Intestinal Ganglioneuromatosis with Peri-intestinal Neurofibroma Limited to the Gastrointestinal Tract Clinically and Morphologically Mimicking Crohns Disease

Abstract

Ganglioneuroma is a benign neurogenic tumor composed of ganglion cells, nerve fibers, and supporting cells. Intestinal ganglioneuromas are rare tumors more often identified in the adults as solitary polypoid ganglioneuromas, ganglioneuromatous polyposis and diffuse ganglioneuromatosis, presenting with abdominal pain, diarrhea, thickening of the bowel wall, and stricture formation. Diffuse ganglioneuromatosis is typically associated with multiple endocrine neoplasia, neurofibromatosis Type 1 and Cowden syndrome. In this case report, we describe a case of diffuse and polypoid ganglioneuromatosis along with peri-intestinal neurofibroma in a 30-year-old female with no syndromic afflictions. A 30-year-old female was investigated for recurrent alternating episodes of constipation and diarrhea since 15 days, associated with abdominal distension and palpable mass per abdomen. On contrast enhanced computed tomography abdomen and pelvis, multifocal strictures with subacute intestinal obstruction was noted with possibilities of Crohn’s disease or tuberculosis. Surgically resected terminal ileum and ascending colon had multiple linear ulcers, pseudopolyps, and cobblestone appearance. On histopathological examination of the resected specimen, diagnosis of intestinal ganglioneuromatosis (polypoid and diffuse) with suture granuloma and peri-intestinal neurofibroma was given. History elicited for similar prior complaints showed nonspecific ileocolitis on biopsy 2 years earlier. She also gave history of surgery for resection and anastomosis 6 years back. We report a patient with intestinal ganglioneuromatosis in whom clinical and radiological findings mimicked those of Crohn’s disease/tuberculosis. Despite its rarity, intestinal ganglioneuromatosis should be considered in patients with features suggestive of Crohn’s disease/tuberculosis on radiological investigations who have nonspecific mucosal biopsy findings and intractable symptoms despite medical treatment. Ganglioneuroma is a benign neurogenic tumor composed of ganglion cells, nerve fibers and supporting cells. In this case report, we describe a case of 30-year-old female with diffuse and polypoid ganglioneuromatosis along with peri-intestinal neurofibroma with no syndromic afflictions in whom clinical and radiological findings mimicked those of Crohn’s disease/tuberculosis. Despite its rarity, intestinal ganglioneuromatosis should be considered in patients with features suggestive of Crohn’s disease/tuberculosis.