausea, vomiting, diarrhea and diffuse abdominal pain for 3 days. She complained of anxiety and difficulty sleeping. She was on sucralfate and a proton pump inhibitor since her previous admission a month prior. Her past medical history was significant for similar episodes since 2013, leading to multiple admissions and an Esophagogastroduodenoscopy (EGD) in 2014 which showed gastritis for which she was treated. She had an Upper GI study in 2015 that showed decreased gastric peristalsis with delay in transit of contrast into the duodenum and she was started on metochlopromide. Social history was significant for marijuana use, with last use two weeks prior. Her urine toxicology was positive for cannabinoids. As symptoms persisted she underwent EGD which was normal. She had a Psychiatry consult and counseling was recommended. Of note, she was taking several prolonged hot showers during the day, stating that it provided relief of symptoms. Upon literature review, her symptoms were consistent with CHS. The patient and family were counselled regarding CHS and cessation of marijuana use.

Discussion: Cannabis acts on Cannabinoid receptor type 1 and hence is used to treat chemotherapy induced nausea and vomiting. However it has a paradoxical effect as it delays gastric emptying, which could promote nausea and vomiting. In the prodromal phase of CHS there is early morning nausea, abdominal discomfort and the fear of vomiting. The hyperemetic phase manifests as intense nausea, vomiting and abdominal pain leading to ER visits for intravenous fluids, with some requiring inpatient admission and extensive work up with generally negative results. The hyperemetic phase lasts from several hours to several days and tends to recur over weeks to months. It is usually noted by the staff on the unit that patients prefer to take frequent hot showers that cause a temporary cessation of nausea, vomiting and abdominal pain. CHS usually occurs in heavy users of cannabis, who use it daily for years. Most cases are seen in adolescents. Some cases respond to anti-emetics, most require iv hydration. Haloperidol has been reported to lead to significant improvement in some.

Conclusion: CHS is not often considered in the initial differential diagnosis of patients presenting with severe nausea and vomiting. The increasing use of cannabis should prompt physicians to include it in their differential and avoid unnecessary tests and imaging that lead to increased health care costs.

 

471  MASSIVE GASTROINTESTINAL HEMORRHAGE FROM EROSION OF CUSHING'S ULCER IN A CHILD WITH POSTERIOR FOSSA TUMOR

Jennifer Lee Damman, Rachel Bensen, Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA

Introduction: Cushing’s ulcer is a gastro-duodenal ulcer associated with elevated intracranial pressure from a space-occupying lesion or head injury. This is thought to lead to overstimulation of the vagus nerve, resulting in increased gastric acid secretion. Previous studies have suggested that children with posterior fossa tumors represent a significant subset of children with Cushing’s ulcers associated with massive GI hemorrhage. In a case series by Ross et al of 64 children with newly diagnosed brain tumors, 3 of 29 with posterior fossa tumors developed exsanguinating GI hemorrhage from a posterior duodenal ulcer within seven days of craniotomy. This massive hemorrhage was not seen in children with brain tumors outside of the posterior fossa.

Case: A four-year-old girl with newly diagnosed posterior fossa tumor was started on high dose steroids, an H-2 blocker, and underwent resection. On post-operative day (POD) 8, pediatric GI was consulted for large volume hematochezia and drop in hemoglobin. She was started on a pantoprazole drip, made NPO, and had no further bleeding. On POD 10, she had another GI bleed and underwent upper and lower endoscopy, which showed a large posterior duodenal ulcer located near the tip of her feeding tube, with no active bleeding. Colonoscopy was limited due to diffuse melena, but no active bleeding was seen. The patient remained stable and was advanced to full feeds via a new nasogastric tube by POD 12 and switched to oral omeprazole on POD 15. On POD 17 she had large volume hematochezia and hypotensive shock requiring massive transfusion protocol and pressor support. Given severity of bleed and hemodynamic instability, endoscopy was not performed, and she was emergently taken to the operating room for exploratory laparotomy. She was found to have a large posterior duodenal ulcer that had eroded into the gastroduodenal artery, causing a brisk arterial bleed. The artery was ligated and the ulcer oversewn to successfully control bleeding. She had an estimated blood loss of 1750ml. After surgery, her hemodynamics stabilized. She was kept NPO, started on total parenteral nutrition, continued on a pantoprazole drip and she had no further episodes of bleeding. She was transitioned to twice daily pantoprazole 1 week after her duodenal surgery. Her diet was advanced two weeks later, and she was discharged home with oral omeprazole.

Discussion: In response to this case, we reviewed existing literature and given the association of GI hemorrhage with posterior fossa tumors, we altered our approach by recommending monitoring gastric pH and titrating acid suppression to effect, and avoiding nasoduodenal tubes, aiming for either deeper jejunal feeding or gastric feeding. Increased awareness that children with posterior fossa tumors are at higher risk for Cushing’s ulcer with massive GI hemorrhage may prompt more aggressive acid suppression, closer monitoring, and prompt intervention if any change in vital signs or hemodynamics, as well as early involvement of pediatric surgery.

 

472  ASSESSMENT OF COMMUNITY PEDIATRICIAN'S APPROACH TO A CHILD WITH CELIAC DISEASE

Leina Alrabadi, Anthony Porto, Yale University - Pediatric Gastroenterology, New Haven, CT, USA

Introduction: Celiac disease is an immune mediated enteropathy of the small bowel caused by gluten exposure that is estimated to affect ~1% of the population. With a significant prevalence in communities, it is important for pediatricians to understand the approach to screening and diagnosis. The aim of this study was to determine the evaluation and referral patterns of pediatricians in Connecticut in the management of celiac disease.

Study Results: We conducted a cross-sectional survey among medical providers around New Haven, Connecticut. We used an online Qualtrics survey to assess each individual’s response to screening for celiac disease through serologic testing, referral to pediatric gastroenterologists, and dietary recommendations. A total of 58 pediatricians completed the survey; of these 97% were physicians and 83% have been in practice for greater than 10 years.

Providers were questioned regarding serologic testing for patients younger and older than two years of age In both age groups, 93% of providers checked tissue transglutaminase IgA(TTG IgA) and approximately 85% checked total IgA. 33% and 23% checked tissue transglutaminase IgG in patients younger and older than 2 years of age respectively. Between 10-16% reported ordering deaminated gliadin IgA or IgG testing in both age groups. Other serologic tests were ordered at varying frequencies as well. (Table 1)

Referral to a pediatric gastroenterologist was significant (91%). 25% stated that they would at least most of the time initiate a gluten-free diet prior to the referral. 43% would diagnose celiac disease solely based on serologic testing at least most of the time while 33% would never make the diagnosis based on serologic testing alone.

Discussion: An understanding of appropriate screening and management of celiac disease is important for community pediatricians. Our study showed that a majority of providers screened appropriately based on current ESPGHAN guidelines using total IgA and TTG IgA. However, a significant percentage ordered additional and unnecessary serologic tests as well. Referral to pediatric gastroenterology was frequent. However, approximately 2/3s would at least sometimes base the diagnose of celiac on serologic markers alone and about 1/3 of providers would at least sometimes recommend to initiate a gluten-free diet prior to evaluation by a pediatric gastroenterologist. Though, ESPGHAN guidelines state that an elevated TTG IgA (>10x ULN) with a positive endomysial antibody and genetic markers is sufficient to make the diagnosis of celiac disease without an endoscopy, only 3% of our respondents checked genetic markers.

Future studies will use multiple sites to assess whether these findings are similar in other areas and develop CME and other measures to educate community physicians on the evaluation of patient’s with celiac disease.

 

473  ESCHERICHIA COLI 0157:H7 INFECTION ASSOCIATED WITH PERFORATED APPENDICITIS

Mariana Middelhof, Katherine Ebsworth-Mojica, Prita Mohanty, University of Rochester Medical Center, Golisano Children’s Hospital, Rochester, NY, USA

Escherichia coli O157:H7 causes bloody diarrhea and is commonly linked to hemorrhagic colitis and hemolytic uremic syndrome (HUS). Infection can be asymptomatic, can involve extra intestinal sites and can be fatal. Results of radiologic and colonoscopic examinations can be consistent with a diagnosis of inflammatory bowel disease, ischemic colitis or ileocecitis. We report a previously healthy 13-year-old male patient who presented to the ED with a five-day history of generalized abdominal pain that became more localized to the right lower quadrant (RLQ) with associated nausea, vomiting, and bloody diarrhea. The patient referred fever, contact with creek water (well known to be used for disposal of fecal material of farm animals) and eating an assortment of food during a local town fair two days before the symptoms developed. He denied sick contacts, recent travel, and use of antibiotics. Three days before the ED visit he was evaluated at a peripheral medical center, where he was found to be dehydrated with unremarkable electrolytes and blood cellularity but with a stool culture positive for Escherichia coli 0157:H7. Further evaluation at our ED was positive for diffuse abdominal tenderness most prominent in the RLQ, with localized RLQ rebound tenderness, leukocytosis (WBC 17 Thou/uL), elevated inflammatory markers (hsCRP 10.6 mg/L) and abdominal/pelvis CT scan suggestive of an inflamed dilated appendix with significant surrounding inflammation/fluid. Surgical exploration and pathology results confirmed acute appendicitis with serositis and perforation. This case extends the spectrum of disease caused by E. coli O157:H7 and indicates that appendicitis in children might be triggered by bacterial pathogens. The use of antibiotics in the setting of Escherichia coli O157:H7 infection has been controversial and not recommended, as the use of antibiotics does not prevent progression of the bloody diarrhea and has been associated with possible increased risk of extra-intestinal complications, predominantly HUS. However, the presence of a perforated appendicitis with peritoneal signs warrants antimicrobial therapy and the benefits of treatment outweigh the risks.

 

474  THE FIRST REPORTED PEDIATRIC CASE OF KILLIAN-JAMIESON DIVERTICULUM

Maryam Shambayati, Jeremy Johnson, Sandeep Prabhu, Cameron Mantor, Issam Halabi, University of Oklahoma Health Sciences Cente, Oklahoma City, OK, USA

SB is a two-year-old female who presented to the Gastroenterology Clinic with dysphagia that started with the introduction of solid foods. Mom had to cut solid food into small pieces to avoid choking. She was started on lansoprazole with GERD as the presumptive diagnosis pending an Upper GI. A month later, there was no improvement. Metoclopramide was added to lansoprazole because of vomiting of food up to twenty four hours after ingestion to cover for possible slow gastric emptying. An upper GI showed an esophageal diverticulum. EGD was performed. Esophageal intubation was difficult and required the use of a neonatal scope due to a deviated inlet. An orifice was recognized just below the esophageal inlet. Attempts to introduce the scope into this orifice were unsuccessful. The patient underwent right cervical exploration with resection of an esophageal diverticulum which had food particles inside. Histology of the diverticulum revealed fragments of esophageal tissue with mild chronic inflammatory infiltrates and no evidence of dysplasia or malignancy. Patient is now two months post-op and doing well with no dysphagia.

Esophageal diverticulum is an outpouching of the esophageal wall. Most pediatric cases of esophageal diverticula are secondary to post-operative complications from repair of esophageal atresia or complications of foreign body ingestions. There are three types based on their location in the proximal, middle, or distal esophagus, respectively: pharyngoesophageal diverticulum, tracheal bifurcation diverticulum, and epiphrenic diverticulum. Zenker’s diverticulum is an example of a pharyngoesophageal diverticulum and is found in the posterior zone just above the cricopharyngeal muscle. Patient SB’s proximal esophageal diverticulum is consistent with a Killian-Jamieson diverticulum. This is a pulsion diverticulum that occurs at the antero-lateral wall of the cervical esophagus through a muscular gap below the cricopharyngeus and lateral to the longitudinal muscle of the esophagus. Patients are usually asymptomatic but if food becomes trapped in the enlarging sac, spontaneous regurgitation may occur. This places the patient at risk for aspiration. There have been no reported pediatric cases of Killian-Jamieson diverticulum in the medical literature, making this case the first of its kind. In regards to treatment of Killian-Jamieson diverticulum, diverticulectomy is preferred over endoscopic repair to minimize risk of recurrent laryngeal nerve injury since the diverticulum is close to the entry point of the nerve in the larynx.

 

475  CELIAC DISEASE NOT ALWAYS SO STRAIGHTFORWARD: LESSON FROM A KID

Naire Sansotta, Stefano Guandalini, University of Chicago, Celiac Disease Center, Chicago, IL, USA

C.S. was referred to our Celiac Disease Center at the age of 3 for evaluation of a history of celiac disease, apparently not responding to a gluten-free diet (GFD). She presented initially with recurrent vomiting, diarrhea, weight loss, irritability at the age of 20 months. TTG-IgA were more than 100 U/L and pathology report on her duodenal biopsies showed villous blunting, crypt hyperplasia and increased intraepithelial lymphocytes. Very typical, straight-forward diagnosis of celiac disease! A gluten-free diet was begun then.

She recovered immediately, with clearance of her GI issues, prompt resumption of a normal pace of weight gain, improved personality. Surprisingly however, when her pediatrician checked her serology six months after the diagnosis, TTG-IgA were found to be more than 100U/L. Deamidated gliadin peptides (DGP) IgA and IgG normal.

At the subsequent follow-up after six more months, TTG-IgA were still at that level. Given her persistently elevated serology, she was scoped again one year after GFD (and complete symptomatic response); the pathology was unchanged, still showing villous blunting, crypt hyperplasia and increased intraepithelial lymphocytes.

For that reason, at the age of 41 months (21 months after the diagnosis), she came to our attention.

What did we do? We reviewed with extreme caution her diet for possible contamination of traces of gluten. An unlikely but possible source of contamination was identified (chicken broth) and eliminated. Six months later (27 months after initial diagnosis), and in spite of the strictest GFD, her TTG-IgA were more than 40 times of normal value (UNL) with EMA 16x UNL . Of note, DGP IgA and IgG remained normal.

She was scoped for the third time (not usual for a celiac kid) when she was 52 months old (32 months after diagnosis) but villous blunting, crypt hyperplasia and increased intraepithelial lymphocytes were again present!

Of note, the intraepithelial CD3 positive T-cells were mostly CD8 positive, but CD4 negative. Thus, refractory celiac disease type 2 was ruled out, as it would have required both CD4 and CD8 diffusely negative.

Furthermore, a complete work-up was carried out to rule out liver disease, autoimmune conditions and Crohn’s disease. This included autoantibodies for thyroid, pancreas, as well as LFTs, CRP, ESR, CBC that were all completely and repeatedly normal.

Is she eating gluten? Aside from our firm belief in the family (highly educated and caring), if gluten is ingested why would she be continuing to do so well clinically and with normal DGP? Is her intestinal mucosa affected by other diseases? There have been report of TTG-IgA elevation due to milk protein allergic enteropathy; she is now on a milk protein-free diet, but no changes to her serology are still evident.

Thus, she remains a Rubik’s cube, a very twisty puzzle with a combination of asymptomatic clinical status with wonderful growth but persistent inflamed mucosa, despite strict GFD.

                Fig. 1 Celiac serology on GFD. EMA based on baseline 1:5.

 

476 A NOVEL MTTP GENE MUTATION IN AN INFANT WITH ABETALIPOPROTEINEMIA PRESENTED WITH CHRONIC VOMITING

Pornthep Tanpowpong, Noparat Prachasitthisak, Thipwimol Tim-aroon, Chatmanee Lertudomphonwanit, Suporn Treepongkaruna, Nalinee Chongviriyaphan, Lulin Choubtum, Duangrurdee Wattanasirichaigoon, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Introduction: Children with abetalipoproteinemia (ABL) usually presents with steatorrhea, failure to thrive, and complications from fat-soluble vitamin deficiency. Inheritance pattern and parental blood test for lipid profiles can provide additional clues before performing genetic testing. Herein, we described a 5-month-old infant presented with chronic vomiting and failure to thrive, who was later diagnosed with ABL and found to have a novel deletion in MTTP gene.

Case: The patient was born from consanguineous parents, at term with a birth weight of 3,470 g. At one month of age, the patient started to develop vomiting without changes in bowel movements. The patient’s weight was 3,400 g at 2 months and dropped to 3,030 g at 3 months of age. Upper GI contrast study showed no evidence of gastrointestinal obstruction or malrotation. Medications for gastroesophageal reflux disease were prescribed without clinical improvement. The patient was referred to our hospital at five months of age with weight loss (2,950 g), and marasmic appearance.

Acanthocytosis was found on peripheral blood smear with a normal hemoglobin level. Serum electrolytes, blood urea nitrogen, creatinine, and ammonia were unremarkable. Stool examination showed numerous fat globules. Transminases were slightly elevated (ALT 150 U/L, AST 173 U/L) without hyperbilirubinemia. Vitamin A level was 0.6 mg/L (N, 0.15-0.4 mg/L) and vitamin E level was 2.7 mg/L (N, 1-5 mg/L) while the patient received multivitamins. As a part of nutritional status evaluation, we noticed extremely low plasma cholesterol level. Lipid profiles, apolipoprotein A-1 and B levels of the patient and family members were sent and shown in the Table. The patient was found to have hypocholesterolemia, hypotriglyceridemia, markedly decreased apolipoprotein A-1 and B, while unremarkable lipid profiles except slightly decreased apolipoprotein A-1 in the patient’s mother and paternal grandparents were noted. A diagnosis of autosomal recessive ABL was being considered.

Microsomal triglyceride transfer protein (MTTP) sequencing showed homozygous c.1448_1461del (p.Pro483Glnfs*25). This 14 base pair deletion in exon 11 caused a frameshift mutation leading to a premature stop codon. Heterozygous deletion was found in the patient’s mother. To our knowledge, this is a novel MTTP mutation for ABL. Optimal enteral caloric intake with medium chain triglyceride-enriched formula, long chain triglyceride restriction, and fat-soluble vitamin supplementations were provided. Improvement of weight gain was shown and the clinical signs of marasmus disappeared in three months.

Conclusion: ABL should be considered in an infant presenting with unexplained vomiting and failure to gain weight. Lipid profiles and apolipoprotein levels should be performed in the patient and family members to aid in the diagnosis before performing specific genetic mutation testing.

 

477  CONCURRENT COLLAGENOUS COLITIS AND GASTRITIS IN A 2-YEAR-OLD CHILD: CASE STUDY AND REVIEW OF THE LITERATURE

Maria Heubeck, Rasha Adel Elmaoued, Joshua Anspach Hanson, Kalyan Ray Parashette, University of New Mexico Children's Hospital, Albuquerque, NM, USA

Introduction: Collagenous colitis and gastritis are rare disease entities, particularly in the pediatric population. Both diseases are characterized by a thickened subepithelial collagen layer in the gastric mucosa and colonic mucosa, respectively. Concomitant occurrences of the two diseases have been found to occur in adults and are typically associated with celiac disease. In children, there is no known association with autoimmune diseases. Due to the rarity of both diseases, treatment has been variable with different outcomes. We discuss a pediatric patient with concurrent collagenous colitis and gastritis and review the literature.

Case Description: A two-year-old male presented to the pediatric gastroenterology clinic with a three-month history of watery and occasional bloody diarrhea. He had a history of failure to thrive, which was treated with increased caloric density of his diet. He also had a history of iron deficiency anemia and had been treated with an iron supplement. His exam was grossly normal, including rectal exam. Blood tests showed iron deficiency anemia, elevated ESR and CRP, and low albumin (2.3 g/dl). Stool studies were negative for Salmonella, Shigella, Campylobacter, Helicobacter pylori, Clostridium difficile, Giardia, and Cryptosporidium. Stool studies were positive for lactoferrin, high calprotectin (119 ug/g), and high fecal alpha-1-antitrypsin (1.13 mg/g), consistent with GI tract inflammation and protein losing enteropathy, respectively. An upper endoscopy showed numerous nodules in the gastric mucosa. Colonoscopy demonstrated erythematous mucosa and white exudates in the sigmoid colon and rectum. Biopsies showed markedly thickened collagen deposition consistent with collagenous gastritis and colitis. He was treated with omeprazole 1mg/kg/dose twice a day for 2 months for the collagenous gastritis and budesonide 6mg once a day for 4 weeks for the collagenous colitis. Budesonide was weaned to 3mg once a day for an additional 4 weeks and it was stopped. He had a drastic improvement in stool frequency and consistency within a couple weeks. He had total resolution of symptoms at his three-month follow-up with improved weight gain and iron levels.

Case Discussion: This case demonstrates a rare co-occurrence of collagenous colitis and gastritis in a pediatric patient. In our review of the literature, we found only four other pediatrics cases of concurrent collagenous colitis and gastritis, all of which were treated differently and achieved different results. We have summarized the cases in terms of presentation, histologic findings, and treatment with responses in Table 1. This case represents a unique patient with concurrent disease, who was successfully treated with omeprazole and budesonide. A recent guideline from American Gastroenterological Association Institute also recommends budesonide as a first line of therapy for microscopic colitis.

     Table 1. Summary of concurrent cases of collagenous colitis and gastritis in children reported in the literature including our case.

Study

Gender/Age

Symptoms/Laboratory findings

Histologic Findings

Treatment

Billiemaz, et al

Male/9 months

Severe dehydration, watery diarrhea, and chronic intermittent vomiting

Diffuse atrophic mucosa with an increase in subepithelial collagen tissue in the gastrointestinal tract

No response to prednisolone, budesonide, night enteral nutrition, and gluten-free diet.

 

 

Response to TPN with subsequent discontinuation of steroids.

 

 

Disease free at 14 years old, 2 months after initiation of TPN


 

Study

Gender/Age

Symptoms/Laboratory findings

Histologic Findings

Treatment

Camarero Salces, et al

Female/9 years

Watery diarrhea since 3 months of age.

Gastric nodularity, collagenous colitis, lymphocytic colitis.

Temporary improvement with antibiotics.

 

 

At 9 years of age developed abdominal pain and anemia

Complete resolution with budesonide for 6 months with reappearance of diarrhea one month after discontinuing budesonide.

 

 

 

Unchanged symptoms with mesalazine.

Camarero et al

Female/15 years

Watery diarrhea since 13 months of age.

Gastric mucosa with collagenous gastritis.

No response to loperamide

 

 

Elevated ESR.

Colonoscopy with irregular thickening of subepithelial collagenous band, down growing of fibers, trapping of capillary vessels and degenerative changes in the surface epithelium with moderate plasmacytic infiltrate in lamina priopria

 

 

Associated with hypothyroidism and diabetes mellitus

 

Katzka et al

Male/2 years

Watery stools, weight loss, emesis, and intermittent low-grade fevers

Increased thickening of subepithelial plate in duodenum, stomach, and colon.

Symptom free after 2 weeks of IV steroids and bowel rest.

 

 

Antrum with focal active gastritis and chronic active duodenitis.

Subsequently treated with PPI, mesalamine, and 8 weeks of oral steroids, but relapsed 2 weeks after finishing steroids.

 

 

Colon with acute inflammation with neutrophils, plasma cells, and lymphocytes.

Subsequently treated with bismuth subsalicylate for 4 weeks with resolution of symptoms

Our case

Male/2 years

3 months of watery diarrhea.

Collagenous gastritis with chronic inflammation, colonic mucosa with intraepithelial lymphocytes and markedly increased collagen table

Omeprazole for 2 months and budesonide 6mg for 1 month then tapered to 3mg for additional month.

 

 

Iron deficiency anemia, high ESR. CRP, hypoalbunemia, high fecal alpha 1 antitrypsin, calprotectin and positive lactoferin

Improvement in symptoms at 1-month follow-up and no recurrence of symptoms at 3 months follow-up.

 

478  SENNA OVERDOSE CAUSING METABOLIC ACIDOSIS AND SEVERE DEHYDRATION

Ruben J Colman, Analydia Gutierrez, Luis Rivera, Maria Ramirez, Paulo Pina, St. Barnabas Hospital, Bronx, NY, USA

Background: Stimulant laxatives such as senna and bisacodyl work by stimulating peristalsis and thus can cause abdominal pain and watery diarrhea. However, data to support this in the literature is missing. We present a case of a seven-year-old boy with severe dehydration due to senna overdose.

Case: A seven-year-old boy with autism spectrum disorder and chronic constipation presented to the ED for evaluation of an acute onset of profuse non-bloody watery diarrhea following ingestion of six 15mg chocolate flavored sennoside tablets. This dosage is 4.5 times the maximum recommended amount. On arrival, the patient showed signs of severe dehydration marked by tachycardia, poor perfusion, decreased urine output and altered mental status thus, fluid resuscitation was started. Laboratory assessment demonstrated a non-anion gap metabolic acidosis and mild hyperkalemia. Fluids for maintenance and repletion of losses were continued under monitoring. Acidosis and electrolyte imbalance resolved without further morbidity. The patient was discharged home 36 hours after admission.

Discussion: This case is an illustration of the morbidity associated with a laxative overdose that has only previously been hypothesized. Reports of severe dehydration due to these medications are uncommon in the published literature, however, clinicians should be aware of the potential dangers and counsel patients and families on these possible adverse events.

 

479  BURKITT'S LYMPHOMA PRESENTING AS A GASTRIC ULCER AND PANCREATITIS

Scott M. Bolton, Lee M. Bass, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA

Introduction: Gastric ulcer is a relatively common phenomenon in pediatrics, particularly when associated with Helicobacter pylori infection. However, gastric ulcer associated with Burkitt’s lymphoma in pediatrics is quite rare with only a few cases described. We report a case of Burkitt’s lymphoma presenting as a large gastric ulcer and pancreatitis.

Case Report: Patient is a 13-year-old male who presented to the emergency department with anemia and hematemesis. The patient had a history of recent abdominal pain and 3 days of non bloody emesis. Hemoglobin at presentation was 5.7 g/dl. Other labs significant for a normal WBC count and thrombocytopenia with platelet count of 100.

The patient was taken to the operating room for an emergent upper endoscopy. A large crater-like ulcer was noted in the body of the stomach, along the greater curvature, with heaped up edges surrounding the perimeter of the ulcer. Active oozing was noted from ulcer. The ulcer was treated with a combination of four quadrant 1:10,000 epinephrine injection, hemoclips and bipolar cautery with good hemostasis. Biopsies from the edge of the ulcer demonstrated large Helicobacter-like organisms and the patient was treated with a course of Amoxicillin, Clarithromycin and Omeprazole.

Over the ensuing two months the patient continued to have complaints of abdominal pain and anemia with a hemoglobin of 8.1 g/dl. Repeat endoscopy noted persistence of the large crater-like gastric ulcer. This was again treated with four quadrant 1:10,000 epinephrine injection, hemoclips and Argon plasma coagulation. Biopsies were negative for Helicobacter pylori at this time. The patient was treated with Sucralfate without relief of his abdominal pain. The patient returned to the hospital two weeks later with continued abdominal pain and vomiting. At this time, he was noted to have a lipase of 730. Computed Tomography of the abdomen was performed to evaluate the pancreas. The imaging demonstrated a large soft tissue mass in the upper abdomen, with areas of cystic change/necrosis contiguous with or closely opposed to both the markedly thickened gastric wall and the pancreas. Open biopsy of the mass demonstrated Burkitt’s lymphoma arising from the greater curvature of the stomach. The patient was started on chemotherapy with a good clinical response and remains in remission. Recent endoscopy demonstrates resolution of the ulcer.

Conclusion: This case demonstrates Burkitt’s lymphoma presenting as a large crater-like gastric ulcer. Pancreatitis was likely secondary to external compression of the pancreatic duct from the lymphoma. The stomach is a common site of gastrointestinal non-Hodgkin lymphoma, particularly associated with H. pylori infection. Burkitt’s lymphoma should be considered in any presentation of a crater-like gastric ulcer. This case highlights the importance of abdominal imaging in the setting of a large crater-like gastric ulcer which is persistent without an apparent etiology.

 

480  A RARE CASE OF NEONATAL DIARRHEA: INFANTILE HYALINE FIBROMATOSIS

Steven Fusillo, Judith Kelsen, Elaine Zackai, Kathleen Sullivan, Children's Hospital of Philadelphia, Philadelphia, PA, USA

Background: Patients who present with severe intestinal disease in the first year of life may have underlying genetic defects involving structural and/or immunologic pathways. The increased utilization of whole exome sequencing (WES) has identified more rare and novel variants that are associated with these heterogeneous phenotypes.

Case Presentation: The patient, born at term to consanguineous parents, presented at 12 months of age with persistent watery diarrhea, peripheral edema, joint deformities, severe malnutrition, and intermittent fevers. His physical exam was notable for dysmorphic facial features (synophrys, small upturned nose, and smooth philtrum), gingival hyperplasia, hypertrophic perianal tissue, multiple joint contractures, and severe hypotonia. Laboratories were notable for severe hypoalbuminemia (1.5 g/dL), low immunoglobulins, and elevated stool alpha-1-antitrypsin (>1.13 mg/g). Upper endoscopy and colonoscopy demonstrated edematous, paucicellular lamina propria and glandular atrophy and apoptosis throughout the duodenum and colon. Whole exome sequencing revealed a homozygous p.L45P mutation in the ANTXR2 gene, consistent with a diagnosis of infantile hyaline fibromatosis.

Discussion: Infantile hyaline fibromatosis is a rare autosomal recessive disorder caused by a mutation in the ANTXR2 gene. Its pathogenesis is thought to involve disruption of the basement membrane leading to the accumulation of hyaline within various body tissues, including the gastrointestinal tract. Its clinical presentation closely matches that of our patient, including progressive, painful contractures, thickened skin, gingival hyperplasia, and perianal masses. Protein-losing enteropathy (PLE) is a known feature of the condition and is likely the cause of this patient’s intractable diarrhea, low serum albumin, peripheral edema, and growth failure. While PLE may have also led to his low immunoglobulins, these levels have remained low despite several months of parenteral nutrition and significantly reduced stool output. This finding, together with recurrent fevers and evidence of apoptosis throughout the GI tract, points towards an underlying immunodeficiency. Subsequent immunologic workup has revealed increased immature T cells and low pneumococcal titers, findings that are nonspecific but again raise suspicion for an abnormality in adaptive immunity.

Conclusion: Infantile hyaline fibromatosis is a progressive disease with a poor prognosis; case reports have demonstrated mortality within the first 2 years of life, mostly due to severe malnutrition, diarrhea, and/or recurrent infections. While hypogammaglobulinemia is a known feature of the disease, thought to be related to PLE, this is the first report of possible primary immunodeficiency associated with this defect.

 

481 METASTATIC GASTRIC ADENOCARCINOMA PRESENTING AS SYNCOPE AND DYSPHAGIA IN AN ADOLESCENT FEMALE

Trevor J. Laborda, Julie Len, Peter Gilbreath, University of Texas at Austin Dell Medical School, Austin, TX, USA

Case Report: A 16-year-old girl was admitted after a syncopal event. She had a three-month history of worsening abdominal pain and thoracic back pain. Associated symptoms included poor appetite, weight loss, heartburn, and dysphagia. She reported dysphagia to solids and liquids, with worsening pain when swallowing. She was taking ibuprofen for back pain. Had well-formed, non-bloody stools on a daily basis. Otherwise healthy and was born in the Philippines but has lived most of her life in the U.S. Outpatient X-rays performed were unremarkable. Upper GI study showed reflux, dysmotility, and thickened mucosal folds.

Initial endoscopy showed severe distal esophagitis and mild gastritis, but the study was limited due to the severity of her esophagitis. Limited biopsy samples were obtained, which were all negative for H. pylori. Based on her initial workup she was treated for esophagitis. Follow-up upper endoscopy was performed due to persistent dysphagia despite adequate therapy and showed severe ulcerative distal esophagitis with stricture of the LES and firm appearance to the fundus.

While awaiting results of the biopsies, CT of her chest and abdomen was performed to rule out a perforated esophagus. Images revealed multiple nodules in her lungs and liver. Biopsies from the fundus were consistent with primary gastric adenocarcinoma. Liver biopsy which showed adenocarcinoma with the same phenotype as her fundal biopsy.

Discussion: Primary GAC is rare in pediatrics. Gastrointestinal tumors represent less than 5% of all pediatric malignancies, and of these, less than 0.05% are primary GAC.

Gastric adenocarcinoma can occur within any portion of the stomach, and based on the location may present with symptoms of nausea, vomiting, dysphagia, abdominal pain, distension, anorexia, weight loss, hematemesis, melena. Median age of onset is about 15 years, with the youngest reported case occurring at 21 months. Most cases develop de novo, but some cases have been reported in association with polyposis syndromes, chemoradiotherapy of a gastric lymphoma, vitamin B12 deficiency, and H. pylori gastritis.

Early upper endoscopy with biopsy should be considered in symptomatic children to avoid a possible delay in diagnosis. Although ultrasound and CT scans can help aid in diagnosis, staging and surgical strategy, they are nondiagnostic and can be falsely negative. Early diagnosis is rare and most cases are metastatic at time of diagnosis, however early diagnosis may not confer survival advantage. Despite aggressive intervention, prognosis of GAC in children is poor, with median survival of less than a year.

 

482 AUTOIMMUNE GASTRITIS : A RARE PEDIATRIC DIAGNOSIS

Vrinda Bhardwaj, Harry Cynamon, Nick Shillingford, Tania Mitsinikos, Childrens Hospital Los Angeles, Los Angeles, CA, USA

Background: Autoimmune gastritis is a well-established entity in adults; however it is a rare diagnosis in pediatrics. Current literature describes pediatric autoimmune gastritis in children with unexplained anemia with detectable serum auto-antibodies and characteristic histopathologic findings on gastric biopsies. These patients often have underlying autoimmune disorders, such as such as thyroiditis, diabetes mellitus, and pernicious anemia, which precede the diagnosis of autoimmune gastritis. Additionally, there have been isolated case reports describing adult patients with immunodeficiencies and autoimmune gastritis and its progression to gastric adenocarcinoma. These patients can have serum islet cell antibodies and anti-parietal cell antibodies. The diagnosis is confirmed with gastric biopsies demonstrating a chronic inflammatory response wherein, there is loss of parietal cells with or without metaplasia and enteroenterochromaffin cell hyperplasia. Treatment is targeted at nutrient replacement therapy as well as routine surveillance endoscopy for metaplastic and dysplastic changes, although not well described in the literature.

Purpose: We describe three pediatric patients identified with the “rare” diagnosis of autoimmune gastritis at a single tertiary care academic center identified over a one-year period. Our report highlights the possibility of an uncommon diagnosis in a commonly seen clinical setting of anemia in pediatric population.

Cases: In this case series, we review three cases at our institution of confirmed autoimmune gastritis. Two of the three cases were referred to pediatric gastroenterology for evaluation of iron-deficiency anemia in the context of diabetes mellitus and Addison’s disease and diabetes mellitus and Hashimoto’s thyroiditis. The diagnosis of autoimmune gastritis was confirmed on gastric biopsies and they demonstrated high serum titres of anti-parietal cell antibodies with absence of intrinsic factor antibodies. The patients were treated with oral iron replacement therapy on a long-term basis. Our third patient had no underlying autoimmune disorder and presented with symptomatic anemia, later identified as pernicious anemia and was successfully treated with oral vitamin B12 therapy. Patient had high serum titres of islet cell antibodies and negative anti- parietal cell antibodies. In this case, serial gastric biopsies have demonstrated stable metaplasia without evidence of dysplasia.

Conclusions: While autoimmune gastritis may be a rare finding in pediatrics, pediatric gastroenterologists as well as pathologists need to have a heightened suspicion for this diagnosis in those presenting with anemia and have a history of autoimmune disorders. Further studies are warranted to identify if intrinsic antibody and anti-parietal cell antibody testing can be used as a screening tool for autoimmune gastritis in pediatric autoimmune disorder patients presenting with anemia refractory to medical therapy.

Fig. Autoimmune gastritis. This biopsy from the gastric body shows severe chronic gastritis with a mixed inflammatory infiltrate, oxyntic gland damage and glandular atrophy. The parietal cell mass is markedly reduced. By contrast, the biopsy of the antrum from the same patient, taken at the same time, shows relative sparing (inset). H&E, magnification x200.

Pseudopyloric metaplasia in autoimmune gastritis. Occasional glands have assumed features of gastric pyloric glands (green arrow). Note the mixed inflammatory infiltrate in the background composed of plasma cells (red arrow), lymphocytes and scattered eosinophils (blue arrowhead). H&E, magnification x200

Immunohistochemistry highlights linear hyperplasia of enterochromaffin-like cells. Note the difference in enterochromaffin-like cell number and distribution in a normal control (inset). Chromogranin, x100.

 

 

483  INTRACTABLE DIARRHEA: AUTOIMMUNE ENTEROPATHY AS A CAUSE. PRESENTATION OF A CLINICAL CASE.

Victoria Bustamante1, Fernando Sarmiento1, Juan Manuel Correa1, Diana Victoria Mora Quintero1, Claudia Sanchez1, Clara Plata2, Lina Jaramillo1, 1Universidad Nacional De Columbia - Fundacion Homi, Bogata DC, C/Marca, Colombia, 2Universidad El Bosque, Bogata DC, C/Marca, Colombia

Introduction: Autoimmune enteropathy (AIE) is described at any age, is rare, and is characterized by chronic intractable diarrhea associated with autoimmune diseases. It is an alteration of the regulation of cellular and humoral immunity of the intestine, with direct damage to the epithelium and an increase in CD4 and CD8 lymphocytes and HLA-DR, leading to cytotoxicity and apoptosis, with villous atrophy. The diagnosis is clinical, from histopathological findings, the presence of antibodies (anti-enterocytes and/or goblet cells), and with the exclusion of other pathologies. Objective: To describe the case of a school-age boy initially diagnosed with systemic lupus erythematosus (SLE), with a clinical picture of chronic incoercible diarrhea and nutritional collapse.

Clinical Case: Eight-year-old patient with poor appetite, weight loss, and diarrhea for three months, notable vomiting, distension, and abdominal pain. In the first hospitalization, he presented pericardial effusion, prolonged coagulation times, reduced complement C4, lupus anticoagulant positive, p-ANCAS and ASCAS in low titers, and Coombs test positive. Immunodeficiency studies were negative. Histology reported severe inflammatory compromise in the duodenum with villous atrophy, and alteration of colon architecture. With these antecedents, the diagnosis of SLE was made, with associated diarrhea and treatment with methylprednisolone was initiated with improvement and weight gain. The patient was discharged with chloroquine and prednisolone. In an ambulatory follow-up, chloroquine and the corticosteroids were suspended due to the reappearance of episodes of diarrhea and abdominal pain, along with joint involvement, which required a new hospitalization, mixed nutritional support with parenteral nutrition and an elemental diet. In the duodenum, new biopsies showed, in addition to the villous atrophy and inflammation of the lamina propia, absence of Paneth cells and cryptitis with apoptotic bodies in the base of the crypts. With this opinion, the diagnosis was confirmed, since the tests fulfilled, together with the clinical symptoms, the criteria for autoimmune enteropathy. Cyclophosamide was added to the treatment, yielding a slow evolution towards improvement with reduction of fecal output and increased weight. As an outpatient, the cyclophosamide was replaced with tacrolimus, which he continues to receive with prednisone, showing a favourable evolution.

Discussion: The clinical case that we present complies with the diagnostic criteria for AIE established by Unsworth and Walker-Smith, except for anti-enterocyte autoantibodies, which are not always present and are difficult to detect in our context. Since this disease is rare, the treatment is not standardized and is based on the administration of corticosteroids, cyclophosamide, and tacrolimus. The use of biological therapy has been suggested without significant evidence.

 

484  GLUCOSE-GALACTOSE MALABSORPTION MISDIAGNOSED AS DIABETES INSIPIDUS IN A NURSING INFANT WITH DIARRHEA

Clara Plata1, Fernando Sarmiento2, Stephania Peña3, Olga Rodríguez4, Diana Victoria Mora Quintero2, Claudia Sanchez2, 4, 1Universidad el Bosque, Bogata DC, Cundinamarca, Colombia, 2Universidad Nacional de Colombia - Fundacion Homi, Bogata DC, Cundinamarca, Colombia, 3Universidad El Rosario, Bogata DC, Cundinamarca, Colombia, 4Fundación HOMI Hospital de la Misericordia, Bogata DC, Cundinamarca, Colombia

Introduction: Congenital glucose-galactose malabsorption syndrome (CGGMS) presents with severe osmotic diarrhea in neonatal patients. This rare autosomal recessive disorder is caused by a mutation of the gene that codifies the sodium-dependent glucose cotransporter protein (SGLT1) responsible for the absorption of sodium attached to these two monosaccharides. (SGLT1).

Objective: We report the case of a four-month-old child, whose condition was initially confused and treated as diabetes insipidus.

Clinical case: Healthy, full-term child, weighing 3300 grams at birth, who after 15 days presented high-volume diarrhea, hypernatremia, and hypochloremia with severe dehydration and progressive severe malnutrition. Assuming urine to be responsible for the entire weight of the diaper, and interpreting it as polyuria, desmopressin was administered with no improvement. Initially, breast milk was replaced with lactose-free formula. However, with no reduction in the diarrhea and continued weight loss despite the mixed nutritional supplement with parenteral alimentation and elemental and semi-elemental formulas, he was referred to our hospital. Results: Upon hospitalization at 4 months of age and a weight of 3770 grams, desmopressin was tested again with no reduction of the diarrhea and no change in serum osmolality. As such, diabetes insipidus was ruled out. Chlorine in sweat was normal, and the patient did not present chloride diarrhea. Blood chemistry reported: Na: 168.9 mmol/L, K: 4 mmol/L, glucose: 117 mg/dl. Arterial blood gasses showed: pH: 7.29, HCO3: 17.7 mmol/L. The fecal pH was: 6; urine density: 1015, with a pH of 5. Glycosuria was 50mg/dl. Seeing transient improvement with the parenteral nutrition and the triggering of new diarrhea after reinitiating amino-acid formula, glucose-galactose malabsorption was suspected and a formula free of these disaccharides was administered, leading to the disappearance of the diarrhea, normalization of serum sodium, and progressive weight recovery, confirming the defect in the cotransporter protein. During follow-up care, the patient achieved an appropriate weight for his length with the same formula and complementary feeding, also without lactose or sucrose.

Discussion: Hypernatremia calls requires a study of its origin, and it should be determined whether the diarrhea is osmotic or secretory: if fasting reduces the fecal volume, an osmotic mechanism is confirmed. Hypernatremia in these circumstances and the therapeutic trial are decisive. The management is based on a diet free of mono- and disaccharides, which, after the nursing period, is facilitated with a restricted complementary diet.

 

ENDOSCOPY

 

516  DIEULAFOY'S LESION IN A PATIENT WITH LOEYS DIETZ SYNDROME

Avantika Singh, Camilla Fraga-Lovejoy, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

Introduction: Dieulafoy’s lesion (DL) refers to gastrointestinal (GI) ulcers associated with erosion of a superficial large caliber artery and massive bleeding. It accounts for 0.5% to 14% of upper GI bleeding in adults and is extremely rare in children. It occurs mostly over the lesser curvature of the stomach. Loeys Dietz Syndrome (LDS) is an autosomal-dominant connective tissue disorder with altered transforming growth factor-β signaling. We report the first case of DL in a patient with LDS.

Case presentation: 16-year-old boy with h/o LDS presented to the emergency department with large episode of hematemesis of bright red blood. Physical exam on arrival revealed mild tachycardia (125), hypotension (81/58), 3/6 systolic murmur, 2+ peripheral pulses and a normal abdominal exam. Lab analysis showed low Hgb/Hct (7.4/23.9), high BUN (24), low total protein (5.3) and albumin (3.3), normal liver enzymes and PTT but slightly elevated PT/ INR (14.3/ 1.3). Patient was admitted for further management. He was made NPO, started on IV pantoprazole and received blood transfusion as needed. Patient had an esophagogastroduodenoscopy(EGD) done which revealed a mixture of coffee ground, bright red and clotted blood with poor visualization of the stomach mucosa. A DL with adherent clot was seen on the lesser curvature of the stomach. No intervention was done due to poor visualization. Patient had another episode of hematemesis and was started on octreotide drip. Repeat EGD with epinephrine injection and bipolar cautery was performed. He continued to have episodes of hematemesis and melena. Another EGD was performed which revealed a DL with oozing blood on the lesser curvature of the stomach. It was treated with epinephrine injection and hemostatic clips with resolution of bleeding. Patient had no further bleeding during the hospital stay with stable Hgb/HCT. Patient was followed up in the pediatric GI clinic and remained asymptomatic 6 months after discharge.

Discussion: DL should be included in the differential diagnosis of GI bleeding in all age groups. DL, also termed “caliber persistent artery”, is a relatively rare, but potentially life-threatening cause of hemorrhage from the GI tract. Stomach is the most common site for Dieulafoy’s lesion (71%). It occurs mostly over the lesser curvature of the stomach. Approximately one-third of lesions are extragastric. 90% of the patients have other associated co-morbidities, most frequently cardiopulmonary dysfunction and chronic renal failure. No specific association with connective tissue disorders has been documented in medical literature. Therapeutic endoscopy (epinephrine injections, bipolar cautery, hemostatic clips) is successful in 90% of the cases. Repeat endoscopic interventions may be needed and are the preferred treatment in re-bleeding. Angiography and embolization is reserved for lower GI tract lesions and failed therapeutic upper GI endoscopy. Surgery may be needed when above interventions have failed.

 

517  THREE YEAR-OLD MALE WITH MULTIPLE DIEULAFOY LESIONS TREATED WITH EPINEPHRINE INJECTIONS VIA THERAPEUTIC ENDOSCOPY

Christina Baldwin1, Michael Wilsey2, 1University of South Florida, Tampa, FL, USA, 2Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA

Introduction: Dieulafoy lesions, vascular anomalies typically found along the gastrointestinal tract, have been viewed as rare and obscure causes of sudden intestinal bleeding, especially in pediatric patients.

Since their discovery in the late 19th century, the reported incidence has increased, due to an increased awareness of and knowledge about their presentation, and due to advanced endoscopic diagnosis and therapy. We present a three-year-old male with acute hematemesis and anemia; the patient underwent diagnostic and therapeutic upper endoscopy for treatment of multiple dieulafoy lesions.

Case report: Our patient, a previously healthy three-year-old male, presented to the emergency department with acute hematemesis with blood clots and acute anemia requiring blood transfusion. Upper Endoscopy (EGD) revealed four isolated Dieulafoy lesions along the lesser curvature of the stomach, which were treated with epinephrine injection. He had a febrile episode within 24 hours of his initial EGD with recurrent hematemesis; however, repeat EGD confirmed successful hemostasis with epinephrine injection, without active bleeding. He had follow-up at 2 weeks and 4 months; EGD 4 months later confirmed resolution of GI bleeding.

Conclusion: The Dieulafoy lesion, although thought to be rare in pediatrics, should be considered when investigating an acute gastro-intestinal bleed. These lesions have been successfully treated endoscopically. Appropriate anticipation and preparation for diagnosis and therapy can lead to optimal outcomes for the pediatric patient.

 

518  COLLAGENOUS GASTRITIS: A RARE CAUSE OF SEVERE IRON DEFICIENCY ANEMIA IN A PEDIATRIC PATIENT

Garrett Koon1, Ryan Halas1, Patrick Jones2, 1Western Michigan University, Homer Stryker MD School of Medicine, Kalamazoo, MI, USA, 2Bronson Children’s Hospital, Division of Pediatric Gastroenterology, Kalamazoo, MI, USA

A previously well 15-year-old male presents with a four-month history of pallor, exertional palpitations, shortness of breath and headaches. This otherwise well young man had no obvious bleeding, petechiae, hematochezia, melena, hematuria, hematemesis, or hemoptysis. There was no prior history of bleeding disorder and had not been diagnosed with anemia on prior examination. He takes no medications. Family history was unremarkable and specifically, no bleeding disorders were noted. Housing is sufficient without concern for a social contribution to his symptoms. He eats a regular diet with seemingly sufficient consumption of dietary iron. Physical exam yielded stable vitals within normal limits, generalized pallor, decreased sensation of the tongue, anterior cervical lymphadenopathy, and a normal abdominal exam. Laboratory evaluation uncovered the following: a severe microcytic anemia with normal platelets, low ferritin, low iron, elevated total iron binding capacity, and an iron saturation of 1%. Peripheral smear showed microcytic anemia, anisocytosis, and poikilocytosis. Stool was hemoccult positive and H. pylori negative. Serology evaluation for celiac disease was negative. Due to the hemoccult positivity in the setting of severe microcytic anemia, endoscopy was indicated. Colonoscopy was normal, including biopsy, though a single worm was observed in the proximal colon. Esophagogastroduodenoscopy showed a friable mucosa with prominent nodularity, edema and grossly digested blood. Collagenous gastritis (CG) was confirmed via histologic examination of gastric biopsies. CG is an extremely rare disorder characterized by subepithelial deposition of collagen in the stomach. In our case, it is the root cause of the profound iron deficient anemia our patient was experiencing. Treatment is limited to symptomatic management due to the lack of pathophysiologic knowledge of CG, though multiple modalities were attempted without success. Severe iron deficiency anemia, even when caused by this difficult to treat disease, itself is highly manageable. Ultimately, we must remember to consider a gastrointestinal etiology as a part our differential diagnosis in the presence of anemia, easily screened with hemoccult testing.

 

519  CHRONOLOGIC PROGRESS TOWARD LYMPHOCYTIC GASTRITIS IN A CHILD WITH RECURRENT HELICOBACTER PYLORI INFECTION

Jong Myeon Hong1, Yong Joo Kim2, Ki Seok Jang2, 1College of Medicine, Chungbuk National University, Cheongju, Chungbuk, South Korea, 2College of Medicine, Hanyang University, Seoul, Seoul, Korea

Lymphocytic gastritis (LG) is a rare form of chronic gastritis with dense intraepithelial lymphocytes (IEL) more than 25 lymphocytes per 100 epithelial cells. Helicobacter pylori (HP) infection is one of the major causes of LG, but its clinico-pathologic aspect of LG have not been definitely proved in Korea in spite of high prevalence of HP infection. A 17-year-old Korean child with recently aggravating epigastric pain was diagnosed varioiliform gastritis in the corpus on gastric endoscopy. The pathologic finding was HP-positive LG with a large number of IEL. She had been already diagnosed HP-associated nodular gastritis seven years ago, and was treated completely, but was lost to follow-up thereafter. At that time the gastric biopsy showed moderate infiltration of lymphocytes and plasma cells in lamina propria with no intraepithelial lesion.

It is not known when she was contracted HP again during the last seven years. But we recognized that endoscopic and pathologic findings of HP-associated gastric pathology can progress to even more severe form many years after even in a child patient.

 

520 DIAGNOSING THE TODDLER WITH DYSPHAGIA TO SOLIDS: RIGHT ON THE MONEY!

Francis S. Kim, Jyoti Ramakrishna, Andrew Scott, Floating Hospital for Children at Tufts Med Ctr, Boston, MA, USA

Introduction: Feeding issues especially with textured foods are often seen in infants and toddlers recently introduced to solid foods. Learning to chew and swallow is a developmental milestone. Case: HPI: SP is a former full term 17-month-old boy referred to Pediatric GI clinic by his PCP for vomiting. He was having 4 - 5 episodes weekly of non-bloody non-bilious emesis after gagging on solids or textured foods. Parents reported he had never been able to eat solid foods but could swallow liquids and pureed foods. His diet consisted of whole milk and pureed foods. Bowel movements were normal. He did not have any medical or surgical history, with good growth, development and weight gain. He was on no medications and had no allergies. Family history was noncontributory. Exam: notable for weight for length 97th %ile, otherwise unremarkable.

Labs: normal CBC with differential, TTG IgA, IgA and IgE; radioallergosorbent (RAST) testing positive for milk at Class 2. Imaging: Scout film prior to upper GI (UGI) series revealed a metallic, coin-like, esophageal foreign body (FB) at the thoracic inlet. Treatment: Since the FB had possibly been present for ~9 months, and due to location, Pediatric Otolaryngology was consulted for removal under Anesthesia with Pediatric Cardiothoracic Surgery on alert, due to concern for esophageal and aortic integrity. The FB was found to be an oxidized, yeast-covered penny in the proximal esophagus with lateral, non-obstructing, non-circumferential granulation tissue. At the time of removal, the aorta was observed to be pulsating against the face but not edge of the coin, and there was no damage to the anterior esophageal lining. He was maintained on proton pump inhibitor. UGI 8 weeks after surgery revealed little narrowing at the site, and no delayed barium transit or proximal dilatation. Subsequent upper endoscopy with biopsy did not reveal esophageal narrowing or mucosal lesions concerning for eosinophilic esophagitis (EoE). Despite lack of anatomic abnormalities or esophagitis, he continued to have difficulty with solids. He was referred for Feeding therapy.

Discussion: FB ingestion is common in the pediatric population, coins being the most common. The upper esophagus is the most common location for FB's to be lodged and dysphagia is often a presenting symptom. Data suggest FB unexpectedly found on chest film or present more than 24 hours are more likely to have esophageal ulceration with risks of esophageal perforation and bleeding. Given this patient's chronic dysphagia only to solids, the initial differential included anatomic abnormality versus esophagitis (reflux or EoE). The surprise finding of the FB highlights FB ingestion as an important differential for dysphagia to solids in the infant to toddler age. Given that the dysphagia persisted after removal and mucosal healing, this case also highlights the significance of timing on the development of chewing and swallowing skills in this population.

 

521 IMPACTED ESOPHAGEAL FOREIGN BODY DELIVERED THROUGH STOMACH

Kamran Sadiq, Huma Faiz, Arif Mateen Khan, Aga Khan University, Karachi, Sindh, Pakistan

A 9 year-old autistic girl, presented to us with complain of vomiting for the last one year. According to the child’s mother, she was alright about a year back when she developed non-bilious vomiting which progressed over time. Simultaneously, child also developed dysphagia to solid food and when she presented to us, she was tolerating liquid diet only. On arrival, X-ray was done which showed a radio-opaque shadow (Disc Battery, Picture 1) in the mid esophagus with lytic changes around its smooth double edged margins. Child was taken to the operation room, where Upper GI endoscopy was performed with both a Pediatric surgeon and pediatric gastroenterologist present in the OR. On flexible upper G.I endoscopy, a disc battery of about 3x3 cm in diameter was noted in the mid esophagus. We tried to grasp it using endoscopic forceps but our initial attempts were unsuccessful as it was impacted in the wall of esophagus with surrounding edema and inflammation, so it was pushed into the stomach cavity and then grasped using Rothnet basket ©. Attempts to remove it were unsuccessful, as it would keep on getting stuck in the mid-esophagus at the initial site of impaction.  Therefore, we decided to proceed with laparotomy while continuing to grasp the FB with basket. The Rothnet basket was taken out through the small incision site, battery removed and then basket and endoscope were withdrawn. The child tolerated the procedure well and remained uneventful after the procedure.

 

522  THE ROLE OF OCTREOTIDE IN PEDIATRIC GASTROINTESTINAL BLEEDING SECONDARY TO ANGIODYSPLASIA IN RIGHT HEART FAILURE

Kanika Puri, Jean P. Molleston, Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA

Background: Angiodysplasias are the most common vascular anomalies of the gastrointestinal tract and are the second most common cause of gastrointestinal (GI) bleeding in adults. They are a relatively uncommon cause of GI bleeding in children and may be seen in right heart failure. Octreotide has been used successfully in adult patients with gastrointestinal bleeding due to angiodysplasias. We present two patients with right heart failure with gastrointestinal bleeding from angiodysplasia that was controlled with octreotide.

Case summaries: A 17-year-old female had pulmonary stenosis, tricuspid atresia, hypoplastic right ventricle status post Fontan as well as protein losing enteropathy. She presented with melena and was found to have low hemoglobin (Hb) of 5.1g/dL. CT angiogram did not reveal any vascular malformation. Upper endoscopy and colonoscopy revealed duodenal vascular ectasia. Capsule endoscopy showed active bleeding throughout the small bowel, especially in terminal ileum. Due to continued gastrointestinal bleeding and significant drop in Hb requiring multiple blood transfusions, she was started on octreotide. She had a good response to octreotide with resolution of bleeding and stabilization of hemoglobin. She received octreotide for two years without any further episodes of bleeding and her hemoglobin remained stable.

A 14-year-old with hypoplastic left heart syndrome which was repaired by Fontan and Norwood procedures presented with hematochezia and anemia with Hb of 8.7 g/dL. Upper endoscopy with flexible sigmoidoscopy, Meckel’s scan and capsule endoscopy failed to show any source of bleeding. Colonoscopy identified multiple hemorrhagic and erythematous lesions in cecum and terminal ileum. Histology was consistent with vascular ectasias. He was started on octreotide therapy due to continued hematochezia. The bloody stools resolved and his hemoglobin stabilized. He stayed on octreotide for two years with stable hemoglobin and without recurrence of gastrointestinal bleeding.

Discussion: Angiodysplasias in right heart failure are thought to develop secondary to chronic low-grade intermittent obstruction of submucosal veins. These lesions are associated with congestive heart disease. Potential therapies include pharmacotherapy (somatostatin analogs like octreotide or hormonal) or endoscopic argon plasma coagulation. Octreotide possibly works by inhibition of gastrin, pepsin, and acid secretion, decrease in the duodenal and splanchnic blood flow, enhancement of platelet aggregation, increase in vascular resistance, and inhibition of angiogenesis. Due to lack of evidence, its use in the pediatric population is limited. Based on the successful outcomes in these two patients, a trial of octreotide might be considered in pediatric patients who present with gastrointestinal bleeding secondary to angiodysplasia.

 

523  WATERMELON STOMACH SECONDARY TO GRANULOMATOSIS WITH POLYANGIITIS

Keren Dallalzadeh1, Alice Hoftman2, Rishma Chand3, Saied Dallalzadeh3, 1Steven and Alexandra Cohen Children’s Medical Center, New Hyde Park, NY, USA, 2University of California – Los Angeles, Mattel Children’s Hospital, Los Angeles, CA, USA, 3Northridge Hospital Medical Center, Northridge, CA, USA

We are reporting a case of an eight-year-old female who presented with a four-month history of progressively worsening weight loss, fatigue, blurry vision, chronic cough, intermittent abdominal pain, and painless fresh rectal bleeding. She was also noted to have scleral hyperemia, a large buccal mucosal ulcer, polyarthritis, and palpable purpura on her lower extremities. She had a history of uncomplicated craniosynostosis surgery and no family history of autoimmune or kidney disorders.

Significant physical exam findings included mild abdominal distension and diffuse tenderness, scattered petechiae and painful purpuric and ecchymotic lesions on her shins, swelling of right ankle and dorsal foot without notable effusion; and motion tenderness of wrists, ankles, knees and hips. Ophthalmologic exam was notable for hypervascular sclera, uveitis, and normal optic discs.

She was noted to have a WBC of 12.3 K/µL, HgB 9.7 g/dL, BUN 16 mg/dL, creatinine 0.4 mg/dL, elevated ESR of 46 mm/hr and CRP of 0.96 mg/L, and 1+ proteinuria. Antibody profile showed p-ANCA negative, c-ANCA positive (1:640), PR3 >800 U, RF positive, ANA positive (1:160), C3 12.3 mg/dL, C4 30 mg/dL, and high B cell count of 992 /uL. She had a normal pulmonary function test and echocardiogram. Bone survey showed periarticular osteopenia and arthritis of the feet and mild sclerosis of S1 joints. CT of sinuses and chest were normal without evidence of interstitial lung disease. MRA/MRV of abdomen was normal without medium/large vessel involvement. Renal biopsy showed 28% glomeruli with crescents consistent with pauci-immune crescentic glomerulonephritis, without tubulointerstitial involvement.

Upper endoscopy showed engorged, longitudinal, twisted superficial vessels extending from the gastric antrum to the base of the fundus, with scattered fine submucosal bleeding consistent with “watermelon stomach,” or gastric antral vascular ectasia (GAVE). No active intra-luminal bleeding was noted and the esophagus and duodenum were endoscopically normal. Colonoscopy showed several small ring-like lesions with irregular borders in the descending colon, rectosigmoid, and anal verge with no active bleeding. Histopathology was consistent with mild chronic gastritis and mild active recto-sigmoid colitis.

GAVE is recognized as a cause of upper gastrointestinal blood loss in the adult population, classically in elderly women, and accounts for up to 4% of nonvariceal causes. GAVE often occurs in relation to chronic illness such as hepatic cirrhosis, chronic renal failure, and autoimmune connective tissue diseases. Our patient’s final diagnosis was GAVE secondary to granulomatosis with polyangiitis (GPA), resulting in angiodysplasia and vasculitic changes involving the stomach and colon, an association that has rarely been described in the pediatric literature. She had a favorable response to pulse dose corticosteroid and rituximab treatment.

 

524  SAFETY AND INTERMEDIATE TERM SUCCESS OF ENDOSCOPIC BALLOON DILATATION FOR ACQUIRED PYLORIC STRICTURE IN CHILDHOOD.

Kim Liss, Sakil Kulkarni, Elizabeth Utterson, Cara Dickinson, Washington University, St. Louis Children's Hospital, Saint Louis, MO, USA

Gastric outlet obstruction due to acquired pyloric strictures has been described in children, most commonly from Asia in association with caustic ingestion. The most common modality of treatment for this condition described in literature is pyloroplasty, with endoscopic dilatation been described only in minority of cases with modest success.

We describe two previously healthy children aged 2 and 9 years, who presented with acute onset of non-bilious emesis. There was no history of caustic ingestion. Upper gastrointestinal contrast study revealed presence of gastric outlet obstruction in both cases. Endoscopy revealed narrowing and presence of ulcers in the pyloric channel. Each of the patients underwent two sessions of serial dilatations with the help of wire guided through the scope balloon dilator (TTS)one month apart, up to maximum pyloric diameters of 20-mm for the 2- year-old child and 15-mm for the 9-year-old child. Both patients tolerated the procedure well. Neither of the patients developed dumping syndrome. Each of these patients required one additional TTS dilatation following these initial dilatations due to recurrence of symptoms. These repeat procedures were performed at 6 months after the last dilatation for the 2 year-old child and 24 months after the last dilatation for the 9 year-old child. The endoscopy did not reveal recurrent stricture or ulcerations. The pyloric channel was further dilated with TTS balloon dilator to a maximum pyloric diameter of 20 mm in both cases during these procedures. Both patients are currently asymptomatic at 9 (for the 2 year-old child) and 12 months (for the 9-year-old child) after the repeat procedure.

Even though the exact etiology of pyloric stricture in our patients remains unclear, this report enlightens clinicians regarding the safety and success of endoscopic dilatation for this rare but serious condition. This conservative approach was preferred over surgery by the families of both patients. Hence, we conclude that after appropriate patient selection, and in the presence of experienced personnel, endoscopic balloon dilatation should be the initial therapy for children with an acquired pyloric stricture.

 

525  DECEIVED BY A RADIOPAQUE REMEDY: CASE REPORT OF A FOREIGN BODY INGESTION

Matthew Heisel1, 2, Catherine Chao1,3, Suchi Hourigan1,3, Peter Lee1,3, 1National Capital Consortium, 2Walter Reed National Military Medical Center, Bethesda, MD, USA, 3Pediatric Specialists of Virginia, Fairfax, VA, USA

Introduction: The following describes a case of a patient that was urgently taken for esophagogastroduodenoscopy (EGD) for removal of presumed ingested magnets after presentation to an emergency department with abdominal pain, nausea, vomiting and fever.

Case Description: A 14-year-old boy presented to the ED with 6 hours of diffuse abdominal pain, nausea, 5-6 episodes of non-bloody emesis, fever and chills. The abdominal pain was described as aching, located diffusely over the abdomen, with waxing and waning severity. He reported a single episode of non-bloody loose stool. He had a sore throat 2 days ago that has since resolved. He denied any sick contacts or recent travel.

On physical exam he had a temp of 100.8 F (38.2 C), pulse of 97, blood pressure of 121/68, respiratory rate of 18, O2 sat of 97%. His exam was normal with the exception of mild diffuse abdominal tenderness to deep palpation, as well as localization of tenderness to the superior umbilical area, with mild crepitus. There was no distention, guarding, or rebound tenderness.

A 2-view abdominal X ray showed 2 adjacent metal discs, possibly magnets, in the stomach. The patient denied ingestion of magnets or other metallic objects. Based on clinical signs and symptoms, he was urgently taken to the endoscopy suite for EGD with foreign body removal, with concern for magnets trapping mucosa that could potentially cause bowel or stomach perforation.

Upon inspection with EGD, the patient was found to have two stacked pink tablets sitting in the gastric body. The tablets were broken apart with a rat-toothed forceps and reimaging demonstrated the fragmented radiopaque foreign bodies in the stomach. Upon inquiry after the EGD, the patient’s mother remembered that she gave her son 2 Pepto-Bismol tablets (Proctor and Gamble, USA) 4 hours prior to the X ray.

Discussion: Ingested magnets present a serious health hazard for children with a high risk for perforation, necessitating urgent EGD or surgery for removal. The radiopacity of medications has been established(1), including medications that contain bismuth, such as Pepto-Bismol (Proctor and Gamble, USA)(2). Bismuth is a metal (atomic number 83) similar in density to lead (atomic number 82). The positioning of the stacked tablets on X ray replicated joined magnets, which resulted in an emergency endoscopy. This case demonstrates the need for medication review of any bismuth-containing tablets, commonly taken for stomach discomfort in children, to assess a foreign body in the GI tract when determining the need for urgent endoscopy or surgery.

Bibliography: 1. DL Savitt, HH Hawkins, JR Roberts. The radiopacity of ingested medications. Ann Emerg Med 1987;16(3):331-9.;

2. Haferbecker D, Phillipi CA. Case 2: What is that in your bowel? Paediatr Child Health 2008;13(3):197-200.

 

526  ECTOPIC GASTRIC MUCOSA AND A PERSISTENT DRY COUGH

Karen B. Zur, Joseph Piccione, Petar Mamula, Matthew J. Ryan, The Children's Hospital of Philadelphia, Philadelphia, PA, USA

A 16-year-old male with a history of disabling dry cough associated with frequent viral and bacterial ear, sinus, lung, and throat infections for the past seven years was referred to our multidisciplinary Aerodigestive center. His symptoms progressed and he was hospitalized for persistent cough two years prior to this evaluation, which led his parent’s decision to transition him to home schooling. His past workup included Lyme and celiac serologies, ESR, cANCA, cystic fibrosis testing, paranasal and chest CT, H. pylori testing, esophagogastroduodenoscopy (EGD), bronchoscopy and bronchoalveolar lavage (BAL). He was evaluated by specialists in infectious diseases, pulmonary medicine, gastroenterology, psychiatry and several otolaryngologists. His symptoms did not improve after four years of proton pump inhibitor therapy. He had been on numerous neuroleptic and anxiolytic drugs for presumed post-viral vagal neuropathy and anxiety without substantial improvement. Approximately 18 months prior to evaluation in our center, he began monthly Botox injections into his larynx (bilateral thyroarytenoid muscles), which resulted in a modest improvement in cough. Side effects included breathy voice quality.

On exam, he was noted to be overweight with a blunted affect and breathy voice with intermittent dry honking cough. An office-based laryngoscopy revealed cobblestoning of the hypopharynx and bilateral vocal fold immobility (a consequence of laryngeal Botox injections). To better evaluate for gastrointestinal pathology and reassess his upper and lower airways, repeat EGD, esophageal impedance probe monitoring, rigid and flexible bronchoscopy with bronchoalveolar lavage were performed. Additional diagnostic testing included laboratory studies for immune function (normal) and nasal nitric oxide testing, which was inconsistent with primary ciliary dyskinesia. The rigid/flexible bronchoscopic exams were negative for laryngeal cleft, tracheoesophageal fistula, tracheomalacia and bronchitis. The EGD revealed a 1 x 2 cm hyperemic patch located approximately 3 cm distal to the upper esophageal inlet. Biopsies of this patch identified ectopic gastric mucosa, while those of the distal esophagus revealed chronic inflammation. The impedance probe showed continuous acid exposure lasting 88 minutes in the distal esophagus and pathologic gastroesophageal reflux. The study was performed off acid blockade. Two weeks later he underwent ablation of the esophageal inlet patch utilizing the argon plasma coagulation. He tolerated the procedure well and his symptoms resolved within the first post-operative day. He resumed a full oral diet on post-operative day 2. Two weeks following the procedure, he was able to exercise, began weaning off neuropsychiatric medications and his voice normalized. This case report demonstrates the multifactorial issues involved in the assessment of chronic cough and the importance of addressing a pathology that may appear innocuous.

 

527  A RETAINED FOREIGN BODY AS A PRESENTING SYMPTOMS OF A DUODENAL WEB

Nadia Ibrahimi, Sarah Edwards, Valentina Shakhnovich, Children's Mercy Hospital, Kansas City, MO, USA

10-year-old female with abdominal pain, reflux and vomiting presented with non-bilious non-bloody nocturnal emesis. X-ray revealed foreign body (FB) in the stomach, which subsequently passed into the small intestine, without need for endoscopic removal. Vomiting resolved and she was lost to follow-up. Three years later, she presented to urgent care for back pain. A retained FB in the right upper quadrant was identified on spinal X-ray. Follow-up CT abdomen showed distention of proximal duodenum, with abrupt caliber change at the junction of the second and third part of the duodenum, suggestive of duodenal web. Two FBs were seen proximal to the caliber change.

EGD revealed retained food in the stomach, 2 FBs in the duodenal bulb, and a duodenal web with a central opening and an erosion at the site of FBs. FBs were removed and she was referred to surgery for laproscopic duodenoduodenostomy.

Duodenal webs are rare defects (1 in 10,000-40,000) in embryologic development and usually present as gastric outlet obstruction in infancy or early childhood. Phenotypes vary: complete duodenal atresia or imperforate webs vs. intraluminal imperforate webs (wind sock webs) vs. perforated webs with either central or eccentric aperatures. The fenestrated type may present in late childhood or rarely, in adulthood. Most common presentation is vomiting and failure to thrive. Less common presentations include food refusal, bloating and frequent hiccups. In older patients, duodenal webs can present with nausea, vomiting, abdominal pain, weight loss, recurrent pancreatitis and gastrointestinal bleeding. To our knowledge, a FB in the upper GI tract, as seen in our patient, has never been reported as a presenting symptom of a duodenal web.

Surgery, in the form of excision and duodenoplasty or bypass procedures (i.e., duodeno-duodenostomy and duodeno-jejunostomy) are conventional treatment modalities, as early reports suggested that endoscopic resection could damage the amuplla. However, more recent experience demonstrates successful endoscopic management via endoscopic dilatation or endoscopic membranotomy with laser, sphicterotome, high-frequency-wave snare/cutter, hot biopsy forceps, insulated-tip diathermic knife or needle knife. Advantages of endoscopic management include procedural feasibility, safety, decreased cost, shorter hospital stay, aesthetics and minimal risk for intraabdominal adhesions. Known risks associated with endoscopic web management include risk of perforation, excessive bleeding, stricture formation and trauma to the ampulla.

In conclusion, duodenal webs can present later in childhood with reflux symptoms and FB retention. Chronic foreign bodies in the stomach or the proximal small bowel should raise the concern for a duodenal obstruction, including congenital duodenal webs. Most recent literature suggests that endoscopic management can be a safe and effective treatment method.

 

528  ISOLATED COLONIC VARIX CAUSING RECURRENT GASTROINTESTINAL BLEEDING

Sara Naramore1, Sandeep K. Gupta1, Raghu L. Motaganahalli2, 1Riley Hospital for Children, Indianapolis, IN, USA, 2Indiana University, Indianapolis, IN, USA

Colonic varices are dilated submucosal veins which are a rare cause of intestinal bleeding in children with an incidence of 0.07%. The varices commonly are due to portal hypertension but may be idiopathic. They typically develop in the cecum and left colon but can be present in any part of the colon. Bleeding occurs from passing hard stool or stretching of weakened vessel walls. Diagnosis is made by colonoscopy and selective mesenteric angiography. Treatment is not well-defined and depends on the patient’s age, clinical status, and degree of hemorrhage. A subtotal colectomy can be curative.

We report a four-year-old male with oculocutaneous albinism who presented with intermittent hematochezia for six months. The episodes reportedly occurred every three weeks and lasted three days. He complained of fatigue but denied fever, nausea, vomiting, abdominal pain, diarrhea, and constipation. He denied foreign travel, receiving NSAIDs, or trauma. His physical examination showed tachycardia, normal blood pressure, strong pulses, albinism, bilateral nystagmus, and a soft abdomen without tenderness, distension, or hepatosplenomegaly. There were no anal fissures. Laboratory data revealed a hemoglobin 8.8 gm/dL which was a decrease of 2 gm/dL over the prior month. He had microcytic, iron-deficiency anemia and a positive stool guaiac test. Over the next twelve hours, his hemoglobin decreased to 7.4 gm/dL, and he received a packed red blood cell (PRBC) transfusion. He did not have thrombocytopenia, coagulopathy, hypoalbuminemia, or elevated inflammatory markers.

Extensive evaluation was performed to determine the source of the intestinal bleeding. A Meckel scan was negative, and an abdominal CT angiography did not show vascular abnormalities. Visceral angiography demonstrated patent celiac, superior mesenteric, and inferior mesenteric arteries. Esophagogastroduodenoscopy was normal. Colonoscopy revealed a large, dilated, tortuous vessel in the ascending and proximal transverse colon suggestive of an isolated colonic varix (Figure 1).

Six months later, the hematochezia recurred. A Tc-99m-labeled red blood cell scan revealed extravasation around the hepatic flexure. A repeat colonoscopy showed a varix from the hepatic flexure to the rectum but did not identify an actively bleeding source (Figure 2). He did not have portal hypertension on Doppler ultrasound. The bleeding resolved after receiving octreotide, and he was discharged home pending further intervention(s).

Our case presents a diagnostic and therapeutic dilemma, as he is one of the youngest patients reported in literature with a colonic varix.

Possible management options in the future include:

1.             Capsule endoscopy to evaluate small bowel mucosa

2.             Endoscopic sclerotherapy or clip placement over the spider angiectasia

3.             Argon plasma coagulation of varix but with inherent risk of bleeding or perforation

4.             Exploratory laparotomy with bowel resection, or

5.             Conservative therapy with octreotide and PRBC transfusions

Figure 1: First colonoscopy demonstrating varix in transverse colon

Figure 2: Second colonoscopy with varix in A) hepatic flexure and B) sigmoid colon

 

 

 

 

 

 

529  CAP POLYPOSIS MASQUERADING AS INFLAMMATORY BOWEL DISEASE IN A CHILD

Suruchi Batra1, Suchitra Hourigan2, Jasbir Johal1, Peter Lee2, 1INOVA Children's Hospital, Falls Church, VA, USA, 2Pediatric Specialists of Virginia, Fairfax, VA, USA

Case: A 16-year-old male presented with rectal bleeding and symptoms of constipation. He was initially treated with a laxative bowel regimen for presumed constipation, but rectal bleeding continued. Four months after initial presentation, colonoscopy was completed and was significant for proctitis; the rest of the colonoscopy was entirely normal. Ulcerative Colitis (UC) was diagnosed and treatment with mesalamine was started. Symptoms persisted despite treatment and addition of oral steroids to his regimen. Labs, including complete blood count and inflammatory markers, were monitored and remained normal. Due to continued rectal bleeding, repeat colonoscopy was performed and was notable for persistent proctitis and development of a large firm rectal polyp. Pathology was consistent with an inflammatory polyp and attributed to patient’s underlying UC. Patient underwent polypectomy and continued mesalamine, which led to resolution of all symptoms. Four months later, repeat surveillance sigmoidoscopy revealed ulcerations of the colonic mucosa and 2 small sessile polypoid lesions. On further review of serial biopsy samples, a diagnosis of Cap Polyposis was made.

Discussion: Cap Polyposis is a rare intestinal disease that often presents similarly to inflammatory bowel disease. It was first described by Williams et al in 1985. The median age of diagnosis is 52 years of age and is very rare in children; hence, this diagnosis may be missed and/or delayed in the pediatric population. Common symptoms include abdominal pain, rectal bleeding, and diarrhea. Diarrhea may be excessive, leading to significant protein loss with or without hypoalbuminemia and edema. Polyps are small, red, sessile and/or semi-pedunculated and are often 2 cm or less in size. The number of polyps present at time of diagnosis varies. Histologically, polyps have ulceration and hyperplastic, elongated crypts. Polyp apices are covered by a thick layer of fibrinopurulent exudates. Standard treatment is not established, but polypectomy and steroid treatment have been shown to be effective in some cases. Though rare, Cap Polyposis should be considered in the differential of children presenting with rectal bleeding. Further research is needed to standardize diagnosis and treatment options.

 

530  TRANS-ENDOSCOPIC BALLOON DILATATION OF DUODENAL STRICTURE IN PAEDIATRIC CROHN'S DISEASE: AN ALTERNATIVE TO STRICTUROPLASTY AND SURGICAL RESECTION

Shishu Sharma, Mike Thomson, Arun Urs, Sheffield Children's NHS Foundation Trust, Sheffield, South Yorkshire, UK

Introduction: Approximately one third of Crohn’s disease (CD) cases develop a stricture within 10 years of diagnosis. [1] Endoscopic balloon dilatation (EBD) is being widely used for dilatation of oesophageal and intestinal strictures in IBD. [2] However, there are no case reports or series published about the use of EBD for duodenal stricture in paediatric CD and the evidence is limited to adult literature only. [3-4] A case of 12-year-old boy with CD with duodenal stricture managed effectively with EBD is presented here.

Case: A 12-year-old boy first presenting at 11 years of age with seven months history of abdominal pain, vomiting and diarrhoea. The initial endoscopy showed mild thickening of duodenum and terminal ileum (TI) which corroborated with histological findings of ulceration and acute inflammation with villous architectural distortion in the duodenum and TI. A diagnosis of CD was made and child commenced on appropriate treatment. The MRI was not suggestive of any stricture. Unfortunately the child had significant behavioural issues leading to poor compliance. A reassessment endoscopy after 8 months continued to show thickening in duodenum and ulcers in TI but the histopathology showed acute duodenitis only. Regular Infliximab was commenced but the child continued to be symptomatic with diarrhoea and abdominal pain, hence a second reassessment along with wireless capsule endoscopy was planned after 13 months of diagnosis which showed significant stricture in first part of duodenum. The histopathology showed total villous blunting and chronic inflammation in duodenum. Surprisingly vomiting was not the prominent symptom. The child was commenced on Adalimumab at this stage. However, within a month of reassessment the child started having significant vomiting and hence was booked for EBD of the duodenum. The child showed significant symptomatic improvement with resolution of vomiting and demonstrated weight gain. The duodenum was reassessed with repeat endoscopy after 6 weeks and demonstrated adequate calibre. (Figures)

Conclusion: To our knowledge this is the first ever reported case of EBD of the duodenum in paediatric Crohn’s disease, where more invasive options of surgical resection or stricturoplasty have been avoided.

References: 1. Louis E, Collard A et al. Behaviour of Crohn’s disease according to the Vienna classification: changing pattern over the course of the disease. Gut. 2001;49:777-782; 2. Hassan C, Zullo A et al. Systematic review: Endoscopic dilatation in Crohn’s disease. Aliment Pharmacol Ther. 2007;26:1457-1464; 3. Endo K, Takahashi S et al. Short and long-term outcomes of endoscopic balloon dilatation for Crohn’s disease strictures. World J Gastroenterol. 2013;19:86-91; 4. Stienecker K, Gleichmann D et al. Long-term results of endoscopic balloon dilatation of lower gastrointestinal tract strictures in Crohn’s disease: a prospective study. World J Gastroenterol. 2009;15:2623-2627.

 

531  CROHN'S DISEASE DUODENAL STRICTURE: MITOMYCIN AND ENDOSCOPIC BALLOON DILATION

Shishu Sharma, Mike Thomson, Arun Urs, Sheffield Children's NHS Foundation Trust, Sheffield, South Yorkshire, UK

Introduction: Approximately one third of Crohn’s disease (CD) cases develop a stricture within 10 years of diagnosis. [1] Endoscopic balloon dilatation (EBD) is being widely used for dilatation of oesophageal and intestinal strictures in IBD. [2] However, there are no case reports or series published about the use of EBD for duodenal stricture in paediatric CD and the evidence is limited to adult literature only. [3-4] A case of 12-year-old boy with CD with duodenal stricture managed effectively with EBD is presented here.

Case: A 12-year-old boy first presenting at 11 years of age with seven months history of abdominal pain, vomiting and diarrhoea. The initial endoscopy showed mild thickening of duodenum and terminal ileum (TI) with histological findings of ulceration and acute inflammation with villous architectural distortion in the duodenum and TI. A diagnosis of CD was made and the patient was commenced on appropriate treatment. The MRI was not suggestive of any stricture. Poor compliance was an issue. A reassessment endoscopy after eight months continued to show thickening in duodenum and ulcers in TI but the histopathology showed acute duodenitis only. Regular Infliximab was commenced but diarrhoea and abdominal pain persisted. Further endoscopy one year later revealed a 2mm diameter stricture in the first part of the duodenum. Adalimumab was started, however vomiting quickly ensued. Duodenal EBD was then undertaken to 10mm under radiological control. This resulted in immediate symptom resolution with consequent weight gain. Mitomycin C anti-fibrotic (0.5mg/ml) was applied topically post-dilation via the endoscope. The duodenum was reassessed with repeat endoscopy after six weeks and demonstrated a 10-12mm calibre. (Figures)

Conclusion: To our knowledge this is the first ever reported case of EBD of the duodenum in paediatric Crohn’s disease including the application of topical Mitomycin C and hence avoidance of more invasive options of surgical resection or stricturoplasty was made possible.

References: 1. Louis E, Collard A et al. Behaviour of Crohn’s disease according to the Vienna classification: changing pattern over the course of the disease. Gut. 2001;49:777-782; 2. Hassan C, Zullo A et al. Systematic review: Endoscopic dilatation in Crohn’s disease. Aliment Pharmacol Ther. 2007;26:1457-1464; 3. Endo K, Takahashi S et al. Short and long-term outcomes of endoscopic balloon dilatation for Crohn’s disease strictures. World J Gastroenterol. 2013;19:86-91; 4. Stienecker K, Gleichmann D et al. Long-term results of endoscopic balloon dilatation of lower gastrointestinal tract strictures in Crohn’s disease: a prospective study. World J Gastroenterol. 2009;15:2623-2627.

 

532  ELEVATED LEAD LEVELS CAUSED BY LEAD FOREIGN BODY NECESSITATING ENDOSCOPIC REMOVAL

Tina Morhardt, Grace Lee, University of Michigan, Ann Arbor, MI, USA

A 16-year-old female with global developmental delay, non-verbal status, unspecified mitochondrial disorder, and epilepsy was admitted after suspected ingestion of a lead ball bearing. The patient initially was found to be gagging and drooling while seated at a gun-show. Family described finding ball bearings, made of 95% lead, in her lap. She later had difficulty with oral feeds at which time they sought medical attention. Upon evaluation, she was at baseline neurological status and hemodynamically stable. On abdominal xray, there was a radiopaque foreign body measuring 1.9 cm and found likely at the ileocecal junction or ascending colon. She was started on a bowel regimen with Golytely. After receiving 20 hours of Golytely, her repeat abdominal xray showed no change in foreign body position. During this time, her lead levels and hemoglobins were checked serially. Lead level upon admission was 13 mcg/dL which rose to 17 mcg/dL (normal 0-10 mcg/dL) over three days. Her complete blood counts remained stable. Given the lack of efficacy with the Golytely bowel regimen and inability to maintain nasogastric tube placement and to tolerate positional changes to encourage movement of the foreign body, endoscopic removal was favored. Her colonoscopy revealed a foreign body at the cecum consistent with the lead ball bearing described by the family and removal was accomplished with a Roth net. She had an unremarkable post-procedure course.

Conclusion: This case demonstrates the need to evaluate for lead toxicity in lead-containing foreign body ingestions. There are case reports of retained foreign bodies such as gun shot or bullet fragments causing lead poisoning (1). Alternatively, this has been described with acute ingestions of large quantities of lead containing foreign bodies (2). It is not clear what quantity of lead ingested can cause toxicity therefore, it is suggested that lead levels should be checked routinely for most foreign body ingestions, regardless of whether known to contain lead (3, 4). Finally, in consideration of this patient’s limitations and inability to accurately report symptoms, colonoscopy should be considered quickly in order to retrieve foreign body to avoid further lead toxicity.

References: 1. Coon, T., Miller, M., Shirazi, F., Sullivan, J. Lead toxicity in a 14-year-old-female with retained bullet fragments. Pediatrics. 2006. 117; 227-30; 2. McKinney, P. Acute elevation of blood lead levels within hours of ingestion of large quantities of lead shot. J. Toxicol Clin Toxicol. 2000. 38; 435-40; 3. Mahaffey, K. Relation between quantities of lead ingested and health effects of lead in humans. Pediatrics. 1977. 59; 448-55.; 4. Wiley, J., Henretig, F., Selbst, S. Blood lead levels in children with foreign bodies. Pediatrics. 1992. 89; 593-6. 

 

533  PICA MASQUERADING AS INFLAMMATORY BOWEL DISEASE

Voytek Slowik, Thomas Attard, Jennifer Colombo, Joel Lim, Children's Mercy Hospitals and Clinics, Kansas City, MO, USA

Pica is an eating disorder characterized by the repeated ingestion of nonfood substances that is developmentally and socio-culturally inappropriate. The true prevalence of Pica is not known but it is considered to be a predisposing risk factor for gastrointestinal bezoars. Herein, we will discuss a patient with Pica presenting clinically with symptoms and laboratory findings indistinguishable from inflammatory bowel disease. The child is an 11-year-old Caucasian female who presented to our clinic with chronic abdominal pain, weight loss, nausea, vomiting, and fatigue. The clinical exam included a BMI at 13.3 (Z score -2.6). Laboratory findings included low albumin, elevated lipase, leukocytosis, elevated inflammatory markers (C-reactive protein 1.0 mg/dL and erythrocyte sedimentation rate of 31 mm/hr), and anemia (hemoglobin 9.7 gm/dL). An outside computed tomography which showed nonspecific findings was reviewed. The child was therefore referred for esophagogastroduodonoscopy and colonoscopy for further evaluation and management. Upon intubation of the esophagus, she was noted to have moderate –severe esophagitis. In the stomach she was noted to have a large bezoar with fibrous connections through the pylorus and into the duodenum where the bezoar included string and was partially embedded into the peri-ampullary mucosa in the duodenum and beyond. The connections were cut with endo- scissors and the duodenal bezoar was able to be removed endoscopically piecemeal with gentle traction. The large gastric bezoar could not be removed from the stomach via endoscope despite multiple endoscopic maneuvers . The subjoined mucosa appeared inflamed and both gastritis and duodenitis was grossly evident and biopsied. The colonoscopy showed normal mucosa including the terminal ileum but there was visualization of multiple foreign bodies throughout the colon. After endoscopy, with more detailed inquiry, a latent history of Pica was disclosed. Coordinated care with repeat endoscopy and surgical backup was organized and the bezoar was removed via laparoscopic gastrotomy. The bezoar was noted to be 4 cm in diameter and made up of multiple different materials. Endoscopic biopsies from the esophagus, antrum, duodenum, terminal ileum, and colon were essentially normal except for focal necrosis and acute inflammation of the gastric mucosa. After removal, the patient reported rapid symptom improvement and normalization of erythrocyte sedimentation rate from 31 mm/hr to 8 mm/hr was documented by two weeks post operatively. She is currently doing well and her care is coordinated with a behavioral psychologist. This patient illustrates the possibility of large gastrointestinal bezoars presenting with a clinical complex indistinguishable from pediatric Inflammatory Bowel Disease. The authors believe this underscores a need for a detailed presenting history including Pica in such scenarios.

 

GLOBAL HEALTH

 

554  A PHYSICIAN'S NIGHTMARE: FEVER OF UNKNOWN ORIGIN

Sana Din, Mirza Beg, SUNY Upstate Medical University, Syracuse, NY, USA

Fever of unknown origin (FUO) remains to be a challenge despite advancement in diagnostic technologies and procedures. FUO is considered when fever presents intermittently without an explanation. It has been linked to various etiologies, which makes it difficult to diagnose. We present the case of 18-month-old female with recurrent fever, splenomegaly, abdominal pain and constipation. The workup for her symptoms revealed wandering spleen. Wandering spleen is a result from excessive laxity or absence of splenic ligaments. The patient underwent splenectomy and was advised to continue on Senna, Miralax and high fiber diet. Her mother reported that the fever are no longer present and marked improvement in her constipation and abdominal pain post splenectomy.

 

HEPATOLOGY

 

570  NEW DEFECT IN GOLGI COMPLEX HOMEOSTASIS PRESENTING AS UNCONJUGATED HYPERBILIRUBINEMIA

Cristina Gonçalves, Maria Inês Barreto, Sandra Ferreira, Susana Nobre, Patricia Cardoso, Carla Pinto, Luisa Diogo,

Isabel Gonçalves, Coimbra University and Hospital Centre, Coimbra, Portugal

Background: Congenital Disorders of Glycosylation (CDG) is an expanding group of monogenic diseases affecting the complex processes of protein and lipid glycosylation, with a highly heterogeneous clinical spectrum. A CDG patient of a new subtype with a defect in CCDC115 (coiled-coil domain containing 115) leading to Golgi homeostasis deficiency is presented.

Case report: Infant female, the firstborn in 2014 from nonconsanguineous parents. She presented with persistent neonatal unconjugated hyperbilirubinemia (≤ 200µM), despite phototherapy. Cranial ultrasound revealed lenticulostriate vasculopathy. At five months, jaundice persisted; failure to thrive,hepatosplenomegaly, collateral circulation and poor muscle mass were noticed. Neurodevelopment and cardiac exam were normal. Extensive investigation was done: unconjugated bilirrubin (180/29,4µmol/L), anemia (Hb 9.1g/dl, 5% reticulocytes), abnormal coagulation (INR 1.35), aminotransferases (AST/ALT 453/85UI/L), ALP 1031UI/L (bone-derived 87,5%), AFP 106700UI/ml, GGT 92UI/L, cholesterol 9.88mM. Transferrin IEF revealed a type 2 pattern. Bone marrow smear showed dyserythropoiesis. Subsequently, she developed progressive cholestatic liver disease (max. bilirubin: 707.6 µmol/L, 35% conjugated) and liver failure (max. INR 2.83). Liver hystology disclosed severe cholestatic hepatitis with complete septal fibrosis and cirrhosis. Liver transplantatio (LT) was not attempted due to rapid deterioration with multiorgan failure and encephalopathy. She died at the age of seven months. A large deletion and a mutation (c.92T>C;p.Leu31Ser) in heterozigosity were detected in the CCDC115 gene.

Discussion: CCDC115 plays a yet poorly defined role in Golgi homeostasis. Mutations in the gene were recently identified in other 7 patients with type 2 CDG. All displayed a storage disease-like phenotype, elevated cholesterol and aminotransferases and disproportionally high ALP, with diverse prognosis. Prognosis was diverse, with another death and one successful LT. Persistent unconjugated hyperbilirrubinemia with fatal liver failure were the major features in our patient, expanding disease phenotype.

 

571  GASTROINTESTINAL POLYPOID LESIONS ASSOCIATED WITH CAVERNOUS TRANSFORMATION OF THE PORTAL VEIN

Dania Molla Hosseini1,2,3, Kelley Capocelli1,3, Edward J. Hoffenberg1,2,3, Ronald J. Sokol1,2,3, 1University of Colorado School of Medicine, Aurora, CO, USA, 2Digestive Health Institute, Aurora, CO, USA, 3Children’s Hospital Colorado, Aurora, CO, USA

Aim: To report and describe the endoscopic entity characterized by gastrointestinal polypoid lesions associated with pediatric cavernous transformation of the portal vein (CTPV) and portal hypertension (PHT).

Methods: A case series is reported of three patients with CTPV who underwent endoscopic evaluation for gastrointestinal bleeding and PHT and were found to have gastric and/or small intestinal polyps. The demographic information of these patients, their clinical presentation, endoscopic features, and histopathological characteristics are described.

Results: Three children, two Caucasian males and one African American female, are reported who had CTPV (portal vein thrombosis) and had originally presented with upper gastrointestinal bleeding. Gastric and duodenal polyps were found incidentally at ages 3 to 12 years during endoscopic surveillance for treatment of their known esophageal varices. All three patients had splenomegaly and thrombocytopenia and characteristic findings of CTPV on ultrasonography or CT scan of their hepatic porta. The number of polyps visualized ranged from 2 to 10 which persisted and did not increase in number on repeat endoscopic evaluations performed over an average of 5 years. Endoscopically, the polyps ranged from 2 mm to 1.5 cm in diameter, either sessile or mildly pedunculated, had a vascular appearance but were not friable or actively bleeding. The histology of the polyps varied from inflammatory to hamartomatous polyps, with prominent vasculature. There were no adenomatous changes or malignant transformation in these polyps over a mean of 5 years of follow-up. Genetic studies conducted on one of the patients were negative for mutations in Smad4, associated with Hereditary Hemorrhagic Telangiectasia and Juvenile Polyposis Syndrome (JPS), as well as BMPR1a, also associated with JPS.

Conclusion: Portal hypertension-associated gastric or small intestinal polypoid lesions have rarely been reported in children, and there are a limited number of reports in adults with cirrhosis and PHT. This is the first reported case series of children with gastrointestinal polypoid lesions associated with CTPV. These findings raise the question of whether PHT or portal vein thrombosis leads to angiogenic or proliferative changes in the gastric and duodenal mucosa or if there might be a genetic predisposition to the development of polyps uncovered when PHT is superimposed.

 

572 TRANSIENT DUCTOPENIA OF MULTIFACTORAL ORIGIN IN PRETERM NEWBORN INFANT WITH NEONATAL CHOLESTASIS: CASE REPORT

Juan Correa, Fernando Sarmiento, Lina Jaramillo, Edna Quintero, Diana Victoria Mora Quintero, Claudia Sanchez, Universidad Nacional de Columbia - Fundacion Homi Hospital de la Misericordia, Bogata DC, C/Marca, Colombia

Introduction: A permanent or transient reduction of intrahepatic bile ducts leads to cholestasis. This condition is a result of imbalance between the destruction and regeneration of the bile ducts, the former being mediated by processes of apoptosis triggered by BAX-2 and BCL-2 proteins. Neonatal cholestasis occurs in 1/2500 newborns and ductopenia arises as one of the histological changes identified in the differential diagnosis. Objective: We present a case of a progressive recovery from cholestasis with ductopenia as demonstrated histologically with progressive recovery and without identifying the underlying etiology while ruling out the possibility of Alagille Syndrome.

Case: Preterm newborn infant born at 30 weeks of gestation, with age corrected to 62 days. The infant was born by C-section with immediate neonatal resuscitation, weighing 900 grams, and required respiratory support for 12 days in NICU for respiratory problems caused by hyaline membrane disease (HMD). The patient received treatment with surfactants, transfusions, antibiotics and nutritional support consisting of parenteral nutrition, maternal milk and formula for preterm neonates. Once the diagnosis of cholestatic syndrome of multifactorial origin was made, the comorbidities were managed and the jaundice slowly subsided for the following 6 months and was concomitant with the reduction of conjugated hyperbilirubinemia until it became normalized.

Results: Rapidly progressive conjugated hyperbilirubinemia of 4.5 mg/dL up to a total of 13.2 mg/dL; the liver ultrasound was normal; the gallbladder scan was negative for the passage of the tracer through the duodenum, but the intraoperative cholangiography confirmed a gallbladder and bile duct free of filling defects and with adequate passage of the contrast dye through the intestine. The liver biopsy results were normal. Histology revealed hypoplasia of the bile duct without fibrosis and with no inflammatory component. The echocardiogram and X-ray of the column were normal. Due to recovery and stabilization of the hyperbilirubinemia the patient was released, and in subsequent outpatient monitoring an adequate weight gain was observed, the bilirubin level was progressively normalized and the jaundice disappeared, respectively.

Discussion: Bile duct injury can be caused by an increase in oxidative stress, the liberation of inflammatory mediators and sepsis, which activate proteins such as CD95, Perforin and TNF-alpha; it can also be caused by liver immaturity and vascular injuries that irrigate the portal triads with consequent hypoxia. As such, it is not always part of syndromic and non-syndromic ductopenias and can result in resolution or normalization. Faced with the impossibility of determining an etiology, a so-called transient ductopenia must be considered.

 

573 TB PERITONITIS: CHALLENGES IN DIAGNOSIS AND MANAGEMENT

Hala Abdullatif, Hanaa El-Karaksy, Faculty of Medicine, Cairo University, Giza, Egypt

Abdominal tuberculosis (TB) is an uncommon presentation of TB especially in children. TB of the gastrointestinal tract, peritoneum, mesentery, abdominal lymph nodes, liver, spleen, and pancreas; all are different forms of abdominal TB. We herein report on a nine-year-old patient who presented with fever of two months duration with anorexia, fatigue, weight loss, progressive abdominal distention and ascites. He was diagnosed as TB peritonitis based upon ascitic fluid analysis, quantiferon results and response to antituberculous treatment. Drug induced liver injury (DILI) in the form of cholestatic hepatitis developed 10 days after the start of the four drug antituberculous regimen (Isoniazid, rifampicin, streptomycin and pyrazinamide). According to the American Thoracic society recommendations, all hepatotoxic antituberculous drugs (Isoniazid, rifampicin and pyrazinamide) were stopped and replaced by ethambutol and quinolones till the transaminases level decreased to less than two fold. Gradual introduction of antituberculous drugs, one by one, was initiated. Normalization of liver functions with no recurrence of hepatotoxicity was achieved.

Conclusion: TB is still encountered in developing countries, early diagnosis and immediate initiation of treatment is necessitated. Liver function tests should be closely monitored for the possibility of DILI.

 

574 NEONATAL EDEMA AND THE GENETIC DIAGNOSIS OF DEHYDRATED HEREDITARY STOMATOCYTOSIS

Jennifer Halma, Ryan Fischer, Children's Mercy Hospitals and Clinics, Kansas City, MO, USA

Dehydrated Hereditary Stomatocytosis (DHS) is a rare autosomal dominant hemolytic anemia characterized by a red blood cell membrane defect. In DHS, the erythrocyte membrane has an altered permeability to monovalent cations. This membranopathy leads to an osmotic water loss and dehydrated red blood cells which have increased rigidity, making them more susceptible to mechanical stress and hemolysis. The degree of anemia associated with DHS is variable, ranging from no evidence of hemolysis to a mild compensated anemia. As a result of this variability, patients with DHS are often not diagnosed until adulthood when they can present with chronic anemia, recurrent jaundice, thrombosis following splenectomy, or significant iron overload with hepatosiderosis.

DHS can also be associated with a pleiotropic syndrome of perinatal edema and pseudohyperkalemia. The severity of perinatal edema is variable, but can cause in-utero fetal demise. This trio of findings is associated with mutations in the PIEZO1 gene, which is mapped to 16q23-24 and is expressed in the liver, bone marrow, and lymphatic vessels. The correlation between this mutation and the associated clinical findings remains largely unclear, but recognition that each finding may be the only clinical indication of the syndrome can lead to a prompt diagnosis.

We present the case of a newborn male with ascites that was diagnosed on prenatal ultrasound. Our patient was born at 32 weeks via c-section for refractory congenital ascites and fetal distress. He had had multiple fetal paracentesis and as a newborn he required paracentesis bi-weekly with eventual placement of a peritoneal drain. In evaluation of his refractory ascites he had an extensive laboratory and imaging evaluation, including abdominal ultrasound, CT scan, and lymphangiogram, but none revealed an etiology.

At two weeks of age he developed a direct hyperbilirubinemia and elevated transaminases. The development of cholestatic liver disease in addition to his recurrent ascites prompted a work-up including a liver biopsy which resembled biliary atresia with bile duct plugging. A cholangiogram was subsequently completed which showed a patent extrahepatic biliary system. As biliary atresia had been ruled out, but he continued to have persistent jaundice and hepatitis, genetic studies were obtained, including a targeted gene scan (TaGScan) which analyzes 514 genes that cause severe pediatric diseases.

 After three months in the NICU, a myriad of laboratory and imaging studies, and multiple procedures, the TaGScan diagnosed a PIEZO1 gene mutation, consistent with Dehydrated Hereditary Stomatocytosis and the previously discussed association of neonatal edema and DHS. This report highlights the utility of genetic testing when evaluating neonatal ascites and hepatitis as early testing could be diagnostic, preventing further extensive and invasive testing.

 

575 SCLEROSING CHOLANGITIS SECONDARY TO HEPATOBILIARY TUBERCULOSIS

John Paul Oliveros1, Germana Gregorio2, Jose Maria Avila3, 1University of the Philippines-Philippine General Hospital, Cagayan de Oro City, Misamis Oriental, Philippines, 2University of the Philippines-Philippine General Hospital, San Juan, National Capital Region, Philippines, 3University of the Philippines-Philippine General Hospital, Manila, National Capital Region, Philippines

Rationale: Tuberculosis is a rare cause of sclerosing cholangitis in children.

Objective: to report two pediatric cases of sclerosing cholangitis secondary to tuberculosis, an infant and an adolescent, both presenting with jaundice.

Methods: Design: Case Series Setting: Tertiary Hospital.

Subjects and Methods: Medical records of patients admitted January to December 2013 diagnosed with sclerosing cholangitis secondary to tuberculosis were reviewed.

Main Outcome Measure: Clinical and diagnostic profiles of patients with sclerosing cholangitis secondary to tuberculosis

Result: Two patient were included in this study. The first case is an infant presenting with jaundice and acholic stools at three months old, initially diagnosed to have biliary atresia. The second case is an adolescent presenting with acute onset of jaundice, fever, right upper quadrant tenderness and hepatosplenomegaly, initially diagnosed with ascending cholangitis. Liver function tests were non-specific. Markedly elevated gamma glutamyl transpeptidases gave clue to possible bile duct involvement in both cases. Ultrasound showed bile duct strictures and calcification in the first case. Magnetic resonance cholangiopancreatography of the first case and intraoperative cholangiogram of the adolescent patient showed multiple and complex strictures, resembling sclerosing cholangitis. Liver biopsy confirmed tuberculosis in both patients, showing Langhan’s giant cell in the portal tracts with caseating granuloma. Biopsy specimen of first case was polymerase chain reaction positive for M. tuberculosis. The infant had persistent jaundice, hepatomegaly and ascites even after 12 months anti-tuberculosis medications. Liver transplant was advised. Hepatobiliary surgery with T-tube drain was initially performed on the adolescent patient. The negative microbiological examination of the bile fluid together with the marked clinical improvement of the patient suggests adequate treatment. However, persistent proximal bile duct obstruction secondary to inflammatory strictures would require endoscopic stenting or bilioenteric anastomosis.

Conclusion: Sclerosing cholangitis secondary to hepatobiliary tuberculosis should be a differential diagnosis in pediatric patients presenting with jaundice and hepatosplenomegaly.  Keywords: Sclerosing Cholangitis, Tuberculosis, Children

Table 1: Case summary

 

Case 1

Case2

Age of Onset of Symptoms

2 days old

12 years old

TB exposure

Positive (grandfather)

Not known

Presenting Symptoms

Jaundice, Hepatosplenomegaly, Acholic stools, Severe stunting

Jaundice, Hepatosplenomegaly, Abdominal pain, Fever

Initial Impression

Biliary Atresia

Choldechal cyst with ascending cholangitis

Total Bilirubin (direct bilirubin)

8.1 mg/dl (4.2 mg/dl)

9.2 mg/dl (5.6 mg/dl)

Alanine Transaminase

277 IU/L

85 IU/L

INR

1.02

>10

Albumin

35 g/L

24 g/L

Alkaline Phosphatase

Not done

1,121 IU/L

Gamma Glutamyltransferase

1,389 IU/L

278 IU/L

Ultrasound

Hepatosplenomegaly

Coarsened liver parenchyma

Beaded biliary tree appearance

Right lobe calcifications

Hepatosplenomegaly

Normal liver parenchyma

Dilated intrahepatic and common bile ducts

Dilated gallbladder

Cholangiogram

MRCP

Multifocal biliary strictures and ectasia

Cirrhosis with beginning portal hypertension

Irregular contour and Narrowing of Intrahepatic branches of both hepatic ducts

Dilatations in the common hepatic and left hepatic duct

Medical Treatment

12 months quadruple anti-Tb (HRZE)

6 months quadruple anti-Tb (HRZE)

Outcome

Decompensated Liver Disease

For liver transplant

Biliary Surgery with T-Tube drain done

Clinical Improvement; residual common bile duct granuloma

For resection of the common bile duct granuloma

 

576  THE IMPACT OF MOLECULAR ADSORBENT RECIRCULATING SYSTEM (MARS) THERAPY ON DRUG REACTION WITH EOSINOPHILIA AND SYSTEMIC SYMPTOMS (DRESS) RELATED ACUTE LIVER FAILURE

Shreena S Patel, Doug S Fishman, Ayse Arikan, Andrea Cruz, John Goss, Christine O'Mahony, Baylor College of Medicine; Texas Children's Hospital, Houston, TX, USA

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) occurs 1 in every 1,000-10,000 drug exposures. 80% of patients will have liver involvement. Mortality is 10-20%, with liver failure as the leading cause of death.

Case Presentation: three-year-old female with a history of hereditary spherocytosis (post splenectomy), undergoing treatment for pan-susceptible tuberculosis (TB) infection of a cervical lymph node (LN). She was admitted with fever, progressive and diffuse morbilliform rash and impending respiratory failure. Three months prior to admission, she was started on isoniazid for a positive tuberculin skin test (PPD), and later pyrazinamide, ethambutol and rifampin were added after LN biopsy confirmed TB. Her admission laboratory values included: WBC count 25,000/mm3, platelet count 712,000/L, 11% eosinophilia, AST 1461 U/L and ALT 932 U/L, GGT 187 U/L, conjugated bilirubin (CB) 1.3 mg/dL, albumin 2.7 g/dL, INR 2.7, and ammonia 56 UMOL/L. She had normal serological markers for autoimmune hepatitis, infectious hepatitis A, B, and C and a normal alpha-1-antitrypsin level. Testing for CMV, EBV, HHV-6, Parvovirus and Adenovirus by PCR was also negative. Her fever, hypereosinophilia, hepatitis, and rash were consistent with DRESS, secondary to anti-TB medications, as her symptoms erupted five weeks after the start of quadruple TB therapy. She received intravenous methylprednisolone starting hospital day 2, but had progressive multi-organ failure despite steroid therapy and cessation of all anti- TB medications. She was intubated for respiratory failure, with a chest radiograph demonstrating interstitial lung involvement, and diagnosed with DRESS related acute liver failure with coagulopathy, elevated ammonia, and jaundice. She received five cycles of total plasma exchange (hospital day 2-6) and continuous renal replacement therapy (CRRT). Molecular adsorbent recirculating system (MARS) was started on hospital day 3. She was listed for liver transplant during MARS therapy, status 1A. MARS and CRRT were continued until hospital day 6 and 8, respectively. Peak labs included: WBC count 60,000/mm3, AST 2381 U/L, ALT 1395 U/L, GGT 187 U/L, CB 3.2 mg/dL, and INR 4.8. With gradual clinical improvement as evidenced by good urine output, stable ammonia and INR, patient was taken off of all extra-corporeal support on hospital day 8 and a steroid taper was initiated. With marked improvement in her liver indices and mental status, by hospital day 18, she was inactivated on the transplant list and transitioned to inpatient rehabilitation prior to discharge home. Her most recent labs are notable for: AST 27 U/L, ALT 61 U/L, GGT 109 U/L, CB 0.0 mg/dL, and INR 1.0.

Discussion: DRESS typically leads to acute liver injury, but can also precipitate liver failure. In these patients, though liver transplant may be needed, MARS therapy can be a life-saving alternative or bridge as the transplant and post-operative course are likely to be complicated.

 

577  IDIOPATHIC ARTHRITIS IN CHILDREN WITH END-STAGE LIVER DISEASE AWAITING LIVER TRANSPLANTATION

S V Karthik, Elizabeth Y Ang, S H Quak, M M Aw, National University Hospital, Singapore, Singapore

Introduction: Symmetric arthritis, mainly involving small joints, has been described in adults with chronic liver disease. It is thought to be immune mediated, possibly triggered by B-cell dependent mechanisms. Similar problems have not been described in children. We describe 3 children with severe cholestatic end-stage liver disease (ESLD), who developed seronegative, symmetric and non-erosive polyarthritis affecting large joints.

Method: Illustrative case-note review

Reports: Patient 1: A three-year-old boy with biliary atresia (BA)-associated ESLD awaiting Liver Transplantation (LT), presented with acute onset pain and swelling involving knees and ankles on both sides, fever and refusal to bear weight. Physical examination revealed bilateral active arthritis involving knees, ankles and elbows. ESR and CRP were elevated. Rheumatoid factor (RF), Anti-nuclear antibody (ANA) and HLA-B27 were negative. Synovial fluid analysis revealed predominance of monocytes/macrophages. Intra-articular corticosteroid injections (IACS) resulted in partial relief only. He successfully underwent LT and his arthritis improved rapidly with complete resolution over the next 6 months. He remains well 15 months post-LT.

Patient 2: A six-year-old boy with Alagille syndrome-associated ESLD presented with bilateral painless swelling of knees with inability to straighten them. Although weight bearing was possible, the child walked with difficulty. Examination revealed arthritis involving both knees with flexion contractures. ESR was elevated. ANA and RF were both negative. Ultrasound revealed bilateral joint effusions with active synovitis. Synovial fluid aspirates were scanty. He was managed with serial IACS but his symptoms persisted. Plans were made for Etanercept therapy but the child moved overseas.

Patient 3: A nine-year-old girl awaiting repeat liver transplantation, on account of chronic graft rejection after her first LT for BA, presented with bilateral knee joint swelling and pain. Examination revealed bilateral knee effusions with preservation of full range of movements. ESR was elevated, RF and ANA were negative. She was conservatively managed with paracetamol. She underwent successful LT within the next few weeks and recovered satisfactorily with no joint-related concerns.

None of the 3 patients had trauma. They could not be managed with NSAIDS or methotrexate at presentation, on account of severe liver disease, and hence IACS were employed in two of these patients. Radiographs revealed non-erosive joint involvement with no periosteal changes.

Conclusions: ESLD associated arthritis has not been described in children and might be related to underlying immune-mechanisms, which could potentially correlate with the severity of ESLD. Complete resolution of arthritis in two children after LT is supportive of this. Persistence of symptoms with elevated inflammatory markers despite IACS, is unlike what would be expected in Juvenile Idiopathic Arthritis (JIA).

 

578 THE EFFICACY OF COMBINATION THERAPY OF INTERFERON (PEG IFN- ?? ,NATURAL IFN ??TYPE) AND HB VACCINE (1 VACCINATION PER ONE MONTH FOR 6 MONTHS ) ON THE PATIENTS WITH HBV CARRIERS AND CHRONIC HEPATITIS B:  OCCURRENCE OF DISAPPEARANCE FOR HBSAG AND HBCAB

Sousuke Terazawa1, Reiko Ito2, 1Syakai Iryou Houzinn Ichinomiya Nisi Hospital, Ichinomiya City, Aiti Prefecture, Japan, 2National Institute of Infant,Child,Adolesant Health Care Therapy Investigation Center, Sedagayaku, Tokyo, Japan

Introduction: Patients with Hepatitis B Virus (HBV) are generally treated with Interferon ƒ¿ for 6 months in children. The efficacy of this trial is about 50% of the patients seroconverted from HBeAg to HBeAb. They have not had liver dysfunctions since their sera marker of HBeAg seroconverted to HBeAb, but they might have liver cancers in the future. The aims of HBV carriers and/or the patients with chronic hepatitis B for the treatment are to get down the titers of HBsAg. HBsAg is vanished about below 1% in a year. Medications of nucleic acid analogue for over 5 years cannot often vanish HbsAg. Other methods of treatment must be considered.

 HBsAg,HBeAg,HbcAg are decoys which suppress the attacks for HBV-DNA. They lead to immunological tolerance. Imunological tolerance are broken out by reducing HBV-DNA, HbsAg, HbeAg, and HBcAg. And Macrophage, T-cell and B-cell do function normally. On the basis of these thoughts, we made the medication protocol for eradication of HBV, as follows Peg interferon ƒ¿ or natural type interferon ƒ¿ for 6 months + HB vaccines (once a month, 6 times). If this method goes well, the titers of HBsAg diminish. Some patients' HBsAg might vanish. Good results may be unexpectedly obtained.

We report the trial:

Patients and methods: The age of the patients ranged from seven years old to 15 years old. Total of the patients were 18 persons. Treatment groups were 10 persons containing 8 males, and 2 females. Control groups were 8 persons containing 6 males, and 2 females. Treatment groups contained patients with 7 Chronic hepatitis B(CHB) (5 males, 2 females) and persons with HBV carriers (3 males). Control groups contained 6 persons with CHB (males), 2 persons with HBV carriers (females). There were proper balances between treatment groups and control groups. All of the cases were followed at least 5 years or more. All of the cases were tested for AST, ALT, LDH, HBV-DNA, HBV related Ag and Ab.

When the patient treated with this method (HBsAg(-)(RPHA or CLIA)) had diminishing HBsAb ,HB vaccines were administered and kept at 30 mIU/ml (CLIA) at least, or at the same level 28 over (PHA).

Result: Treatment groups (10 cases): 6 cases HBsAg and HBcAb vanished (these cases had average GPT†200 IU/l), 2 cases had middle levels of HBsAg titers (24~27), HBcAb (IAHA,23 ~ 27)(these had average levels of GPT 80~200), 2 cases had no effect (these had over ranges of HBsAg, HBcAb 212ª,) ‡A Control groups: after 5 years later on investigations, they had no effect.

Conclusion: Combination therapy of IFN and HB vaccines was effective for active stages of HBV infection. There were some cases in which HBsAg and HBcAb had vanished.

 

579 HANGING NONCALCULOUS GALLBLADDER IN A PEDIATRIC PATIENT WITH EOSINOPHILIC ESOPHAGITIS

Steven D Miller1, Douglas Mogul1, Gia Bradley2, 1Johns Hopkins University, Baltimore, MD, USA, 2Sinai Hospital, Baltimore, MD, USA

Hanging noncalculous gallbladder (HNC) is an uncommon anatomic variant in which a patient has an acalculous, non-inflamed gallbladder that lies in an abnormal position with a long cystic duct. In a case series of adult patients in Greece, HNC was associated with chronic colicky abdominal pain that resolved with cholecystectomy. The condition has never been reported in children.

Case description: An eight-year-old male with a history of OSA, esotropia, craniofacial abnormalities, environmental allergy, and eosinophilic esophagitis presented with a long-standing history of vomiting, constipation, and abdominal pain with eating. Starting one year prior to presentation, the patient was noted to have ALT 112 and AST 82 with otherwise normal liver function tests. Subsequent work-up was negative for autoimmune and infectious hepatitis, and ultrasound of the right upper quadrant was normal. As part of evaluation for ongoing abdominal pain, the patient had repeat endoscopy that showed improvement in esophageal eosinophilia following omeprazole. The abdominal pain and transaminitis persisted, so the patient underwent liver biopsy, which showed non-specific chronic portal inflammation and mild expansion of portal tracts suggesting downstream obstruction. The patient was sent for MRCP that showed markedly elongated gallbladder measuring 10 cm in length and extending down to the level of the iliac crest without evidence of cholecystitis, consistent with HNC. A HIDA scan showed massively enlarged and elongated gallbladder with normal contraction and an ejection fraction of 78% over 60 minutes. Patient subsequently underwent uncomplicated laparoscopic cholecystectomy with demonstration of union of cystic and common bile duct at the critical angle without any apparent signs of volvulus. Pathology of the gallbladder showed chronic cholecystitis without eosinophilia. At a follow-up visit, the patient’s abdominal pain had resolved.

Discussion: Even in patients with documented GI conditions, it is important to draw a broad differential diagnosis when patient’s symptoms do not resolve,or laboratory test abnormalities persist. In this patient with an unusual anatomic gallbladder variant, liver biopsy and imaging helped establish an alternate diagnosis for abdominal pain, and cholecystectomy was curative.

 

580 ADENOMYOMATOSIS OF GALL BLADDER IN A NEWBORN : AN INCIDENTAL FINDING ON ULTRASOUND AT 12 HOURS OF LIFE

Upma Suneja, Sunanda Kandi, Benamanahalli Rajegowda, Lincoln Hospital, New York, NY, USA

Introduction: Jutras and Levesque described adenomyomatosis in 1960 as a pathological condition with hyperplasia of the gall bladder wall due to proliferation of epithelium and thickening of muscular layer resulting in formation of mucosal pouches .Rokitansky described these pouches in 1842 and Aschoff in 1905, currently they are known as Rokintansky –Aschoff sinuses. Although relatively common in adults, adenomyomatosis of gall bladder is a rare entity in pediatric population. Here, we present a case of adenomyomatosis of gall bladder identified by the presence of multiple intramural echogenic foci in gall bladder on abdominal ultrasound at 12 hours of life.

Case: A newborn baby girl born full-term, appropriate for gestational age, by Normal vaginal delivery with APGAR of 9/9 at 1 and 5 minute, was found to have cystic structure in right lower fetal abdomen of uncertain etiology in last trimester prenatal ultrasound. On physical examination at birth, the abdomen was soft with no palpable masses .After birth, the baby was followed closely in the newborn nursery and an abdominal ultrasound was done on Day 1 (12 hours of the life ) that showed normal liver size and contour with a thin walled, ovoid anechoic structure appreciated in the inferior right hepatic lobe, posterior acoustic enhancement and absence of associated vascularity, consistent with large simple hepatic cyst. The gall bladder partially distended with multiple intramural echogenic foci appreciated along the anterior wall, with associated comet tail artifact; suggestive of adenomyomatosis.

The baby continued to feed well, passed urine and meconium in first 24 hours. The baby was discharged home in two days with mother. Bilirubin (total/direct) at the time of discharge was 7.2/0.3. The baby was followed in subsequent well child care visits and demonstrated good growth without any evidence of biliary sludge.

Discussion: Gall bladder diseases remain relatively rare in children, although they are reported with increasing frequency because of the widespread use of ultrasonography (1) .Adenomyomatosis of the gall bladder, a fairly common condition in adults, is a rare entity in pediatrics. The pathogenesis of adenomyomatosis remains unknown .One of the proposed theories include neurogenic dysfunction of the gall bladder leading to increased intracystic pressure and resulting in formation of Rokintansky Aschoff sinuses.

Most of the patients present with the symptoms similar to cholecystitis including right upper quadrant pain, dyspepsia, fatty food intolerance; however quite a good number of patients remain asymptomatic for a long time. Ultrasonography continues to be the gold standard study for the diagnosis. Radiographically, three morphologic types of adenomyomatosis are described: diffuse, segmental and fundal. There is a questionable association between gall bladder carcinoma and adenomyomatosis of gall bladder. Ootani et al documented a strong association between gall bladder cancer and segmental type adenomyomatosis of gall bladder in a retrospective study. Symptomatic patients with adenomyomatosis are treated with surgical intervention; however, controversy continues on surgical intervention for asymptomatic patients with incidental diagnosis of adenomyomatosis.

Conclusion: A large proportion of patients with adenomyomatosis of gall bladder remain asymptomatic; which leads to the condition going undiagnosed for years. This might be the underlying reason for the higher prevalence of the condition in adults compared to pediatric population. The advent of highly sensitive prenatal ultrasonography is leading to identification of cases with congenital adenomyomatosis of gallbladder like in our patient; thereby leading to close monitoring of these cases and prevention of complications.

References: 1. Debray D, Pariente D, Gauthier F, et al; Cholelithiasis in infancy; A study of 40 cases. J Pediatr; 2. Auggusto Zani,Maurizo Pacilli , Andrea Conforti ,Alessandra Casati, Sandro Bosco, Denis Andrew Cozzi; Adenomyomatosis of the gall bladder; Pediatric and Developmental Pathology 8,577-580,2005; 3. Mustafa Akcam, Ilker Buyukyavuz, Metin Ciris, Naim Eris; Adenomyomatosis of the gall bladder ressembling honeycomb in a child; Eur J Pediatr(2008) 167:1079-1081; 4. D.Alberti, F Callea , G Camoni, D Falchetti, W Rigamnti , G Caccia; Adenomyomatosis of the Gallbladder in childhood; Journal of pediatric Surgery,Vol 33, Np. 9 (September),1998

 

581  CYSTIC FIBROSIS ASSOCIATED INSPISSATED BILE SYNDROME IN AN INFANT MIMICKING BILIARY ATRESIA

Walaa Elfar, Prita Mohanty, Christopher Gitzelmann, University of Rochester, Rochester, NY, USA

Background: Cystic fibrosis is associated with inspissated bile syndrome producing cholestasis secondary to plugging of macroscopically normal bile ducts. Jaundice is uncommon in infants with cystic fibrosis, but when it occurs with meconium ileus it is usually due to the inspissated biliary secretions causing obstruction. Most patients have spontaneous resolution of cholestasis with choleretics and surgical biliary irrigation. However, there have been compelling reports of cholestasis associated with extrahepatic biliary tree abnormalities including hypoplasia and atresia and subsequent progressive fatal liver disease.

Case report: We report a cholestatic infant, former 34-weeker, with cystic fibrosis on newborn screen and confirmed with sweat chloride test. He was on TPN for a month following enterectomy and removal of 15 cm of jejunum secondary to meconium ileus not responding to medical management. He was noted to have acholic stools and mild hepatomegaly. Worsening direct hyperbilirubinemia was noted at 20 days of life with a total bilirubin of 4 mg/dl and direct of 2.9 mg/dl. GGT and alkaline phosphatase were elevated at 252 U/L and 459 U/L. Abdominal ultrasound showed contracted gall bladder and no evidence of dilated bile ducts. HIDA scan showed no bile excretion. Liver enzymes continued to worsen (ALT 194 mg/dl, AST 441 mg/dl) with increase in the direct bilirubin to 8.6 mg/dl and GGT to 1258 U/L. Given the recent abdominal surgeries, nutritional and respiratory status of the infant, surgery team opted to avoid exploratory laparotomy if possible. MRCP was consistent with no visualization of the biliary system and a small gallbladder, findings compatible with biliary atresia. Ultrasound guided transhepatic percutaneous cholangiogram demonstrated the same findings. Liver biopsy showed paucity and proliferation of bile ducts and cholestatic changes. To ascertain the cause of biliary occlusion, intraoperative cholangiogram was performed which showed fibrotic gallbladder and prompt excretion into the duodenum. The intrahepatic bile ducts were slightly narrow but fully developed. Gallbladder pathology showed acute and chronic cholecystitis with histiocytic accumulation and bile inspissation. Bile flow was achieved with surgical biliary irrigation and choleretics with resolution of the cholestasis.

Discussion: Cystic fibrosis in infants presents with prolonged jaundice unresponsive to choleretics, nondilated bile ducts and small gallbladder on ultrasound, absent biliary excretion on nuclear scan, and characteristic liver biopsy with focal biliary cirrhosis. This report should raise awareness of inspissated bile duct syndrome in cystic fibrosis infants with persistent cholestasis in the setting of acholic stools and findings suggestive of biliary obstruction. The goal of subsequent exploration is to document ductal patency and to prevent further surgical interventions such as Kasai Portoenterostomy in this vulnerable group of infants.

 

582 INTERNALIZATION OF PARTIAL EXTERNAL BILIARY DIVERSION IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2: A VIABLE OPTION?

Xiaoyi Zhang, Bennett W. Calder, Nagraj Kasi, Satish N. Nadig, Medical University of South Carolina, Charleston, SC, USA

In patients with progressive familial intrahepatic cholestasis (PFIC), partial external biliary diversions (PEBD) are a first-line alternative to definitive treatment by liver transplantation. However, the few long-term PEBD studies available suggest substantial rates of ostomy complications. At 20 months, a Caucasian male with a history of PFIC type 2 received cholecystojejunal Roux-en-Y with cutaneous loop stoma due to intense pruritus. Following surgical intervention, his cholestatic symptoms resolved, and he continued with normal growth and development. However, at age 11, elective biliary drain internalization was pursued due to increasing difficulty with stoma management, including stoma leaks, local dermatitis, and limitation of physical activities resulting in overall decreased quality of life. To accomplish this, the 8 cm jejunal segment was resected from the stoma and anastomosed to the transverse colon with a small (3cm) anastomosis in an end-to-side fashion, resulting in a cholecystojejunocolostomy. Post-operatively, he had transient cholestasis and mild transaminitis that resolved with a course of antibiotics. To date, he has not had evidence of surgical complications, diarrhea, or return of pruritus. This case represents an under-recognized entity in the pediatric surgical population. Here, we illustrate that internalization of partial external biliary diversions with colonic anastomosis is a viable alternative, particularly in adolescent patients for whom a permanent stoma is not a feasible option. Further discussion of optimal long-term treatment regimens in PFIC is warranted.

 

583 WITHDRAWN

 


INFLAMMATORY BOWEL DISEASE

 

633 SLE MASQUERADING AS INFLAMMATORY BOWEL DISEASE

Albert Chan, Rebecca Abell, Megan Gabel, University of Rochester Medical Center, Pediatric Gastroenterology, Rochester, NY, USA

Introduction: Autoimmune diseases often share overlapping symptoms. When multiple diseases can have gastrointestinal manifestations, it is important to keep a broad differential in mind. We present the case of a 16-year-old female who initially appeared to be a case of new onset Inflammatory Bowel Disease (IBD), but ultimately the solidifying diagnosis was lupus.

Case: A 16-year-old female with a history of Raynaud’s, presented with abdominal pain, 15lb weight loss, joint pains, rash, lymphadenopathy, low grade fevers, and diarrhea for three weeks following a trip to a lake. She was treated empirically with metronidazole and nitazoxanide without resolution of her diarrhea. Family history was pertinent for colitis and celiac disease. Lab work was significant for mild anemia (Hemoglobin 10.6 g/dL) and elevated erythrocyte sedimentation rate (24 mm/hr). On admission, she was having one loose stool daily. Stool studies were heme positive with a positive lactoferrin and elevated calprotectin (72 µg/g). She had a normal CT and MRE. She was evaluated by pediatric gastroenterology, infectious disease, and hematology services without a clear diagnosis. She continued to have persistent fevers and developed warm hemolytic anemia (Hgb 4.5 g/dL). Upon further questioning, it was discovered that she had a history of a photosensitive rash. ANA was found to be positive, leading to rheumatologic evaluation. Additional lab work demonstrated a positive anti-RNP, anti-Smith, and dsDNA. Given these laboratory findings and clinical picture it was felt that the case was consistent with systemic lupus erythematosus (SLE) complicated by a hemolytic anemia. She was treated with high dose steroids, resulting in significant clinical improvement and subsequently transitioned to hydroxychloroquine. Shortly after discharge, the patient developed frank hematochezia and underwent EGD/Colonoscopy which visually demonstrated gastritis and erythematous mucosa in the rectum. Biopsies were notable for chronic gastritis, crypt branching in the colon and foamy histiocytes in the lamina propria of the rectum.

Discussion: Our case highlights the diagnostic ambiguity that can be seen with autoimmune diagnoses. It remains unclear if the biopsy findings are related to IBD or secondary to medications. While our patient had many debilitating gastrointestinal symptoms, a more detailed history suggested that this was not a typical presentation of IBD. This demonstrates the importance of a thorough autoimmune work up, as other disease processes may either mimic IBD or be concurrent processes. SLE is known to have multi-organ involvement, including the gastrointestinal system. Review of the literature suggests that when gastrointestinal symptoms are the presenting feature of SLE there is often a delay in diagnosis. Pediatric gastroenterologists should have SLE in the differential when evaluating patients, especially with those with multisystem presentation.

 

634  LYMPHOMA IN PEDIATRIC PATIENTS WITH INFLAMMATORY BOWEL DISEASE TREATED WITH INFLIXIMAB AND WITHOUT PRIOR EXPOSURE TO IMMUNOMODULATORS

Alejandro Llanos-Chea1, Harland S. Winter1, Jason M. Shapiro2, Logan Jerger1, Timothy Menz2, Alison Friedmann1, Diana Treaba2, Gary J. Russell1, 1MassGeneral Hospital for Children, Boston, Massachusetts, USA, 2Hasbro Children's Hospital, Providence, RI, USA

Background: Treatment of inflammatory bowel disease (IBD) with anti-tumor necrosis factor (anti-TNF) agents and immunomodulators is associated with an increased risk for lymphoma especially in young males. Currently published reports mainly associate combination therapy with development of lymphoma, particularly hepatocellular T-cell lymphoma. A recent oral presentation (A-1522) at ECCO reported three lymphomas in the DEVELOP database with over 20,000 patient years of follow-up. All patients with lymphoma had been exposed to immunomodulators. We report two adolescents who developed lymphoma while being treated with anti-TNF therapy without prior exposure to immunomodulators (6-mercaptopurine or azathioprine).

Case 1: An 18-year-old male was treated with infliximab (IFX) monotherapy for 34.5 months for ulcerative colitis (UC). He had no prior exposure to immunomodulators. UC was in remission, but he developed persistent right clavicular pain for 7 months along with a palpable supraclavicular node. There was a lesion in the clavicle with surrounding soft tissue swelling and lymphadenopathy. An excisional biopsy was consistent with grade 3 follicular lymphoma (90%) with areas of diffuse large B-cell lymphoma (10%). EBV-encoded RNA staining was negative. He had a PET scan with multifocal skeletal abnormalities. IFX was discontinued and he was started on chemotherapy.

Case 2: A 17 year-old male with history of penetrating Crohn’s disease was in remission and had been taking IFX monotherapy for 30 months when he presented with acute onset of back pain. He had no prior exposure to immunomodulators. A lumbar spine MRI showed osteomyelitis involving the posterolateral aspect of the L1 vertebral body with extension into the posterior elements. A CT-guided bone biopsy was consistent with stage 3 largely necrotic B-cell lymphoma with areas of high proliferation. EBV-LMP antibody was negative. A PET scan was negative. IFX was discontinued and he was started on chemotherapy.

Discussion: Most IBD patients who are treated with anti-TNF therapy and who develop non-Hodgkin lymphoma have been exposed to or are taking an immunomodulator. Previous studies have supported the belief that the risk of lymphoma comes from combination treatment with anti-TNF therapy and an immunomodulator. We report two adolescents who developed lymphoma on anti-TNF (IFX) monotherapy.

Conclusion: Informing patients and families that the risk of lymphoma remains extremely low is supported by the literature; but there appears to be some small risk even with anti-TNF monotherapy.

 

635 HEPATOCELLULAR CARCINOMA IN A YOUNG MAN WITH CROHN'S DISEASE ON INFLIXIMAB AND METHOTREXATE

Barry Hirsch1, Anastasios Angelides1, Angela Shih2, Stephen O'Connor1, 1Baystate Medical Center, Springfield, MA, USA, 2Massachusetts General Hospital, Boston, MA, USA

Introduction: Inflammatory Bowel Disease (IBD) has been linked to the development of intestinal adenocarcinoma and colorectal carcinomas. Two classes of medications utilized in the treatment of IBD: anti-TNF and immunomodulator therapy, have been linked to the development of non-melanoma skin cancers and lymphomas. Hepatocellular carcinoma (HCC) occurs most commonly in the setting of cirrhosis due to chronic viral infection, chronic alcohol consumption or metabolic disease but has not been linked to IBD or its therapy. Although there have been 11 prior case reports of HCC occurring in IBD patients, this is the youngest patient reported and the first patient being treated with the combination of methotrexate(MTX) and infliximab(IFX).

Case Report: JC is a 23-year-old male diagnosed with Crohn’s disease at nine years of age involving the ileum, colon, stomach, and stricturing disease of the rectum. Prior therapy included corticosteroids, mesalamine, azathioprine (AZA), adalimumab, ciprofloxacin, metronidazole, enteral feeding and rectal dilatations. At age 21 he was started on IFX and MTX which successfully controlled his symptoms. Twenty-three months after beginning IFX he had an elevation in the alanine aminotransferase (ALT) level which normalized within three months. However four months later he developed a recurrent low grade ALT elevation (58-78 u/L) which waxed and waned but demonstrated an overall rise. The MTX dose was lowered from 25 to 12.5 mg weekly without improvement. Abdominal ultrasound performed five months after the second ALT rise revealed three solid masses in the right lobe of the liver. Liver biopsy revealed a moderately differentiated HCC without surrounding cirrhosis. Metastatic survey was negative. He underwent a right hepatic lobectomy including segment 4 and a hilar lymphadenectomy on 12/18/14. He received no chemotherapy and has been disease free since that time.

Discussion: HCC accounts for approximately 500,000 deaths per year. However, our patient had none of the conventional risk factors for HCC. It is noteworthy that the patient was asymptomatic, with quiescent Crohn’s activity, and the ALT elevations were inconsistent and low grade. Our patient does not have sclerosing pericholangitis, which has been associated with hepatobiliary cancers, including HCC. Consistent with other reports of Crohn’s disease in association with HCC our patient was first diagnosed at a young age, was treated with a variety of immune suppressant agents, and did not have associated cirrhosis. It is of note that 8 of 11 reported Crohn’s patients with HCC were treated with AZA at some point in their course. Although clearly an uncommon occurrence now that there are a dozen case reports, HCC needs to be a consideration in patients with IBD on immunodulator therapy with or without concurrent anti-TNF therapy.

 

636 PERIANAL FISTULOUS CROHN'S DISEASE: SETON AS A PART OF PRIMARY TREATMENT

Birol Öztürk, Bilge Pahin Akkelle, Engin Tutar, Samet Yardimci, Rabia Ergelen, Deniz Ertem, Marmara University School Of Medicine, Istanbul, Turkey

Introduction: The incidence of perianal fistula ranges from %10-15 in pediatric Crohn’s disease (CD), and it can be the first manifestation in 5% of them. Since all fistulas are potential sources for abscess development and abdominal sepsis, ensuring an adequate drainage is essential. Treatment of complex perianal fistula associated CD is a challenge. In adult guidelines, surgical drainage and seton placement combined with Infliximab (IFX) has been stated as an efficacious treatment method for complex fistula associated CD. Non-cutting seton maintains patency of fistula tract, therefore limits recurrent abscess formation and enhances the healing of fistula while systemic anti-inflammatory effect of IFX has been established. In pediatric CD patients seton drainage combined with medical therapy have not been studied extensively. The aim of this study was to describe the outcome of seton drain combined treatment of complex perianal fistula in eight pediatric IBD patients.

Method: In this study, medical records of all consecutive CD patients with perianal disease who were followed-up in Marmara University School of Medicine, Div. of Pediatric Gastroenterology between 2012-2016 were reviewed. Thirteen patients with complex perianal fistula associated CD were found. Pelvic MR evaluation was done in all patients, and fistulas were assessed according the Park’s classification. The last follow-up visit was completed at median of six months.

Results: CD patients with complex fistula were diagnosed at mean age of 13.8±4.1 years. In three patients perianal fistulas were the first clinical manifestation of the disease, and IFX therapy was initiated after the placement of seton drain. Four patients developed fistulas during follow-up while using immune modulator therapy, and one patient with perianal CD developed new fistula under IFX therapy. Three out of 8 children also had perianal abscesses hence required abscess drainage before seton placement. Seven patients received IFX induction at weeks 0-2-6, and maintenance at 8-week interval, and one patient who did not respond IFX was given Etanercept. Five patients have been using both IFX and Azathioprine for maintenance. Patients were followed up frequently for assessment of fistula discharge, perianal induration and quality of life at outpatient clinic. The mean duration of seton follow-up was 6.25+2.7 months, and all of the patients had their seton in place at the time of this writing. The fistula drainage disappeared in five patients while three patients still had minimal fistula drainage. None of the patients had active perianal disease after the third dose of IFX induction therapy.

Conclusion: In perianal Crohn’s disease, the aim of treatment is complete healing fistula, namely closure of fistula with cessation of drainage and prevention of recurrence. Combining seton with IFX has proven better results in adults when compared to either medication alone. It seems to be similar in pediatric perianal Crohn’s disease as well.

 

637 TAKAYASU ARTERITIS DEVELOPING DURING TREATMENT OF ULCERATIVE COLITIS WITH ADALIMUMAB IN A 17-YEAR-OLD MALE: A CASE REPORT

Carlos Camacho1, Edwin Rodriguez1, German Gonzalez2, Ivonne Arroyo1, Nicole Rodriguez1, 1Hospital Episcopal San Lucas, Ponce, Puerto Rico, USA, 2Centro Medico, Mayaguez, Puerto Rico, USA

Case of a 17-year-old male patient with a past medical history of diabetes mellitus that presented with a two weeks of severe hematochezia, weight loss, generalized weakness, anemia and elevated acute phase reactants. Colonoscopy with biopsy showed a diagnosis of ulcerative colitis. Initially he was treated with prednisone and mesalamime, after several months he had a relapse of his condition and was treated with azathioprine for near a year and had another relapse. This time patient was treated with adalimumab and did well for a year. One morning upon awaking he developed a sharp excruciating pain of his left arm associated to swelling over his left arm with mottle fingers specially second, third and fourth digits. Patient was rush to emergency service and in physical exam showed hypertension, and decreased left radial pulses. Doppler study of left extremity showed decreased blood flow of the left subclavian artery with suspected thrombus. Patient was started in anticoagulant therapy and rushed to a tertiary hospital for cardiology and rheumatology evaluation. Angiogram performed showed circumferential wall thickening and narrowing of the left subclavian artery about 50%. Right and left heart catheterization confirmed a severe stenosis of the left subclavian artery and its branches suggestive of Takayasu Arteritis, also known as pulseless disease. Takayasu as a chronic inflammatory vasculitis mainly affecting large vessels, especially the aorta and its mail branches, as well as coronary and pulmonary arteries. The incidence of Takayasu Arteritis on the pediatric population is unknown but has been estimated at 1-2/1,000,000. We presented an unusual case of a patient with concomitant ulcerative colitis and Takayasu arteritis, a rare coexistence that has been reported only twice in the pediatric population. The fact that basically the same medications are used to treat both conditions makes it even more unusual yet that the patient with ulcerative colitis receiving treatment with immunosuppressors develops this type of vasculitis. At the moment patient is in stable condition, actual treatment include cyclophosphamide, prednisone and nifedipine. Awaiting results of HLA testing related to both diseases. Continue in follow-up treatment by cardiology, rheumatology, and gastroenterologist services.

 

638 STEROID REFRACTORY PULMONARY NECROBIOTIC NODULES IN A PEDIATRIC PATIENT WITH ULCERATIVE COLITIS WITH RESPONSE TO INFLIXIMAB

Christine Pasquarella, Jacob Kurowski, Fariba Rezaee, Kadakkal Radhakrishnan, Cleveland Clinic Children's, Cleveland, OH, USA

Extraintestinal manifestations (EIM) of inflammatory bowel disease (IBD) are diagnosed in 25-40% of patients with musculoskeletal and dermatologic systems most commonly affected. Pulmonary manifestations (PM) of IBD are considered rare with an unknown and likely underreported prevalence. PM in IBD include inflammation of the trachea or bronchi, interstitial lung disease, and serositis. We report a 15-year-old female with a recent diagnosis of left-sided Ulcerative Colitis (UC) found to have multiple pulmonary necrobiotic nodules. The patient was diagnosed with left-sided UC after normal upper endoscopy and colonoscopy with diffuse erythema and ulceration in the rectosigmoid colon and pathology indicating chronic active colitis without granulomas. She had suboptimal response after five weeks of prednisone and was preparing for rescue biologic therapy. Prior to infliximab, she presented with acute-onset left-sided chest pain and dyspnea. Chest computed tomography showed multiple, bilateral pulmonary nodules with cavitations. Laboratory investigations were notable for a white blood cell count of 13,300 k/uL, hemoglobin 7.7 g/dL, and ESR 50 mm/hr. Extensive evaluation for infectious and vasculitic etiologies were negative including culture, broncheoalveolar lavage, echocardiogram, and antigen and antibody detection. Pulmonary function test was normal. Lung biopsy was performed; pathology identified neutrophilic abscesses with histiocytic lining without evidence of infection or vasculitis consistent with necrobiotic nodules. She was subsequently started on infliximab with good response. Necrobiotic lung nodules are sterile cavitating lung nodules and represent a significant EIM of IBD. Diagnosis is challenging due to the broad differential and evaluation required for PM in IBD. The prevalence of necrobiotic lung nodules is not well established in patients with either Crohn’s disease (CD) or UC and even less so in pediatric patients. Literature review of pediatric patients with IBD and necrobiotic lung nodules identify six patients, four with CD and two with UC. Three patients responded to steroids and three required infliximab. Interestingly, our patient had been asymptomatic from a pulmonary standpoint with continued active colitis on steroid therapy for five weeks prior to presentation of the lung nodules. As pulmonary imaging is not routinely obtained, it is difficult to speculate the size of the lung nodules at time of IBD diagnosis. We postulate that the lung nodules may correlate with disease activity as both her colitis and radiologic pulmonary findings are improving with infliximab.

 

639 VERY EARLY ONSET AND SEVERE MANIFESTATIOS OF COW'S MILK PROTEIN ALLERGY IN THREE TERM BABIES :IN UTERO SENSITIZATION?

Sima Saleh, Bertrand Leduc, Natalie Patey, Dorothée Dal Soglio, Colette Deslandres, CHU Sainte Justine, Montreal, QC, Canada

Background: Cow’s milk protein allergy (CMPA) is the most predominant milk protein and food allergy in infants and young children.. Allergic proctocolitis induced by cow’s milk protein accounts for the most common type of colitis encountered in infancy.

Aim : To report three atypical cases of proctocolitis secondary to CMPA presenting in their first days of life.

Case1: A term baby boy was fed milk formula on day one of life and this was immediately followed by hematochezia. Feedings were discontinued, total parenteral nutrition and intravenous antibiotics started .Repetitive vomiting and persistent hematochezia occurred upon trials of soy-based milk and hypoallergenic formula. He presented with an eosinophilic leukemoid reaction with white blood cells rising up to 65 x 109/L with 41% eosinophils. (26,650 eosinophils x 109 /L). He underwent a colonoscopy to the descending colon at day 14 of life which showed ulcerations , hyperemia and oedema of the mucosa . Eosinophilic colonic mucosal infiltration was seen on biopsies.There was complete resolution of symptoms 48 hours after the introduction of a complete hypoallergenic amino acid based formula.

Case 2: A term baby girl was exclusively breastfed until day 2 of life when she received one formula feeding. She presented immediate hematochezia. Eosinophilia (1.8 x 109/L) was present. An hypoallergenic formula was started. Blood-streaked stools increased to 20 daily. On Day 4 she suffered from a rectal prolapse that spontaneously reduced itself . Colonoscopy revealed an edematous colonic mucosa with superficial erosions. Biopsies showed acute mild inflammation and moderate to marked eosinophilia infiltrate of the mucosa with cryptitis highly suggestive of an allergic colitis. There was complete resolution of symptoms after the introduction of an hypoallergenic-amino-acid based milk formula.

Case 3 :An exclusively breastfed full-term boy presented with hematochezia on his fourth day of life which persisted although the mother was started on a bovine and soya protein free diet. He had hypereosinophilia to 1.46 X109/l. At day 10, a rectoscopy showed evidence of colitis with an hyperemic, inflammatory and ecchymotic mucosa. Significant infiltration by lymphocytes, plasmocytes and numerous eosinophils of the rectal mucosa was compatible with CMPA. She presented rapid and complete resolution of hematochezia with the introduction of an hypoallergenic-amino acid base formula.

Conclusion: In utero sensitization to cow’s milk protein is hypothesized to explain the very early onset CMPA in our patients. We herein report unusual presentations of CMPA as eosinophilic leukemoid reaction and rectal prolapse.

 

640  CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY: AN UNUSUAL CAUSE OF HEMATOCHEZIA

Rick Focht, Grant A. Morris, Andrea Seeley, Geisinger Medical Center, Danville, PA, USA

Introduction: Hematochezia can be one of the presenting signs of inflammatory bowel disease (IBD). We present a patient who was initially felt to have IBD but later discovered to have colon cancer, likely as part of constitutional mismatch repair deficiency (CMMR-D).

Case Report: A 17-year-old female with history of café-au-lait macules and seizures until three years of age was referred to pediatric gastroenterology for evaluation of hematochezia, lower abdominal pain, diarrhea, weight loss, and anemia. She was noted to be anemic at a blood drive which prompted her to seek medical attention. She reported intermittent diarrhea for the past year, hematochezia for the preceding two months, and a six pound weight loss over the past month. Exam was unremarkable except for scattered café-au-lait macules, 2 perianal skin tags, and hemoccult positive stool. Labs revealed a hemoglobin of 7.9 g/dL, sedimentation rate of 23 mm/hr, and c reactive protein of 8 mg/L. Endoscopy revealed polyps in the stomach, cecum, ascending colon, and recto-sigmoid colon. There was severe ulceration and friability in the cecum. Biopsies revealed fundic gland polyps in the stomach, tubulovillous adenoma with high grade dysplasia in the recto-sigmoid colon, and INVASIVE ADENOCARCINOMA in the cecum. Immunohistochemical stain of the adenocarcinoma showed diminished expression to focal loss of MSH6. CT enterography only revealed polyps in the stomach and a borderline enlarged lymph node in the cecum. Prior to colectomy our patient was noted to have numbness in her feet and left foot drop. An MRI of the brain showed a right frontal tumor. Craniotomy was performed for resection of a WHO grade III anaplastic astrocytoma. The patient underwent laparoscopic right hemicolectomy 2 weeks later for a T3 N2 invasive adenocarcinoma of the cecum.

Discussion and Conclusion: CMMR-D was first described in 1999, has a phenotype that resembles neurofibromatosis 1, and presents clinically with early onset malignancies. In comparison to Lynch syndrome, usually caused by heterozygous germline mutations in one of the mismatch repair genes (MLH1, MSH2, MSH6, or PMS2), patients with CMMR-D have biallelic germline mutations in one of these genes. While our patient lacked a germline mutation in one of the mismatch repair genes, an expanded colorectal cancer panel showed a de novo variant of uncertain significance in the POLE gene. Recent publications have reported POLE germline variants in patients with multiple colorectal adenomas and colorectal cancer. In addition, this variant may cause deficient proofreading repair during DNA replication since it lies in a disordered loop within the proofreading (exonuclease) domain that becomes ordered upon DNA binding. While the genetic basis of our patient’s disease continues to be elucidated, her clinical presentation fits that of CMMR-D and genetic analysis of POLE may need to be considered in the evaluation of patients with similar phenotypes.

 

641  GASTRIC OUTLET OBSTRUCTION: AN ATYPICAL PRESENTATION OF CROHN'S DISEASE

Jocelyn Young, Kiran Mudambi, Jennifer Mein, Daphne Say, University of California, Davis Medical Center, Sacramento, CA, USA

A 14-year-old female with a remote history of pancreatitis in early childhood presented to our facility with progressively worsening abdominal pain, emesis, feeding intolerance, and weight loss. She was initially diagnosed with pancreatitis and gastric ulcers at an outside hospital before her family brought her to our hospital for further evaluation and care. Initial imaging studies at our institution, including a CT scan of the abdomen and magnetic resonance enterography, were suggestive of obstruction at the level of the pylorus and the first portion of the duodenum. An inverted pancreas divisum was also noted, prompting consideration of surgical intervention. The patient ultimately underwent endoscopic evaluation, which confirmed the presence of a gastric outlet obstruction, as the endoscope was unable to pass the pylorus. She had marked fluid retention in the stomach, along with edema, friability, and shallow ulcerations throughout the visualized gastrointestinal tract. Histologic evaluation revealed chronic inflammation and a poorly formed granuloma in the ileocecal valve, suggestive of a new diagnosis of Crohn’s disease. Of note, the patient was found to have a family history of Crohn’s disease in multiple family members, including her mother, several maternal aunts and uncles, and her maternal grandmother. Surgical correction was postponed in favor of maximizing medical therapies. She was treated with corticosteroids and total parenteral nutrition, and was found to have improvement in obstructive symptoms and edema on repeat endoscopies. This case underscores the importance of maintaining a high index of suspicion for inflammatory bowel disease in the pediatric patient, particularly when considering the possibility of surgical intervention.

 

642  LYSOSOMAL LIPASE ACID DEFICIENCY IN BRAZILIAN CHILDREN: CLINICAL AND MOLECULAR ANALYSIS

Gabriel Nuncio Benevides, Gilda Porta, Gabriella Lima Da Costa, Natalia Canale Person, Larissa Athayde, Irene Kazue Miura, Renata Pereira Sustovich Pugliese, Vera Lucia Baggio Danesi, Marcela Seoane, Children's Institute - Hospital das Clínicas da Universidade de São Paulo, Sao Paulo, Brazil

Introduction: Lysosomal Lipase Acid Deficiency (LAL-D) is a rare autosomal recessive disorder that impairs cholesterol metabolism and leads to cholesteryl ester accumulation throughout the body, particularly in the liver, macrophages and spleen. Several cases have been reported in the literature. Report the first case series of LAL deficiency in South America and describe a newly discovered mutation that leads to LAL-D.

Methodology and Results: We reviewed the medical records of 5 children with LAL-D (4M:1F):  4 mulattoes and 1 black. The mean age at the first onset of symptoms and at the diagnosis were 5.7 years (4 months to 9 years) and 6.4 years (3 to 10 years), respectively. Clinical presentation at the onset: all patients had hepatomegaly, two siblings were asymptomatic, two presented with abdominal pain and one with diarrhea and respiratory insufficiency due to interstitial pneumonia. Table 1 shows laboratory and molecular features. The diagnosis was confirmed by enzyme assay and in three patients also by gene analysis. Genetic analysis depicted a newly described mutation (p.L89P) in all three patients. None of them were related to each other. One was homozygous and the other two had only one mutation. Molecular analysis is being made to search for duplication or intron mutation of the non homozygous patients.

Conclusion: These series reinforces that LAL deficiency should be considered in children presenting gastrointestinal symptoms associated with dyslipidemia. Moreover, we describe a new mutation in three non-related patients that may suggest a Brazilian genotype for LAL-D. Early diagnosis is particularly important in the outcome and genetic counseling.

 

643 FEMALE TEENAGEER WITH SEVERE ABDOMINAL PAIN AND VOMITING: CASE REPORT OF IDIOPATHIC GASTROPARESIS

Natascha Silva Sandy, Gabriela de Souza Gomez, Juliana Corrêa Campos Barreto, Flávia Andressa Justo, Mariana Neves Tresoldi Romanelli, Antônio Fernando Ribeiro, Gabriel Hessel, Sérgio Querino Brunetto, Elizete Aparecida Lomazi, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil

Introduction: Gastroparesis is a gastric motility disorder characterized by delayed gastric emptying in the absence of mechanical obstruction. Its epidemiology in the pediatric population is not well defined.

Case Report: A 13-year-old female was admitted with a eight months history of epigastric pain, despite the use of proton pump inhibitor, worsened in the last month – then associated with non-bilious vomiting and a weight loss of 12kg. She was afebrile, and had not any other complaints. Previous abdominal ultrasonography and two upper endoscopies had no findings. There was a previous attempt to treat Helicobacter pylori empirically, with no success due to intolerance to medications. Patient had severe malnutrition (body mass index: 14.1). Extensive Laboratory investigation remained unremarkable and serology tests for viruses (cytomegalovirus, Hepatitis A, B and C, mononucleosis, syphilis, immunodeficiency virus) were negative for active disease. Porphyria was excluded with a normal aminolevulinic acid test. Image studies of the abdomen (ultrasound and computed tomography) also failed to prove any abnormalities. A new upper endoscopy revealed mild to moderate enanthematous pangastritis of the gastric antrum and body, and moderate edema of the gastric body. The biopsy showed chronic mild unspecific duodenitis, with discrete eosinophilia and absence of H. pylori and parasites; and chronic mild unspecific esophagitis, without eosinophils and no signs of malignancy.

Severity of manifestations lead to total parenteral nutrition. Upper gastrointestinal series and enteroclysis were suggestive of gastric emptying disorders without mechanical obstruction.

Gastric emptying scintigraphy demonstrated prolonged gastric emptying: 93 minutes (VR: 9 - 15). Transition from parenteral to enteral nutrition was performed over a month. Upper endoscopy and the scintigraphy study were repetead, showing significant improvement. Idiopathic gastroparesis was diagnosed based on clinical course and imaging.

 Discussion: The integrity of the gastric motility depends on the coordination of the autonomic nervous system, smooth muscle cells and enteric neurons. Compromise of any these structures can lead to Gastroparesis. Commom symptoms include: vomiting, abdominal pain, weight loss and early satiety. The gold standard for the diagnosis of this disorder is Gastric emptying Scintigraphy. By definition, mechanical obstruction should be ruled out. The mainstays of treatment include the diagnosis and treatment of an underlying disease, correcting fluid and electrolyte disorders, alleviation of symptoms, and nutritional support. There is no well established successful specific treatment.

Conclusion: Gastroparesis in children can be challenging to diagnose and treat. Further understand of its etiology, pathophysiology, and management is necessary.

 

644  INTRACTABLE CONSTIPATION

Gabriela Hernández Vez, Private Practice, Oaxaca, Mexico

10-month-old Mexican boy with Intractable Constipation. Past medical history: malnutrition, developmental delay, panhypopituitarism, constipation. No significant family history.

1st defecation: 3rd day of life. History of constipation since birth, partially responsive to laxatives, some success with use of enemas. Abdominal distention and pain since one month of age.Physical exam. Dysmorphic features: hypertelorism, prominent forehead, hypotrophic extremities, abdomen tender on palpation, distended, hard, normal bowel sounds, anal erythema, normal rectal exam and no palpable stool.

Radiologic findings: Markedly dilated colon at the Barium enema, no transition zone found.

Histological findings: hyperthrophic myenteric plexus of the colon with numerous nueroblasts, hematoxilin and eosin satain. Anti Bcl2 antibodies depicts enlarged myenteric plexus which can be observed; immunostaining reaction. Anti-calretinin antibodies demonstrates only few mature-looking ganglionar neurons in the myenteric plexus. Ganglionar cells can not be observed while ectopic ganglionar cells can be seen in the mucosae. Anti-Bcl2 antibodies reveals ectopic neurons intermingled in the internal muscular layer of the colon. Hyperthrophic myenteric plexus and increased number of Cajal cells within the muscular layers of the colon can be observed. Anti-CD117 immunoreaction.

Hospital course: Diagnostic suspicion for Hirschsprung’s Disease (HD). A colostomy was performed, no transition zone found. During hospitalization multiple events of stoma prolapse, intestinal perforation at multiples sites, finally the surgeons decided to perform an intestinal resection of the ascending colon.

Radiological findings: Bowel distention still remains after colostomy. Nevertheless it was a partial response of the constipation. The patient was discharged from the hospital and 2 months later he died.

Neuronal intestinal dysplasia is characterized by structural changes consisting of hyperplasia of the myenteric plexus, an increase of the acetyl cholinesterase activity and the formation of giant ganglia. The condition gives rise to signs and symptoms similar to Hirschsprung's disease. Neuronal intestinal dysplasia can occur as a clinical entity itself in a localized or disseminated form. It may also accompany Hirschsprung's disease either as a localized defect or as a disseminated disorder of the entire intestinal tract. In localized forms, resection of the entire diseased segment is curative. Disseminated forms often have a fatal outcome despite ileostomy and colectomy. It is conceivable that differences in the severity of symptoms depend upon the development or absence of sympathetic innervation.

 

645 EXACERBATION OF CROHN'S DISEASE IN A PEDIATRIC PATIENT SECONDARY TO EDWARDSIELLA TARDA INFECTION

Hanwei Huang, Gia Bradley, The Herman & Walter Samuelson Children’s Hospital at Sinai, Baltimore, MD, USA

 Case Description: A 13-year-old male with ileocolonic Crohn’s disease developed nine weeks of abdominal pain, bloody diarrhea and weight loss. His disease was initially treated with 6-mercaptopurine and budesonide without improvement. Infliximab 5mg/kg led to early symptom resolution then worsening symptoms were unresponsive to infliximab 10mg/kg, prednisone or methotrexate. Infliximab antibodies were negative. Outpatient stool culture and Clostridium difficile toxin were negative. Ongoing symptoms led to hospital admission.

He was afebrile but tachycardic with an unremarkable abdominal exam. Labs revealed leukocytosis, thrombocytosis, anemia, hypoalbuminemia and elevated inflammatory markers. Stool culture and C. difficile testing were repeated. Computed tomography scan showed extensive edema and inflammatory changes from the splenic flexure to the rectum. Colonoscopy showed extensive inflammation, ulceration and exudates throughout the colon; pathology revealed mild chronic inflammatory disease.

Parenteral nutrition, methylprednisolone and metronidazole were initiated. Inpatient stool culture then became positive for Edwardsiella tarda; antibiotic therapy was started. Further history revealed the patient was swimming in the Chesapeake Bay three months prior to hospitalization and colitis symptoms started three weeks afterwards. He had clinical improvement on ampicillin and received infliximab 10mg/kg at the four-week mark. Repeat stool culture prior to discharge remained negative. Since discharge, he has been asymptomatic and is well maintained on infliximab 5mg/kg every eight weeks.

Discussion: Gastroenteritis can cause exacerbations of inflammatory bowel disease (IBD). 10.5% of IBD relapses are due to enteric infections with C. difficile being the most common organism. Edwardsiella tarda is a gram-negative bacterium in the Enterobacteriaceae family. It is uncommon in humans, but 80% of infections involve the gastrointestinal tract and most are self-limiting. Severe cases respond to most antimicrobial agents that target gram-negative bacteria. Risk factors for infection are raw seafood and brackish water. There are a few cases of adults with IBD and E. tarda enteritis, which resembles Salmonella infection.

Infectious diarrhea is typically diagnosed with a stool culture. Studies have compared the use of polymerase chain reaction (PCR) versus stool culture for other Enterobacteriaceae organisms. Sensitivity of stool cultures ranges from 54-78% with 99.9% specificity; sensitivity of PCR ranges from 96-100% with 99.4% specificity. Due to the low sensitivity, multiple stool cultures may need to be obtained if clinical suspicion is high.

Abdominal pain and bloody diarrhea are common complaints of patients with IBD. In patients with symptoms that do not improve despite escalating therapy, it is imperative to obtain a good history to explore sources of possible infection and to repeat stool cultures, especially since rare infections like E. tarda may be isolated and treated.

 

646  EFFECTS OF REPETITIVE FECAL MICROBIOTA TRANSPLANTATION IN 5 JAPANESE CHILDREN WITH ULCERATIVE COLITIS

Hirotaka Shimizu, Kenji Hosoi, Yoichiro Kaburaki, Masamichi Sato, Ichiro Takeuchi, Yuri Hirano, Katsuhiro Arai, National Center for Child Health and Develoment, Setagaya, Tokyo, Japan

Fecal microbiota transplantation (FMT) is reported to be a potential option for patients with ulcerative colitis (UC). We conducted repetitive FMTs in five children with UC.

Case 1: An 11-year-old girl was refractory to infliximab (IFX) and tacrolimus (TAC) treatments and was dependent on corticosteroid (CS) therapy. Colectomy was recommended, but she chose to receive FMTs from her father. Clinical remission was achieved with reduced CS after 16 FMTs. Moreover, the patient received antibiotic pretreatment followed by another 8 FMTs. CS-free remission was eventually achieved by 16 months of FMT treatment, and the patient has remained in remission with IFX and azathioprine (AZA) over 15 months from the last FMT.

Case 2: A 9-year-old boy was intolerant to 5-ASAs and was dependent on CS therapy. AZA was recommended, but he chose to receive FMTs from his mother. After the antibiotic pretreatment, 16 FMTs were conducted. CS was discontinued after 3 months, and the patient achieved drug-free remission.

Case 3: A 16-year-old boy was intolerant to 5-ASAs and refractory to TAC. He became CS-dependent and chose to receive FMTs from his father. After the antibiotic pretreatment, 8 FMTs were conducted. The patient’s colitis did not improve, and colonoscopy revealed extension of the disease. FMT was terminated and adalimumab (ADA) treatment was initiated, with a good response.

Case 4: A 16-year-old boy was intolerant to 5-ASAs and failed to respond to IFX. He was CS-dependent, and colectomy was recommended. As a rescue therapy, the patient chose to receive FMTs from his father. However, colonoscopy at the first FMT revealed a narrowed rectum, and the patient could not retain FMT volume (< 150 mL). Although 6 FMTs partially improved the inflammation of his rectum, FMT was terminated, and he underwent colectomy.

Case 5: A 2-year-old girl was refractory to 5-ASA, AZA, TAC, and IFX. She was CS- and parenteral nutrition-dependent, with limited amount of enteral feeding over a year. Colectomy was recommended, but her parents chose that she receive FMTs from her mother. After the antibiotic pretreatment, the first FMT by colonoscopy 2 weeks after the last IFX administration revealed endoscopic remission. However, after the initial 5 consecutive days of FMTs, her bloody diarrhea worsened, and endoscopy performed a week later revealed mucosal granularity with spontaneous bleeding. One of the reasons for this exacerbation was attributed to loss of response to IFX, but the patient’s condition partially improved with the cessation of FMT. It was assumed that her exacerbation might have been caused by food antigens contained in her mother’s stool.

Two of the five patients achieved CS-free clinical remission after repetitive FMTs. Furthermore, one achieved drug-free remission. Repetitive, instead of a single or few, FMTs may be a good option for pediatric UC, but patient selection and timing appeared to be important in our case series.

 

647  FECAL MICROBIOTA TRANSPLANTATION FOR EARLY ONSET PEDIATRIC ULCERATIVE COLITIS

Itaru Iwama, Okinawa Chubu Hospital, Uruma City, Okinawa, Japan

Background: Fecal microbiota transplantation (FMT) is a treatment for diseases which are caused by colonic dysbiosis, such as recurrent Clostridium difficile colitis. Ulcerative colitis (UC) is a chronic inflammatory bowel disease and colonic dysbiosis is reported in patients with UC. FMT is being proposed as a novel therapeutic approach to eliminate dysbiosis in UC patients. However, there are few reports for small children. We present a case of early onset pediatric UC that was treated with FMT.

Case: Our patient is 5-year-old girl who was diagnosed with UC when she was three years old. She had been treated with many medications, including 5-ASA, steroids, immunomodulators and biologics, but it was difficult to keep her in remission. She was finally able to be kept in remission with high dose Tacrolimus and Azathioprine, but her renal function deteriorated. The cause was thought to be the high dose of Tacrolimus. Discontinuation of medications and total colectomy was suggested. Her parents were not in favor of this suggestion and requested FMT. Approval from the ethics committee at Okinawa Chubu Hospital was obtained for the procedure. Her elder brother was chosen as a donor and passed the screening tests. Approximately 100 g of fresh fecal material was homogenized in 100 mL of sterile saline and filtered to remove the larger particles. In total, five infusions were administered by nasointestinal tube. There were no adverse events during the acute phase. The Tacrolimus dose was gradually decreased after the FMT, but she had recurrence of symptoms at the point at which the dose was decreased to half. At this lower dose, her renal function returned to the normal range. Her microbiota profile was examined 3 months after FMT and it had changed toward that of the donor microbiota.

Conclusion: FMT for early onset pediatric UC was safely performed in our patient and changed her microbiota flora. However, it did not result in a drug free remission in our patient.

 

648  UNDERWEIGHT ADOLESCENT MALE WITH PERSISTENT ABDOMINAL PAIN

Ivonne M Iglesias Escabi1, Zulma Zorrilla1, Humberto Lugo Vicente2, Antonio Del Valle2, 1San Juan City Hospital, San Juan, Puerto Rico, USA, 2University Pediatric Hospital Dr. Antonio Ortiz, San Juan, San Juan, Puerto Rico, USA

Superior mesenteric artery syndrome (SMAS) is a mechanical compression of the third portion of the duodenum produced by a decrease in the aorto-mesenteric angle. We review the case of an underweight 16-year-old male patient who presented with persistent epigastric pain, nausea, early satiety, bloating and anorexia of more than a month of evolution. The patient presented a month prior to our evaluation at another hospital where he underwent an explorative laparoscopic due to similar symptoms and suspicion of intestinal malrotation. After been hospitalized for two weeks he was free of symptoms, tolerating diet and discharge home. On our institution a Barium UGI series was performed due to bilious emesis and intractable abdominal pain requiring admission to hospital. The contrast was delayed in the third portion of the duodenum with proximal dilatation suggesting the diagnosis of SMAS. Also revealed reduction of mesenteric-aortic angle measuring approximately 13 degree and the distance of aorto-mesenteric approximately 6 mm. A multidisciplinary team was assign to the patient. The goal was to increase the weight through parenteral nutrition and nasojejunal enteric feeding tube. Conservative management failed to gain weight and symptoms persisted after seven weeks. An open duodeno-jejunostomy bypass procedure was performed without any complications. Patient was discharged home in post-operative day 10 tolerating frequent small high caloric and irritant free diet with medications to increase gastric emptying and epigastric pain.

This is the case of an underweight patient with uncommon diagnosis of Superior mesenteric artery syndrome. The syndrome is characterized by loss of mesenteric fat pad between superior mesenteric artery and aorta causing vascular compression of the third portion of duodenum [1-4]. Incidence is 0.1% to 0.3% of the general population, affecting more female than male, older children and young adults [4]. Most of them had a rapid decrease in weight and presented with a low BMI, but these findings do not necessary make the diagnosis [3]. Often, these patients present with postprandial nausea, intermittent abdominal pain, early satiety, bilious vomiting, and anorexia, like our patient [1-4]. Usually, the diagnosis is confirm by Barium UGI series and is supported by Abdominal CT-Scan. Initial treatment is conservative using small frequent high caloric feedings and if oral intake is not tolerated, then is provide through NET or TPN. The goal is to gain weight to relieve the duodenal obstruction. Most patients have good outcome after conservative management and nutritional support. If they fail to increase gain weight or symptoms persist, bypass surgery is the next option.

 

649 CROHN DISEASE PRESENTING WITH ACUTE KIDNEY INJURY: A CASE OF GRANULOMATOUS INTERSTITIAL NEPHRITIS

Jennifer Webster, Edisio Semeao, The Children's Hospital of Philadelphia, Phildelphia, PA, USA

Background: Granulomatous interstitial nephritis (GIN) is a rare cause of kidney injury accounting for <1% of diagnoses after renal biopsy. Cases of GIN are typically associated with medication use including antibiotics and non-steroidal anti-inflammatory agents as well as granulomatous disorders including sarcoidosis, tuberculosis, and fungal infections. Granulomatous interstitial nephritis has been reported in patients with inflammatory bowel disease attributed to use of mesalamines and can lead to kidney failure. There are very few reports of primary GIN associated with inflammatory bowel disease.

Case Presentation: A 14-year-old male who presented to the emergency room with several months of daily bloody diarrhea and weight loss, found to have elevated serum creatinine on admission. Laboratory work at that time was significant for elevated inflammatory markers (CRP 5.3, ESR 45), microcytic anemia (Hgb 10.7, MCV 77), elevated fecal calprotectin (1221), and renal insufficiency (creatinine 2.5). He underwent esophagoduodenoscopy and colonoscopy which revealed gastritis and pancolitis. Biopsies from the colon were significant for active chronic colitis with rare, poorly formed granulomas and active enteritis in the ileum. He also underwent a kidney biopsy at that time which was significant for interstitial chronic inflammation and non-necrotizing granulomas. He was treated with high dose steroids for his kidney disease and had improvement of his gastrointestinal disease with resolution of symptoms. He was started on Infliximab for maintenance therapy for Crohn's disease and was able to wean off steroids, but has had persistent evidence of renal disease with elevated creatinine.

Conclusion: Granulomatous interstitial nephritis is an uncommon finding in patients with inflammatory bowel disease and is thought to be associated with mesalamine use. This is a case of primary GIN associated with Crohn's disease, now unresponsive to effective treatment of the inflammatory bowel disease.

 

650 SMALL FIBER NEUROPATHY IN A PEDIATRIC PATIENT WITH ULCERATIVE COLITIS AND TNF INHIBITORS: MORE THAN PINS AND NEEDLES

Jessica Breton, Elie Haddad, Benjamin Ellezam, Colette Deslandres, Sainte-Justine University Hospital Center, University of Montreal, Montreal, QC, Canada

Background: Neurologic involvement in inflammatory bowel disease (IBD) population is underecognized in spite of having significant morbidity. Peripheral neuropathies (PN) are one of the most frequent neurological complications. The pathogenesis is still poorly understood but tumor necrosis factor (TNF) inhibitors-induced neuropathy has been proposed.

Case presentation: We described a 17-year-old girl with autoimmune hepatitis and ulcerative colitis who developed severe neuropathic pain affecting the lower extremities while being treated on tumor necrosis factor (TNF) inhibitor. Skin biopsy confirmed a non-length-dependent small fiber neuropathy. ELISA for serum antibodies to gangliosides revealed a high IgM anti-GM2 titer.

 Immunohistochemistry performed on skin biopsy suggested a humoral mediated mechanism. The patient was given one dose of intravenous immunoglobulin (IVIg) (1g/kg/dose) with good response and return to her baseline 6 weeks later. Repeat serology showed disappearance of IgM anti-GM2.

Conclusions: Whether this neurological complication was related to TNF-inhibitor therapy, or associated with our patient underlying immune dysregulation or even the presence of anti-ganglioside antibodies remains to be elucidated. Peripheral neuropathies associated with IBD in the pediatric population have yet not been described and this paper thus emphasizes the need for pediatric study looking at the different neurological complications associated.

 

651 AUTOIMMUNE LIVER DISEASE. TEN YEARS EXPERIENCE

Martin Vazquez, Maria Noel Tanzi, Claudio Iglesias, Centro Hospitalario Pereira Rossell, Montevideo, Montevideo, Uruguay

Introduction: Autoimmune liver diseases (ALD) in childhood include autoimmune hepatitis (AIH), autoimmune sclerosing cholangitis (ASC) and de novo autoimmune hepatitis after liver transplant. They are responsible for a progressive destruction of liver that may evolve to cirrhosis.

Aim: to evaluate ALDs features in pediatric patients treated in the Pediatric Gastroenterology Service of a developing country, during the last ten years.

Patients and Methods: we performed a descriptive and retrospective study in Centro Hospitalario Pereira Rossell, Montevideo-Uruguay. All patients with ALDs studied with liver biopsy between January 2002 and December 2013 were enrolled. Age, sex, clinical presentation diagnosis and treatment were registered.

Results: Thirty-five patients were included. Female:male ratio 4.8:1. Median age 8.6 (1-14 years). Clinical presentation: acute hepatitis 20 (RF 0.61), acute liver failure 2 (RF 0.06), insidious onset 6 (RF 0.18), complications of portal hypertension 4 (RF 0.12) and high levels of transaminases in an asymptomatic patient 1 (RF 0.03). Twenty-three patients (RF 0.69) have HAI type 1, 1 (RF 0.03) type 2, 3 (RF 0.09) ASC, 6 (RF 0.18) were seronegatives (ANA, ASMA y antiLKM). Considering pathology: 23/35 (RF 0.65) have any feature of biliary compromise and 1 (RF 0.02) has an established cirrhosis. Endoscopic retrograde cholangiographies were performed in 6 patients, allowing the diagnostic of ASC in 3 of them. 5 of these 6 patients have some degree of biliary injury in liver biopsy. Initial treatment (n 32) was: 30 (RF 0.93) patients received prednisone and azathioprine, 10 of them in association with ursodeoxicolic acid. 2 patients received just prednisone. Remission were achieved in 25/31 (RF 0.80) patients with a median time treatment duration of 3 months (1-17 months). 16/24 (RF 0.66) patients relapsed during treatment with a median time to relapse of 7 months (2–30 months). Follow-up median time was 2.8 years (2 m- 10 years).

Discussion: AIH-1 was the most frequent ALD in our series. In general clinical presentation, diagnosis, initial treatment and remission rate were similar to other series reports. Even though ASC has a lower frequency. This may be associated to a no systematic evaluation of the biliary tree in ALD due to low/delayed experience regarding some diagnostic tools during the follow-up period. Better efforts should be made and new techniques developed to improve the study of biliary tree in patients with ALD in our country.

 

652  THE SUCCESSFUL TREATMENT OF CHRONIC HEPATITIS C INFECTION WITH SOFOSBUVIR/ LEDIPASVIR IN TWO ADOLESCENTS WITH BETA THALASSEMIA MAJOR BEFORE BONE MARROW TRANSPLANT

Mohammad Nasser Kabbany, Naim Alkhouri, Praveen Kumar Conjeevaram Selvakumar, Rabi Hanna, Cleveland Clinic Foundation, Cleveland, OH, USA

Antivirals have revolutionized the treatment of chronic hepatitis C infection in adults. Unfortunately, these agents are not approved for use in children and adolescents and the standard of care remains with pegylated interferon with ribavirin. Here we report on the successful use of sofosbuvir/ ledipasvir regimen to treat two siblings with beta thalassemia major from Saudi Arabia prior to undergoing bone marrow transplant (BMT). The reason we elected to use this regimen was to avoid interferon toxicity and the exacerbation of hemolytic anemia with ribavirin.

Cases: The first patient was a 16 y.o. female who presented with chronic HCV infection, genotype 4, baseline viral load 72900 IU/mL, baseline laboratory test showed hemoglobin of 8.1 (normal 11.5 - 15.5 g/dL), MCV of 69.9 (normal 80.0 - 100.0 fL), platelet count of 677 (normal 150 - 400 k/uL), ALT of 54 (normal 0 - 45 U/L) and albumin of 4.2 (normal 3.5 - 5.0 g/dL). Liver biopsy showed severe iron overload with minimal inflammation (grade 1) and portal fibrosis (stage 1). She was started on SOF/LDV for 12 weeks. She tolerated the treatment well with the only side effect being mild insomnia. Her HCV RNA was undetectable at treatment week 4 and remained undetectable throughout treatment. She also achieved sustained virologic response (SVR) 12 weeks after completing the regimen (SVR12).

The second patient was a 17 y.o. male sibling with genotype 4 HCV infection, baseline viral load of 1670000 IU/mL, baseline tests as follows: hemoglobin of 9.6 (normal 13.0 - 17.0 g/dL), MCV of 80.5 (normal 80.0 - 100.0 fL), platelet count of 573 (normal 150 - 400 k/uL), ALT of 42 (normal 5 - 50 U/L) and albumin of 4.0 (normal 3.5 - 5.0 g/dL). Liver biopsy showed severe iron overload, grade 2 inflammation and stage 1 liver fibrosis. He completed a 12-week course of SOF/LDV without any significant side effects. His HCV RNA was undetectable at treatment week 4 and 12 weeks after completing the regimen (SVR12). Of note, there were no negative effects of SOF/LDV on hemoglobin values during treatment.

Conclusion: The use of SOF/LDV to treat chronic HCV genotype 4 infection was safe and effective in these two siblings with beta thalassemia who are being evaluated for BMT. Curing hepatitis C prior to BMT may reduce the risk of developing sinusoidal occlusion syndrome; therefore, treatment with less toxic regimens is justified even during adolescence pending the FDA approval of these medications.

 

653 ALOPECIA IN AN ADOLESCENT GIRL WITH CROHN’S DISEASE

Senthilkumar Sankararaman, Atiye Nur Aktay, Margaret Bobonich, University Hospital Rainbow Babies & Children’s Hospital and Case Western Reserve University School of Medicine, Cleveland, OH, USA

Introduction: Patients with inflammatory bowel disease (IBD) have increased risk of alopecia due to multiple factors. Management of alopecia can be challenging.

Case presentation: Our patient is an 11-year-old-girl with Crohn’s disease (CD) who initially presented with recurrent episodes of fever for a month when she was eight years old. She did not have gastrointestinal (GI) symptoms. Her past medical history was not significant. Growth and development were normal. She had an extensive infectious disease and rheumatology work up which were negative. Laboratory evaluation revealed iron deficiency anemia and hypoalbuminemia. Esophagogastroduodenoscopy and colonoscopy demonstrated gastritis, duodenitis and terminal ileitis confirming CD. Magnetic resonance enterography showed mild nonspecific thickening of the terminal ileum. She was started on oral prednisolone for induction and her fever and laboratory abnormalities resolved. For maintenance therapy, she was started on azathioprine. She developed a skin rash and fever after few doses of azathioprine prompting its discontinuation.

Methotrexate (MTX) was subsequently recommended for maintenance but parents deferred this recommendation. Prednisolone was gradually weaned and discontinued. She remained asymptomatic. Seven months later, a repeat endoscopy was performed to evaluate mucosal inflammation which showed persistent active disease. She was restarted on prednisolone followed by weekly subcutaneous injections of MTX with folic acid supplementation. Prednisolone was weaned and stopped. Fifteen months after starting MTX, she presented with localized areas of alopecia. Complete blood count, comprehensive metabolic panel, iron studies, thyroid function tests and serum zinc level were normal. Patient was referred to dermatology and was diagnosed with severe alopecia areata (AA) based on the characteristic ophiasis pattern. She received intralesional injection of triamcinolone with 90% hair regrowth. However six months later, she had a recurrence with a greater hair loss. Serial injections of triamcinolone every four weeks for three months resulted in 75% hair regrowth. She continues to remain with no GI symptoms and her recent endoscopic evaluation showed significant decrease in disease activity.

Discussion: AA is an autoimmune condition leading to disfiguring hair loss due to the collapse of immune privilege of the hair follicle and subsequent autoimmune attack. Many studies have reported an increased prevalence of AA in IBD patients likely due to shared molecular pathways and common key cytokines. However most of the cases of AA are reported in adult IBD patients. Our intention of this report is to increase awareness of this association among the clinicians who manage IBD in children. Alopecia, particularly in adolescence, can cause significant psychological stress affecting body image and self-esteem. Although the risk of recurrence is high, early dermatology referral is recommended to optimize the outcome.

 

654 IMPROVEMENT OF HEPATITIS AFTER DISCONTINUATION OF ESTROGEN-CONTAINING ORAL CONTRACEPTIVES

Arjun Sarin1, Ajay Jain2, Timothy Blaufuss1, Miguel Guzman2, Thomas Foy2, 1Children's Mercy Hospital, Kansas City, MO, USA, 2St. Louis University, St. Louis, MI, USA

Background: Newer-generation oral contraceptives contain low doses of estrogens, and tend to carry a decreased incidence of adverse effects. We present a case of an adolescent female with Kabuki syndrome who developed hepatitis while on an estrogen-containing contraceptive.

Case: A 15-year-old female with a history of Kabuki syndrome and no history of liver disease, who was on an estrogen-containing oral contraceptive, presented with abdominal pain and weakness and worsening hepatitis. A diagnostic workup was negative regarding the etiology of the hepatitis. Liver biopsy showed sinusoidal congestion and minimal fibrosis perisinusoidal. Upon discontinuation of her estrogen-containing contraceptives, her hepatitis resolved.

Summary and Conclusion: This case exhibits the relatively rare complication of hepatitis associated with estrogen-containing contraceptives. A high clinical suspicion should be had when evaluating any female presenting with acute-onset hepatitis who is on an estrogen-containing contraceptive.

 

655 EFFECTS AND INDICATIONS FOR LEUKOCYTAPHERESIS TO TREAT PEDIATRIC ULCERATIVE COLITIS : A RETROSPECTIVE STUDY ACCORDING TO DISEASE SEVERITY

Yusuke Hoshi, Fumihiko Kakuta, Tetsuji Inagaki, Takashi Honma, Daiki Abukawa, Miyagi Children's Hospita, Sendai, Miyagi, Japan

Background Leukocytapheresis (LCAP) is a second-line therapy for severe and refractory ulcerative colitis (UC) in adults. Although LCAP is effective against pediatric UC, little is known about the relationship between the clinical severity of pediatric UC and indications for LCAP.

Objectives: To determine outcomes of LCAP against pediatric UC according to disease severity and to decide the positioning of LCAP in a strategy to treat pediatric UC.

Patients: Among 13 children (boys, n 6; girls, n 7; median age, 10.5 ± 4.3 years; range, 2 to 14 years) with active UC treated with LCAP between 2004 and 2014, 9 had steroid-resistant UC and four had steroid-dependent UC. The disease stages in five and eight of the 13 patients was onset and relapse, respectively. Two, six, and five of the patients had mild, moderate, and severe UC respectively, according to the Lichtiger Clinical Activity Index (CAI), respectively. Corticosteroids were administered to 12 patients as a concomitant medication. Seven, three, and three patients were treated by 10&11, 6&9, and 5 LCAP sessions, respectively.

Methods: The severity of UC staged according to the Lichtiger CAI and pediatric ulcerative colitis activity scores (PUCAI) was analyzed from data that were retrospectively collected from clinical records. The patients were classified into two groups according to whether they had mild and moderate UC (Lichtiger CAI ≤11) or severe UC (Lichtiger CAI ≥12). We then compared rates of clinical improvement and remission, endoscopic findings, and the dose of prednisolone (PSL) between these groups.

Results: The overall rate of clinical improvement was 61.5% (8 of 13) and the rate of clinical remission was 53.8% (7 of 13) at one week after the last LCAP session. Rates of clinical improvement and remission significantly differed between the groups with mild/moderate UC and severe UC (75% vs. 40% and 62.5% vs. 40%, respectively). The mean PUCAI and Lichtiger CAI significantly decreased from baseline at one week after the last LCAP session in the group with mild/moderate UC (39.4±14.5 vs. 13.8±24.6, p 0.024 and 8.4±2.6 vs. 4.0±4.6, p 0.034, respectively), whereas both indexes did not significantly differ in the group with severe UC. The mucosal healing rate was 30% among 10 patients with available endoscopic data. The doses of PSL administered to the groups with mild/moderate UC succeed to reduce after LCAP compared with entry (39.4±11.4 vs. 24.7±8.9, p 0.020).

Conclusions We reconfirmed that LCAP is effective against refractory UC in children, and is useful to reduce the dose of corticosteroids steroid-dependent UC. The rate of clinical improvement and remission was significantly higher in patients with mild/moderate UC than severe UC. Therefore, mild and moderate pediatric UC might be a good indication for LCAP as a second-line therapy.

 

656 REFRACTORY IRON DEFICIENCY ANEMIA TREATED WITH ENDOSCOPICALLY-ASSISTED EMBOLIZATION: A CASE REPORT

Julia Fritz, Bernadette Vitola, Diana Lerner, Medical College of Wisconsin, Milwaukee, WI, USA

Introduction: Gastrointestinal bleeding is a recognized cause of iron deficiency anemia in children. The source of gastrointestinal bleeding ranges from common, such as cow’s milk protein intolerance, to rare as in the case of vascular malformations. We report a case of refractory iron deficiency anemia secondary to a vascular malformation which was treated with endoscopically assisted embolization.

Case Presentation: A 28-month-old female was referred for consultation for intermittent elevation of transaminases and iron deficiency anemia in the setting of poor growth. Iron deficiency and elevated liver enzymes were first noted at a year of age. Evaluation for iron deficiency included iron absorption testing and TMPRSS6 gene testing, both of which were normal. She had been treated with both oral and intravenous iron with minimal response prior to consultation. Extensive work-up for elevated transaminases including abdominal ultrasound, CT angiogram, celiac screening, metabolic, infectious, autoimmune, and endocrine evaluation, and liver biopsy were also normal. Her transaminases eventually normalized. She had had episodes of hematochezia in the past but three stool hemoccult cards at the time of initial consultation were negative. A colonoscopy and endoscopy were both normal but a wireless capsule placed after endoscopy revealed possible vascular ectasias in the jejenum. Anemia had improved on IV iron at this point and family opted not to pursue further intervention. However, six months later her anemia worsened and she underwent an enteroscopy which revealed multiple vascular lesions in the proximal jejunum which were linear in nature and extended 5 cm with normal mucosa both proximal and distal to the lesions. Argon plasma coagulation was applied for hemostasis, but given the extent of the lesions, treatment of the entire area was not practical. At this point, a clip was placed to mark the proximal point of the lesions. The following day, the patient underwent mesenteric angiography which identified a dysplastic vessel off a branch of the superior mesenteric artery in the region of the endoscopically placed clip. The vessel was embolized with gelfoam. She tolerated the procedure well and was subsequently able to discontinue iron therapy. Three months post-procedure she continues to have normal iron studies without iron therapy.

Discussion: Obscure gastrointestinal bleeding should be investigated as a source for refractory iron deficiency anemia. This case represents a unique, minimally invasive approach to treat vascular ectasias identified by capsule endoscopy. Endoscopically-assisted angiography and embolization may be a useful approach in other patients with vascular lesions which cannot be managed with direct cautery.

 

NEUROGASTROENTERTOLOGY AND MOTILITY

 

715 CANNABIS HYPEREMESIS SYNDROME IN THE PEDIATRIC POPULATION

Annie Goodwin1, Christina Baldwin2, Alex Wilsey3, Emily Swan3, Michael Wilsey4, 1University of South Florida, Clearwater, FL, USA, 2University of South Florida, Tampa, FL, USA, 3Florida State University, Tallahassee, FL, USA, 4All Children's Hospital, St. Petersburg, FL, USA

Introduction: Cannabis hyperemesis syndrome (CHS) is a condition characterized by severe, persistent nausea and vomiting in the setting of chronic marijuana use. Since it was first described in the early 2000s, CHS has become increasingly well known. However, additional education is needed as many patients continue to go un-diagnosed or undergo unnecessary and costly procedures. To date, few case studies have been performed in the pediatric population. Increased awareness of CHS is important to reduce unnecessary health care costs and provide appropriate care including substance abuse counseling.

Aim: Document patient demographics, presenting symptoms, time to diagnosis, diagnostic procedures used, and treatment plan so as to allow for improved delineation of the typical clinical characteristics of CHS in the pediatric population.

Method: A single institution review from 2011-2015 was performed to identify patients with a diagnosis of CHS. Patient demographic data including age, sex, height, and weight were recorded. Presenting symptoms of the patients along with details of cannabis use were also recorded. Diagnostic studies performed during patient work-up and treatment plan following diagnosis were detailed.

Results: Eleven patients were identified, the majority of which (64%) were male. Median age was 17 years with a range of 16 to 20 years of age. All patients presented with symptoms of nausea, vomiting, and abdominal pain. The majority (45%) described epigastric pain and most (64%) described the pain as sharp in nature. While most patients (82%) reported symptoms throughout the day, 18% reported more severe symptoms during the morning time. Although, the effect of hot water on symptomatology was only documented in 27% of patients, all patients queried reported improved symptoms with hot showers or baths. The majority of patients (50%) reported cannabis use frequency of 1-2 times per day. For the 8 patients for whom the length of symptoms and use of cannabis was recorded, the average length of time from onset of symptoms to diagnosis was 72 weeks. Of the patients reviewed, only 18% were referred to substance abuse treatment programs and of the 8 patients for whom follow-up was documented, 38% reported cessation of marijuana use. Of interest, two patients had vomiting and weight loss significant enough to require feeding tube placement.

Conclusions: Cannabis hyperemesis syndrome should be considered in all pediatric patients presenting with recurring episodes of nausea, vomiting, and abdominal pain. The results of this study show that despite increased knowledge about this condition, there remains significant delay between onset of symptoms and final diagnosis. Additionally, referral to substance abuse programs remains infrequent but would likely be beneficial in this patient population.

 

716 IMMUNOHISTOCHEMICAL ANALYSIS OF PEDIATRIC ACHALASIA: A CASE SERIES.

Khalil El-Chammas, Ajay Kaul, Michael Baker, Cincinnati Children's Hospital and Medical Center, Cincinnati, OH, USA

Background: Histopathologic patterns among achalasia subtypes have been described in adult patients and help to understand the pathophysiology of achalasia. This has not been reported in the pediatric population. The purpose of this study was to examine histopathologic patterns of achalasia in pediatric patients.

Methods: High resolution esophageal manometry tracings were reviewed to categorize the achalasia subtype (Chicago Classification) from children who had had deep biopsies from the lower esophageal sphincter (LES) obtained during laparoscopic myotomy. Histologic evaluation of formalin-fixed samples was performed using H&E stain as well as immunohistochemistry using antibodies to neuronal elements (calretinin, PGP9.5, GLUT-1), inhibitory neurotransmitters (VIP and nNOS), interstitial cells of Cajal (CD-117 ), inflammatory cells (CD3), glia (S-100) and smooth muscle (alpha-actin).

Key Results: Five pediatric patients with achalasia who had biopsies were identified and included, one patient had Allgrove’s syndrome. Three patients had type II achalasia and two patients had type III achalasia. Biopsies from these patients were studied and compared to those from a control (autopsy) who had no esophageal pathology. The patients’ achalasia classification and biopsy immunostaining results are presented in the following Results table: Compared to the control specimen, biopsies of all 5 achalasia patients showed atrophy of smooth muscle cells, all were positive for CD-3 (reflecting an inflammatory infiltrate), and all stained negative for VIP and nNOS. We did not find any unique findings in the child with Allgrove’s syndrome.

Conclusion And Inferences: Our case series demonstrated the presence of an inflammatory infiltrate, absence of VIP and nNOS containing neurons and smooth muscle atrophy in the LES of children with achalasia. Our findings support the hypothesis that inflammation leads to destruction of inhibitory neurons in the LES as well as atrophy of smooth muscle cells. Larger studies may help in evaluating possible correlation of histopathologic patterns among achalasia subtypes in children and potentially impact management strategies.

 

717 ACHALASIA IN A PEDIATRIC PATIENT WITH EOSINOPHILIC ESOPHAGITIS

Laurence Feinstein, Ali Mencin, Julie Khlevner, Columbia University Medical Center, New York, NY, USA

Eosinophilic Esophagitis (EoE) has been associated with a variety of nonspecific esophageal motility disturbances including low amplitude ineffective peristalsis, high amplitude esophageal body contractions, tertiary contractions, and hypo/hypertensive lower esophageal sphincter (LES) with normal relaxation. Achalasia is a rare esophageal motility disorder, occurring in 0.11/100,000 children annually. It is characterized by aperistalsis of the esophagus with failure of the lower esophageal sphincter to relax. In a retrospective study in adults with achalasia, <1% had associated EoE, this has not been reported in children.

A 9-year-old male presented to our institution with vomiting, feeding intolerance and significant weight loss over a three-month period. He had a history of intermittent vomiting since infancy and had previously been diagnosed with GERD. He was initially evaluated at an outside institution where he underwent an esophagogastroduodenoscopy (EGD), while on PPI therapy for six weeks, and was diagnosed with EoE based on 35 and 30 eos/hpf in the upper and distal esophagus respectively. He was subsequently seen by a nutritionist and started on an elimination diet of “low histamine” foods mostly consisting of pureed fruits, meats, vegetables and goats milk while he continued PPI therapy. However, symptoms continued to worsen and at the time of presentation the patient was vomiting undigested food, liquids during meals and while asleep. During the hospitalization an esophagram showed a diffusely dilated esophagus with severely delayed passage of contrast through the esophagus. High resolution esophageal manometry was performed which was significant for aperistalsis with failure of the LES to relax in 100% of wet and paste swallows without panesophageal pressurization. A diagnosis of Classic Achalasia was made based on these findings. The following day an EGD with biopsy and Botulinum Toxin (BTX) injection of the LES was performed. On gross inspection there was mild tracheolization with linear furrowing throughout the esophagus. Pathology showed only a rare intraepithelial eosinophil in the proximal esophagus. Patient had significant improvement after BTX injection and was able to slowly advance diet and tolerate it. He later underwent a Heller Myotomy with Dor Fundoplication. Dysphagia and vomiting subsequently completely resolved. Patient has been tolerating a regular diet and gaining weight.

In this case a pediatric patient presented with co-existing EoE and achalasia. The eosinophils essentially resolved with dietary changes despite worsening dysphagia due to undiagnosed achalasia. This case suggests that as seen in adults, there may be an association of achalasia in patients with EoE. Therefore it is important to consider primary esophageal motor disorders (i.e. achalasia) in children with EoE who fail to respond to conventional therapies.

 

718 DISTAL INTESTINAL OBSTRUCTION SYNDROME: A REPORT OF TEN CASES

Natascha Silva Sandy, Aline Cristina Gonçalves, Juliana Correa Campos de Barreto, Gabriela de Souza Gomez, Flavia Andressa Justo, José Dirceu Ribeiro, Gabriel Hessel, Elizete Aparecida Lomazi, Fernando Antônio Ribeiro, - Faculty of Medical Sciences - University of Campinas, Campinas, SP, Brazil

Background: Distal Intestinal Obstruction Syndrome (DIOS), initially described as meconium ileus equivalent , is defined by acute intestinal obstruction unique to cystic fibrosis (CF). Its incidence and pathogenesis are not well known. Although more common in adolescents and young adults, it can occur at younger ages. Severity of clinical manifestations is variable, as obstruction can be partial or complete, and patients may require surgical treatment.

Methods: The medical records of ten patients (5 males and 5 females) with CF and known history of DIOS were retrospectively reviewed, presenting the experience of a referral center over the last sixteen years, when the first case of DIOS was diagnosed.

Results: All patients included had two positive sweat chloride tests as well as identification of cystic fibrosis genes. Their mean age at diagnosis of DIOS was 12.1 years – ranging from 2 to 19, with median of 13.5 years. 90% of mutations of the CFTR gene detected were class I or II; and the most common genotype identified was homozygosis for the F508del mutation (50%).

In six cases, a previous history of meconium ileus was observed. All ten patients had pancreatic insufficiency. Diagnosis of DIOS was based on clinical and imaging findings. Abdominal pain, weight loss, vomiting and constipation were the most frequent manifestations. A plain abdominal film was performed in all patients, and half of them were also submitted to other imaging modalities (ultrasonography or computed tomography). Colonoscopy was performed in one case, due to complication of DIOS with intussusception.

All patients were hospitalized. Only three subjects had the development of DIOS concurrent with an episode of pulmonary exacerbation. Five patients (50%) were successfully managed with oral osmotic laxatives (mainly polyethylene glycol) and/or osmotic laxative lavage. The same number required surgical treatment: one needed a second surgery, and one has been submitted to surgical laparotomy on multiple occasions (seven times).

Mean time of follow-up after the first episode was 7.1 years, and recurrence was observed in three patients - all the patients who presented recurrence required surgical management, two were female and one was male. One death was observed: a female patient died of the chronic pulmonary disease, at age 21, ten years after her first episode of DIOS. All other nine patients continue their multidisciplinary follow-up at our center. (Summarized data is presented on the attached table).

Conclusion: Distal intestinal obstruction syndrome should be promptly recognized and properly managed in cystic fibrosis patients. Well known risk factors include pancreatic insufficiency and severe genotype. Association with previous history of meconium ileus remains as a risk factor for occurrence, recurrence, or need of surgical treatment remains controversial. A higher incidence of recurrence is reported in females.

 

719 CYCLIC VOMITING IN A TEENAGER: A DIAGNOSTIC DILEMMA SOLVED

Prasanna Kapavarapu, Richard Mones, Harlem Hospital Center, New York, NY, USA

Case: A 16 year-old male presents to ED with multiple episodes of non-bilous, non-bloody vomiting for last 2days. This is associated with mild diffuse abdomen pain, review of systems is negative. Review of medical records revealed 4 hospitalizations in last 12 months for similar complaints. Investigations thus far 3 abdominal sonograms, 2 Upper GI studies, 2 CT abdomen, multiple abdomen X-rays, eosophagogastroduodenoscopy and numerous lab tests including those for a metabolic disease. All tests were normal except for chronic active gastritis on gastric biopsy, H.pylori negative. During these hospitalizations he received IVFuids, anti-emetics, proton pump inhibitors and analgesics. Response to treatment was equivocal with no drastic response; rather it was gradual self resolution of symptoms by day4-5. Post-discharge he was asymptomatic, until he developed vomiting again within the next few months.

ED exam vitals stable, mild dehydration, soft abdomen, normoactive bowel sounds. Basic labs normal. Received fluid bolus, anti-emetics, admitted with a presumptive diagnosis of Cyclic Vomiting Syndrome (CVS). In the course of current hospitalization, patient admitted to smoking marijuana 1-3times/week for last two years and taking repeated hot showers 5-7/day to alleviate his symptoms. He also admitted his symptoms to have started one year after he started smoking marijuana and in the interval he was asymptomatic when he quit smoking marijuana for 2-3 months. With this history as well as positive urinalysis for cannabinoids, the diagnosis was revised as Cannabinoid Hyperemesis Syndrome (CHS).

Discussion: This case is an illustration of how intractable episodic vomiting could be very challenging to both patient and provider. For patient recurrent symptoms, multiple ED visits/hospitalizations, functional limitation and poor quality of life. For provider understanding the etiology and severity of such episodic vomiting and having to do extensive workup to rule out a long list of differentials to make a diagnosis is very challenging. However, in the light of increasing incidence of substance abuse in teenage populations, like in our patient it becomes very important to elicit positive history of marijuana usage to be able to consider a diagnosis of CHS, which is a rare but treatable cause of CVS.

CHS is well described condition in adults (Simonetto et al, 2012) -long-term cannabis usage, severe cyclic vomiting, temporary relief of symptoms with hot showers and complete resolution with cannabis cessation. In pediatrics to-date there are just 2 papers on CHS (Miller et al, 2010; Felton et al, 2015). This paucity in literature is because both cannabis use and the classic symptoms are under-reported and under-recognized in pediatrics. Through this case report, we hope to bring about awareness amongst both pediatricians and sub-specialists/pediatric gastroenterologists, to consider CHS as one of the possible diagnosis in patients presenting with intractable episodic vomiting.

 

720 DYSPHAGIA LUSORIA

Rami Arrouk, Rachel Herdes, Paul Hyman, Louisiana State University, New Orleans, LA, USA

Dysphagia is defined by difficulty with swallowing and can occur with defects in any of the oral, pharyngeal, or esophageal phases of swallowing. An aberrant subclavian artery compressing the esophagus, termed dysphagia lusoria, is a rare cause of dysphagia. Although a majority of children with this anatomical variant will not experience symptoms, a few present with an inability to swallow, which can lead to nutritional deficiencies and failure to thrive in children. A five-month-old female presented with poor growth and increased fussiness during feedings. Endoscopy was normal. With esophageal manometry, there was a mid-esophageal tonic pressure increase of 10 to 20 mm Hg, with superimposed phasic pressure increases 120 mmHg at the same frequency as the heart rate. A CT of the chest with contrast demonstrated a left aortic arch with aberrant right subclavian artery coursing posterior to the esophagus and medialization of the distal carotid arteries into the retropharyngeal space. These findings were diagnostic for dysphagia lusoria, which usually requires surgical intervention for correction in symptomatic individuals. An extensive work-up of our patient revealed the presence of Krabbe disease. She received a gastrostomy tube to mitigate her feeding difficulties and was referred to hospice care. Patient was not referred to cardiovascular surgery given the prognosis of her genetic medical diagnosis. The gold standard for identification of dysphagia lusoria is angiography of the aortic arch and CT imaging of the chest. This case highlights the utility of esophageal manometry as a diagnostic technique.

 

721 SUCCESSFUL TREATMENT OF REFRACTORY CYCLIC VOMITING SYNDROME WITH GASTRIC ELECTRICAL STIMULATION

Brandon Arnold, Reinaldo Garcia, Sirvart Kassabian, Matthew Wyneski, Todd Ponsky, Akron Children's Hospital, Akron, OH, USA

Introduction: Cyclic vomiting syndrome (CVS) is a disorder characterized by stereotypical episodes of severe vomiting with intervening periods of wellness. Most patients respond to lifestyle changes, prophylactic and abortive medications, but some cases are refractory to these conventional treatments. Gastric electrical stimulation (GES) has been proven a viable treatment for gastroparesis, functional dyspepsia, as well as other causes of intolerance to enteral feeds in pediatric patients. GES has not been reported in the literature to treat CVS, but may be an option for the stereotypical vomiting episodes in medication refractory CVS. To our knowledge, we present the first case report of GES successfully treating CVS in a pediatric patient.

Case: A 16-year-old male, with a past medical history of CVS, gastroparesis, migraines and depression, presented with escalation in severity and frequency of vomiting episodes. He was diagnosed with CVS 8 years prior to presentation. Initially symptoms consisted of approximately 10 episodes of vomiting daily, for 2-3 days every three months. He was originally asymptomatic between episodes until developing gastroparesis 4 years later. Gastroparesis led to daily nausea between vomiting episodes. Symptoms increased to monthly episodes of vomiting with up to 30 occurrences per day. Initial management of nausea and vomiting was unsuccessful with lifestyle changes, prophylactic and abortive medications. Prophylactic medications included a tricyclic antidepressant, anticonvulsants, and supplements. Abortive therapies during episodes of vomiting included: IV fluids, antiemetics, sedatives, and analgesics. Patient required 5 admissions for severe episodes over the two months prior to presentation. It was decided that the patient could benefit from temporary GES placement to attempt to control the episodic vomiting.

Results: Temporary GES was placed and patient had immediate relief of symptoms. At three-week follow-up, he had no daily nausea or episodes of vomiting. Prophylactic medications were able to be de-escalated during this time and there was no use of abortive medications. Patient then chose to undergo permanent placement of stimulator, after positive response to temporary GES. Following permanent placement, stimulator settings were increased to an optimal level over the subsequent months. After seven months of following the patient, he is no longer experiencing any nausea or vomiting. All daily anti-emetics have been discontinued and there is no use of abortive medications.

Conclusion: GES can not only treat daily nausea symptoms of gastroparesis, but should be considered as a viable option for treating stereotypical episodic vomiting of CVS that is refractory to medication.

 

722 HIRSCHSPRUNG DISEASE IN A PEDIATRIC PATIENT WITH CRI-DU-CHAT SYNDROME: REPORT OF A NOVEL ASSOCIATION

Colleen Maurer, Lori Mahajan, Imdad Ullah, Cleveland Clinic Children's Hospital, Cleveland, OH, USA

Hirschsprung disease (HSCR) is a heterogeneous congenital disorder characterized by aganglionosis along variable lengths of the distal gastrointestinal tract. It represents the primary genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. The genetic origin of HSCR is complex; the gene encoding the receptor tyrosine kinase RET on chromosome 10 remains the major susceptibility gene. The most commonly associated syndrome is Trisomy 21. We report a novel associated syndrome, with a previously reported possible genetic explanation.

Case Report: A term male newborn noted at birth to have microcephaly and micrognathia, developed feeding intolerance and marked abdominal distention on day three of life. He was found to have long segment HSCR and underwent hemicolectomy with Hartman’s pouch and proximal transverse colostomy. Nursing staff reported a high pitched “cat- like” cry prior to discharge. This in combination with the other dysmorphisms prompted genetic testing. Chromosomal microarray revealed a 23 Mb deletion at 5p14.3-5p15.33 consistent with the diagnosis of Cri-du-Chat syndrome.

Discussion: To date, no other cases of HSCR in a patient with Cri-du-chat have been reported in the medical literature. Other cases were identified in a review of social media sites, however. Cri-du-chat is a rare genetic deletion syndrome in which a variable portion of the short arm of chromosome 5 is missing or deleted. Studies in HSCR families have identified RET-dependent modifier loci on chromosomes 3, 5, 8, 11 and 14 with distinct effects on penetrance and severity of aganglionosis. Previously, the glial cell line-derived neurotrophic factor (GDNF) on human chromosome 5p was found necessary for recruitment of RET; thus, mutations in GDNFR are thought to contribute to human HSCR susceptibility and are currently considered a rare cause of HSCR (<5%).

Conclusion: Poor growth, feeding difficulty and constipation are common in patients with Cri-du-chat, but also occur in patients with HSCR. As these conditions may occasionally share underlying genetic origins, further diagnostic evaluation of some patients may be indicated in the proper clinical setting.

 

NUTRITION AND INTESTINAL REHABILITATION

 

758 CHILDREN WITH FEEDING DISORDERS: NORMAL BMI Z-SCORE CAMOUFLAGING UUNDERLYING NUTRITIONAL DEFICIENCIES

Diane Barsky, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA,

Background: The incidence of feeding disorders range from 10-25% of typically developing children and up to 80% in children with developmental disabilities. A feeding disorder may be defined as a state in which the child is unable to consume sufficient food and/or fluids to meet their nutritional requirements. The new DSM-5 established Avoidant/Restrictive Food Intake Disorder (ARFID) a lack of interest in eating of food manifested by persistent failure to meet appropriate nutritional and/or energy needs. In addition one of the following criteria must be associated including weight loss or failure to achieve expected gain, significant nutrition deficiency, dependency on nutritional supplements, and /or marked interference with psychosocial functioning. Children with poor feeding due to food insecurity should be excluded. There may exist a concurrent medical or psychological condition but the eating disturbance should exceed what would more routinely be expected with that condition. ARFID children can present with severe malnutrition or normal growth. The Pediatric Feeding and Swallowing Center at The Children’s Hospital of Philadelphia provides a multi-disciplinary assessment and treatment for children presenting with feeding disorders. Often children with normal BMI z-scores present without previous laboratory investigation for nutritional deficiencies. For this review normal BMI Z-score includes the range of -1.0 to +2.0 SD. The normal growth of the child may obscure the need for nutritional testing yet many present refusing multivitamin supplementation. During the multi-disciplinary team evaluation, the dietitian obtains both a 24 hour recall as well as a Food Frequency Questionnaire to identify children at high risk. This information guides the decision if nutritional laboratory testing would be indicated. These case presentations illustrate how children presenting with feeding disorders or ARFID may exhibit normal growth patterns but suffer significant micro-nutrient deficiencies.

Cases: Case 1: Five-year-old with autism, BMI Z-score 0.08, Significant nutritional labs: 25 OH Vitamin D: 3.6, Zinc 52.

Case 2: 13-month-old ex-35 wk premature infant with gastroesophageal reflux. BMI Z-score -0.37, Significant nutritional labs: 25 OH Vitamin D: 23, Zinc 60, CBC Hgb/Hct 8.1/25.6.

Case 3: Three-year-old with IgE mediated food allergies. BMI z-score +1.84, Significant nutritional labs: Vitamin D 25 OH: 20, CBC Hgb/Hct 10.4/30, Ferritin 8.

Case 4: Four-year-old with sensory processing disorder : BMI Z-score 0.51, Significant nutritional labs: Vitamin D 25 OH: 24, CBC Hgb/HCT 10.6/31, Ferritin 7.4, serum Zinc 70 ug/dl.

Case 5: Six-year-old with developmental delay, spastic diplegia and GERD, BMI Z-score -0.70, Significant nutritional labs: Ascorbic Acid level: <5 umol/L, Vitamin D 25 OH: 12. Conclusion: Micronutrient deficiencies are often preventable and treatable. Children with feeding disorders or ARFID and normal anthropometrics may be asymptomatic upon presentation. The 24 hour recall and food frequency questionnaire can provides additional guidance for further analysis of specific micronutrient deficiencies. The literature describes nutritional deficiencies in children with autism and feeding disorders, but otherwise the data is sparse on the association of nutritional deficits in children with feeding disorders These cases demonstrate how children with feeding disorders may possess substantial micro-deficiencies despite normal BMI Z-score. Future studies should define the prevalence of nutritional deficiencies in patient populations with feeding disorders.

 

759 SCURVY IN AN ADOLESCENT WITH AUTISM SPECTRUM DISORDER

Gary A Neidich, Julie Mayo, Sanford Children's Clinic and Sanford Scool of Medicine, Sioux Falls, SD, USA

A fifteen-year-old male with an autism spectrum disorder was admitted for anemia and a three week history of leg swelling and bruising and development of inability to ambulate. He had recent normal X-rays of the lower extremities and CT of the abdomen. Vital signs on admission showed tachycardia with a pulse of 120. On physical exam the patient was pleasant and cooperative. He was pale with normal perfusion and noted to have poor dentition. He had bilateral leg swelling right greater than left and ecchymosis of both lower extremities worse at the R posterial lateral thigh. Admission labs showed a hemoglobin of 6.1g/dL, WBC 6100 and platelet count 267,000. MCV was 76. AST was 152, ALT 70, PT 13 and INR 1.08. Doppler ultrasound of the lower extremities was normal. MRI of the legs showed generalized myositis and edema of the legs with slight periosteal increased signal in the fibula. Dietary history revealed the patient had ingested only chocolate milk for over five years. An ascorbic acid level was <0.1mg/dL (normal 0.6mg/dL- 1.2mg/dL). The patient was started on parenteral Vitamin C and subsequently had a gastrostomy placed for nutritional support. Over the following week the patient improved dramatically and was able to ambulate. Within a few weeks his strength was back to normal. A repeat Vitamin C level done one week after beginning on Vitamin C was 0.8mg/dL.

Discussion: Scurvy is a disease that has become exceptionally rare. It was relatively common during the years long voyages of discovery in the late Middle Ages and Renaissance and disappeared when it was recognized that citrus fruits prevented this. Vitamin C is required for the synthesis of collagen and deficiency results in hemorrhage, defective tooth dentin formation as well as edematous swelling of the shafts of the legs, all which were present in this patient. Anemia is common in scurvy and may result from bleeding into the lower extremities and abdomen. Edema of the lower extremities along with hemorrhage may lead to inability to bear weight as in this patient. Rapid clinical improvement occurs when Vitamin C is re-introduced.

Conclusion: This case demonstrates the need to consider Vitamin C deficiency in patients with limited intake of foods and aversions. Children and adolescents with autism spectrum disorders are known to have feeding difficulties including eating a very limited selection of foods and therefore are at risk for nutritional deficiencies including scurvy. Scurvy needs to be considered in patients with limited intake of foods and particularly in children with Autism Spectrum Disorders.

 

760 DO BLENDERIZED GASTROSTOMY FEEDINGS (GBF) IMPROVE ENTERAL TOLERANCE AND ORAL INTAKE IN CHILDREN WITH SHORT BOWEL SYNDROME

Irina Strogach, John Thompson, Macy Carobene, Gillian Lam, Children's Hospital at Montefiore, Bronx, NY, USA

Background: Infants with short bowel syndrome (SBS) are initially fed via gastrostomy tube (GT) or nasogastric tube an elemental diet to improve absorptive capacity and avoid antigenic exposure to compromised intestinal mucosa. This approach often results in children who develop serious feeding aversion. Furthermore, it is unclear if elemental formulas are optimal enteral feeds for older children with short bowel syndrome. The Intestinal Rehabilitation (IR) Program at Children’s Hospital at Montefiore recently adopted a protocol to transition older children with intestinal failure/SBS to a blenderized bolus gastrostomy feeding. We present preliminary data in our cohort for seven children who demonstrated enhanced enteral tolerance. An unexpected result of this approach is an improvement in acceptance of oral intake after the blenderized feeding was initiated.

Methods: In the last 6-12 months candidate patients (pt) in the IR program greater than 2 years of age were selected to transition from elemental amino acid based gastrostomy feedings to bolus blenderized gastrostomy feeds (BGF) of the following recipe: 30% chicken, 30% potato or sweet potato, 30% carrot or pumpkin (1 oz each + 1 oz broth/water)--> blended and strained. To each 4 oz, 1/2 tspn coconut oil added to provide 29 kcal/oz and 2.6 g prot/oz. BGF is then given via GT over 15-30 min. In pts with ultra-short bowel a modified feed of 50% chicken + 50% orange vegetable was provided. Oral and GT intake was calculated at each visit and stool frequency and consistency was recorded. Data from one pt was not reported due to inconsistent adherence to protocol.

Results: Etiology of SBS in six pts were 2 NEC, 2 atresia, volvulus and gastroschisis. All six pts had improvement in consistency and frequency of stool despite an increased enteral intake. The most impressive result was pt with gastroschisis whose stool improved from 6-8 watery stools daily to 3 pasty stools daily in three days with total enteral intake increasing from 37 to 88 kcal/kg in one month. All six pts demonstrated increased in oral feeding within 1-2 months of starting GBF. Three pts improved from complete refusal of oral feeds to acceptance of oral intake of 5, 7 and 45 kcal/kg oral intake within two months of starting BGF. Three pts improved oral intake from baseline approximately 20, 25 and 100% respectively.

Discussion: Our small cohort of children with SBS improved enteral tolerance with BGF. Interestingly, all six pts improved their acceptance of oral feeding, three who had profound feeding aversion. Increased oral intake may relate to taste receptors in stomach and/or retronasal smell receptors in nasopharynx. Enhanced enteral tolerance may be secondary to decreased transit time, changes in microbiome and/or increased intestinal adaptation.

 

761  THE AETIOLOGY OF HYPOPHOSPHATEMIA IN CHILDREN RECOVERING FROM KWASHIOKOR

Etienne Nel, Simone Nicol, Stellenbosch University, Cape Town, Western Cape, South Africa

Background: The aetiology of hypophosphatemia in children recovering from kwashiorkor is poorly understood. Current theory of the pathophysiology of hypophosphatemia due to refeeding syndrome in adults describes intracellular phosphate trapping, mediated by a metabolic shift from lipid-based catabolism to carbohydrate metabolism. Treatment of hypophosphatemia associated with severe acute malnutrition (SAM) presents a challenge to the control of serum phosphate levels.

Study Design: A prospective pilot study was based at the Tygerberg Children’s Hospital Gastroenterology Unit, a tertiary referral unit in Cape Town, South Africa. Written informed consent was obtained from the legal guardian and ethical approval was obtained from Stellenbosch University’s Human Research Ethics Committee.

Ten children between the ages 6-59 months admitted to the Gastroenterology Unit and classified as having kwashiorkor or marasmic kwashiorkor were included. Children were excluded if they were known with pre-existing renal or endocrine disease involving phosphate, magnesium or calcium metabolism.

Methods: Biochemical and anthropometric variables were monitored during the course of treatment and refeeding. Management of the patients was standardised as per the Tygerberg Children’s Hospitals protocol for refeeding in severe acute malnutrition, which is in accordance with the WHO 10 step protocol. Treatment of hypophosphatemia included oral administration of 75-100 mg/kg/day of 0.8g Na2HPO4 + 0.2g KH2PO4 + 10 ml H2O providing a solution of 100 mg PO4/ml (7.8 mmol of phosphate per 10 mls solution). If patients were unable to tolerate oral feeds intravenous KPO4 was administered at 1 mmol/kg/day of phosphate.

Results: On admission 70% of children were assessed as severely underweight for age (median WAZ: -2.77, IQR: -5.07; -1.10) and 60% as stunted (median HAZ: -2.52, IQR: -5.23; -1.14) based on the WHO Z-score classification. All children were oedematous. Serum phosphate levels fell within the reference range for age (median: 1.3 mmol/l, IQR: 0.9; 1.4) and decreased to a nadir on day 7 (median: 1.15 mmol/l, IQR: 0.82; 1.5) despite routine phosphate supplementation. Low total serum calcium concentration at baseline (median: 1.8, IQR: 1.6; 1.88) reached a nadir at day 3 of treatment (median: 1.71, IQR: 1.53; 1.98), associated with a peak in PTH secretion on day 7 (median: 11.35, IQR: 9.1; 13.6), and an increased urinary phosphate (median: 3.85 IQR: 0.9; 37.85) on day 14. Renal threshold for phosphate reabsorption remained low throughout the course of refeeding and none of the patients developed biochemical evidence of refeeding syndrome.

A significant positive correlation between total calcium and phosphate (p 0.004) was determined when calculating the Spearman Rank co-efficient; indicating that low serum calcium concentration contributed to hypophosphatemia. This finding was confirmed by appropriate physiologic response to serum hypocalcaemia by the parathyroid hormone axis. A significant negative correlation (p 0.0012) was demonstrated between total calcium levels and PCT; this finding is previously undescribed in the setting of SAM.

Conclusion: This study demonstrated that in children recovering from SAM, low serum calcium levels are a potential driver for phosphaturia in the face of hypophosphatemia. This is mediated via an appropriate PTH response. Further investigation of calcium supplementation and the contribution of vitamin D to phosphate homeostasis in SAM should be undertaken.

 

762  INCIDENTAL IDENTIFICATION OF AN INFLAMMATORY ADENOMA IN THE SETTING OF PEDIATRIC NASH

Stephanie Bachi De Castro Oliveira, Rohit Kohli, Amit K. Samba, Alexander J. Towbin, Anita Gupta, James I. Geller,

Jaimie D. Nathan, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA

Hepatocellular adenomas (HCA) are rare benign tumors in pediatrics with potential for malignant transformation. There are no established recommendations regarding their management in the pediatric population. We report a case of an inflammatory adenoma with activation of the β-catenin pathway in a pediatric patient with nonalcoholic steatohepatitis (NASH).

Case Report: The patient is an 11-year-old asymptomatic female, who had a microlobulated liver lesion measuring 4.1 x 4.3 x 3.9 cm evidenced in MRI with pathology consistent with inflammatory adenoma with activation of β-catenin pathway arising in a background of NASH, NAFLD activity score 4/8. Alpha-fetoprotein levels were normal. After discussing the options with oncology, hepatology, surgery and the patient’s family, it was decided to observe the patient with short-term imaging follow-up. MRI repeated 4 months after the initial scan demonstrated stable disease with an interval subjective decrease in the amount of background fatty liver infiltration. Alphafetoprotein levels remained normal.

Discussion: It is important to estimate the risk of malignant transformation of an HCA in a child to avoid unnecessary hepatic resection. Stoot et al showed that malignant transformation is a rare complication of HCAs in general, with an estimated risk of approximately 4.2 %. Of note, only 4.4% of the malignant transformations were reported in a tumor smaller than 5 cm in diameter. It is not known if the background of hepatic steatosis increases this risk, due to the paucity of similar cases in the literature. The pathological subtype can be helpful in estimating the malignant transformation risk. Pathologically, HCAs are separated into four groups: inflammatory adenomas, hepatocyte nuclear factor -1 alpha (HNF1α) inactivated hepatocellular adenomas, β-catenin activated adenomas, and other lesions. β-catenin mutated HCAs have the highest risk of malignant transformation to HCC. In our patient, the hepatic adenoma was confirmed to be β-catenin positive which will warrant long-term follow-up due to the increased risk of malignant transformation. Conclusion: We present this report of a β-catenin activated inflammatory adenoma in a child within the setting of obesity and NASH. This rare case highlights the thought process leading to a decision for expectant management despite β-catenin activation. Increase in size of the lesion (greater than 5 cm), increase in alphafetoprotein to abnormal levels, or any other radiologic feature concerning for hepatocellular carcinoma in future MRIs will warrant further investigation with a repeated biopsy and discussion of surgical resection and / or liver transplantation in the future.

 

PANCREATOLOGY

 

804  TRIPLE THREAT: A FIRST CASE REPORT OF PANCREATIC LIPOMA, CELIAC DISEASE, AND ULCERATIVE COLITIS IN A TEENAGE GIRL WITH ABDOMINAL PAIN AND BLOODY DIARRHEA

Jonathan Manzo, Azam Soroush, Jersey Shore University Medical Center, Neptune, NJ, USA

Educational Objectives:

1.             Discuss a unique case of pancreatic lipomas in association with celiac disease and ulcerative colitis

2.             Understand the role of radiologic studies in the diagnosis of pancreatic lipomas

3.             Consider pancreatic lipomas in the differential diagnosis of pancreatic masses in pediatrics

The patient is a 14-year-old white female with no significant past medical history who presented to a local ED with two weeks history of abdominal pain and a few days of bloody diarrhea. A CT scan of the abdomen was done which revealed the presence of two pancreatic masses, thought to be lipomas. The patient was discharged and instructed to follow-up with a gastroenterologist. On follow-up a CBC, CMP, lipid profile, amylase, and lipase were unremarkable. Infectious workup was done including stool culture, ova and parasites, rotavirus, yersinia and C. diff toxin A&B, all were negative. Fecal calprotectin was elevated and celiac testing was abnormal.

Upper and lower endoscopies were done, which revealed gastritis, duodenitis, and mass effect in the gastric antrum that was believed to be secondary to the pancreatic mass. She also had pancolitis, but her terminal ileum was not visualized. Biopsy showed celiac disease ,and pancolitis suggestive of ulcerative colitis. MRE showed a normal small intestine, but a thickening of the colon. The pancreas was normal. MRI showed a fat containing mass 1.4 cm x 1.3cm in the pancreatic head and another 1.4cm x 0.7cm in the pancreatic neck. Repeat MRI in three months did not show a significant change in the tumor size.

Lipomas are benign tumors composed of mature adipose cells enclosed by a thin fibrous capsule. Lipomas are often found in the subcutaneous tissue, but may develop in any part of the body. Pancreatic lipomas are a rare occurrence with only 50 published cases since it was first encountered in 1989, mostly in the elderly population. Pancreatic lipomas are not an entity that is well described in the pediatric population, with only 1 case report in the literature. The most common location is within the head of the pancreas. Differential diagnosis includes focal fatty infiltrate, teratoma, liposarcoma, fibrolipoma, and lipoblastoma.

Pancreatic lipomas are benign tumors and are often asymptomatic. Symptoms may include abdominal pain, pancreatitis, or obstruction. They are usually discovered as an incidental finding on CT or MRI. MRI is considered to be the imaging modality of choice. Lesions visualized by MRI are usually less than 3cm in size, homogenous fatty lesions with well defined borders. Lesions causing no dilation of the pancreatic or common bile duct can be classified as a benign lipoma and do not require tissue diagnosis. Although once thought to be rare, incidence of pancreatic lipoma is on the rise. This may be explained by increased use of CT and MR imaging in practice, as well as more sophisticated imaging technology and quality.

There is no previous case report of an association between pancreatic lipoma and ulcerative colitis or celiac disease, however there have been reports of celiac disease and lipomatosis involving subcutaneous tissue.

 

805  DELAYED DIAGNOSIS OF CYSTIC FIBROSIS IN A TEENAGE GIRL WITH RECURRENT ABDOMINAL PAIN

Kate Ellery, Ala Shaikhkhalil, Cheryl Gariepy, Chandar Ramanathan, Karen McCoy, Nationwide Children's Hospital, Columbus, OH, USA

Pediatric acute recurrent pancreatitis (ARP) is increasing in incidence and is linked, in many cases, to gene mutations. One of the genes involved in the pathogenesis of ARP is the cAMP-regulated epithelial chloride channel CFTR, the gene responsible for cystic fibrosis (CF). Whether to screen older children presenting with ARP for CFTR mutations is controversial. We present a case of a well-grown child whose ARP led to the diagnosis of CF.

A 12-year-old Hispanic girl with no family history of pancreatic disease or CF presented after two episodes of acute pancreatitis. Her BMI was at the 70th percentile. Review of systems revealed chronic abdominal pain that worsened with fatty meals, mild chronic cough, low physical endurance, recurrent sinus infections, and history of nasal polyps. Mild epigastric tenderness and moderate digital clubbing were noted.

Two months later, she had appendicitis and underwent an appendectomy. Histologic examination of the appendix showed acute serositis and abundant luminal mucus. Magnetic resonance cholangiopancreatography showed a small pancreas. A hereditary pancreatitis gene panel showed that she is a compound heterozygote for 2 CF causing CFTR mutations, I507del and S945L. No pathologic mutations were found in PRSS1, SPINK1, CASR, or CTRC. Sweat chloride was in the intermediate range at 58 mmol/L. Fecal elastase was low normal and her FEV1 was 77% of predicted for age. Chest CT revealed bilateral bronchiectatic changes. Sinus CT showed complete opacification of paranasal sinuses. Throat culture grew Methicillin susceptible Staphylococcus aureus and Pseudomonas aeruginosa. Fat-soluble vitamin levels were normal.

Based on the clinical picture and CFTR mutations, she was diagnosed with CF. Bronchoscopy showed chronic mucosal inflammation and culture grew Pseudomonas aeruginosa. She underwent surgery for nasal polyps. With standard CF care including regular chest therapy, her cough, congestion, physical endurance, and FEV1 improved.

The clinical diagnosis of CF in most individuals in the US is made by newborn screening or recurrent sinopulmonary infections, steattorhea, and failure to thrive in early childhood. Exocrine pancreatic insufficiency is present in 85% of individuals with CF by 1 year of age and pancreatitis is rare. The I507del mutation is one of the common CFTR loss-of-function mutations that cause CF with early pancreatic insufficiency. The S945L mutation is rare and causes misprocessing of the protein and decreased chloride conductance but ~60% of individuals carrying this mutation and a severe CFTR mutation are pancreatic sufficient. Although this child was born prior to implementation of newborn screening in Texas, she would likely not have been identified by current strategies. Gastroenterologists must consider sweat and CFTR testing in patients with ARP, even in the absence of classic CF features as this may lead to the diagnosis of CF with significant health and treatment implications.

 

806  USE OF ENDOSCOPIC NECROSECTOMY FOR WALLED OFF NECROSIS (WON) IN NECROTIZING PANCREATITIS IN A CHILD

Sana Mansoor, Zarela Molle-Rios, Thomas Kowalski, Nemours/A.I duPont Hospital for Children, Sidney Kimmel Medical College at Thomas Jefferson University, Wilmington, DE, USA

Background: Necrotizing pancreatitis occur in less than 1% of children with acute pancreatitis. In adult studies the incidence of morbidity is 82% and mortality is 28%. Walled off necrosis (WON) is one late complication of necrotizing pancreatitis which is defined as acute necrotic collection which persists for >4weeks and develops a well defined wall.

Case History: 12 y/o male presented to the ED with severe abdominal pain and bilious emesis. Apart from elevated amylase/lipase, CT scan abdomen was obtained which revealed severe necrotizing pancreatitis. Patient was admitted to the PICU for sepsis, ascites, pleural effusion, acute hypoxic respiratory failure, hyperglycemia, gastritis, hypoalbuminemia and acute anemia. Due to persistent abdominal pain repeat CT scan was obtained on day 12 which showed extensive liquefication necrosis. Adult gastroenterologist at an affiliated institute was contacted who recommended serial imaging. Patient was eventually transitioned from TPN to enteral tube feeds. By discharge he had significantly improved pain and was tolerating oral nutrition. He otherwise had intact pancreatic endocrine function. However over the next one month patient was readmitted multiple times for severe abdominal pain, most likely from the persistent necrotic collection. Serial CT scans showed a single large stable collection with interval increase in organization and formation of wall around it. 16 weeks after the initial diagnosis this collection turned into WON and patient subsequently underwent lumen opposing metal stent (LAMS) placement under endoscopic ultrasound guidance and necrosectomy. This initial procedure was followed by 2 more sessions of endoscopic necrosectomy to remove remaining necrotic debri at intervals of 1-2 weeks. The stent was removed at the last procedure and patient tolerated all sessions with no complications. A follow-up MRI is due in 4-6 weeks.

Discussion: Acute necrotic pancreatic collections require intervention only when infected. There is clear consensus in the adult literature that to optimize outcomes, interventions should be delayed for at least 3 to 4 weeks to allow encapsulation, termed WON/walled off necrosis. For a long time traditional management in adults has been open surgical debridement/necrosectomy, with additional percutaneous drainage and peritoneal lavage. This requires multiple operative sessions which are not ideal in children. Percutaneous drainage of necrotic collection has been described in a case report in children, but this requires the presence of an indwelling catheter for an extended time and multiple sessions of drainage. Further complications include stent occlusion, secondary infection, and external fistulae. Endoscopic necrosectomy is significantly less invasive and safer therapeutic option in children. More centers with multidisciplinary teams consisting of gastroenterologist, interventional radiologist and advanced endoscopist are now offering this procedure.

 

807  RECURRENT PANCREATITIS AND TRANSAMINITIS IN AN ADOLESCENT MALE: WOULD YOUR DIFFERENTIAL DIAGNOSIS INCLUDE GASTRIC ADENOCARCINOMA?

Stefany Hernández Benabe, Nilka de Jesús-Gonzalez, Antonio Del Valle, Nilka Barrios, Maria Elena Echevarria, University of Puerto Rico Pediatric Hospital, San Juan, Puerto Rico, USA

Gastric adenocarcinoma is very rare in children, accounting for 0.05% of pediatric malignancies. Initial symptoms usually are unspecific and may include emesis and weight loss. We present a 17-year-old boy with intermittent upper abdominal pain for 2 months associated with scleral icterus. Initially, he presented epigastric pain and workup revealed pancreatitis. An abdominal ultrasound (US) showed biliary sludge, otherwise, unremarkable. Symptoms improved with bowel rest and analgesics. One week after discharge, he developed icteric sclerae, jaundice and epigastric pain. Repeat abdominal US revealed biliary duct dilation and laboratories were consistent with pancreatitis and transaminitis. Cholecystectomy was performed and pathology revealed chronic cholecystitis. He also had an endoscopic retrograde cholangiopancreatography (ERCP) and a stent placed in the biliary duct. His symptoms improved. One month later, he presented epigastric and left sided abdominal pain, nausea and non-bilious emesis that gradually evolved to be coffee-ground. Again, he was diagnosed with transaminitis and pancreatitis and a larger stent was placed via ERCP. During this procedure, endoscopy revealed gastric varices, gastritis, duodenitis and a hiatal hernia. Biopsies were obtained. At that time, he also developed severe hypertension, non-oliguric acute kidney injury, normocytic, normochromic anemia, thrombocytopenia and hyperbilirubinemia. In view of these findings, he was transferred to our institution for pediatric nephrology evaluation. Three days later, his gastric biopsy revealed a poorly differentiated adenocarcinoma of gastric origin. Chemotherapy was started and led to an initial partial response but metastasis rapidly progressed leading to his death 2 months later. A high index of suspicion is required to diagnose gastric adenocarcinoma due to its rarity and non-specific symptoms that may include findings associated to biliary obstruction along with transaminitis and pancreatitis.

 

808  PLASMAPHERESIS FOR HYPERTRIGLYCERIDEMIA-INDUCED ACUTE PANCREATITIS IN A CHILD

Ke-You Zhang, Zachary M. Sellers, Christine H. Yang, John Kerner, Kenneth Cox, Stanford University, Palo Alto, CA, USA

Abstract Body: A four-year-old male with a recent history of acute pancreatitis two weeks prior presented to an outside hospital with severe abdominal pain, lipase >20,000 U/L, amylase >3,000 U/L, and computerized tomography showing an edematous pancreas with ascites. Upon transfer to our institution, lipase was 2,434 U/L and triglycerides were >2,000 mg/dL, with blood samples noted to be grossly lipemic. Glucose was normal and calcium was low. Due to signs of end-organ dysfunction, the decision was made to perform plasmapheresis to aggressively lower triglyceride levels. After one cycle, his serum triglycerides and lipase decreased to 343 mg/dL and 1148 U/L, respectively, with overall improvement in his clinical status. Subsequently, serum triglycerides remained stable (250-300 mg/dL), and his abdominal pain improved on total parenteral nutrition (TPN) and dietary fat restriction to <5 g/day. However, serum triglycerides rebounded to 835 mg/dL when diet was liberalized to <10 g/day. Given his stable clinical appearance and lack of abdominal pain, he was managed conservatively with more stringent dietary fat restriction and initiation of omega-3 fatty acids. By time of discharge he was weaned off TPN, on a fat-restricted diet of <5 g/day, and on daily omega-3 fatty acids. A detailed review of family history yielded no history of coronary artery disease, dyslipidemia, myocardial infarction at a young age, diabetes mellitus or thyroid disease. Genetic screening for hereditary pancreatitis (PRSS1, SPINK1, CTRC, CFTR) and familial dyslipidemias (LPL, APOC2, LMF1, GPIHBP1 and APOA5) were negative. Results of whole exome sequencing are pending. He was recently liberalized to a dietary fat restriction of <20 g/day and is now on Lovaza (1000 mg omega-3) once daily. He remains asymptomatic, with stable triglyceride levels of 200-300 mg/dL.

Discussion: Hypertriglyceridemia accounts for up to 6% of acute pancreatitis cases in children, with most cases being secondary to diabetic ketoacidosis (DKA). Non-DKA hypertriglyceridemia in children is commonly due to lipoprotein lipase (LPL) deficiency. While most pediatric acute pancreatitis is mild, patients with hypertriglyceridemia-induced acute pancreatitis are more likely to develop persistent systemic inflammatory response syndrome and organ failure. To our knowledge, this is the first report of an otherwise healthy child presenting with hypertriglyceridemia-induced severe acute pancreatitis treated successfully with plasmapheresis. We review the epidemiology, risk factors, and current practices for acute and long-term management of hypertriglyceridemia-induced acute pancreatitis in children and adults.

 

809  ASSESSMENT OF PANCREATIC DUCT FUNCTION BY ENDOSCOPIC SECRETIN TEST (ePFT) IN CHILDREN WITH SUSPECTED CHRONIC PANCREATITIS

Khaled Bittar1,2, Devendra Mehta2, Nisthan Patel1,2, Janet Conrad2, Karoly Horvath2, 1University of Florida in Orlando, Orlando, FL, USA, 2Orlando Health, Orlando, FL, USA

Chronic pancreatitis (CP) leads to a gradual and irreversible replacement of normal pancreatic tissue by inflammation and fibrosis. As scarring progresses, there is a concomitant decrease in function first in the duct and then acinar cells. Abdominal pain may occur in some patients with early or minimal-change CP. At an early stage of fibrosis imaging studies are normal. A direct Secretin Endoscopic Pancreatic Function Test (ePFT) is considered the most sensitive diagnostic test for early CP in adults. Based on adult data, if the bicarbonate level increases above 80mmol/L, ductal function is considered normal.

Cases: Five patients with the suspicion of chronic pancreatitis underwent ePFT. The main symptoms were recurrent abdominal pain, diarrhea, bloating, and weight loss. One patient (NS) had imaging evidence of possible chronic pancreatitis.

Methods: The patients underwent Esophagogastroduodenoscopy (EGD) and received 0.2mcg/kg of Secretin. First, pancreatic fluid was collected for enzymes and electrolytes (bicarbonate, chloride, sodium and potassium). Then 15, 30 and 45 minutes after Secretin administration, fluids were collected for electrolytes.

Results: All patients had enzyme and electrolyte studies. Three of them had abnormal bicarbonate secretion suggestive of chronic pancreatitis. Two of them also had decreased enzyme activities. See attached Table.

Conclusion: ePFT is a method to assess early changes in the pancreatic ducts that cannot be detected by imaging studies. It is a technically easy procedure. The disadvantage is the length of the procedure. However, adult data shows that a fluid collection at 30 and 45 minutes after Secretin administration is sufficient. In our studies the peak bicarbonate secretion occurred at these time points.

 

Amylase

Lipase

Chymotrypsin

Trypsin

Elastase

Peak HCO3

Minutes

CM

0.5

41.4

0.2

65.1

0.8

62

30

MH

3.5

47.5

0.5

137.5

71

68

30

NS*

21.4

352.6

7.6

720.2

4.1

72

30

LL

101

981.3

17.3

2673.3

96.5

89

45

SB

72.7

430.9

16.2

1453.5

62.2

90

45

*Imaging evidence of chronic pancreatitis

 

810  MATURATIONAL DELAY OF EXOCRINE PANCREATIC FUNCTION IN A CHILD WITH FAILURE TO THRIVE

Khaled Bittar1,2, Devendra Mehta2, Shaista Safder2, Karoly Horvath2, 1University of Florida,Orlando, FL, USA, 2Orlando Health, Arnold Palmer Hospital for Children, Pediatric Gastroenterology, Orlando, FL, USA

The most frequent cause of generalized pancreatic insufficiency (PI) in children is cystic fibrosis. There are rare syndromes associated with abnormal pancreatic exocrine secretion, such as Shwachman-Diamond syndrome (SDS), Johansson Blizzard syndrome and Pearson’s syndrome (PS). There are isolated temporary and permanent pancreatic enzyme (PE) deficiencies reported. We report a child whom clinical and laboratory features did not suggest any pancreatic deficiency syndrome. The child developed diarrhea and failure to thrive (FTT) after breast-feeding (BF) was discontinued. He had repeat pancreatic stimulation tests (PST) and his enzyme activities normalized after seven years of age.

Case: The Caucasian male presented with complaints of FTT, developmental delay, and chronic diarrhea at 17 months of age. His appetite and caloric intake (CI) appeared to be adequate. The foul-smelling diarrhea started at age six months after exclusive BF was switched to cow’s milk infant formula. The decline in his weight velocity was noticed at age nine months. Laboratory studies revealed anemia, normal thyroid and liver panel, negative urine organic acid and negative sweat test. His weight was below the 5th percentile. His exam revealed decreased tone. He underwent an EGD with secretin PST and was found to have generalized PI. He was started on pancrelipase, supplemental vitamins and iron. He had improvement in his stool consistency and weight gain. X-ray films did not show any bone abnormalities. He never had neutropenia. Genetics evaluation ruled out any known PI syndromes. Repeat PST at four years of age showed persistent PI. Repeat PST at ages seven and 10 years showed gradual improvement then normalization. In addition, he had normal fecal fat and elastase. Treatment was decreased gradually and eventually discontinued with continued appropriate growth. At 12-year-old, EGD was done due to decreased oral intake (OI) and PST showed normal pancreatic exocrine function test. OI improved after adjusting his psychiatric medications.

Discussion: Postnatal delay in amylase secretion is well known and typically occurs in the first six months of life. There are case reports describing congenital isolated enzyme deficiencies. Pancreatic protease enzyme secretion is well developed in newborns while there is a maturational delay (MD) in lipase and amylase secretion. FTT is a common cause for referral to pediatric gastroenterologists. Most cases do not have any organic disease. Once common etiologic factors are ruled out and the child CI found adequate there is a possibility that FTT is due to a MD in PE production. One typical pattern is that patients thrive well while they are breast-fed and the FTT manifests after the introduction of baby foods. This is due to the fact that breast milk has amylase and bile acid activated lipase activities. Our patient fits this pattern. In cases when FTT starts after BF is discontinued despite adequate daily CI, a PST should be a strong consideration.


Saturday, October 6, 2016

 

POSTER SESSION I

12:00 – 2:00 PM

 

CELIAC AND OTHER LUMINAL DISORDERS

 

844  MICROVILLOUS INCLUSION DISEASE (MVID): A REGIONAL CENTRE EXPERIENCE

Arun Urs, Anjum Grewal, Marta Cohen, Prithviraj Rao, Sally Connolly, Priya Narula, Mike Thomson, David Campbell, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, South Yorkshire, UK

Background: Microvillous inclusion disease is a rare congenital enteropathy of the intestinal epithelial cells characterized by severe intractable diarrhoea typically beginning in the first hours to days of life (early-onset form). Rarely, the diarrhoea starts later around 6 to 8 weeks of life (late-onset form). It is characterised by a mutation in the MYO5B gene and is inherited in an autosomal recessive pattern with incidence at 1 in 200,000 in children from United Kingdom.

Aim: We describe clinico-pathological features and management of four patients diagnosed with MVID at our unit over the past 10 years.

Methods: A retrospective case series submitted to histopathology department identified four children, 3F:1M with MVID at a single paediatric tertiary care centre. Patients presented with intractable diarrhoea and demonstrated intestinal failure. In case 1 due to significant co-morbidities palliative care was accepted. Two children (case 2 & 3) were siblings, products of unrelated, healthy Caucasian parents who had another two healthy boys. Both the patients tested gene positive for MYO5B mutation. They both showed metabolic decompensation, repeated episodes of dehydration, with suspected infectious and liver complications. The first three patients presented very early within three weeks of life. Case 4 had late presentation at 11 months with history of consanguinity. Diagnosis was confirmed in all cases with electron microscopy which revealed an increased number of secretory granules in the apical cytoplasm of the enterocytes, vacuolation of the surface enterocytes with apical inclusions containing microvilli, and absence of the brush border. All patients received parenteral nutrition and 3 of 4 were referred for bowel transplant. Two patients died whilst on waiting list for transplant. One patient successfully received combined liver, small bowel and pancreas transplant then died of multi-organ failure, sepsis and rejection.

Clinical features, clinical course and outcome.

Case 1. Antenatal scans -dilated fluid filled bowel loops. Watery stools, abdominal distension, weight loss, metabolic acidosis. Cerebral cortical atrophy, schizencephaly, hyperglycaemia, seizures, DIC, left leg thrombus. Died at five weeks.

Case 2. Antenatal scans- dilated bowel loops. Loose watery stools, recurrent hypoglycaemia, GORD, IFALD, Line sepsis, renal calculi, hypocalcaemia, haemangioma right lobe of liver. hypercholesterolemia, hypertriglyceridaemia. Died at 19 months.

3. Severe watery diarrhoea since birth, lethargy, worsening acidosis. Recurrent hypoglycaemia, metabolic acidosis, IFALD, Low IgG, hearing impairment, VUR- recurrent UTI, recurrent line sepsis, vocal cord paralysis, atrial septal defect. Died at 11 months

4. Antenatal scans -polyhydramnios. Abdominal distension, chronic diarrhoea, failure to thrive, HLH at 4 months - unrelated cord blood transplant, Conjugated jaundice, delayed development, hepatosplenomegaly, coagulopathy, Vitamin D deficiency, Proximal tubular nephropathy. Died at 13 months.

Summary and conclusion: MVID is a very rare disorder with generally poor long-term outcome despite diagnosis at specialist centre, early institution of parenteral nutrition and early referral for small bowel transplants. The partial or variant form can be missed till much later in infancy. Early small bowel transplant offers new horizon for disease management and outcome.

 

845  BLUE RUBBER BLEB NEVUS SYNDROME IN A CHILD WITH CELIAC DISEASE

CataLina Jaramillo, John Pohl, Fiorella Iglesias, Hassan Yaish, Primary Children’s Hospital, University of Utah, Salt Lake City, UT, USA

Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a condition characterized by multiple venous malformations involving the skin and internal organs like the gastrointestinal tract (GIT). This condition is congenital, most commonly sporadic with some autosomal dominant cases reported. The diagnosis is based on the cutaneous findings and endoscopic evidence of GI lesions. Celiac disease (CD), an immune-mediated enteropathy, can present with chronic anemia. CD management includes iron supplementation and a gluten-free diet. Management for BRBNS varies from observation to a range of surgical procedures including partial bowel resection and colectomy. In cases of symptom recurrence despite initial management, management with sirolimus has shown promising results.

Case Report: This is a 9-year-old female with severe chronic iron deficiency anemia diagnosed at five years of age with a history of small cutaneous venous malformations. She was initially evaluated by hematology and treated with iron supplementation. Despite this, the patient continued to have intermittent episodes of anemia with hemoglobin (Hgb) values as low as 4 g/dL, and later required periodic iron infusions and blood transfusions due to continuing iron deficiency. An initial esophagogastroduodenoscopy (EGD) done within the first year of diagnosis was normal, but due to continued anemia, she was reevaluated by gastroenterology at seven years of age. She had an elevated tissue transglutaminase IgA (TTGA) and EGD biopsies were diagnostic for celiac disease (modified Marsh 3A). A flexible sigmoidoscopy and an abdominal CT scan were normal. She was started on a gluten-free diet and four months later presented again with severe anemia. Her TTGA had normalized and a Meckel’s scan was negative. A repeat EGD was normal and a colonoscopy showed a large purple pedunculated polyp at the splenic flexure which was resected. Histologic examination was consistent with a venous malformation. An abdominal CT angiogram was normal. A capsule endoscopy showed multiple jejunal venous malformations, and BRBNS subsequently was diagnosed. She underwent underwent endoscopic tattooing, identifying the area of the initial colonic lesion, followed by laparoscopic segmental colon resection. Multiple small bowel venous malformation were noted on laparoscopic examination. The patient has subsequently been started on sirolimus due to the risk of continuing anemia episodes.

Discussion: Intestinal hemorrhage is the most frequent clinical presentation of BRBNS. Venous malformations are often present at birth or in early childhood, and they tend to increase in number and size with age. The combined loss of iron secondary to GI bleeding in BRBNS as well as malabsorption from the GI tract secondary to CD can lead to severe iron deficiency anemia. Early recognition of both diseases can result in early treatment. We report the only known association of BRBNS and CD in a child described in the literature.

 

846  CLOSTRIDIUM DIFFICILE COLITIS COMPLICATING KAWASAKI DISEASE IN CHILDREN: TWO CASE REPORTS.

Chaowapong Jarasvaraparn, David A. Gremse, Maria Belen Rojas Gallegos, Haidee Custodio, University of South Alabama, Mobile, AB, USA

Background: Clostridium difficile is increasingly diagnosed in children with a wide clinical spectrum ranging from asymptomatic carriage to fulminant colitis. Presenting symptoms of fever, diarrhea, and abdominal pain can mimic those of other conditions. Furthermore, rare but potential extracolonic symptoms of C. difficile such as reactive arthritis or skin and soft tissue infections can be confused with other inflammatory disorders. Kawasaki disease (KD) is an acute, self-limited vasculitis of unknown etiology that occurs predominantly in infants and young children; characterized by high spiking and remittent fever, bilateral nonexudative conjunctivitis, erythema of the lips and oral mucosa, changes in the extremities, rash and cervical lymphadenopathy. The constellation of signs and symptoms included in KD, which may appear over time rather than simultaneously, can also mimic other conditions. We present two cases of children with KD presenting with predominantly fever and Clostridium difficile colitis.

Case 1: A five-month-old African-American female, previously healthy, was admitted with a complaint of three days of non-bloody watery diarrhea and fever up to 104ᵒF at home. At the time of admission, she had no other symptoms from her physical examination. Her abdomen was soft and non-distended with hyperactive bowel sounds. Initial laboratory evaluation revealed a white blood cell count of 14.8/mcl, C-reactive protein 18 mg/dl, erythrocyte sedimentation rate 64 mm/hr, and albumin 2.3 g/L. Urinalysis was positive for leukocytes and nitrites but urine culture was negative. Viral panels were negative. Clostridium difficile toxins were detected in the stool. Despite treatment with ceftriaxone and metronidazole, a high spiking remittent fever pattern persisted. During the course of hospitalization, she developed erythema and desquamation of the lips and buccal mucosa, as well as edema of her face, hands and feet. Her feet were tender to palpation. A diffuse erythematous maculopapular eruption in her diaper area appeared accompanied with constant diarrhea (5-6 stools/day). Her echocardiogram showed a 2-3mm hemodynamically insignificant posterior pericardial fluid collection without evidence of any coronary aneurysms. The diagnosis of KD was made on day 7 and a high-dose immunoglobulin was given along with high-dose aspirin. She dramatically improved with complete resolution of fever and diarrhea- the patient was sent home on low-dose aspirin 48 hours later.

Case 2: A four-year-old white male, previously healthy, presented with a fever and non-bilious, non-bloody vomiting for 4 days (103ᵒF at home). He was irritable and not as active as usual. His rapid streptococcal test was positive and he was treated with intramuscular Penicillin G by his pediatrician. However, he continued to have poor oral intake, increased irritability and fever. Bilateral conjunctivitis without discharge developed and a maculopapular rash appeared on his palms, arms and hands with swelling of his fingers and toes. Abnormal laboratory results included a platelet count of 453,000 cells/µl, CRP 17.6 mg/dL, ESR 110 mm/hr, and albumin 2.9 g/dL. Clostridium difficile toxins were detected in his stool. The EKG was unremarkable. The first echocardiogram showed a small pericardial effusion posteriorly with normal coronary arteries. All of the viral panels were negative. He was diagnosed with KD and started intravenous immunoglobulin at day 6 of fever. During hospitalization, his abdomen became distended and his abdominal CT showed significant small bowel dilatation and wall thickening with mucosal enhancement of rectosigmoid colon. A nasogastric tube to low wall suction was placed until abdominal distension resolved and oral metronidazole was given for 14 days. Two weeks after discharge, his echocardiogram demonstrated left main coronary artery ectasia 4 millimeter without pericardial effusion. His laboratory tests showed signs of ongoing inflammation with a C-reactive protein of 8.3 mg/dL, erythrocyte sedimentation rate of 100 mm/hr, and a platelet count of 636,000 cells/µl. Therefore, he received a second dose of intravenous immunoglobulin. The echocardiogram three months after the second dose of intravenous immunoglobulin showed normal coronary arteries without aneurysm or ectasia.

Discussion: We conclude that Clostridium difficile and Kawasaki disease may occur concomitantly in children, making the diagnosis and management of both more challenging. We speculate that the gastrointestinal tract could be one of the primary sites of entry of bacterial toxins in KD patients, and may affect the immune system by acting as superantigens.

 

847  PEDIATRIC PHENOTYPE OF COLLAGENOUS GASTRITIS

I. Irastorza1, C. Gutierrez2, C. Gónzalez2, M. Saiz1, E. Aznal3, C. Tutau1, L. Borja3, M. Legarda1, F. Sánchez, 1Hospital Universitario Cruces. EHU-UPV, Barakaldo, Spain, 2Hospital Universitario Puerta de Hierro, Madrid, Spain, 3Hospital de Navarra, Pamplona, Spain

Objectives and Study: Paediatric Collagenous gastritis (CG) is a rare disorder first described in 1989. Common symptoms include abdominal pain, hematemesis and acute anaemia. It is characterized by a thick layer of subepithelial collagen with patchy distribution, associated with an inflammatory infiltrate in the lamina propria. Little is known about its specific treatment and long-term outcome.

Methods: Two girls, and one boy were diagnosed with CG between 11 and 13 years of age. Symptoms, blood tests, endoscopic and biopsy findings, treatment at diagnosis and during the follow-up and outcome are reported.

Results: All three children presented with abdominal pain, fatigue and iron deficiency anaemia. Two of them with skin pallor and intermittent back stools. None had growth impairment or was malnourished. Helicobacter pilory infection, celiac disease and other conditions presenting usually with abdominal pain and anaemia were ruled out. The first gastroscopy showed erythematous and nodular mucosa with atrophic appearance, especially in the gastric body. Colonoscopies were normal. They were prescribed different regimes of antiacid drugs and oral iron supplements. Five to 13 months after the first gastroscopy they were re-scoped for persistence of their symptoms and anaemia. The second gastroscopy showed marked erythema and nodularity of gastric body. Biopsies showed mucosal atrophy, inflammatory infiltrate and enlargement (70 to 143 microns) of the lamina propria consistent with bands of collagen (Masson trichrom stain). Review of the first biopsies revealed the presence of narrower bands of collagen that although present had been missed in the first examination. They were prescribed daily proton pump inhibitors and regular oral iron supplements. After two to seven years follow-up, all have a good quality of life, continue growing following their previous centiles, occasionally complain with abdominal pain and they are on regular proton pump inhibitor and iron supplements to avoid abdominal pain and iron deficiency anaemia. Gastroscopies performed three to seven years after the diagnosis showed similar, although milder, macroscopic and microscopic features.

Conclusion: None of the children was diagnosed with the first endoscopic procedure because lamina propria enlargement was not given appropriate relevance. The outcome of the disease seems to be, so far, benign and self-limited although in previous reports some of these patients have developed diabetes mellitus, psoriasis and achalasia. Use of iron supplements and proton pump inhibitors seems to be the most accepted therapeutic options.

 

848  SOCIAL MEDIA IN CELIAC PAEDIATRIC DISEASE: OPPORTUNITIES SINCE PRIMARY CARE PEDIATRIC

Isabel Soledad Casas Gallegos1, Joana Carbonell Torremorell2, Vanesa Fernández Díaz2, Vicente Morales Hidalgo2, Karla Chavez Caraza3, 1Pediatric Gastroenterologic Unit Alt Penedes, Barcelona, Spain, 2Primary Care Pediatric Vilafranca del Penedes, Barcelona, Spain, 3Escuela de Medicina, Tecnologico de Monterrey, Monterey, Nuevo Leon, Mexico

Introduction: Social media represents communication interface between pediatric gastroenterologist and active social media users (parents and adolescents). Patients with celiac disease are interconnected through social media, this platforms allow to connect , learn and educate oneself and others in real time on a global scale.

Objective: To determine the use of the social media in paediatric celiac disease in primary care in Barcelona.

Material and methods: Online survey was administered in adolescents and parents primary care to asses parent-adolescent preferences in use of mobile technologies and social media about a gluten-free diet. Survey questions include demographic characteristics, date of diagnosis and use of social media (Facebook, Twitter, Instagram, Pinterest, LinkedIn and Google) in paediatric celiac disease. All survey item were categorical variables. Questions regarding frequency of current use of various technologies were categorized as never, rarely, sometimes, often. and I don't know. Questions regarding interest in use of technology for health were categorized as Yes, No and I don't know.

Results: Of 122 respondents (62 parents-adolescent pairs) aproximately 55% follows any celiac association through the social media. 29,4% Facebook, 8,8% pages of the association of celiac disease. 8,8% Google, 2,94% Twitter, 2,94% LinkedIn and 2,94% YouTube. 32,14% use some apps. 58,52% were female. 50% were diagnosed between 11-15 years, and 1-5 years 6%.

Conclusion: This is the first study to compare the perspective of parents-adolescents regarding use of a wide variety of mobile and social communication in a semi-rural area of Barcelona.

The use of social media platforms and apps is emerging. Facebook and the Catalunya Celiac Association are the most consulted source.

 

849  INTRAMURAL DUODENAL HEMATOMA IN THE SETTING OF HENOCH-SCHÖNLEIN PURPURA

Joyce Varkey, Akash Pandey, Natasha Bamji, Kristina Melchert, Praveen Chander, Judah Goldschmiedt, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, NY, USA

Henoch-Schönlein purpura (HSP) is the most common form of pediatric systemic vasculitis, with nearly half suffering gastrointestinal symptoms. However, while purpuric or petechial lesions may be seen on endoscopy, true duodenal hematoma is a rare manifestation. This index case shows how important it is to pay heed to that possibility—typically seen in traumatic cases or in patients with underlying coagulopathies, there has been a paucity of cases reported in the literature.

A nine-year-old previously healthy male, who initially presented with a two-week history of abdominal pain and myalgia, was treated for acute gastroenteritis but returned with worsening symptoms. CT abdomen on admission revealed duodenal inflammation. The only positive labs were PCR for RSV and M. pneumoniae, as well as urine myoglobin and stool occult blood. MRI was consistent with an intramural duodenal hematoma. The day after admission, a petechial rash on bilateral wrists was noted, as well as right ankle swelling. At this time, a clinical diagnosis of HSP was made and the patient was sent home. The next day he returned with complaints of worsening pain, vomiting, and spread of the rash. The patient was sent home on oral steroids, but returned a few days later with persistent pain and nephrotic range proteinuria. Renal ultrasound was unremarkable, and repeat CT showed resolution of the duodenal hematoma. Renal biopsy demonstrated diffuse proliferative glomerulonephritis, consistent with a diagnosis of HSP.

HSP is a leukocytoclastic vasculitis of the small vessels characterized by IgA immune complex deposition, but a definitive etiologic agent has yet to be determined. It typically presents between the ages of 3 and 15 years with incidence rates between 10–20 per 100,000. It is defined by purpura or petechiae with lower-limb predominance, without thrombocytopenia or coagulopathy, accompanied by one or more of the following: abdominal pain, arthritis/arthralgia, renal involvement or histopathological findings. Radiological studies or biopsies may be done to screen for complications. Gastrointestinal symptoms can occur in approximately half of patients, and typically develop within 8 days of rash onset. Intussusception is the most common gastrointestinal manifestation, secondary to edema and intramural hemorrhage acting as a lead point. Nearly 60% of patients will have occult blood in their stool but massive hemorrhage and hematomas are rare. It is a self-limiting disease in the majority of cases, and conservative management is recommended in most cases of hematomas, unless complications necessitate laparoscopic investigation. Thus far, duodenal hematomas have been described in the context of patients who have suffered blunt trauma, have undergone small bowel biopsies, or who have coagulopathies. However, this case illustrates why one must keep this entity in mind when evaluating and treating abdominal pain in the milieu of HSP.

 

850  ALLERGIC PROTEIN LOSING ENTEROPATHY: NEW INSIGHTS ON DIAGNOSIS AND TREATMENT

Katherine Baldwin, Paul Hesterberg, Jess Kaplan, Massachusetts General Hospital for Children, Boston, MA, USA

Introduction: Allergic proctocolitis is the most common presentation of food allergy during infancy; it generally responds to dietary restriction and resolves by 1 year of age. Food protein-induced protein losing enteropathy (PLE) is a rare and more severe presentation of allergic disease in young children that is characterized by hypoalbuminemia, edema and severe microcytic anemia. We report on a group of toddlers who presented with hypoalbuminemia, thrombocytosis, and iron deficiency anemia who were found to have PLE ultimately attributed to milk protein allergy. We propose an alternate strategy for diagnosis and management than has previously been presented in the literature.

Case Series: Over the past 8 years, we have seen four toddlers at MassGeneral Hospital for Children with cow’s milk induced PLE. These patients also had notable anemia and thrombocytosis. All patients consumed the majority of their calories from cow’s milk. Symptoms resolved with successful elimination of cow’s milk protein (rather than an exclusive amino acid based formula) and, in all but one case, endoscopy was not utilized to make the diagnosis.

Case Presentation: Our patient (patient 1) presented at 26 months with vomiting and periorbital edema; he was found to have an albumin of 2.4 g/dL, a platelet count of 553 k/uL and a Hgb of 9.4 g/dL. He was initially evaluated by nephrology who found no evidence of proteinuria and he was referred to Pediatric Gastroenterology. Stool alpha 1 antitrypsin was elevated at 173 mg/dL. His baseline cow’s milk consumption was 28-32 ounces daily. Because of concern for a food protein induced allergy, he was started on a dairy and soy free diet; two months after initiation of the restricted diet, his stool alpha 1 antitrypsin (36 mg/dL), albumin (3.9 g/dL) and Hgb (11.4 g/dL) had normalized or improved. Skin prick testing to milk, casein and soy was negative. He has remained asymptomatic in the two years since diagnosis with successful reintroduction of soy and planned reintroduction of cow’s milk in 1 year.

Discussion: Our cases are unique both in the diagnostic workup and management. The use of endoscopy for diagnosis has been previously reported; in this case series, patients were also managed with an amino-acid based formula. (Chehade, M et al: Allergic Eosinophilic Gastroenteritis with Protein-Losing Enteropathy: Intestinal Pathology, Clinical Course and Long-term Follow-up. JPGN 42: 516-521 (2006). ) Our patients improved with elimination of milk and soy alone, arguing for this less invasive and restrictive approach to diagnosis and management of food protein-induced PLE in young children.

 

851  BEHCET'S DISEASE WITH MULTIPLE SPLENIC ABSCESSES IN A CHILD

Kyung In Lim, Eell Ryoo, Dong Hwa Yang, Gachon University, Gachon Children's Hospital, Incheon, South Korea

Aseptic splenic abscess associated with Behcet's disease is extremely rare in adults, and there have been no reports in children. We report the case of a 5-year-old male with multiple splenic abscesses treated without surgery. A boy initially visited our hospital with fever, abdominal pain, and acute watery and bloody diarrhea. He had a history of chronic abdominal pain and intermittent watery diarrhea for two years, and was treated with antibiotics at a local clinic after 10 days of fever and cervical lymph node swelling. Colonoscopy showed multiple well-demarcated ulcerations in the entire colon, and abdominal computed tomography showed multiple splenic abscesses. A pathergy test and HLA B51 test performed with polymerase chain reaction were positive. There were no infectious organisms found on ultrasound-guided fine needle aspiration. After steroid treatment, all symptoms improved, but oral and genital ulcers and abdominal pain recurred after steroid tapering. However, the patient improved with infliximab, and no recurrence was noted after six months of follow-up.

 

852  SEVERE PROTEIN-LOSING ENTEROPATHY CAUSED BY CONSTRICTIVE PERICARDITIS

Neetu Bali1, Jorge H. Vargas1, Elizabeth A. Marcus1,2, 1David Geffen School of Medicine at UCLA, Los Angeles, CA, USA, 2VA Greater Los Angeles Health Care System, Los Angeles, CA, USA

Background: Protein-losing enteropathy (PLE) is a pathophysiologic process involving loss of protein through the GI tract, resulting in decreased plasma protein or hypoalbuminemia. This in turn causes a decrease in capillary oncotic pressure leading to generalized edema. There are many primary GI conditions that can cause PLE, including inflammatory bowel disease, Celiac disease, intestinal lymphangectasia, milk protein allergy, and hypertrophic gastritis. There are also extra-intestinal disorders that can cause secondary PLE, such as right-sided heart dysfunction, most commonly associated with the Fontan procedure.

Case Presentation: A previously healthy 14-year-old male with no reported preceding illness presented with three months of lower extremity edema, two months of periorbital edema, and an 11-pound weight loss with increased abdominal girth over one month. He was referred to nephrology due to concerns for nephrotic syndrome and had a renal biopsy, which was initially consistent with focal segmental glomerulosclerosis (FSGS), a diagnosis that was later refuted. During this period, he had persistently low serum albumin (minimum 1.7g/dL). His stool alpha-1 antitrypsin was elevated (maximum 1675 mg/dL) 5 months after initial presentation. An MRE indicated mild enhancement and thickening of the rectosigmoid and distal colon. There was diffuse edema throughout the peripheral subcutaneous fat of the abdomen and pelvis. Upper endoscopy indicated abnormal gastric mucosa with friability and prominent, erythematous gastric folds. Gastric histology showed moderate chronic oxyntic gastritis and H. pylori. Additional staining was negative for CMV inclusions or features of Menetrier’s disease. Colonoscopy was grossly and histologically normal. He was treated for H. pylori 3 times, with clearance finally documented on repeat endoscopy. Due to persistent hypoalbuminemia, he had an echocardiogram showing pericardial effusion, low normal left-ventricular systolic function with paradoxical interventricular septal motion. Cardiac MRI indicated moderate diffuse pericardial thickening, consistent with inflammatory constrictive pericarditis. He subsequently underwent pericardial stripping. Notably, his albumin increased (peak 4.4 g/dL) without replacement and his edema improved significantly post-procedure.

Discussion: Our patient had an in depth work up for his hypoalbuminemia and PLE. Unlike other causes of restrictive heart disease, constrictive pericarditis is not a well-known cause of PLE. Though the pathophysiology is not thoroughly understood, it is unlike that of right-sided heart disease. Restriction of normal blood flow in the chambers of the heart and decreased cardiac output may lead to increased protein loss in the GI tract. In patients with PLE and constrictive pericarditis, pericardial stripping helps restore normal cardiac output, hence improving or resolving PLE.

 

853  INTUSSUSCEPTION AS A COMPLICATION OF CELIAC DISEASE

John Mark Stone, Robert Dillard, University of Kentucky Children's Hosptial, Lexington, KY, USA

Inpatient gastroenterology consultation was requested for a 20 month-old white female who was readmitted with ongoing general malaise, abdominal distention, constipation, poor appetite, vomiting and concern for repeat intussusception. She was in good health but from 15 to 18 months of age she fell from the 45% to the 25% in weight and developed reduced height velocity. Subsequently she became less active and playful, and seemed not to feel well. She also developed gradually worsening poor appetite, constipation, abdominal distention, and vomiting. At 19 months of age she was admitted to hospital with intractable vomiting, constipation and distention. Evaluation by pediatric surgery revealed small bowel intussusception. At laparoscopy multiple small bowel intussusceptions were reduced. The small bowel was observed to be thickened and hyper-mobile. Physical exam at consultation showed an ill appearing , irritable, malnourished child. Decreased muscle mass with thin arms and legs was seen. Buttocks were flat and abdomen was distended with small umbilical hernia present. An IgA was 142, with a tissue transglutaminase antibody greater than 100. Endoscopy revealed flattening of the mucosa and thickened folds. Histology showed villous blunting with increased intraepithelial lymphocytes.

She quickly improved with a gluten-free diet.

Conclusion: Intussusception may be a complication of celiac disease.

 

854  FATIGUE AS THE ONLY PRESENTING SYMPTOM OF CELIAC DISEASE

Sana Merchant, Shilpa Sood, Stuart Berezin, Westchester Medical Center – New York Medical College, Valhalla, NY, USA

Introduction: Celiac disease is an immune-mediated enteropathy caused by sensitivity to gluten in genetically susceptible individuals. The most common clinical manifestations of celiac disease in pediatrics include diarrhea, vomiting, abdominal pain, constipation, failure to thrive and delayed puberty. We describe two patients with atypical presentations of celiac disease, both of whom responded to gluten-free diets.

Case 1: A 13-year-old female presented with three-month history of myalgia and joint pains involving her knees, ankles, elbows and wrists without any redness or swelling. Symptoms progressed to extreme fatigue and she was unable to participate in any sports activities. Review of systems was negative for weight loss, abdominal pain, emesis, rashes or fevers and positive for new onset left sided eye and face tic-like movements. Physical exam was negative except for left sided facial tics. Rheumatology and infectious workup were negative except for elevated ASGA IgG and western blot positive for Lyme disease. She had completed two weeks of doxycycline prior to presentation. Laboratory findings are given in Table 1. Upper endoscopy showed duodenal mucosa with intraepithelial lymphocytosis >30/100 enterocytes, crypt hyperplasia and total villous atrophy, consistent with celiac disease; Marsh-Oberhuber score 3C. Within weeks of starting a gluten-free diet her myalgia and fatigue resolved and she was able to return to sports.

Case 2: A 16-year-old previously healthy male presented with three-month history of severe fatigue. He denied any gastrointestinal symptoms, weight loss, rashes, fevers or joint pains. Prior to start of symptoms he was an honor roll student and a state ranked tennis player. Due to fatigue, he missed multiple school days and had a decline in his grades. He was unable to play tennis due to lack of energy. Comprehensive evaluation by his pediatrician lead to positive celiac screening (Table 1). He was referred to Gastroenterology, and upper endoscopy showed scalloping of the duodenal folds with erosions in the duodenal bulb and pathology confirmed the diagnosis of celiac disease, Marsh-Oberhuber score 3C. Within one month of being on a gluten-free diet, his grades improved and he returned to playing tennis at a competitive level.

Discussion: Current guidelines do not recommend celiac testing for patients with fatigue in the absence of gastrointestinal manifestations. Adolescents and adults are more likely to have an atypical presentation than younger children. Our patients presented with fatigue without concurrent gastrointestinal symptoms, normal growth parameters and a negative family history of celiac disease. Based on our clinical experience, we recommend a high index of suspicion for celiac disease and considering screening for celiac disease when evaluating adolescents with extreme fatigue that have an otherwise negative workup.

 

855  PRIMARY ADRENAL INSUFFICIENCY PRESENTING AS CHRONIC ABDOMINAL PAIN, NAUSEA, AND VOMITING IN AN ADOLESCENT

Stephanie Bachi de Castro Oliveira1, Lauren Dehan2, Michael J. Rosen1, 1Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA, 2University of Cincinnati, Cincinnati, OH, USA

Introduction: Chronic Abdominal pain (CAP) is a common complaint in pediatrics and frequently an extensive investigation is performed and no abnormalities are found. However, CAP can be the initial presentation of a chronic illness, including Inflammatory Bowel Disease and Celiac Disease. We report a case of a 17-year-old female who presented with CAP and work up revealed a rare condition in pediatrics.

Case: A 17-year-old female presented with history of nausea, epigastric pain and 10 Kg weight loss in two months. Initial work-up included a normal head imaging, normal Upper GI study, sodium of 134 mEq/L and negative celiac screening. Her symptoms did not improve despite the use of Omeprazole and Amitriptyline. Additional work up included a normal abdominal ultrasound and upper endoscopy. A HIDA scan was suggestive of chronic cholecystitis and prompted the decision to perform a cholecystectomy. Her pain improved after the surgery, but she was admitted two weeks after the procedure due to persistent vomiting and dehydration. On admission, her physical exam was significant for a Blood Pressure of 83/50 mmHg and increased skin pigmentation compared to her parents. Laboratory values were significant for sodium level of 133 mEq/L and Potassium of 5.1 mEq/L. Cortisol level was undetectable with ACTH level of 1315 pg/mL. Low dose ACTH stimulation test evidenced undetectable cortisol levels at all time points, confirming the diagnosis of Adrenal Insufficiency (AI), specifically Primary AI, due to the presence of anti-adrenal antibodies. Once steroid replacement treatment was instituted, her symptoms subsided and she regained her weight. Discussion: Primary AI is the result of disease intrinsic to the adrenal cortex. It typically presents with nonspecific symptoms, including fatigue, weakness, abdominal pain, nausea, vomiting, anorexia, and weight loss. As a result, the diagnosis is often delayed, increasing the risk of severe morbidity and mortality. Other cardinal symptoms of AI include hypotension, salt craving, and skin hyperpigmentation. Classic laboratory findings include hyponatremia, hyperkalemia and hypoglycemia. Gastrointestinal symptoms occur in over 50% of patients with primary adrenal insufficiency prompting many referrals to a gastroenterologist, rather than an endocrinologist. Once treated appropriately, patients with AI generally return to their normal state of health.

Conclusion: It is important to consider AI in the differential diagnosis of patients with unexplained GI symptoms, especially those with hyponatremia or hypotension. Although rare, it is important to increase the awareness of this condition among Pediatric Gastroenterologists as patients with other immune mediated gastrointestinal diseases, such as Crohn’s Disease, have an increased risk of developing adrenal suppression either related to immune mediated processes or due to the secondary axis suppression effect by the use of exogenous steroids.

 

856  THE QUEST FOR GIST, A RARE CAUSE OF ACUTE ON CHRONIC GI BLEEDING IN CHILDREN

Walaa Elfar, Prita Mohanty, Christina Granato, Sachica Cheris, Vivek Kaul, Shivangi Kothari,, University of Rochester, Rochester, NY, USA

Background: Pediatric Gastrointestinal stromal tumors (GIST) have an annual incidence of 0.02 per million children and have a female predisposition. They are usually located in the stomach (50–60%). Chronic GI bleeding is the most common presentation.Case report: 11-year-old obese girl presented with coffee ground emesis and melena, fatigue and dizziness. Six months prior, she was seen in the ER for an isolated episode of hematemesis. The patient had no history of chronic NSAID use. No family history of gastrointestinal disorders or tumors. On exam, patient was noted to be pale, hypotensive with mild tachycardia but abdominal exam was unremarkable. Labs revealed a hemoglobin level of 4.5 g/dL with MCV of 69fL. She was also found to be iron deficient (Fe 9µg/dL, ferritin 3 ng/mL, TIBC 298µg/dL). After appropriate resuscitative measures, proton pump inhibitor and carafate were initiated. Upper endoscopy revealed a 3 cm ulcerated subepithelial nodule in the gastric antrum with no signs of active bleeding and a few 1-2 cm subepithelial nodules seen in the gastric body. Cold forceps biopsies from the large gastric nodule revealed acute gastritis with ulceration. Subsequently, she underwent ultrasound guided endoscopy (EUS) which revealed four 1-2 cm submucosal nodules arising from the muscularis propria in the gastric body. The large gastric antrum mass measured 25mm x 12mm. Additionally, a 23.4mm x 15.8mm perigastric hypoechoic lymph node was seen. EUS-guided fine needle biopsy from the gastric antrum lesion was notable for spindle cell neoplasm consistent with a mesenchymal tumor. Tumor Immunostains were positive for c-KIT and DOG-1, negative for SMA and Desmin. The lymph node aspirate was negative for malignancy. CT abdomen/pelvis revealed two exophytic masses originating from the greater curvature of the stomach in the gastric antrum with both intra- and extra-luminal components. She underwent a diagnostic laparoscopy with no evidence of metastatic disease. Robotic wedge resection of the three gastric lesions was performed with primary repair. The pathology confirmed intermediate grade GIST. Additionally, KIT and PDGFRA mutations were negative on the three resected gross lesions. She is currently undergoing genetics evaluation for mutations of the succinate dehydrogenase (SDH) gene and her labs have normalized.

Discussion: Although rare, it is important to recognize GIST as one of the etiologies for acute and chronic gastrointestinal bleeding in children. Guidelines for the management of pediatric GIST are not presently available for the paucity of reports and data. Surgery is the first-line treatment. Unlike adult onset GIST, pediatric GIST has negative KIT and PDGFRA mutations, resulting in a decreased efficacy of the target therapy with tyrosine kinase receptor inhibitors. Pediatric GIST have a relatively benign clinical course despite the occurrence of multiple tumors, high rate of metastases and tumor recurrence.

 

ENDOSCOPY

 

904  SPONTANEOUS PNEUMOMEDIASTINUM AND SUBCUTANEOUS EMPHYSEMA AFTER ESOPHAGOGASTRODUODENOSCOPY AND COLONOSCOPY WITH BIOPSIES IN THE ABSENCE OF GI TRACT PERFORATION IN A PEDIATRIC PATIENT.

Amornluck Krasaelap, Shailender Madani, Children's Hospital of Michigan, Detroit, MI, USA

Introduction: Gastrointestinal (GI) endoscopy is a common procedure for evaluation and treatment of GI disorders. Complications are rare and most commonly are bleeding and perforation. We present a first pediatric case of spontaneous pneumomediastinum and subcutaneous emphysema in the absence of GI tract perforation following esophagogastroduodenoscopy (EGD) and colonoscopy with biopsies.

Case Report: We present a 16-year-old girl underwent EGD and colonoscopy with biopsies for evaluation of chronic abdominal pain. EGD and colonoscopy with biopsies were performed under general anesthesia, with no complications. Biopsies were obtained from the esophagus, stomach, duodenum, rectum to the ileum. During recovery, patient suddenly developed severe chest pain, associated with inspiration. Vitals were stable. X-rays revealed findings consistent with pneumomediastinum with subcutaneous emphysema of the neck. Esophagogram showed no evidence of contrast extravasation. Patient was managed conservatively with gradual resolution of symptoms and pneumomediastinum on serial X-rays. Patient was subsequently diagnosed with Crohn's disease.

Discussion: EGD and colonoscopy, is a safe and widely used procedure by gastroenterologists. Pneumomediastinum after GI endoscopy is rare but most concerning for perforation of the GI tract, with an increased risk in therapeutic endoscopy. However, there is no evidence of true perforation on esophagogram and abdominal x-rays in our patient. We suppose that this might occur from prolonged air insufflation during endoscopy. This air can travel through the retroperitoneum into the mediastinum resulting in pneumomediastinum and subsequently spread through fascial planes causing subcutaneous emphysema around the neck, chest and abdomen. Our patient was managed successfully with management as this condition usually resolves completely in 48 hours.

Conclusion: We report a first case of spontaneous pneumomediastinum and subcutaneous emphysema after EGD and colonoscopy with biopsies in a pediatric patient. Although rare, this is a complication that can occur and must be recognized promptly to be managed appropriately as clinically indicated.

 

905  THE ROLE OF ENDOSCOPIC CHOLANGIOSCOPY IN AN 8-YEAR-OLD year-old WITH WILLIAMS SYNDROME AND RECURRENT CHOLEDOCHOLITHIASIS

Brian Maksimak, Marsha Kay, Mansour Parsi, Bradley Confer, Praveen Kumar Conjeevaram Selvakumar, Cleveland Clinic, Cleveland, OH, USA

We present aneightyear-old with Williams Syndrome, supravalvular aortic stenosis and a GI history significant for two episodes of choledocholithiasis complicated by acute pancreatitis. Both times he required therapeutic ERCP. Findings on the previous ERCPs showed common bile duct dilatation (CBD) along with biliary stones. Complete removal of the stones was performed with biliary sphincterotomy and balloon extraction. After the second episode of choledocholithiasis he underwent a cholecystectomy.He presents again with another episode of acute pancreatitis secondary to choledocholithiasis. Ultrasound noted CBD dilation and again underwent a repeat ERCP, this time with direct visualization with a peroral cholangioscope. ERCP showed stones within the distal CBD, which were successfully swept free with a balloon. Subsequent cholangioscopy showed high insertion of the pancreatic duct into the CBD and non-obstructive biliary web remnants. Clearance of the duct was confirmed via cholangioscopy.

Actigall was started to improve biliary flow as the stones were not calcified. There is potential need for a surgical choledochoduodenostomy if any further episodes; however the patient has been without any reoccurrence of biliary issues seen on serial RUQ ultrasounds or pancreas enzyme elevations.

Peroral cholangioscopy, first developed in the 1970’s, has been limited in its use due to technological restrictions, which have only been overcome recently. Our system is catheter based with a 1.2 mm biopsy channel, 1 mm optic channel and two irrigation channels. It has dual controls for navigation of the biliary tree and is passed via a duodenoscope 4.2 mm working channel. The diameter of the cholangioscope is 3.3 mm, limiting usefulness in smaller pediatric patients. Based on research looking at biliary duct size in relation to age, we postulate that our cholangioscope is able to be used in children seven years of age or greater. In review of the literature, we were unable to find any reported cases with the use of cholangioscopy in a pediatric patient to date.

We also identified two interesting findings; a biliary web remnant and a high insertion of the pancreatic duct into his CBD. Biliary webs are rare and previously diagnosed on imaging via ERCP or MRCP. Our patient has only a biliary web remnant but might result in impaired biliary drainage and serve as a nidus for stone formation. In regards to the high insertion of the pancreatic duct, this is a novel finding. We theorize that this may play a role in his increased episodes of choledocholithiasis and place him at risk for additional episodes of acute pancreatitis.

The use of the cholangioscopy resulted in the identification of our patient’s biliary web remnant and allowed for direct visualization of his high insertion pancreatic duct allowing for improved evaluation and treatment of our patient. This technique should be considered in appropriately sized pediatric patients with recurrent episodes of choledocholithiasis.

 

906  UNSEDATED IN OFFICE TRANSGASTROSCOPY ESOPHAGOSCOPY (TGE) TO MONITOR THERAPY IN EOSINOPHILIC ESOPHAGITIS

Caroline Hall1,2, Nathalie Nguyen1,2, Jeremy Prager1,2, Emily Deboer1,2, Robin Deterding1,2, Calies Menard-Katcher1,2, Glenn Furuta1,2, Kelley E. Capocelli1,2, Krystal Mesenbrink1, Clinton Smith1, Robert E. Kramer1,2, Joel A. Friedlander1,2, 1Children's Hospital Colorado, Aurora, CO, 2University of Colorado School of Medicine, Aurora, CO, USA

Background: Monitoring the clinical activity of eosinophilic esophagitis (EoE) is costly and requires various forms of esophagoscopy to detect histopathologic changes of the esophagus after therapy changes. A recent study reported the successful use of in office unsedated transnasal esophagoscopy (TNE) to monitor EoE1. This was found to be safe, well tolerated, and less costly. Many patients with EoE and other esophageal inflammatory conditions have gastrostomy access. Therefore, we hypothesized that retrograde esophagoscopy via gastrostomy, here coined as Transgastroscopy Esophagoscopy (TGE), is feasible in an outpatient clinic setting and would similarly be safe, less costly, and effective.

Methods: Four subjects with EoE between 9/2015 and 5/2016 between the ages of 3-20 years in need of endoscopic evaluation were offered unsedated esophagoscopy via gastrostomy as an option over the currently used unsedated TNE. Informed consent was obtained. The subject’s family was present during the procedure. The TGEs occurred in an outpatient clinic room. The subject’s gastrostomy tube was removed and 2 sprays of 4% lidocaine were sprayed around the site. The Olympus N180 gastroscope (4.9 mm diameter with 2 mm biopsy channel) was inserted through the gastrostomy and advanced retrograde into the esophagus. Subjects then underwent esophagoscopy and standard esophageal biopsies were obtained (3 distal, 3 proximal biopsies, and if indicated, gastric biopsies). Significant adverse events and biopsy findings were recorded. Approximate time in office was noted.

Results: Four subjects (3, 4, 10, and 20 years old) underwent 5 TGE. Subject 1 had EoE and liver transplant; Subject 2 had EoE; Subject 3 had EoE, cardiac transplant, and Nissen fundoplication; Subject 4 had EoE with severe feeding dysfunction and bipolar disorder. All subjects had a 14 French Gastrostomy tube. Each subject tolerated the procedure with no significant adverse events. Similar to TNE, chest discomfort, sporadic cough, and gagging occurred that did not necessitate cessation of procedure. Biopsies were adequate for evaluation. Subject 1 had <15 eosinophils/ high power field (eos/HPF) with lamina propria fibrosis. Subject 2 and 3 were in histologic remission with 0 eos/HPF. Subject 4 underwent 2 TGEs that both showed <15 eos/HPF. Average time in office was 1 hour per procedure.

Conclusions: TGE was well-tolerated, feasible, and provided effective histological evaluation of eosinophilic esophagitis. In office TGE should be considered in patients with a gastrostomy tube who need esophagscopy to evaluate EoE and other esophageal abnormalities. Further research is needed to improve the technique, assure safety, and provide optimal patient comfort and experience.

1. Friedlander JA, Deboer EM, et al. Unsedated transnasal esophagoscopy for monitoring therapy in pediatric eosinophilic esophagitis. Gastrointest Endosc. 2016 Feb. 83(2) 299 - 306.e1.

 


907  COLITIS AND FISTULA IN A NEONATE

Chickajajur Vijay, Charles Chen, West Virginia University Medicine, Morgantown, WV, USA

A 17-day-old, previously healthy, full-term baby boy was admitted to the hospital with a perianal abscess. His mother reported that she had noticed the abscess the previous day. She reported that he had been tolerating his feeds well and denied any fevers or recent illnesses. On exam, a 1-1.5 cm erythematous pustule with a 2-2.5 cm induration was noted on the right perianal surface with purulent drainage. The rest of the exam was unremarkable. Complete blood count and C-reactive protein were both within normal limits. An ultrasound of the affected area showed an indurated, hyperemic right perirectal abscess measuring 1.3 x 1.5 cm. Pediatric surgery was consulted, and on the day of the surgery, mother reported blood stained stool that had not been present before. During drainage of the abscess, rigid proctoscopy revealed dark red blood in the rectum arising from the colon. The abscess cavity was noted to have a right lateral fistula connecting to the anus above the dentate line. A fistulotomy was subsequently performed. Given the amount of blood in the rectum, endoscopy and colonoscopy were performed by the Pediatric Gastroenterology team. The endoscopy was unremarkable while the colonoscopy revealed an area of friable and ulcerated mucosa in the ascending colon that extended to the cecum and an edematous and nodular descending colon. Biopsy showed active colitis in the right colon with features suggestive of ischemic colitis. Prothrombin time and partial thromboplastin time were within normal limits. After discussion with a hematologist, it was felt that there was a low probability of an underlying hematological disorder.

The patient had been exclusively breastfed since birth and mother drank cow’s milk at home. It was felt that his findings were possibly due to cow’s milk protein allergy. We recommended that the mother eliminate cow’s milk from her diet. He continued to do well clinically and was discharged home on antibiotics for the abscess. At one week follow-up, he did not have any further rectal bleeding and was gaining weight appropriately. The patient continues to follow-up with a pediatric gastroenterologist.

Discussion: The presence of both colitis and a fistula in a neonate is a unique finding. During our literature review, we did not come across any cases where colitis in the ascending colon with fistula formation was reported in a patient of this age. Cow’s milk protein allergy is a common etiology of non-infective colitis in neonates, often presenting with diarrhea or bloody stools in an otherwise well-appearing patient. Patients often improve clinically after elimination of cow’s milk products from the maternal diet. Although inflammatory bowel disease in neonates is extremely rare, the diagnosis cannot be excluded. However, the lack of symptoms such as diarrhea and failure to thrive in this patient pointed away from this diagnosis.

 

908  PEDIATRIC GASTRIC XANTHOMA: A RARE FINDING ON UPPER ENDOSCOPY

Claudia Phen, Michael Wilsey, Racha Khalaf, Sara Karjoo, Will Chamizo, Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA

Gastric xanthomas are rare mucosal lesions that can be found when evaluating patients for epigastric pain or nausea. Xanthomas can occur anywhere along the gastrointestinal tract but are most commonly found within the stomach as solitary or multiple lesions. Xanthomas have a yellow-white, plaque-like appearance on endoscopy. They are thought to be benign but are often mistaken for gastric ulcers or tumors based on appearance. Microscopic evaluation reveals the characteristic pattern of abundant foamy histiocytes in the lamina propria and an absence of nuclear atypia. The underlying etiology of gastric xanthoma is not entirely clear. Only a few pediatric and adult cases have been reported. Xanthomas appear to be associated with gastric mucosal inflammation, Helicobacter pylori infection, dyslipidemia, atrophic gastritis, and at times malignancy.

In this clinical vignette, we present the case of a 10-year-old male seen in pediatric gastroenterology clinic for evaluation of chronic upper abdominal pain and nausea. His past medical history was notable for prematurity at 32 weeks gestation, Tourette syndrome, Attention deficit hyperactivity disorder, anxiety, and an appendectomy. The patient’s weight plots at the 85th percentile. The remainder of his physical examination, including abdominal examination, was normal. The patient’s work-up, including barium swallow study and stool Helicobacter pylori antigen was negative, and Omeprazole provided no symptom alleviation. Endoscopy revealed mild, nonspecific esophagitis and gastritis, and a polypoid lesion near the antrum. The lesion was pale tan and measured three mm in diameter with mucosal change at the tip of the lesion. Histology revealed patchy areas of expansion of the lamina propria by clusters of pale-staining foamy histiocytes, leading to diagnosis of gastric xanthoma.

Our patient’s case demonstrates the importance of prompt recognition of gastric xanthoma. In the absence of other etiologies, endoscopic and histologic evaluation is necessary. Once diagnosis is established, the lesion warrants further investigation given the possibility of malignancy. Although treatment may not be required, the lesion should be monitored to further elucidate its characteristics. Our case illustrates that gastric xanthoma is a clinical entity that can be seen in children without associated risk factors and is one that ought to be included on differential diagnoses for chronic nausea and upper abdominal pain.

 

909  ANOMALOUS PANCREATICOBIIARY DUCTAL JUNCTION IN A PEDIATRIC PATIENT MANAGED WITH ENDOSCOPIC RETROGRADE CHOLANGIOPANCREATOGRAPHY.

Farouk Jiwani, Dana Moffatt, Jennifer Griffin, University of Manitoba, Winnipeg, MB, Canada

Background: Anomalous Pancreaticobiliary Ductal Junction (APBDJ) describes abnormal anatomy of the union of the pancreatic and biliary duct outside of the duodenal wall. It is a rare congenital anomaly where the pancreatic and biliary duct form a long common channel greater than 15mm. There are two types of APBDJ described; right angle type, where the common bile duct (CBD) appears to join the pancreatic duct, or the acute angle type, where the pancreatic duct appears to join the distal CBD. APBDJ can be asymptomatic or can lead to acute pancreatitis, chronic pancreatitis or complicated choledocholithiasis. It has also been associated with choledochal cysts and cholangiocarcinoma.

Aims: To describe the use of ERCP in a pediatric patient with APBDJ.

Methods: A retrospective chart review of a five-year-old male found to have APBDJ. The patient had two episodes of acute pancreatitis and hepatitis within a 1-year span. On his first presentation, he had elevated liver enzymes and lipase. His ultrasound (US) showed gallbladder thickening but no duct dilation or evidence of cholelithiasis. With his second episode, he presented with abdominal pain, anorexia, nausea and vomiting. He had normal bowel movements and no infectious symptoms or travel history. Family history was unremarkable. The patient was otherwise healthy not taking medications, supplements or vitamins. Bloodwork revealed elevated liver enzymes and lipase. Ultrasound showed both intra and extrahepatic dilation of the bile ducts and dilation of the pancreatic duct. His magnetic resonance cholangiopancreatography (MRCP) revealed a common channel between the CBD and pancreatic duct that measured 2cm and the pancreatic duct arose from the distal CBD, which is suggestive of an acute angle type of APBDJ. Choledocholithiasis was also suspected within the common channel.

Results: The patient underwent an ERCP for further assessment and management. ERCP confirmed that the patient had acute angle APBDJ, with multiple stones in the common channel extending into the bile duct and pancreatic duct. Therapy involved a large major papilla sphincterotomy up to the base of the CBD, separating the orifices of the biliary and pancreatic ducts. The stones were removed with balloon extraction. No complications occurred with the ERCP. The patient has been asymptomatic since the procedure.

Conclusions: APBDJ is an anatomical anomaly that predisposes our pediatric population to a variety of complications such as acute pancreatitis and gallbladder carcinoma. This case demonstrates that APBDJ can be successfully managed by ERCP. It is important to be aware of APBDJ as a cause of “idiopathic pancreatitis”, and that proper identification and treatment of this disorder may prevent future complications.

 

910  WIRE GUIDED CANNULATION FACILITATES ENDOSCOPIC MANAGEMENT OF BURIED BUMPER SYNDROME: A NOVEL APPROACH

Alex Wilsey1, Michael Wilsey2, 1Florida State University, Tallahassee, FL, USA, 2University of South Florida - College of Medicine, St. Petersburg, FL, USA

Introduction: Buried bumper syndrome (BBS) is an uncommon complication of PEG placement, occurring in up to 1% of pediatric patients. Typical manifestations include leakage, blockage, immovable tube, abdominal pain, or local erythema. Common approaches for treatment include parallel placement of a second PEG tube or surgical removal of buried PEG tube. Less commonly is a technique applied that allows for salvage of the existing PEG tube site, such as pull-type or balloon replacement. These techniques frequently require dilation of fistula prior to placement of new tube, which increases trauma to an already damaged tract.

Case Report: Our patient presented three years after percutaneous endoscopic gastrostomy (PEG) tube placement with difficulty flushing and PEG-tube site pain. There was concern for buried bumper syndrome given the external bulge at the gastrocutaneous fistula site and apparent migration of the external portion of the PEG tube. An EGD revealed an endoscopic bulge at the fistula site, identified as the internal bumper embedded within the fistula tract. External portion of PEG tube was cut and removed near the level of the skin, allowing passage of a guide wire through the foreshortened PEG tube in a retrograde fashion. This technique achieved cannulation of the fistula track from an external approach, thereby preserving fistula patency. External traction was applied to remove the buried PEG tube flange without significant complication, and successful [re]placement with a 14F 1.7 cm Mic-Key button over the guide wire was achieved. A KUB revealed no free air, and the patient was discharged home.

Conclusions: A variety of methods have been used in treatment of buried bumper syndrome, each with different advantages and challenges. By employing a guide wire, as was successfully demonstrated here, one can limit the mechanical trauma caused by blind replacement of the PEG tube through a weakened tract.

 

911  A CASE OF EOSINOPHILIC GASTROENTERITIS HAS ENDOSCOPIC FEATURE AND SYMPTOMS LIKE AS EOSINOPHILIC ESOPHAGITIS

Kun Song Lee, Won Ae Lee, Dankook University College of Medicine, Cheonan-si, Chungnam, South Korea

Background & Aims: Eosinophilic gastroenteritis (EG) is a rare disease that describes a symptoms attribute to the GI tract with pathologic infiltration by eosinophils. The stomach and small intestine are the common lesions of involvement. Though esophageal involvement of eosinophil can be associated with EG, there have been no reports that the only endoscopic feature like as eosinophilic esophagitis (EoE) were present.

Methods: A 33-month-old girl presented with more than 10 times non-bilious vomiting and epigastric pain for two weeks. The parents had asthma history. There was no developmental delay and failure to thrive. White blood cell count was 9,660/µl with 13% of eosinophil and total eosinophil count was 1,200/µl. There was no history of drug intake, parasite infection, and hematologic problems. She had tested positive for house dust mites, milk, and egg in skin prick test. We performed esophagogastroduodenoscopy for evaluating the reasons of vomiting.

Results: The endoscopic gross finding of stomach and duodenum were normal. However, it was found out that the appearances of esophagus were mucosal furrows, whitish plaques, and mucosal friability. The histologic finding of esophagus was shown more than 50 eosinophils/HPF and microabscess. Even though the gross finding of stomach and duodenum was normal, the histologic finding of stomach body and duodenum were more than 100 eosinophils/HPF and 40 eosinophils/HPF respectively. The SNP of eotaxine-3 gene, “2,496 T>G”, was known in EoE. However, she had wild-type gene of eotaxin-3. At first, we made a diagnosis of EOE in consideration of endoscopic features and symptoms. After we found out the histologic findings of stomach and duodenum, we finally diagnosed with EG.

Conclusions: It was a rare experience that we could make diagnosis of EG. The EG which was shown the gross appearance like as EoE had no gross abnormality of stomach and duodenum with being accumulated of many eosinophils.

Keywords: Eosinophilic gastroenteritis, Eosinophilic esophagitis

 

912  PATCHY DISEASE WITH DENUDED MUCOSA

Laetitia-Marie Petit, Valérie A. McLin, Departement de l'Enfant et de l'Adolescent, Geneva, Switzerland

A 27-month-old boy presenting with diffuse edema was referred for suspected protein losing enteropathy. History was remarkable for recurrent upper airway infections, growth failure for one year without diarrhea. On physical exam the child was pale with diffuse edema and his abdomen was soft and non-tender. Laboratory results revealed hypogammaglobulinemia (total IgG 0.98g/L, N 3.7-11.7g/L), hypoalbuminemia (12g/L), elevated fecal calprotectin (975mg/kg) and increased 1 antitrypsin in stool. There was no proteinuria nor evidence in favor of inflammatory bowel disease. Oesophagogastroduodenoscopy and colonoscopy performed following oral fat loading (with butter) were macroscopically unremarkable, and there was no evidence of lymphangiectasia. Histopathology was remarkable for increased eosinophils in the mucosa throughout the GI tract, with degranulation of the eosinophils, but no real infiltration in the epithelium. Video-capsule endoscopy (VCE) revealed numerous, actively bleeding linear ulcers alternating with pale zones throughout the small bowel, suggesting villous atrophy.

Given the age of the patient, the presentation, the intense mucosal eosinophilic infiltrate, and the atrophic mucosa on VCE, we concluded that the findings were most compatible with Food Protein Induced Enteropathy Syndrome (FPIES). Although villous atrophy typically suggests celiac disease; the difference here was the presence of mucosal eosinophilia and preserved villous architecture on the samples. The protein and blood loss in the stool is also typical features of FPIES that is typically managed through a strict elimination diet. After six months without soy and milk exposure, the patient has normalized both blood and stool parameters and linear growth has resumed with 1 year of follow-up.

This case illustrates the previously unreported role of VCE in small children in the diagnosis of atypical FPIES. Like celiac disease, FPIES is a patchy disease. Without VCE diagnosis would have remained uncertain given the macroscopic and histological findings. The age of presentation opens a broad spectrum of causes for the disease and invites the physicians to a large work-up. Very early onset Crohn’s disease could also be evocated, but without perianal lesions nor immune deficiency and with this great response to the elimination diet, this diagnosis does not persist. Given the severity of the presentation and absence of lymphangiectasia on endoscopy, further investigations were warranted. VCE can be an important diagnostic tool and should be proposed to help diagnosis in small children > 15 kg.

 

 

913  ISOLATED INTESTINAL NEUROFIBROMA IN A PEDIATRIC PATIENT

Rachel Herdes, Rami Arrouk, Patricio Arias, LSU Health Sciences Center New Orleans, New Orleans, LA, USA

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that causes the characteristic development of benign nerve sheath tumors called neurofibromas. Classically, these tumors are found cutaneously, but up to 25% of affected patients have some degree of gastrointestinal involvement. Single, isolated intestinal neurofibromas without the presence of other clinical manifestations is extremely rare. We present the case of a 13-year-old Caucasian male found to have an isolated diffuse neurofibroma in the transverse colon during a surveillance colonoscopy for a prior history of juvenile polyps. He presented with no other systemic symptoms and was found to have no other NF1 manifestations at a subsequent genetics evaluation. Pathology of the colonic polyp found proliferative spindle cells and histological staining was positive for S100, both which are consistent with a diffuse neurofibroma. The polyp was unable to be removed during colonoscopy secondary to broad base structure.

Our patient represents to our knowledge and review of the literature the first reported pediatric patient to have a solitary, intestinal diffuse neurofibroma without additional clinical manifestations of NF1. Prior adult cases have suggested that patients identified with isolated GI neurofibromas should be monitored closely with frequent comprehensive physical exams for the development of neurofibromatosis, MEN2b and/or malignant transformation of the polyp. Treatment of isolated intestinal neurofibromas is dependent upon the location and size of the lesions. Larger lesions may require resection to prevent or treat intestinal obstruction, impingement and abdominal pain. Our patient's polyp was unable to be removed via polypectomy, which bolsters the question of resection vs. monitoring in a pediatric patient with potential for malignant transformation or impending gastrointestinal complications.

 

914  AN UNFORSEEN CAUSE OF PNEUMOPERITONEUM POST PERCUTANEOUS ENDOSCOPIC GASTROSTOMY TUBE PLACEMENT

Rasha Adel Elmaoued, Jacqueline Fridge, Kalyan Ray Parashette, University of New Mexico School of Medicine, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Albuquerque, NM, USA

Introduction: The placement of a percutaneous endoscopic gastrostomy (PEG) tube is a very common and simple procedure. Although deemed generally safer than surgical placement of a gastrostomy tube, potential complications include pneumoperitonium, which can have an over 50% incidence, making it necessary to identify risk factors for this complication. This can be due to air escaping from the stomach between initial needle puncture and PEG insertion, insufficient fixation of the PEG causing air to leak through the gastric wall and into the peritoneal space, and bowel perforation.

Case Description: A four-year-old girl with Rett’s syndrome was seen in the pediatric gastroenterology clinic with oral aversion and feeding problems. Her oral skills had regressed significantly. Over several months she began to prefer to eat pureed foods and liquids only. As a result her weight gain was minimal and she remained under the 3rd percentile for age. She was evaluated by a feeding therapist for coughing and gagging with all oral feeds. An upper GI barium study was done in preparation for a PEG tube procedure showing normal anatomy. We determined that she was a good candidate for this procedure. She underwent the PEG procedure and was hospitalized overnight. She soon developed a distended abdomen that was taut and mildly tender on exam. An abdominal x-ray showed a large pneumoperitonium (Figure 1A). An abdominal CT scan confirmed this but did not show perforation of the intestines or interposed colon between the stomach and abdominal wall (Figure 1B). After conservative management that included bowel rest and G tube venting, she became clinically better and the pneumoperitoneum improved (Figure 1C). A day later it returned after G tube venting was stopped. We noted that she swallows a large amount of air while awake. It once again resolved with G tube venting. She was discharged home with instructions to continue to vent the G tube multiple times a day. She responded well with full recovery after a few weeks and demonstrated improved weight gain, such that her weight percentile had increased from the 1st to the 7th.

Case Discussion: This case demonstrates that although pneumoperitoneum often occurs due to air leakage from needle puncture or bowel perforation, it can also be seen in patients with aerophagia. In this case, we found that aerophagia, commonly seen in infants and children with developmental delay, can lead to massive pneumoperitoneum post PEG tube placement. Therefore, we feel that potential candidates for PEG tube placement should be screened for aerophagia. The complication can be managed conservatively with venting of the G tube.

A  B  C

Figure 1: A: Left lateral decubitus abdominal film showing a large pneumoperitonium post PEG tube placement.

B: CT of the abdomen confirming this and showing the PEG tube in place.

C: Left lateral decubitus abdominal film showing a decrease in the size of the pneumoperitoneum after venting of the PEG tube.

 

915  TWO CASES OF A RARE INTESTINAL VASCULAR MALFORMATION

Roopali Mittal, Marilyn Steele, John Grunow, University of Oklahoma Health Sciences Cente, Oklahoma City, OK, USA

Introduction: Lower GI Bleed (LGIB) refers to bleeding distal to the ligament of Treitz. Common causes include anal fissures, Meckel's diverticulum, Infectious colitis, Juvenile polyps, Hemorrhoids and inflammatory bowel disease. Vascular malformations and Hemangiomas of the gastrointestinal (GI) tract are rare cause of (LGIB).

Case Presentation: We present two cases of lower intestinal vascular malformation.

The first is a five-year-old male, without an identified cause for his recurrent GI bleeding, who had undergone four colonoscopies at an outside institution. Colonoscopy at OUSHC revealed altered vasculature and erythematous, inflamed and congested mucosa in anorectal area. MRI showed venolymphatic malformations of distal sigmoid colon and rectum.

The second case is a three-year-old female who presented with history of rectal bleeding and anemia. Colonoscopy at OUHSC at 18 months of age was unremarkable. Repeat colonoscopy one year later showed congested and erythematous rectal mucosa. Pathology was consistent with vascular malformation. MRI revealed venolymphatic malformations of distal sigmoid colon and rectum.

Discussion: Common presentation of vascular malformation is painless GI bleeding, abdominal pain and iron deficiency anemia and often leads to misdiagnosis as ulcerative colitis or hemorrhoids. Vascular malformations are embryological defect in which endothelial channels lack smooth muscle, leading to expansion of the malformation over time from hydrostatic pressure. Vascular malformation can occur anywhere along the intestinal system, with small bowel as the most frequent site. Despite being present at birth, age of definitive diagnosis ranges from infancy to late adulthood due to repeated misdiagnosis. GI vascular malformations can be isolated entities, or can be associated with syndromes like Osler-Rendu-Weber syndrome. Complete surgical resection is the treatment of choice for vascular malformations. Banding, sclerotherapy and suture ligation techniques are other options but residual malformations can result in reexpansion and rebleeding.

In conclusion, a high index of suspicion is needed to diagnose vascular malformations in patients presenting with recurrent GI bleeding as misdiagnosis is very common. Continued study of these patients following surgery is needed to determine long-term efficacy of therapy.

 

916  COLONIC LYMPHOMA PRESENTING AS ABDOMINAL PAIN

S Zavoian, R. D. Baker, R. Kozielski, S. Choudhury, SS Baker, University at Buffalo, Buffalo, NY, USA

Primary lymphoma of the colon is a rare tumor of the gastrointestinal tract representing 0.2-1.2% of all colonic malignancies. The clinical presentation can be insidious, the tumor rarely involves the large intestine and it typically presents in adult males. Here we present an unusual case of a primary colonic lymphoma.

A 16 yo female was referred to the GI clinic for abdominal pain. The pain was located in the right lower quadrant and periumbilical area, was present for 3 months and was described as cramping and burning. She lost 8 pounds over this time. Physical examination was remarkable for her malnourished state; BMI Z-score was -3.63. The abdomen appeared distended and there was moderate tenderness in the right lower quadrant. Prior to referral an ultrasound and exploratory laparoscopy showed no GI abnormalities. At the GI evaluation a CT scan was ordered and was reported as suspicious for colitis. A colonoscopy showed an area of narrowing and a submucosal mass. Histological analysis of colonoscopic biopsies taken from the mucosa overlying the mass was consistent with B-cell Non-Hodgkin lymphoma. Subsequent laparoscopic lymph node biopsy from the gastric greater curvature confirmed the diagnosis and further characterized it to CD20+diffuse large B-cell lymphoma. Iliac crest bone marrow biopsy and cerebrospinal fluid cytology were negative for Non-Hodgkin lymphoma.

Abdominal pain is one of the most common reasons for referral to a GI clinic. While the list of differential diagnoses can be extensive, the most common reason for abdominal pain is functional. However, serious disease, such as inflammatory bowel disease, tuberculosis, eosinophilic gastroenteritis among others must be considered. In this case, the malnourished state, the recent weight loss and the location and characteristics of the pain were a trigger for further investigation. Unusual diagnoses should be considered even with common signs and symptoms. Endoscopic evaluation is instrumental in diagnosing luminal and mucosal disease of the GI tract and it can be useful in diagnosing rare conditions such as colonic lymphomas.

 

917  ESOPHAGEAL EOSINOPHILIA ASSOCIATED WITH FALSE POSITIVE TTG

Meshari Al-Aifan, Vishal Avinashi, British Columbia Children's Hospital, Vancouver, BC, Canada

IgA-Tissue transglutaminase (tTG) is widely used as a screening tool for celiac disease. It is frequently described as both sensitive and specific even to the point where under certain conditions, biopsies can be omitted.

Cases of false positive tTG have been described in different conditions including infectious, such as giardiasis, immune (such as increased IgA or lymphoma), chronic liver disease, and rheumatologic (1). Also inflammatory and auto-immune conditions such as Crohn’s disease are felt to logical causes of increased tTG.

In this small series, we present three cases of patients who are presenting with high tTG (at least 4 x ULN) and after undergoing endoscopy and biopsies to rule out celiac disease, histology reveals no abnormal duodenal findings (normal mucosa, villi and no infiltrative cells) but only increased eosinophils in the esophagus. These three patients did not exhibit classic esophageal symptoms which does not perfectly lend itself towards a diagnosis of Eosinophilic Esophagitis, plus they were not put on PPI to ensure it is not PPI-REE.

While a relationship between active celiac disease and esophageal eosinophilia has been described in both children and adults (2,3), these three patients do not have suggestions of celiac disease.

While an infectious etiology could be theorized for the above patients, none had fever, infectious contacts, travel histories, diarrhea, recent antibiotic use, or an acute illness. Two of the three patients had eczema, however these remained active issues even after the GI symptomatology resolved.

In follow-up, while none of the patients underwent repeat endoscopy, their tTG levels have continued to decrease for those who had it measured, and the symptoms had significantly improved.

Further descriptions regarding esophageal eosinophilia and tTG are necessary to better understand their relationship.

Table

 

HEPATOLOGY

 

952  ASSESSMENT OF LIVER FIBROSIS BY NON-INVASIVE TRANSIENT ELASTOGRAPHY IN CHILDREN WITH SICKLE CELL ANEMIA: CROSS-SECTIONAL PILOT DATA

Amanda C Fifi, Lesley Smith, Ofelia Alvarez, Vanessa Cumming, Maria Rodriguez, University of Miami, Miami, FL, USA

Introduction: Transient elastography (TE) has been used successfully in adults as a non-invasive tool to assess liver fibrosis. Currently trichrome-stained liver biopsy remains the gold standard for evaluating fibrosis in children. This presents obvious clinical dilemmas in pediatric patients at risk for liver fibrosis and as such non-invasive methods are currently being sought out. Children with sickle cell anemia (SCA) on chronic transfusion therapy are at risk of liver disease from iron overload, which has been shown to cause cirrhosis after just 7 years of transfusions in patients with thalassemia. The natural history of liver disease in pediatric patients with SCA on chronic transfusions is not well-described. Non-invasive tools to evaluate fibrosis using aspartate aminotransferase-platelet ratio (APRI) and transient elastography (TE) may provide alternate means for assessing these patients.

Objectives: We aimed to compare (1) TE measures and (2) aspartate aminotransferase-platelet ratio index (APRI), as non-invasive surrogate markers for hepatic fibrosis in pediatric SCA patients determined by percutaneous liver biopsy.

Methods: Children with SCA were eligible if serum ferritin was >1000 ng/mL, and excluded if diagnosed with other chronic hepatic disease (e.g. Hepatitis B or C). We collected liver function tests, platelet counts, liver biopsies, and TEs. Hepatic fibrosis was scored using the Metavir system. We compared TE with each measure of liver function.

Results: Nine children (6 males, 3 females), ages 11-21 years (mean 15.9 years), were transfused over an average of 9 years, and had a mean serum ferritin of 5263±2641 ng/mL (range 1615-8624 ng/mL). Mean APRI was 0.36±0.17 (0.12-0.59). TE demonstrated liver stiffness measures (LSM) ranging from 3.4-13.5 kPa, mean 8.08±3.87 (expected normal less than 7 kPa). Comparison of LSM to histological fibrosis by t-test revealed t 4.50, p 0.001. Comparison of APRI scores to histological fibrosis revealed t 1.34, p 0.11. Comparing APRI to LSM yielded a Pearson correlation coefficient r 0.47, p 0.20. Serum ferritin was significantly correlated with LSM r 0.80, p 0.01.

Conclusion: Fibrosis on liver biopsy had a strong positive correlation with TE but APRI did not. Serum ferritin correlated to TE suggesting that patients with higher circulating iron are at higher risk of fibrosis. Although the small sample size limits generalizability, these data suggest that TE may be a quick, reliable measure of liver fibrosis in iron-overloaded patients with SCA. We postulate that TE may also be useful for monitoring for fibrosis in a range of other liver pathologies in pediatric patients (e.g. hepatitis B, C, and steatosis).

 

953  A RARE CASE OF A 2-YEAR-OLDBOY WITH ALAGILLE SYNDROME AND TYPE 3 HEREDITARY HEMOCHROMATOSIS WITH A TFR2 MUTATION

Sravan Matta, Bernadette Vitola, Medical College of Wisconsin, Milwaukee, WI, USA

Introduction: Type 3 hereditary hemochromatosis (HH) is a rare autosomal recessive disorder caused by mutations in the transferrin receptor 2 (TFR2) gene leading to tissue iron overload. To date, very few cases of HH with TFR2 mutations have been reported worldwide. Most patients were adults and had symptomatic onset of disease at the time of diagnosis. We report a case of a two-year-old male with Alagille syndrome and Type 3 HH with a homozygous TFR2 mutation.

Case: A 2 y/o Hispanic child with Alagille syndrome with a JAG 1 mutation, renovascular hypertension, bicuspid aortic valve, peripheral pulmonary stenosis, short stature, failure to thrive, s/p jejunal resection for recurrent necrotizing enterocolitis, and short gut (100 cm) was transferred to the Hepatology clinic at a tertiary care children’s hospital. He was weaned off of TPN and was on high MCT formula feeds. His mother, brother, and sister also have Alagille syndrome with JAG 1 mutations but with milder phenotypes. On routine labs in 2012, iron studies were high with a ferritin 121(N 10-60 ng/ml), serum iron 206 (N 44-142 ug/dl), iron saturation 78% (N 13-45%). On serial monitoring in 2014, iron studies were rising with a ferritin 1830, serum iron 405, iron saturation 106%. Transaminases and bilirubin were elevated but not rising. Due to persistent iron elevation, we had concern about exogenous iron source unrecognized by family. We tested the 3 siblings and they had normal iron studies. We then tested for HFE and HAMP mutations but none were found. Additional testing demonstrated a positive mutation in TFR2 (Novel homozygous mutation in highly conserved region C.1409G>T (p.Ser470Ile)). Liver biopsy (3/2014) showed paucity of bile ducts, hepatocellular cholestasis, moderate hepatocellular and Kupffer cell iron deposition, bridging fibrosis and hepatic iron content 5677 (N 200-2400 mcg/gm). Cardiac MRI (2/2014) showed low T2 signal indicating cardiac iron overload. Cardiac ECHO (3/2014) showed normal ventricular function. Port was placed and started phlebotomy 5 ml/kg/wk. His ferritin increased (1790 to1830 ng/ml). We increased phlebotomy to 6 ml/kg/wk and started oral chelation with Exjade. Ferritin trended down from 1790 ng/ml (3/2014) to 16 ng/ml (11/2014). Exjade was discontinued. He continued to have weekly phlebotomy until 11/2014. On stopping phlebotomy his serum ferritin and serum iron trended up. Phlebotomy was restarted but only monthly and daily Exjade restarted. Cardiac MR1 (3/2015) showed improved T2 signal in the heart. A repeat liver biopsy (3/2015) showed hepatic iron content decreased to 448 mcg/gm. MR liver ferri scan analysis (4/2016) showed normal values of hepatic iron. His most recent serum ferritin is normal 28.1 ng/ml, but serum iron 496 ug/dl, and iron saturation 101% remain elevated (5/2016). We continue to work with Hematology to optimize his management with phlebotomy and chelation.

 

954  NODULAR REGENERATIVE HYPERPLASIA OF THE LIVER: DIAGNOSTIC HETEROGENEITY

Chiara Biaggi, Lesley Smith, Patricia Delgado, Claudia Rojas, University of Miami, Miami, FL, USA

Introduction: Nodular regenerative hyperplasia (NRH) of the liver is an uncommon condition characterized by benign diffuse transformation of normal hepatic parenchyma into small, regenerative nodules with little to no fibrosis. It occurs in systemic diseases, including immunologic and hematologic conditions, portal vein and cardiac anomalies. The pathogenesis is uncertain, but vascular derangements have been described. Its prolonged asymptomatic period leads to a delay in diagnosis often leading to complications of portal hypertension. Treatment is directed at the underlying cause, and supportive management of the complications of portal hypertension. We present 2 patients with NRH.

Case Presentations: The first is a 20-year-old female referred to us due to a previous episode of hematemesis. Clinical history revealed easy bruising, gingival bleeding, poor appetite and fatigue. There was a history of pancytopenia and splenomegaly since early childhood, investigated with three bone marrow aspirates, which were unrevealing. Physical examination revealed an underweight female, with a BMI of 17.5kg/m2. She had abdominal distension and palpable splenomegaly. Laboratories were significant for pancytopenia, normal liver enzymes, bilirubin level, and mild coagulopathy.

Liver MRI showed diffuse iron deposition in the liver, a nodular liver contour concerning for cirrhosis, and an enlarged spleen with mild diffuse iron deposition. Genetic testing for hemochromatosis was negative. An abdominal computed tomography (CT) revealed again a nodular liver, with findings of portal hypertension and perisplenic varices. An autoimmune hepatitis panel was ordered, and aside from a 1:40 titer of anti-nuclear antibody, all else was negative. There was also no evidence of alpha 1-antitrypsin (AIATP) mutation and normal ceruloplasmin level. An upper endoscopy and liver biopsy were performed, and no varices were seen. Liver biopsy revealed focal ballooning of hepatocytes, architectural disarray with nodularity, and no fibrosis. Both hemosiderin and copper staining were negative. Triple phase CT revealed partial thrombosis of two hepatic veins extending into the intrahepatic segment of the inferior vena cava, and hepatosplenomegaly, with gastric and splenic varices. She had a negative pro-thrombotic workup.

The second case is an eight-year-old girl who presented with elevated liver enzymes. She was clinically asymptomatic and had an unremarkable physical examination. Laboratory workup including autoimmune hepatitis panel, A1ATP mutation, ceruloplasmin, and hepatitis panel were all normal. Liver ultrasound with Doppler was unremarkable. Liver biopsy revealed hepatocyte collapse/atrophy and regenerative hyperplasia. Echocardiogram was unremarkable, and evaluations pending include immunologic and hematologic testing, and a CT triple phase of the liver for any vascular anomalies.

Discussion: The first case highlights the quiescent course of this clinical entity and the potential detrimental consequences. A thorough evaluation must take place, and Budd-Chiari syndrome must be included in the differential diagnosis. A presumed chronic loss in hepatocytes in zone 3 could be the potential stimulus for regenerative hyperplasia of liver cells in zone 1, in an effort to restore the functional capacity of the liver. The second scenario emphasizes the importance of a systematic evaluation in search of an etiology that if treated, may delay the progression of her liver disease.

 

955  GIANT CELL HEPATITIS WITH AUTOIMMUNE HEMOLYTIC ANEMIA TREATED SUCCESSFULLY WITH RITUXIMAB

J. Naylor Brownell, Jessica Wen, Andrew Wehrman, Children's Hospital of Philadelphia, Philadelphia, PA, USA

Background: Giant cell hepatitis with autoimmune hemolytic anemia (GCH with AIHA) is a rare, progressive disorder of infants and young children, often with an aggressive course that may lead to liver failure. Transplant is not an effective treatment and patients often require multiple immunosuppressive medications. Rituximab, a monoclonal antibody to CD-20 specifically targeting B lymphocytes, has been successfully used to treat AIHA. A small case series has demonstrated the effectiveness of rituximab in inducing remission in GCH with AIHA.

Case Description: A six-month-old healthy male born in the United States and living in India from three months of age presented with four weeks of diarrhea that initially improved with empiric antibiotics and zinc. He re-presented two weeks later with fussiness, jaundice and emesis. Initial workup in India was significant for anemia (Hgb 4.4), elevated transaminases (ALT 140), and conjugated hyperbilirubinemia (DB 3.7). He was transfused and treated for malaria without improvement, and repeat labs showed worsening indices including elevated LDH (1453) and ferritin (4735), worsening anemia with reticulocytosis (11%), cholestasis, coagulopathy (INR 1.4) and elevated transaminases (ALT 2796, AST 4086). Liver ultrasound showed hepatomegaly without ductal dilation. Hepatic autoimmune and viral studies were negative. Liver biopsy demonstrated giant cells and cholestasis, and bone marrow biopsy was normal. He was diagnosed with AIHA and treated with IVIG. He was transferred to the U.S. for a second opinion, and further testing revealed positive DAT, IgG3, warm autoimmune antibody, ANCA, ANA, anti F-actin, anti-LKM, and anti-SMA. IV steroids and IVIG continued to improve his anemia, cholestasis and hepatitis, and he was transitioned to oral steroids and azathioprine. All attempts to wean prednisone resulted in worsening cholestasis and hepatitis, so he was given 6 doses of rituximab. He then had normalization of liver function, liver enzymes, and no signs of hemolysis, a response that has since been sustained on azathioprine monotherapy.

Discussion: GCH with AIHA is caused by a humoral immune mechanism. Thus, the use of rituximab should be an effective therapy based on its B lymphocyte antagonism, and this case further strengthens this hypothesis. In both our case and the original series, patients have been successfully weaned off steroids, potentially preventing a number of complications related to their chronic use. Our case is another example of the efficacy of rituximab in the treatment of GCH with AIHA.

 

956  FEBRILE CHOLESTATIC JAUNDICE AS THE INITIAL FEATURE OF KAWASAKI DISEASE

Sana Merchant, Shilpa Sood, Keshawadhana Balakrishnan, Maria Fareri Children's Hospital, White Plains, NY, USA

We describe here a 10 year-old male with autism spectrum disorder who presented with 4 days history of fever upto 104F, with jaundice and dark-colored urine that was noted day prior to admission. Review of systems was positive for diarrhea of 2 days with intermittent generalized abdominal pain. Physical exam on admission was significant for scleral icterus and RUQ/epigastric tenderness, without rebound. He developed a desquamating rash in the groin by day 3 of admission. His physical exam was negative for conjunctivitis, lymphadenopathy, extremity edema or lip and oral cavity involvement. Labs at presentation are shown in Table 1. An extensive infectious, autoimmune and metabolic workup for cholestasis was negative. He has also had a MRCP that showed fatty liver with normal appearing gall bladder, and pancreatic divisum with mesenteric adenopathy. He persisted to have daily high grade fevers during hospitalization. On Day 2-3 of admission, he was noted to have peeling on the face and groin and a suspicion for Kawasaki disease was raised. An echocardiogram on day 4 of admission showed the right coronary proximal vessel was dilated followed by a fusiform aneurysm. On day 4 of admission treatment with IVIG was initiated followed by high dose aspirin and his fevers began to resolve by day 6 of admission .His abdominal pain resolved, but the desquamation spread to his trunk and palms and soles. Patient was discharged home to follow-up with Cardiology. Due to the atypical age and symptoms at presentation, a work up for cholestasis and hepatitis was pursued and it was not until admission day 3-4 that Kawasaki disease was entertained as a possible diagnosis. This led to a delay in treatment and worsening of his symptoms before therapy was started.

We conclude that atypical KD should be considered in the differential diagnosis of patients presenting with fever and cholestasis to avoid delay in treatment and development of cardiac complications.

 

957  INTRAHEPATIC CYSTIC LESIONS POST-KASAI IN BILIARY ATRESIA

Lay Queen Ng, Ying Lu, Division of Gastroenterology and Nutrition Steven and Alexandra Cohen Children’s Medical Center of NY, Northwell Health, Lake Success, NY, USA

A six-month-old full-term baby girl with biliary atresia diagnosed at age two months status post Kasai procedure on DOL 71 with unremarkable recovery course and normal bilirubin levels at 11 weeks post-Kasai presented with fever, irritability and emesis. Workup was significant for elevated bilirubin, and blood culture positive for E. coli at 10 hours of incubation, consistent with diagnosis of ascending cholangitis. The patient received a one-week course of IV antibiotics (initially Zosyn then Unasyn based on sensitivities) and subsequently transitioned to augmentin orally at hospital discharge with improved bilirubin, GGT and two negative blood cultures. Given bacteremia associated with cholangitis, patient was discharged with plans to complete additional two weeks of oral antibiotics. Two days post-discharge, patient presented with recurring fever and rash after taking augmentin, concerning for recurring ascending cholangitis and possible allergic reaction to augmentin. Patient was readmitted with elevated bilirubin, GGT and transaminases.Blood culture once again grew E. coli within 9 hours of incubation. The Infectious Disease team recommended starting IV ertapenem due to sensitivities and concern for allergy to cephalosporins as evident by rash when patient was on augmentin. MRI abdomen showed multiple hyperintense, small well-circumscribed collections measuring up to 7 mm in diameter in region of porta hepatis. The collections demonstrate peripheral enhancement on post-contrast imaging likely representing multiple small biliary cysts in the setting of cholangitis; however, small abscesses could not be ruled out. Interestingly, re-review of two prior abdominal ultrasounds from the initial admission did not show presence of intrahepatic cystic lesions. Given concern for rapid recurrence of bacteremia and cholangitis, a PICC line was placed for IV antibiotics and patient was discharged home with a four-week course of IV ertapenem followed by a two- week oral course of Cefpodoxime and Flagyl (based on sensitivities). The patient improved clinically. The CRP, hepatic panel and GGT all normalized during the antibiotic course. Repeat ultrasounds continued to show multiple subcentimeter cystic lesions in the region of the porta hepatis, unchanged in size even after completion of two antibiotic courses, making abscesses less likely. Presence of intrahepatic cystic lesions often poses a prognostic and therapeutic dilemma in post-Kasai biliary atresia patients given concerns for the association between cyst formation and recurrent cholangitis. The mechanisms of cyst formation are unclear and often felt to be secondary to fibro-obliterative and inflammatory processes of the duct and cirrhotic changes in the intralobular spaces. Intrahepatic cystic lesions can be differentiated into solitary cysts versus beaded biliary cysts, which are important prognostically given the association with recurrent cholangitis and possible eventual liver transplant.

 

958  DIFFUSE INFANTILE LIVER HEMANGIOENDOTHELIOMA

Melany Gaetani1, Nada Yazigi2, 1Medstar Georgetown University Hospital, Arlington, VA, USA, 2Medstar Georgetown University Hospital, Washington DC, USA

Introduction: Hepatic tumors account for approximately 5-6% of all intra-abdominal masses in the pediatric population. Infantile hepatic hemangioendothelioma (IHH) is the most common, benign, liver tumor in children. Though these tumors may spontaneously regress, in symptomatic patients exhibiting signs of deterioration, management remains unclear.

We report a case in an 8-week-old infant.

Case: The infant presented to the emergency room due to ongoing abdominal distension. The abdominal MRI demonstrated innumerable well defined liver lesions throughout liver parenchyma, largest measuring 4.0 x 3.8 cm, establishing the diagnosis of diffuse type, infantile hepatic hemangioendotheliomas. The subsequent, comprehensive, work-up showed no other system anomalies except for the expected hypothyroidism. She was treated initially with corticosteroids and propranolol was added shortly after as there was a 30% growth of the tumors in two weeks. She is listed for liver transplantation.

Discussion: Diffuse IHH describes a clinical condition with innumerable hepatic hemangioendotheliomas, often symptomatic, that requires treatment due to the high frequency of critical complications. Diagnosis is based on imaging characteristics. Treatment options include medical management, interventional radiology procedures and surgery when possible. In our patient, given the sheer number of tumors and the relatively restricted space for further growth, the decision regarding listing her for liver transplantation was made, while she remains on ongoing medical therapy.

 

959  PRIMARY SCLEROSING CHOLANGITIS AND AUTOIMMUNE HEPATITIS ARE ASSOCIATED WITH SICKLE CELL DISEASE

Orith Waisbourd-Zinman1, Katrina Loah2, Henry Lin1, Kathleen Loomes1, 1Children's Hospital of Philadelphia, Philadelphia, PA, USA, 2Connecticut Children's Medical Center, Hartford, CT, USA

Background: Sickle cell disease (SCD) is an inherited hemoglobinopathy associated with recurrent vaso-occlusion and chronic hemolysis, leading to complications in multiple organ systems. Hepatic and biliary tract involvement is commonly observed in SCD patients, such as hepatic crisis due to sickling, hemosiderosis or viral hepatitis from chronic transfusions and/or cholelithiasis due to chronic hemolysis. We recently diagnosed several SCD patients with autoimmune hepatitis (AIH) and/or Primary Sclerosing Cholangitis (PSC), prompting us to study this association and the natural history of these disorders in the setting of SCD.

Methods: Retrospective analysis of patients seen at the Children’s Hospital of Philadelphia from January 1, 2008 through August 31, 2015 with SCD and a diagnosis of PSC, AIH or PSC/AIH overlap. Data collected included demographic characteristics, liver biopsy results, serial liver biochemistries and imaging results (ultrasound, MRCP, ERCP).

Results: We identified seven patients, ages 5-17 (3 males and 4 females). All patients had liver biopsy and liver imaging (ultrasound and/or MRCP) that supported the diagnosis. Three patients had AIH, two patients had AIH/PSC overlap and two patients had PSC. All patients with a diagnosis of PSC (including patients with overlap) also had inflammatory bowel disease (IBD). All patients with AIH were treated with an anti-metabolite (azathioprine/6MP) and responded well with significant improvement in their liver enzymes. Three out of the 4 patients with PSC were treated with ursodiol. One patient with PSC underwent bone marrow transplant with subsequent improvement both in the IBD and PSC (previous symptomatic biliary stricture did not require any further stents). The other patient with PSC had compensated cirrhosis and a biliary stricture requiring stent placement, but mild IBD symptoms. One patient with AIH/PSC overlap had severe IBD and was on anti TNF therapy and budesonide with asymptomatic liver disease; the other patient with overlap had mild IBD and recurrent biliary strictures.

Discussion: Sickle cell hepatopathy is a well-known entity, though an association with PSC or AIH was previously described only in case reports. This is important as it is well known that SCD is a significant risk factor for poor outcome after liver transplant. Larger studies are needed to characterize this association, and to determine whether recurrent veno-occlusion in SCD contributes to the development of biliary strictures in patients with a concomitant diagnosis of PSC.

 


960  LYSOSOMAL ACID LIPASE DEFICIENCY:A SERIOUS METABOLIC AND VASCULAR PHENOTYPE, BEYOND THE LIVER DISEASE: ABOUT 4 CASES

Pierre Poinsot1,2, Noël Peretti1,2, S. Collardeau-Frachon3,2, A. Serusclat4,2, M. Di Filippo2,3, S. Charriere2,4, P. Moulin2,4, A. Lachaux1,2, 1Hopital Femme Mere Enfant, Lyon, France,2Hospices civiles de Lyon, Lyon, France,3Groupement Hospitalier EST, Lyon, France, 4Hôpital Louis Pradel, Lyon, France

Introduction: The lysosomal acid lipase deficiency (LAL D) is a rare genetic disease due to a LIPA gene mutation. The morbidity of LAL D is due to a severe fatty liver disease with early cirrhosis. Previously, statins were the standard treatment for LAL D to improve the severe dyslipidaemia but with no impact on hepatopathy. Recently, enzyme replacement therapy by Sebelipase alpha has shown hopeful evolution on lipid profile and liver disease. However, LAL D has to be considering as a global metabolic disease with a special need of global care. Indeed, the chronically association of hyperLDL and hypoHDL cholesterolemia induce an early atherosclerosis in addition to the liver morbidity. The aim of this work was to report 4 new pediatrics cases of LAL D with an extensive evaluation of metabolic, hepatic and vascular phenotypes and their consequences.

Methods: Four patients diagnosed and followed for a LAL D in a university pediatrics hospital was retrospectively described. Anthropometric data (weight, height, BMI) and laboratory data (acid lipase residual activity, LIPA gene mutations, liver and lipid profile, HOMA index) were collected from their medical files. Liver impact was assessed by non-invasive tests as Fibroscan® and Fibrotest® and confirmed on histopathological analysis of liver biopsies. Vascular impact was evaluated by carotid intima-media thickness (cIMT) assessment. Insulin-resistance was detected by fasted insulinemia and HOMA index calculation.

Results: The 4 cases of LAL D were from two families, with one boy (8.6 and 11 years old at diagnosis) and one girl in each (10.6 and 13 years old at diagnosis). Follow-up was performed during 8 and 5 years respectively in each family. All children received statins during the entire follow-up. Statins were started few months after diagnosis (9; 11.1; 11.7; 13.4 years old). Statins decreased the LDL cholesterol median value from 6.8 mmol/L (262 mg/dL) to 3.7 mmol/L (143mg/dL). Despite this treatment, all children had severe liver fibrosis (F3 [n=3]; F2 [n=1]) on non-invasive tests confirmed on histopathological analysis at the end of follow-up. All children had at least 2 pathologic measures of cIMT without improvement during follow-up. Moreover one of the children had developed a deleterious metabolic phenotype with obesity (BMI Z-score > 2 DS) and insulin-resistance (HOMA 3.08). This adverse profile was associated with higher median ALT (149 vs 98; 88; 61 UI/L) and higher median cIMT values (0.5 vs 0.47; 0.43; 0.43 mm). For this child, ALT were improved by a weight loss with normalization of his BMI.

Conclusions: LAL D is a rare metabolic disease with larger impact than the liver disease. One child with severe metabolic syndrome developed more serious and vascular disease. Our work shows the importance to extend the follow-up on a global metabolic view. In the future, it could be interesting to evaluate the cardiovascular impact of the new enzymatic treatment by Sebelipase alpha.

 

961  UNUSUAL PRESENTATION WITH DIRECT HYPERBILIRUBINEMIA FROM KALLMANN SYNDROME IN AN INFANT

Ramakrishna Mutyala, John Pohl, Linda Book, Bhanu Muniyappa, University of Utah, Salt Lake City, UT, USA

Introduction: Many conditions can present with direct hyperbilirubinemia in young infants, including panhypopituitarism. We describe the rare association of cholestasis with Kallmann’s Syndrome, characterized by optic nerve and pituitary hypoplasia with absence of the olfactory bulb.

Case Report: A six-week-old term female infant presented to the liver clinic for evaluation of direct hyperbilirubinemia and nystagmus. Birth history was notable for hypoglycemia in the first few days of life requiring admission to the NICU. MRI of the brain was interpreted as normal. Hypoglycemia persisted for several days with the infant requiring dextrose-containing IV fluids until she’s able to maintain normal glucose levels on enteral feeds. She was also noted to be persistently jaundiced beyond the initial newborn period. At 2 weeks of age, she had a direct bilirubin of 1.3 mg/dL, GGT 230 U/L and normal AST, ALT. She was also noticed to be persistently jaundiced beyond the initial newborn period. After discharge, she remained icteric and abnormal eye movements were noticed by the parents. On admission to the hospital at six weeks of age, she had direct hyperbilirubinemia (4.4 mg/dL), hypoglycemia (30 mg/dL), and low cortisol, less than 0.8 ug/dL (Normal 1-23). Other labs were notable for TSH 0.08 uIU/dL (Normal 0.8-6.3), total bilirubin 6.8 mg/dL, ALT 204 U/L, AST 405 U/L, and Alk Phos 624 U/L. The infant was started on stress dose steroids with immediate improvement in glucose levels. She was also started on levothyroxine and ursodeoxycholic acid. Further evaluation revealed bilateral optic nerve hypoplasia on fundoscopic exam. Brain MRI was repeated and revealed ectopic neurohypophysis, pituitary hypoplasia, optic nerve hypoplasia, anterior commissure hypoplasia, and absence of olfactory bulbs and tracts, consistent with Kallmann syndrome. Bilirubin and free T4 normalized with treatment. The infant continued to feed well and maintained normal serum glucose levels without further intervention. She was discharged home to follow-up with endocrinology, ophthalmology, hepatology, and genetics.

Discussion: This case highlights the need to consider a broad differential diagnosis when evaluating an infant with direct hyperbilirubinemia. Initial evaluation may include testing of glucose, ACTH, cortisol, TSH and free T4 (ideally drawn in the setting of hypoglycemia), in addition to liver function tests when a central cause is suspected. Brain MRI with particular focus to the pituitary gland and hypothalamus may be indicated if these initial studies point toward an underlying central endocrine diagnosis. Kallmann syndrome has not been widely described in infants and has not been previously reported in association with direct hyperbilirubinemia in infants. However, in the setting of direct hyperbilirubinemia, Kallmann syndrome should be considered when evaluating for midline defects including hypopituitarism and septo-optic dysplasia.

 

962  AUTOIMMUNE HEPATITIS IN A PATIENT WITH A HISTORY OF ATOMOXETINE THERAPY

Jonathan Yang1, Paul Shaniuk2, Ramy Sabe2, Shahrazad Saab2, Atiye N. Aktay2, 1Case Western Reserve University, Cleveland, OH, USA, 2University Hospitals Rainbow Babies & Children's Hospital, Cleveland, OH, USA

Introduction: Autoimmune hepatitis (AIH) is a chronic, progressive, inflammatory liver disorder of unclear etiology. It is characterized by the presence of autoantibodies, elevated immunoglobulin (IgG), and interface hepatitis. AIH can be induced by specific drugs including minocycline, hydralazine, and nitrofurantoin. Herein we present a teenager who was found to have autoimmune hepatitis following presentation with acute pancreatitis. He had a past history of atomoxetine therapy, a drug that has been associated with drug-induced liver injury (DILI). Only a few pediatric cases of DILI associated with amotoxetine are reported in the literature.

Clinical Case: A 15-year-old male presented with the sudden onset of left upper quadrant abdominal pain that progressed to severe epigastric pain with radiation to the back. He had sporadic episodes of similar pain for the last three years. He presented to an emergency room where laboratory tests demonstrated findings of acute pancreatitis and hepatitis. At follow-up, his symptoms improved, but the laboratory findings had worsened,and he was admitted for further evaluation. Viral serologies were negative. Liver ultrasound and magnetic resonance cholangiopancreatography identified common bile duct dilatation (8.1 mm) with no gallstones, and heterogeneous hepatic echotexture. He developed intermittent fevers and worsening transaminases (aspartate and alanine aminotransferases of 212 and 197 U/L, respectively) as well as elevations in the total and direct bilirubin (2.2 & 1.5 mg/dL) and gamma-glutamyl transferase (1043 U/L) with rising inflammatory markers. Intravenous antibiotics were started for ascending cholangitis, with clinical and laboratory improvement. The immunoglobulin G (IgG) level was elevated (1860 U/L) with IgG1 predominance, and a normal IgG4 level. The antinuclear antibody titer was 1:1280 and anti-smooth muscle antibody titer was 1:40. Liver biopsy showed chronic interface hepatitis, lobular apoptotic hepatocytes, and focally bridging fibrosis consistent with autoimmune hepatitis. On further history, he reported taking atomoxetine approximately 3 years ago for 1 year. Prednisone was started with a good clinical response. Azathioprine was initiated as an outpatient after his acute pancreatitis resolved.

Discussion: The patient met criteria for autoimmune hepatitis. atomoxetine, which he took for one year, has been linked to idiosyncratic drug-induced liver disease as well as drug-induced autoimmune hepatitis. His heterogenous findings were deemed to be secondary to drug-induced autoimmune hepatitis considering his Roussel Uclaf Causality Assessment Method (RUCAM) score for atomoxetine in the “possible category,” in association with the chronic hepatic fibrosis on liver biopsy. The relationship, if any, of the episode of acute pancreatitis to the liver disease is unclear.

 

963  CLINICAL COURSE AND LONG-TERM OUTCOME OF PRIMARY SCLEROSING CHOLANGITS IN CHILDREN. - A SINGLE CENTER RETROSPECTIVE REVIEW IN JAPAN

Shuichiro Umetsu1, Ayano Inui1, Tsuyoshi Sogo1, Haruki Komatsu2, Tomoo Fujisawa1, 1Saiseikai Yokohama Shi Tobu Hospital, Yokohama, Kanagawa, Japan, 2Toho University Sakura Medical Center, Sakura, Chiba, Japan

Aims: Primary sclerosing cholangitis (PSC) is a chronic hepatobiliary disease including a beaded pattern of dilatation, stricture, and progressive bile duct fibrosis. There were few date on children with PSC in Asia. The aim of this study is to clarify clinical courses and long-term outcomes of pediatric PSC in Japan.

Materials and Methods: This study considers all patients consecutively diagnosed with PSC in our hospital. Sex, age at onset, age at diagnosis, symptoms at onset, laboratory date, association with inflammatory bowel disease (IBD), choangiographic findings, liver histology, and prognosis were evaluated to identify the characteristics of pediatric PSC in Japan.

Results: Thirty seven children (boys/girls: 22/15) fulfilled the criteria for PSC. The median age at diagnosis was 8 [2–20], the most common features at onset was chance Liver Function Disorders (chance LFD). The levels of ãGTP were abnormal in 91.9 %. All patients had IBD, and 40.5% (25/37) of them advanced liver histology. All patients of 37 were treated with urusodeoxycholic acid, and salazosulfapyridine. With regards to immunosuppressive treatment, 56.7% (21/37) of them were treated with predonisolone, 4 of them with azatioprine, 2 with cycrosporine A, one with cyclophosphamide, and one with infliximab. 29.7% (11/37) of patients showed improvement, 13 patients were no response. Eleven patients were deteriorating and living donor liver transplantation (LDLT) has been underwent in 5 children of them, and all of them developed recurrence of PSC. Three of them died. Five-year transplantation-free survival rate was 86.6%.

Conclusions: Our study found that there were all range in the age distribution, most patients had IBD, higher ãGTP level, and high PSC recurrence after LDLT. Cadaveric liver transplantation should be chosen for end stage of PSC patients.

 

964  WILSON’S DISEASE PRESENTING AS ACUTE LIVER FAILURE IN A 7-YEAR-OLD

Tina Morhardt, Jacob Bilhartz, University of Michigan, Ann Arbor, MI, USA

Introduction: Wilson’s disease (WD) is an inherited disorder of copper metabolism leading to accumulation in the tissues causing end-organ damage, particularly in the liver. It is caused by mutations in the ATP7B gene on chromosome 13 and most commonly presents in older adolescents and young adults. Manifestations of a hepatic presentation of WD are variable and include asymptomatic elevations in transaminases, acute liver failure, and chronic hepatitis and cirrhosis. Most patients presenting with acute liver failure require urgent liver transplantation as medical therapy is seldom effective.

Case Report: A previously healthy 7-year-old boy, of East Indian background, presented with a GI illness and jaundice. He was noted to have hepatosplenomegaly, coagulopathy, very elevated bilirubin, and hemolytic anemia. He also had acute kidney injury and metabolic acidosis with profound hypophosphatemia and hypokalemia. He had initial hemoglobin 4.8 g/dL with a negative Coombs test. His liver enzymes initially showed mildly elevated aspartate transaminase and low alanine transaminase and alkaline phosphatase. Ceruloplasmin was 9 (normal 16-36 mg/dL) with elevated urine copper 6944 mcg/24 hours (normal 0-55 mcg/24 hours), confirmed on two specimens. Ophthalmology exam revealed no Kayser-Fleischer rings. Liver biopsy was performed which showed elevated copper content 434 mcg/g dry weight (normal 10-35 mcg/g), portal fibrosis and chronic active hepatitis with parenchymal loss. There was focal nodular formation. He was listed for liver transplant for fulminant Wilson’s disease on hospital day 4 while simultaneously starting medical therapy with trientine and zinc. Sequencing of the ATP7B gene noted homozygosity for a known pathogenic mutation c.3182G>A (p.Gly1061Glu) on exon 14. Hemolysis ultimately resolved with renal function also returning back to baseline. His bilirubin peaked at 50.8 mg/dL but then improved. He was discharged from hospital after 21 days. He is currently on hold on the liver transplant list given improved clinical stability. Over the two months since discharge, his direct bilirubin has improved to 2 mg/dL and he is no longer coagulopathic. He has transitioned to trientene monotherapy.

Conclusions: We present a 7-year-old patient who developed acute liver failure as a result of Wilson’s disease and responded to initial medical management. Although the diagnosis is more common in older patients, Wilson’s disease should be considered at any age in a patient with unexplained liver disease. While the standard approach for fulminant Wilson’s disease is emergent listing for liver transplantation, medical management with chelation treatment and zinc should also be considered. In our case of a severe presentation of Wilson’s disease, our patient has successfully been treated medically, for now precluding the need for transplant.

 

965  FULMINANT HEPATIC FAILURE REQUIRING LIVER TRANSPLANTATION DUE TO ACCIDENTAL ALCOHOL INGESTION IN A 7-MONTH-OLDBABY

Upma Suneja1, Sivan Kinberg2, Ester Flores1, Bakri Dabbagh3, Magda Mendez1, Muhammad Waseem1, 1Lincoln Hospital, New York, NY, USA, 2Columbia University Medical Center, New York, NY, USA, 3Harlem Hospital, New York, NY, USA

Ethanol intoxication is rarely described in the pediatric literature, especially in early infancy, and clinical presentation may vary according to age. Although potentially fatal, outcome is usually good in early infancy, partly due to faster elimination of alcohol. We present a 7-month-old female brought to the emergency department (ED) by her parents due to accidental ingestion of alcohol, resulting in fulminant hepatic failure and ultimately liver transplantation.

Case: A 7-month-old female was brought to the ED after parents noticed a change in her behavior. They described agitation, episodes of crying followed by drowsiness, and the smell of alcohol on her breath. Upon further questioning, her mother stated that prior to onset of symptoms the baby had drank 4 oz of formula accidentally prepared with vodka that was stored in a water bottle. Vital signs and physical exam were normal. Approximately four hours after ingestion, basic metabolic panel, liver function tests, urine toxicology screen, acetaminophen and salicylate levels were normal. Serum ethanol level was elevated (234 mg/dL) and she was hypoglycemic (58 mg/dL). The patient received intravenous dextrose and was admitted to the pediatric floor for glucose level and liver function monitoring. She remained neurologically intact and hemodynamically stable. Following an initial sleepy period, she was awake and playful. Blood glucose levels ranged from 55-143 mg/dL and ethanol level decreased to <3 mg/dL. AST increased to 4050 U/L and ALT to 1730 U/L and trended to 2781 U/L and 1770 U/L 20 hours after ingestion. INR worsened from 2.77 to 3.15 despite vitamin K administration. Due to worsening liver failure, she was transferred to a liver transplant center, where she was treated with N-acetylcysteine, methylprednisolone, vitamin K and fresh frozen plasma. She developed worsening coagulopathy (INR 5.3) and encephalopathy secondary to fulminant hepatic failure and underwent auxiliary partial orthotopic liver transplantation. She was discharged home and continues to follow-up with the liver team.

Accidental exposure is the most commonly defined scenario for alcohol ingestion in infants and young children. Intoxicated infants and toddlers are at greater risk for the triad of coma, hypothermia, and hypoglycemia that may be accompanied by metabolic acidosis. Other symptoms can be non-specific. Symptoms typically appear when ethanol levels exceed 50-100 mg/dL. In our patient, the 4 oz ingestion is equivalent to 48 g of alcohol (6.9 g/kg). Ingestion of more than 3 g/kg is potentially lethal to a child.

This case demonstrates that infants with ethanol consumption may lack typical symptoms of acute intoxication. Alcohol levels and clinical manifestations may not correlate to the extent of liver damage in infants, necessitating close monitoring for hepatic failure. We also highlight the importance of anticipatory guidance regarding formula preparation and appropriate storing and handling of water.

References: 1. Elimination kinetics of ethanol in a five-week old infant and a literature review of infant ethanol pharmacokinetics. Ford J B Et al. Case reports in medicine.Volume2013, Article ID250716; 2. Alcoholic hepatitis: A comprehensive review of pathogenesis and treatment. Maneerat Chayanupatkul, Suthat Liangpunsakul. World Journal of Gastroenterology 2014 May 28;20(20):6279-6286; 3. Ethanol Pharmacokinetics in neonates and infants. Elizabeth Marek, Walter K. Kraft. Current Therapeutic Research. 76(2014)90-97; 4. Ethanol ingestion in two infants under 2 months old: A previously unreported cause of ALTE. McCormick T Et al.Pediatrics2013; 131; e604; 5. An unexpected clinical course in a 29 day old infant with ethanol exposure. Hiu-Fai Fong, Allison A Muller. Pediatric Emergency care .Volume 30, No.2 February, 2014; 6. Acute Obtundation in a 9-month-old patient. Ethanol ingestion. Suzanne M Edmunds, Samuel J Ajizian, Anthony Liguori. Pediatric Emergency Care. Volume 30 No.10, October, 2013; 7. Accidental acute alcohol intoxication in infants: Review and case report.Gabriella Minera, Evan Robinson. The Journal of Emergency Medicine. Volume 47, No. 5.pp.554-526, 2014; 8. Acute ethanol intoxication in a 7 month-old infant. Chikwava K et al. Pediatrics and Developmental pathology 7, 400-402, 2004; 9. Acute alcohol intoxication in a 15 day old neonate. Zaitsu M Etal. Pediatrics International.2013

 

966  A RARE CASE OF SYMPTOMATIC HEREDITARY HEMOCHROMATOSIS IN A 5-YEAR-OLD MALE

Katrina Loh, Wael N. Sayej, Natalie S. Bezler, Karan Emerick,, Connecticut Children's Medical Center, Hartford, CT, USA,

Introduction: Hereditary hemochromatosis (HH) is a common genetic cause of iron overload in adults, typically remaining asymptomatic until the sixth decade. Pediatric cases are rarely identified unless discovered through genetic testing for positive family history. Cases of symptomatic HH are rare in the pediatric literature.

Case: A five-year-old male with intractable epilepsy and cerebral palsy was found to have elevated liver enzymes during work up for feeding difficulties and gastrostomy tube placement. This was initially thought to be due to anti-epileptics, but enzymes continued to increase despite weaning off the medications and initiation of ketogenic diet. Further laboratory evaluation revealed elevated ferritin levels (>2300 µg/L) with normal transferrin and iron levels. Other evaluation, including hemoglobin electrophoresis, infectious hepatitis evaluation, autoimmune evaluation, metabolic evaluation and vitamin levels were normal. Markers for hemochromatosis were sent and the patient had a C282Y homozygous mutation for HH and negative testing for juvenile hemochromatosis. A liver biopsy showed liver iron > 36,000 mg of iron per gram of liver. Evaluation of total body iron with MRI showed no deposits in the brain, however echocardiogram demonstrated iron deposits on the right ventricular septum. Serial phlebotomy and chelation therapy with deferasirox were initiated resulting in a normalization of serum iron and ferritin concentrations. Repeat MRI imaging two years after diagnosis showed no cardiac iron deposits and decreased iron content in the liver (4.1-6.6mg of iron per gram of dry liver). He continues to be monitored closely for concerns of evolving portal hypertension.

Discussion: Symptomatic HH is typically not seen in the pediatric population but can cause cardiac complications and death. This case illustrates an option for management of HH in children, as no universal guidelines exist.

 


INFLAMMATORY BOWEL DISEASE

 

1014  SAFETY AND EFFICACY OF FERRIC CARBOXYMALTOSE IRON INFUSIONS IN CHILDREN WITH INFLAMMATORY BOWEL DISEASE AND IRON DEFICIENCY ANEMIA

Phuong Luu1, Ashish Patel2, 1Children's Health, Dallas, TX, USA, 2University of Texas Southwestern Medical Center, Dallas, TX, USA

Background: The risk of iron deficiency anemia is higher and the implications more serious in children compared to adults with IBD. While oral iron replacement therapy is recommended as a first line treatment for iron deficiency anemia (IDA), response is usually poor due to inadequate compliance, adverse effects, impaired intestinal absorption due to chronic inflammation, chronic blood loss and increased catabolic demand related to disease chronicity and insufficient dietary intake. The effectiveness of oral iron replacement therapy for the treatment of IDA is limited by slow onset of action, frequent dosing, gastrointestinal side-effects and potential to exacerbate intestinal inflammation. While anemia may significantly impair quality of life, the implications are much more serious in children largely due to impaired growth and development. Hence, early and appropriate intervention of IDA is essential for acute symptom relief of chronic fatigue and reduce energy metabolism. Early treatment also prevents long-term potential complications. IDA drives up health care cost due to increased risk of hospitalization and surgery.

Treatment discontinuation rates tend to be high with oral iron supplementations compared to IV iron due to adverse gastrointestinal effects or intolerance. IV iron produces a higher efficacy and more sustained rise in iron compared to oral iron. Different intravenous iron formulations vary by molecular weight, chemical properties and preparation which affect how iron is administered and tolerated. For example, newer low molecular intravenous iron replacement therapy such as ferric carboxymaltose (FCM) appears to have a better safety profile compared to high molecular weight iron such as dextran which was associated with more severe allergic reactions due to anti-dextran antibodies. Injectafer® is a non-dextran, intravenous iron preparation approved in the US in 2013 for adults with iron deficiency anemia. While intravenous iron has been a well-established option for correction of IDA, the role of IV iron replacement therapy in the pediatric setting has not been well studied. The primary aim of this retrospective study is to report the efficacy and tolerability of Injectafer® (FCM) in the treatment of IDA in pediatric IBD patients. The secondary aim is to determine safety and efficacy of Injectafer® infusion in the treatment of IDA in pediatric IBD patients following Infliximab infusions.

Method: A retrospective chart review of all pediatric IBD patients receiving FCM for IDA at Children's Medical Center/UTSW in Dallas, TX between 1/2015 – 1/2016 was performed. A total of three IBD patients were identified. We identified two patients who were given FCM approximately 5-20 minutes after their scheduled Infliximab infusion and one patient who received FCM who was not on a biologic agent. We utilized the Center for Cancer and Blood Disorders (CCBD) clinical protocol for FCM treatment for IDA patients with oral iron treatment failure from Children’s Health, Dallas, TX. Treatment failure is defined as laboratory confirmed IDA in patient with IBD who failed to respond to appropriate dosing of oral iron supplementation. Baseline labs: CBC with differential, retic, retic-He, serum ferritin, iron and TIBC. Since all of the patients weighed more than 50 kg they were each given two 750 mg doses FCM infusion over 15 minutes separated by at least 7 days for a cumulative total of 1500 mg of iron. Patients weighing less than 50 kg would receive 15 mg/kg or a single dose of 750 mg of iron. The following parameters were assessed during the infusion: vital signs at baseline, 5 minutes after initiation of infusion, completion of infusion and every 15 minutes until 30 minutes post-infusion. Adverse effects were documented and treated accordingly.

Results: A total of three pediatric IBD patients with iron deficiency anemia were treated with Injectafer® (ferric carboxylmaltose). We identified two patients who received Injectafer® on the same day as their scheduled Infliximab infusion and a third patient received only FCM infusion to focus our case discussion on. The Infliximab dosing scheduled varied from 5 mg/kg every 8 weeks to 10 mg/kg every 4 wks. Of the two patients on Infliximab which were both pre-medicated with Benadryl, only one patient received steroid prior to Infliximab infusion. Post administration of FCM, correction of anemia was noted with an improvement of mean hemoglobin level from baseline 9 g/dl to 13 g/dl as noted by repeat labs at 4-13 weeks post infusion. Slight fluctuations in pulse and blood pressure were observed during the infusion but no intervention was warranted since the patients were asymptomatic. The patients did not experience any of the reported adverse reactions such as tingling, abdominal pain, urticaria, dyspnea, or intractable vomiting.

Conclusions: In our small cohort of pediatric IBD patients with IDA, FCM was well tolerated and effective in the correction of IDA. The use of FCM in pediatric patients needs to be studied as a potentially safe alternative for the treatment of IDA in children with IBD. This initial experience suggest that FCM may be safely administered immediately after Infliximab infusions as our case reports have demonstrated. However, the effects of FCM on the efficacy of infliximab, if any, may need to be further studied. Theoretically, pre-medications like Benadryl and corticosteroids prior to Infliximab infusion may have the added benefit of reducing antibody formation and adverse reactions to FCM. However, the two patients who did not receive steroid prior to their infusion tolerated the FCM infusion without any reported adverse events. Further clinical studies incorporating a larger cohort of pediatrics IBD patients with IDA are necessary to evaluate the safety, efficacy and tolerability of FCM. This case report also demonstrate that FCM is safe and potentially efficacious given immediately after Infliximab for the treatment of pediatric IBD patients with IDA.

 

1015  THE LONG-TERM EFFECTS AND ADVERSE EVENTS OF INFLIXIMAB THERAPY FOR PEDIATRIC CROHN'S DISEASE: JAPANESE NATIONAL SURVEY

Kenji Hosoi1, Yoshikazu Ohtsuka1, Itsuhiro Oka1, Nobuyasu Arai1, Masamichi Sato1, Reiko Kyodo1, Eri Miyata1, Seiichi Matsumura1, Naho Obayashi1, Keisuke Jimbo1, Tamaki Ikuse1, Yo Aoyagi1, Tohru Fujii1, Takahiro Kudo1, Shinichi Niijima2, Toshiaki Shimizu1, 1Juntendo University Graduate School of Medicine, Bunkyo, Tokyo, Japan, 2Juntendo University Nerima Hospital, Nerima, Tokyo, Japan

Background: Childhood-onset IBD is characterized by extensive intestinal involvement and rapid early progression. Disease severity is greater in children with IBD than in adults. Over the last decade, the introduction of IFX has dramatically changed the treatment and management of IBD. Instead of steroid therapy, Infliximab (IFX), cyclosporine (CYA), and tacrolimus (FK506) are increasingly used to treat pediatric IBD. However, their long-term effects and adverse events have not been properly investigated in pediatric patients. The aim of this study was to characterize the effects of these biologics and immunomodulators on pediatric IBD patients in Japan. In addition, we assessed IFX use in pediatric patients with CD specially with secondary non-responders.

Methods: The study was designed as a retrospective analysis at multiple institutions in Japan. A national survey of IFX, adalimumab (ADA), CYA, and FK506 use in pediatric IBD patients (< 17 years of age) was sent to 683 facilities in Japan from December 2012 to March 2013. Secondary questionnaires were sent to physicians who treated pediatric CD patients with IFX and accepted to answer secondary questionnaires. The secondary survey assessed patient age, gender, family history, time of disease onset, disease severity and distribution, complications, other medications, IFX schedule and regimen, indications for IFX use, and the effects and adverse events of IFX.

Results: The response rate for the primary survey was 61.2% (N&#8202; &#8202;418). Among 871 pediatric CD patients, 284 (31.5%), 24, 4 and 15 received IFX (31.5%), ADA, CYA, and FK506, respectively, from 2000 to 2012. According to the secondary survey, extensive colitis (L3, Paris classification) was diagnosed in 69.4% of pediatric CD patients who received IFX. Regarding the effectiveness of IFX in this population, 54.7% (99/181) of patients were in remission; 42.0% (76/181) were on maintenance therapy. Primary non-responder was 6.1% (11/181), and secondary non-responder was 22.1% (40/181). Regarding with secondary non-responder, average duration from first IFX to secondary non-responder was 13.2 months (range 2-44 months) among 25 patients and average frequency was 7.1 times (range 3-22 times) among 19 cases. Among 37 secondary non-responders, 12 patients received an increased IFX dose, 13 had shortened infusion schedules, and 12 received an increased dose and had a shortened infusion schedule. 32.0% (58/181) of patients experienced adverse events. Infusion reaction were the most common event (18.2%, 33/181), followed by infection. One patient died of septic shock.

Conclusions: This study suggests that treatment with IFX is beneficial, effective and reasonably safe for Japanese pediatric CD patients and should therefore be administered in steroid-refractory and steroid-dependent cases.

 

1016  EPIPLOIC APPENDAGITIS: A RARE CAUSE OF CHRONIC RIGHT LOWER QUADRANT PAIN IN A PEDIATRIC PATIENT

Colleen Maurer, Lori Mahajan, Imdad Ullah, David Magnuson, Cleveland Clinic Children's Hospital, Cleveland, OH, USA

Introduction: Recurrent abdominal pain (RAP) affects approximately 10%–20% school-aged children. While most RAP in children is functional, pain localized away from the umbilicus is more likely to have an underlying organic cause. The differential diagnosis of chronic right lower quadrant (RLQ) pain includes chronic constipation, mesenteric adenitis, Meckel’s diverticulum, omental infarction, appendiceal abnormalities and inflammatory bowel disease. We report an unusual cause of chronic RLQ pain in a pediatric patient.

Case Report: An obese 10-year-old male was referred for evaluation of an almost two-year history of recurrent RLQ pain. Pain varied in intensity but prompted many visits to his pediatrician. Extensive laboratory evaluation, imaging studies including an abdominal ultrasound, and prior upper and lower endoscopy with biopsy were normal. Pain in the RLQ was described as sharp and stabbing, and lasted for days at a time. No associated nausea, fever, diarrhea or weight loss reported. He presented to an ER weeks earlier due to the severity of RLQ pain; abdominal CT showed a 4-cm oval-shaped, paracolic focus of fat density surrounded by inflammatory change in the RLQ. A “central dot sign” of increased density was seen, consistent with the diagnosis of epiploic appendagitis (EA). Pain did not resolve despite intravenous fluids and pain medications. On examination in clinic, he had localized pain in the RLQ with voluntary guarding. Remainder of examination was unremarkable. Given the chronicity and intermittent recurrent severity of his RLQ pain, he was referred to surgery and underwent excision of the infarcted EA and single port laparoscopic appendectomy to prevent future clinical confusion/unneccessary imaging or worse, unrecognized acute appendicitis with complications of perforation or abscess. Surgery resulted in complete resolution of pain that had been present for years.

Discussion: EA is an ischemic and inflammatory condition resulting from torsion of the epiploic appendages. It is a rare cause of abdominal pain in the pediatric population with only ten previously reported cases. 80% of prior pediatric cases have been cecal in location. EA usually occurs in the 4th and 5th decades of life, equally in men and women. Obesity has been identified as a risk factor in children and adults. While EA is usually self-limiting in adults, 80% of pediatric patients have required surgical management.

Conclusions: EA is a rare condition, but should be considered in the differential diagnosis of acute or recurrent RLQ pain in children. Conservative management is more successful in adults. Surgical resection is curative and no pediatric recurrences have been reported.

 

1017  CEREBROTENDINOUS XANTHOMATOSIS (CTX): AN EASILY MISSED DIAGNOSIS IN CHILDREN WITH INTRACTABLE DIARRHEA

Mohammad Nasser Kabbany, Anthony Anani, Praveen Kumar Conjeevaram Selvakumar, Naim Alkhouri, Cleveland Clinic Foundation, Cleveland, OH, USA

Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutation in the CYP27A1 gene leading to 27-hydroxylase deficiency, a mitochondrial enzyme involved in bile acid synthesis. This mutation causes the synthesis of abnormal bile alcohols and the accumulation of cholestanol in the blood and tissues of affected individuals which can lead to the development of premature bilateral cataracts, intractable diarrhea, neurological signs and symptoms, and tendon xanthomas, especially in the Achilles tendons. Early diagnosis and replacement therapy with chenodeoxycholic acid can prevent clinical deterioration. Unfortunately, the development of the classic xanthomas may not occur until the 3rd decade of life leading to delays in diagnosis and initiation of treatment. Here we present two cases of CTX that presented early in childhood with intractable diarrhea but were not diagnosed with CTX until later in life. The first patient is a 35-year-old female who had infantile diarrhea intractable to routine medical therapy with no clear etiology. She developed bilateral cataracts in her 20’s but was not diagnosed with CTX until the age of 35 when she presented with Achilles tendon xanthomas. The second patient is a 24-year-old male who presented with infantile diarrhea and poor weight gain during childhood. He was later on diagnosed with diarrhea-predominant irritable bowel syndrome at the age of 13 years old. He was diagnosed with learning disability and attention deficit hyperactivity disorder (ADHD) at age 23 years and developed bilateral cataracts at age 24 which prompted the diagnosis of CTX. Cholestanol level was elevated 35.6 mcg/ml (normal 0.86-5.18).

Pediatric gastroenterologists should be aware of the diagnostic possibility of CTX in children presenting with chronic diarrhea and juvenile cataracts even in the absence of the classic Achilles tendon xanthomas. The diarrhea typically resolves with initiation of chenodeoxycholic acid. Prevention of further neurologic deterioration is particularly significant in light of the availability of early genetic diagnosis and the devastating effects of this illness if not treated.

 


1018  SPOTTING THE CAUSE OF AN UNUSUAL RASH IN PEDIATRIC CROHN’S PATIENT ON INFLIXIMAB

Nisha Patel, Rebecca Abell, University of Rochester Medical Center, Rochester, NY, USA

Introduction: Non-tuberculosis mycobacterium infections are increasing in patients receiving tumor necrosis factor (TNF-a) inhibitors. To our knowledge, only 6 adult cases have been reported in the literature of Mycobacterium marinum in this population. We describe the first reported case of M. marinum in a pediatric Crohn’s disease patient being treated with Infliximab.

Case: A 12-year-old male with isolated ileal Crohn's disease and growth failure was treated successfully with Infliximab 5mg/kg IV Q6 weeks and concomitant low dose methotrexate (MTX). Blood TB test (Quantiferon Gold) was negative at diagnosis. He responded well to treatment as seen by improved weight gain and linear height velocity. His repeat fecal calprotectin normalized and repeat MR Enterography 1 year later demonstrated resolution of bowel wall thickening.

Shortly after this, he injured his left great toe in an ecological water park while rock climbing in Mexico. After this, he had difficulty with a non-healing wound and progressive worsening of left inguinal lympadenopathy despite two courses of antibiotics (cephalexin and clindamycin). On examination, an erythematous/scaly rash progressed to pustules with purulent drainage around the proximal nail fold. Dermatology performed a punch biopsy of left toe lesion and acid fast stain was positive. Due to concerns of risk of disseminated mycobacterium infection, further Infliximab therapy was held. AFB Culture confirmed cutaneous M. marinum infection and was he was started on Rifampin 300 mg daily and Zithromax 500 mg daily. He initially responded well, but later developed multiple scattered subcutaneous nodules with a sporotrichoid pattern. MRI revealed no evidence of osteomyelitis, no drainable fluid collection and numerous cutaneous abnormalities ranging from 1 to 5 mm. His Crohn’s symptoms are currently well controlled on monotherapy with MTX.

Discussion: M. marinum is found in salt water and fresh water. Infection occurs following inoculation of a skin abrasion or puncture wound and manifests as a localized granuloma or sporotrichotic lymphangitis. TNF-a plays an integral part in the pathway leading to granuloma formation and blockade of this factor would logically lead to an increased risk of mycobacterial infections in immunosuppressed patients on anti-TNF therapy. The exact duration of antibiotic therapy for M. marinum infection is not well defined in the anti-TNF therapy population which makes it difficult to determine if and when Infliximab can be restarted. Cutaneous infections with a sporotrichoid pattern of spread should raise the suspicion of M. marinum infection. We wish to highlight the importance of obtaining a complete social history and considering atypical mycobacteria infection in the differential diagnosis of a child on receiving anti-TNF therapy and an unusual rash.

 

1019  CROHN’S DISEASE IN FILIPINO CHILDREN AND ADOLESCENTS

Novette Regina M. Lagunzad, Elizabeth G. Martinez, Germana V. Gregorio, University of the Philippines - Philippine General Hospital, Manila, Metro Manila, Philippines

Background: Crohn’s disease is a phenotypically diverse chronic inflammatory disease that may affect any part of the gastrointestinal tract. It may mimic infectious causes that are endemic in the region. At present, limited local data is available in children.

Aim: To describe the different features of Crohn’s disease among Filipino children.

 Methods: Review of medical records of six patients with Crohn’s disease was done. The diagnosis was based on the European Crohn’s and Colitis Organization diagnostic criteria.

Study design: Case series.

Results: Six female pediatric-onset Crohn’s disease patients were included, five of whom were between 8-14 years of age. Risk factors were maternal age >30 years during pregnancy, family history and previous appendectomy. Abdominal pain and bloody diarrhea were the most common presentation. Duration from initial symptom to diagnosis of Crohn’s disease was seven months to four years. The most common initial diagnosis was amoebiasis and gastrointestinal tuberculosis. At onset, the majority was underweight but none was stunted. Three cases had perianal tag and one had fistula-in-ano. Of the six, anemia was noted in three, leukocytosis in three, thrombocytosis in five and elevated erythrocyte sedimentation rate and/ or C-reactive protein in five. All had colonic involvement and three had concomitant gastroduodenal lesions. Colonoscopic findings included multiple aphthous ulcers in four, longitudinal ulcers in two and deep ulcers in one. Histopathology was interpreted as non-specific ileocolitis in all, with presence of granuloma in two. On imaging studies, two cases were demonstrated with ileal wall thickening with or without narrowing. Disease phenotypes, based on macroscopic appearance of mucosal ulceration or bowel wall thickening on radiography, were classified as inflammatory in four and penetrating and/or stricturing in two. All patients were treated with corticosteroids followed by mesalazine or azathioprine for maintenance. Five are presently alive, four of whom are in remission while one succumbed to infection.

 Conclusion: Pediatric-onset Crohn’s disease should be included in the differential diagnosis of any patient presenting with abdominal pain and bloody diarrhea after exclusion of infectious enterocolitis and gastrointestinal tuberculosis.

          Table 1. Clinical Characteristics of Patients with Crohn’s Disease on Initial Consult

 

Case 1

Case 2

Case 3

Case 4

Case 5

Case 6

Gender

Female

Female

Female

Female

Female

Female

Age at onset of symptoms (years)

8

12

11

14

13

2

Time lag from onset of symptoms to diagnosis of IBD (mos.)

12

2

48

36

36

7

Family History of IBD

None

None

None

None

Yes

None

Maternal age at birth

(years)

26

28

33

37

37

31

Past medical history

none

none

appendec-tomy

none

ADHD

Epilepsy, psychosis

none

Weight (kg)

Height (cm)

BMI (kg/m2)

 

Nutritional Status

 

22

130

13

 

Moderate wasting,

No stunting

27.25

143

13.3

 

Moderate wasting,

No stunting

35.5

157.5

14.3

 

Severe

wasting

No stunting

33

165

12.1

 

Severe wasting,

No stunting

53.5

153

22.8

 

No wasting

No stunting

9.3

90

11.5

 

Severe wasting,

No stunting

Chief complaint

Abdominal pain

Bloody diarrhea

Abdominal

pain

Bloody stools

Abdominal pain & diarrhea

Bloody diarrhea

Other symptoms

Soft stools, vomiting, anorexia, bloated feeling

Abdominal pain,        weight loss

Anorexia,

weight loss, amenorrhea, hypogastric mass

Abdominal pain, anorexia, weight loss, amenorrhea

Diarrhea, fever, dysuria

Abdominal pain, anorexia, weight loss

Extraintestinal manifestation

None

None

Pelvocaliec-tasia

Arthralgia and rashes

None

None

Perianal disease

None

Anal tag

None

Anal tag, Fistula-in-ano

None

Anal tag

Extent of disease

Cecum to mid- transverse colon

Gastro duodenal + Ileocolonic

Ileocecal

Gastric + Proctocolonic

Gastric +

Ileocolonic

Pancolitis

 

Pediatric Crohn’s Disease Activity Index

45

(moderate-to severe)

25

(mild)

52.5

(moderate-

to-severe)

57.5

(moderate-to-severe)

22.5

(mild)

42.5

(moderate-

to-severe)

 

1020  A GI SERVICE INPATIENT ADMISSION LEADING TO THE DIAGNOSIS OF RETT SYNDROME

Peter Capucilli, Lindsey Albenberg, Xilma R. Ortiz-González, The Children's Hospital of Philadelphia, Philadelphia, PA, USA

A 25-month-old girl with developmental delay was admitted for work-up of progressive abdominal distension, feeding intolerance and weight loss. Family reported onset of recurrent abdominal distention beginning 3 months prior to presentation, when her abdomen would become firm immediately after meals. Prior to this, she had no feeding issues and was gaining weight. Over time, her distention caused discomfort and pain with feeds, ultimately leading to food refusal and weight loss. Her weight measured below the 5th percentile, having previously been at the 85th percentile. Before admission, she underwent evaluation by a pediatric gastroenterologist who suspected her symptoms might be due to milk protein allergy or reflux. Dairy was eliminated from the diet and she was started on Zantac and a PPI without improvement. Several formulas were attempted before her diet was maintained with Alimentum. Progressively, she developed additional difficulties with feeding including uncoordinated swallowing and choking. Her family also described facial gestures that appeared as if she was swallowing air. Developmental delay was noticed at four months with failure to meet milestones. She was enrolled in therapies, and notably did not show signs of regression. Brain MRI and metabolic screening sent with symptom onset were normal.

Upon admission, initial labs including celiac serology and stool studies, were normal. Imaging including an abdominal X-ray and RUQ ultrasound showed distended bowel loops without obstruction. She underwent upper GI with SBFT, EGD and flexible sigmoidoscopy, all unremarkable. Genetics was then consulted, and a clinical diagnosis of Rett Syndrome was suspected given significant global delay, hand stereotypies and head growth deceleration. Targeted MECP2 and FOXG1 mutation analysis were sent, showing a non-sense mutation in the MECP2 gene, a previously reported mutation in Rett Syndrome.

Rett Syndrome is a neurodevelopmental disorder almost exclusively seen in females. While the disorder is typically characterized by loss of speech, stereotypical hand movements, and seizures, gastrointestinal and nutritional problems are seen in nearly all patients (Neul, JL, 2012; Motil, KJ et al., 1999). This may in part be due to MECP2 expression in the enteric nervous system in addition to autonomic dysfunction. As seen in this case, aerophagia is a common behavior associated with Rett (Morton et al, 2000), which can lead to severe abdominal distention that may mimic other gastrointestinal pathologies. The diagnosis of Rett in this case was particularly challenging since the patient did not exhibit the classic developmental trajectory of Rett, characterized by a period of normal development followed by regression. As in atypical Rett, lack of developmental regression does not rule out the diagnosis. In girls with developmental delay presenting with oropharyngeal or gastrointestinal dysfunction, the differential diagnosis should include Rett Syndrome.

 

1021  A CASE OF GUILLIAN-BARRE SYNDROME IN A 17-YEAR-OLD FEMALE WITH CROHN'S DISEASE

Rajitha D Venkatesh1, Rachel Erdil2, David Chad3, Esther J. Israel1, 1MassGeneral Hospital for Children, Boston, MA, USA, 2University of Massachusetts Medical School, Worcester, MA, USA, 3Massachusetts General Hospital, Boston, MA, USA

Purpose: The aim of this case report was to describe the unique presentation of Guillian-Barré Syndrome (GBS) in an adolescent with Crohn’s disease. Our patient is a 17-year-old female with Crohn’s disease maintained on Pentasa. She presented with four weeks of progressive ascending weakness and two weeks of daily fecal incontinence that was atypical of her colitis. She had a febrile upper respiratory infection two months prior to the onset of her neurologic symptoms and had a history of C. difficile colitis treated three times, most recently five months prior. On admission, she was afebrile and well-appearing, but her neurological examination revealed mild weakness of shoulder abductors and hip flexors, normal gait with mild difficulty on the tandem walk, and absent tendon reflexes with flexor plantar responses. Despite the lack of classic albuminocytologic dissociation in her lumbar puncture or electrophysiologic evidence of demyelination, she was given the clinical diagnosis of GBS based on the symptoms of progressive ascending weakness, mild symmetric proximal weakness, areflexia, MRI findings of cauda equina enhancement, and eletrophysiologic evidence of ongoing denervation and mild chronic reinnervation. Pentasa was held and she was treated with a 5 day course of IVIG with significant clinical improvement. By day 4 of IVIG, her weakness had stopped progressing, her fecal incontinence had resolved, and her Pentasa had been resumed. She was discharged home able to ambulate independently. Six weeks later she had mild hip flexor weakness with a follow-up electrodiagnostic study demonstrating complete resolution of the left median motor conduction block, and normalization of the peroneal and tibial motor responses; there was evidence for moderate chronic denervation in the lumbosacral myotomes. Three months after discharge, lab testing revealed negative anti-ganglioside antibodies, which are detected in some subtypes of GBS. By six months, her symptoms had completely resolved. The timeline of development of neurological symptoms and the lack of other preceding infections make us suspect that our patient developed GBS secondary to her Crohn’s disease. In a review of the literature, there have been three cases of GBS associated with Crohn’s, including one in a pediatric patient. The onset of neurological symptoms occurred during active colitis; in two cases, coinciding with the initial presentation of Crohn’s. Although there is no clear pathogenic mechanism linking GBS and Crohn’s, it is possible that molecular mimicry is involved. This mechanism has been seen in Campylobacter infections preceding GBS, where antibodies formed against a bacterial cell surface molecule cross-react with gangliosides on peripheral nerves, leading to damage of the myelin sheath and nerve conduction failure. Providers treating patients with Crohn’s disease should be aware of the association with GBS since early treatment with IVIG can significantly impact recovery.

 

1022  HEPATITIS BY THE HUMAN ROTAVIRUS CASE REPORT

Roberto Calva1, Maria-Eugenia Rivera1, Daniel Calva2, 1Medical School of Benemérita Universidad Autónoma de Puebl, Puebla, Mexico, 2University of Iowa, Iowa, IO, USA

Abstract. A 3-month-old infant that was diagnosed with hepatitis secondary to infection by the rotavirus. The rotavirus has been recognized as a human pathogen that has been associated with severe diarrhea, aseptic meningitis, necrotizing enterocolitis, acute miositis, hepatic abscesses, pneumonia, Kawasaki disease, sudden infant death syndrome, and inflammatory bowel disease such as Crohn’s. In this report we present another case of acute hepatitis secondary to the rotavirus, in an immunocompetent patient.

Introduction. The rotavirus has been recognized in the pathogenesis of human disease. McMaster reported the first case of hepatitis associated with the rotavirus in an immunocompetent patient. Ventura described the second case of hepatitis in an immunocompetent patient that developed acute hepatitis presumably due to the rotavirus. Few case reports that show the association of the human rotavirus with acute hepatitis have been described, in this case report we include a third case of acute hepatitis due to the rotavirus.

Clinical Case. The patient was a 3-month-old male, emesis, and sever dehydration. From birth, he suffered from allergic colitis to both milk, and soy protein. His condition was well controlled with hydrolyzed protein formula. He was hyperthermic. On physical exam he had sever jaundice and hepatomegaly, but no evidence or an acute abdomen. Vaccinations were not up to date, he received the polio and DPT vaccine, and was missing the rotavirus, and pneumococcal vaccine. Laboratory he showed an unremarkable neonatal metabolic panel, and the hepatitis A, B and C panels were non-reactive. Stool and blood tests were positive for the rotavirus, but negative for the adenovirus, salmonella, shigella, and campylobacter. Total bilirubin was 6.4 mg/dL, direct 4.77 mg/dL, ALT 247 UI/L, AST 193 UI/L, and GGT 304 OR/L. Hepatic ultrasound showed hepatomegaly with a homogeneous character.

Discussion. We present a third case of an inmmunocompetent patient in Mexico that developed hepatitis secondary to the human rotavirus. Traditionally the pathological sequence of infection has been considered to take place in the brush boarder of the enterocytes in the small intestine, which lead to the localized GI. Several associated complications from the rotavirus infection have been reported. In this case, it is hypothesized that the rotavirus took a more aggressive form due to easier access to the hepatic system since the fragile state of the enterocytes secondary to allergic colitis, and the lack of the protective effect of the mother's milk. In addition, the infant lacked the proper immunity, since he had not received the rotavirus vaccine.

 

1023  A VERY UNUSUAL GASTROINTESTINAL CAUSE OF VITAMIN E DEFICIENCY ATAXIA

Ronald J. Sokol, Edward Hoffenberg, Paul Moe, Diane J. Dovel, Frederick M. Karrer, University of Colorado School of Medicine and Children's Hospital Colorad, Aurora, CO, USA

An infant male was diagnosed with Alagille syndrome at three weeks of age when he presented with severe neonatal cholestasis, characteristic facies, aortic stenosis, and bile duct paucity on liver biopsy. He was initially treated with ursodeoxycholic acid, anti-pruritics and vitamin replacement which corrected multiple fat-soluble vitamin deficiencies. However, worsening pruritus, difficulty gaining weight and portal hypertension complications led to a liver transplant at age five years, using a whole liver graft and Roux-en-Y anastomosis. Following the liver transplant, he had multiple liver biopsies performed over the next 15 years for elevated liver blood tests, which showed mild to moderate cellular rejection and acute cholangitis. He was treated with tacrolimus, prednisone, mycophenolate mofetil and sirolimus over ensuing years. Biliary tree, vessels and Roux-en-Y were normal by ultrasound, MRCP and HIDA scanning. He had intermittent diarrhea and difficulty gaining weight; no gastrointestinal pathogens were found. Within 6 months of transplant, his serum alpha tocopherol (αT) levels (and αT to total serum lipid ratios) fell below normal range despite supplementation. 18 months after liver transplant his serum αT levels were unmeasurable despite supplementation with 1600 IU vitamin E per day (95 IU/kg/day). By age 9 years he had developed areflexia, decreased position and vibratory sensation, dysconjugate and reduced superior gaze, mild ptosis, ataxic gait, slurred speech, dysmetria and intention tremor. Ataxia progressed and at age 10 yr. he required a walker for ambulation and was home bound for school. Evaluation at age 9 yr by neurology included a normal brain MRI angiogram except for an old calcified cyst in the left thalamus; clinical diagnosis was vitamin E deficiency ataxic neuropathy. An oral vitamin E tolerance test performed with 100 IU/Kg of TPGS vitamin E (tocophersolen) showed a small increase of serum αT from <1.0 to 3.6 mcg/ml at 12 hours. 72 hour fecal fat was 32 g/24 hrs. Evaluation was negative for cystic fibrosis, abetalipoproteinemia, celiac disease, small bowel disease, pancreatic insufficiency, bile acid synthesis defects, cholestasis, lymphangiectasia, and allergic enteropathy. Treatment with 15 IU/kg/day of TPGS vitamin E starting at age 17 yr did not increase serum αT levels, however gradual improvement of neurologic function ensued. At age 22 years, he presented with abdominal distention and E. coli septic shock. At emergency surgery, the donor liver bile duct was found to be anastomosed to the terminal ileum, thus bile bypassed his entire small bowel. This was taken down and a hepaticojejunostomy Roux-en-Y was constructed. Subsequently, his serum αT levels rapidly normalized on 800 IU/d of vitamin E, stools became formed, he has gained weight, and liver tests normalized. His ataxia is continuing to improve 12 months later. This unique case demonstrates the dependence of vitamin E absorption on intraluminal bile acids.

 

1024  CLEARANCE OF HCV AFTER FIXED DOSE COMBINATION LEDISPAVIR/SOFOSBUVIR IN AN ADOLESCENT FEMALE WITH DECOMPENSATED CIRRHOSIS

Sara Kathryn Smith, Philip Rosenthal, University of California - San Francisco School of Medicine, San Francisco, CA, USA

Hepatitis C viral infection continues to be a worldwide health problem with significant morbidity and mortality. Currently the only FDA approved treatment for children with chronic HCV is pegylated interferon with ribavirin, which is associated with significant adverse effects. Hepatitis C treatment is rapidly evolving with attention now on new direct acting antiviral regimens with improved sustained virologic response rates and improved adverse effect profiles. Combination ledispavir/sofosbuvir was approved for the treatment of chronic HCV genotype 1 in adults in December 2013 and has shown promise in the treatment of adult patients with decompensated cirrhosis secondary to chronic HCV. In this report, we discuss the use of ledispavir/sofosbuvir to treat an adolescent with cirrhosis secondary to chronic HCV.