First Case of Refractory Celiac Disease and Ulcerative Jejunitis in a Child Revealed By Capsule Endoscopy

Abstract

Celiac disease is defined as a gluten sensitive enteropathy, which in most cases improves on a gluten free diet. Refractory celiac disease is a rare condition in which the small bowel enteropathy persists despite being on a strict gluten free diet and may be associated with ulcerative jejunitis and can predispose to enteropathy associated T-cell lymphoma (EATL). We present a 9-year-old girl who first presented with a history of persistent abdominal pain and vomiting, a normal CBC and albumin. The patient was found to have selective IgA deficiency, yet a slightly positive IgA anti-tissue transglutaminase and positive anti-endomyseal antibody tests, as well as an elevated serum total IgE level. An initial endoscopy revealed a few aphtous ulcerations in the bulb. Histology of the duodenum revealed patchy increased eosinophilic infiltrates (30-40/HPF) with glandular infiltration. There was also patchy mild villous blunting, and mildly increased intraepithelial lymphocytes (IEL) focally. A colonoscopy was macroscopically normal, but histology also showed focal areas with mild active colitis, characterized by eosinophilic infiltrates in the lamina propria. The findings were not considered diagnostic of Crohn's or celiac disease. She was confirmed to be HLADQ2 positive. A wireless videocapsule endoscopy (CE) was then performed, which revealed features typical of celiac disease: delayed appearance of villi in mid jejunum; scalloping of folds with a mosaic pattern to the proximal small bowel mucosa. Surprisingly, several fibrin-covered and actively bleeding mucosal ulcerations were seen in the jejunum. The ulcerative jejunitis was confirmed by push enteroscopy. Histological findings now confirmed typical findings of celiac disease in the distal duodenum and jejunum to 115 cm (subtotal villous atrophy, increased crypts and IEL) focally, with spared areas. T cell markers were normal and no clonality suggestive of EATL were found. After 6 months on a gluten free diet, a repeat CE revealed notable improvement but persistence of fewer jejunal ulcerations and areas with villous atrophy. A repeat push enteroscopy was performed and repeat samples for T-cell markers and clonality are pending. Ulcerative jejunitis due to refractory celiac disease has never previously been reported in the pediatric age group (<21 years). The use of CE was of utmost importance in this child, as we would not have otherwise diagnosed the ulcerative jejunitis.