Double-balloon enteroscopy for the detection of diffuse small-bowel polypoid ganglioneuromatosis mimicking Crohn's disease in a patient with von Recklinghausen disease

A 51-year-old woman with an 8-month history of recurrent episodes of abdominal pain, mild bloody diarrhea, andweight loss (6kg in 3 months) was referred to our unit for evaluation of suspected Crohn’s disease. She had carried a diagnosis of type 1 neurofibromatosis for 30 years. Physical examination revealed multiple cafe-au-lait spots and multiple cutaneous neurofibromas. Her abdomen was mildly tender in the lower abdomen with no detectable palpable mass. Laboratory test results were as follows: hemoglobin level 9.6g/dL, sedimentation rate 40mm/h, C-reactive protein 23mg/dL. Other biochemical tests were unremarkable. A colonoscopy revealed a normal-appearing colon and an edematous terminal ileum with a 1-cm pedunculated polyp covered by exudate (●" Fig.1). A magnetic resonance enterography showed thickening of the jejunum and terminal ileum, and a pedunculated polyp, about 1cm in diameter, located in the terminal ileum (●" Fig. 2). An oral double-balloon enteroscopy showed multiple, raspberry-like, 3–5mm, sessile polyps, which were covered by faint exudates located in the proximal jejunum (●" Fig.3). Biopsies of the polyps in the jejunum and ileum revealed intestinal ganglioneuromatosis. Type 1 neurofibromatosis, also known as von Recklinghausen disease, may affect the gastrointestinal tract in 25% of patients in whom intestinal neurofibromas, gastrointestinal stromal tumors, or ganglioneuromatosis can be detected [1,2]. Intestinal ganglioneuromatosis is a rare neoplastic condition characterized by proliferation of nerve ganglion cells, nerve fibers, and supporting cells of the enteric nervous system. It occurs in three forms: as an isolated polyp, as multiple polyps (ganglioneuromatous polyposis), and as diffuse involvement of the bowel wall (diffuse intestinal ganglioneuromatosis) [1]. The disease may affect any part of the gastrointestinal tract. The most common symptoms are abdominal pain, change in bowel habit, diarrhea, and gastrointestinal bleeding, which resemble Crohn’s disease.