Chromosomal 1p36 Deletion: Inflammatory Bowel Disease, Sclerosing Cholangitis and Annular Pancreas

Abstract

Purpose: Chromosome 1p36 deletion occurs in approximately 1 in 5,000–10,000 live births. It is associated with psychomotor retardation, oropharyngeal dysphagia, cardiac malformations, sensorineural hearing loss, debilitating seizures and cranio-facial dysmorphism. There has been one case report in the literature of annular pancreas with malrotation associated with 1p36 chromosomal deletion. There are no reports of sclerosing cholangitis or inflammatory bowel disease (IBD). We report a 15 month old male with chromosome 1p36 deletion who was referred for evaluation of persistent leakage of gastric contents from the G-tube site. Inspite of acid suppression and changing the length and diameter of the gastrostomy tube he continued to have leakage. He also developed bloody diarrhea of non-infectious etiology and elevated liver functions. Esophagogastroduodenoscopy (EGD) revealed a generous duodenal bulb but the endoscope was easily advanced to the third portion of the duodenum. Upper gastrointestinal series (UGI) was normal. Colonic biopsies revealed cryptitis with no granulomas. Liver biopsy showed features of sclerosing cholangitis. He was started on steroids, 5-aminosalicylic acid and ursodiol with normalization of liver function tests and resolution of diarrhea. However, he continued to have formula leaking from his G-tube site. UGI was repeated which showed nonobstructing narrowing in the second part of duodenum with dilated first part of duodenum consistent with an annular pancreas. During exploratory laparotomy for duodenoduodenoplasty, an intraoperative cholangiogram was obtained which showed beading of the extra hepatic ducts confirming the diagnosis of sclerosing cholangitis. His liver function tests remained normal on azathioprine and ursodiol. Inspite of the duodenoduodenoplasty, he had ongoing G-tube drainage for which a feeding jejunostomy was placed. Conclusion: To our knowledge, this is a first report of such association of IBD, PSC and annular pancreas in such a young age with chromosome 1p36 deletion.