P-168 YI Inflammatory Colitis in an Infant

Abstract

BACKGROUND: We present the case of an 8 month old female with 15q deletion and chronic colitis. She was born at 32 weeks gestation, discharged home 2 weeks after delivery on breast milk. She was readmitted at 6 weeks of life with diarrhea containing streaks of blood and mucous. The diarrhea initially responded to elemental formula. She presented again to the hospital at 9 weeks of life with poor feeding, weight loss, vomiting and bloody stools. A full septic workup was performed that was normal. Stool infectious studies were negative. She underwent EGD and flexible sigmoidoscopy which demonstrated a normal esophagus, stomach and duodenum. There were patchy areas of ulcerated mucosa in the rectosigmoid. Biopsies revealed lamina propria hypercellularity, crypt architectural distortion, crypt loss, active cryptitis and crypt abscesses. Despite nasogastric feeds with elemental formula she continued with profuse bloody diarrhea and was subsequently placed on bowel rest with total parenteral nutrition. However, there was no improvement. (Figure presented) She was started on oral steroids which were then increased to 2 mg/kg/day of intravenous methylprednisolone. She underwent repeat endoscopic evaluation a week after high dose steroids were started that demonstrated improvement in gross appearance of colon but with continued crypt architectural distortion and crypt abscesses. She underwent an upper GI study with small bowel follow through that was normal. She was started on half strength elemental feeds and gradually advanced to full strength formula. She continued to have emesis and was switched to nasojejunal feedings which she tolerated better. She demonstrated weight gain on a combination of TPN, IV steroids and jejunal feeds. She underwent her third endoscopy after being on steroids for 6 weeks which demonstrated inactive chronic colitis with mild crypt architectural distortion and lamina propria hypercellularity. She was started on 50 mg/kg/day of sulfasalazine with steroid taper. During her hospitalization she required 2 blood transfusions for microcytic anemia and was on enteral iron supplementation. She did not have any skin manifestations except for a scalp hemangioma. Immunologic workup included the following: NBT test, mitogen stimulation test, lymphocyte enumeration panel, CD45 RO/RA, HIV, newborn screen for SCID, CH50, AH50, MBL. These tests were normal. She did have a low Immunoglobulin G level. IL10/IL10R mutation analysis was negative. IBD serology was negative for ASCA, pANCA, Anti OmpC, Anti CBir1, Anti FlaX, Anti A4 Fla2. Anti-enterocyte antibody was negative. After 3 months of hospitalization, she was successfully weaned off TPN and was discharged home on nasojejunal feeds. At follow up, she continues to have a significant oral aversion, diarrhea has resolved. She remains on sulfasalazine alone. Her immunoglobulins are trending down and further immunologic workup is ongoing. In conclusion, this is an intriguing case of severe colitis presenting in infancy that did not respond to elemental formula and TPN. We presume that this is one of the phenotypes of infantile IBD with clinical response to sulfasalazine.