Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes

Abstract

Gastrointestinal tract involvement by neurofibromatous lesions is rare and occurs most frequently as one of the systemic manifestations of generalized neurofibromatosis type 1 (NF1). In this setting, the lesions may manifest as focal scattered neurofibromas or as an extensive diffuse neural hyperplasia designated ganglioneuromatosis. Occasionally, such lesions may be the initial sign of NF1 in patients without any other clinical manifestations of the disease. Rarely, cases of isolated neurofibromatosis of the large bowel with no prior or subsequent evidence of generalized neurofibromatosis have been documented. We present the case of a 52 year-old female with abdominal pain and alternating bowel habits. Colonoscopic evaluation revealed multiple small polyps in the cecum and the presence of nodular mucosa in the colon and rectum. Pathologic evaluation of the biopsies from the cecum, descending colon, sigmoid colon, and rectum revealed tangled fascicles of spindle cells expanding the lamina propia leading to separation of the intestinal crypts. Immunohistochemical stains helped confirm the diagnosis of diffuse intestinal neurofibromatosis. A thorough clinical evaluation failed to reveal any stigmata of generalized neurofibromatosis. This case represents a rare presentation of isolated intestinal neurofibromatosis in a patient without classic systemic manifestations of generalized neurofibromatosis and highlights the need in such cases for close clinical follow-up to exclude neurofibromatosis type I or multiple endocrine neoplasia type II.

Intestinal ganglioneuromatosis: an unusual aetiology for occult gastrointestinal bleeding

“…Diffuse IGNM most commonly involves the colon, appendix and terminal ileum,3 as was the case in our patient, in whom the lesion affected an ileal segment. The clinical, radiographic and histological findings of ganglioneuromatous lesions are not specific to NF1 or MEN 2b, and identical features have been reported as an isolated finding in patients with no evidence of systemic disease 2 6 8 9. This was the case with our patient.…”

“…However, changes in the innervation of the intestinal wall due to hyperplasia of the myenteric plexus and other structures of the autonomic nervous system, determine segmental changes of intestinal contraction, leading to a tubular aspect of the lumen 2. Ulceration due to erosion of the epithelium over the surface of lesions has been described, particularly in large solitary lesions 9. Similar to our case, IGNM can appear as an ulcerated stenosis, and some differential diagnoses should be ruled out, namely Crohn’s disease, cytomegalovirus infection, intestinal tuberculosis, intestinal tumours (gastrointestinal stromal tumour, lymphoma, adenocarcinoma), chronic ischaemia, NSAIDs enteropathy and amyloidosis.…”

“…The clinical presentation and long-term evolution of this particular case were not suggestive of a malignant cause, but considering the unspecific endoscopic findings, the absence of radiological changes and the low incidence of IGNM, the definite diagnosis was almost impossible without histological confirmation. Endoscopic biopsies are the mainstay of diagnosis, but when used in an attempt to sample deep-seated lesions, the biopsies may yield only unaffected overlying bowel mucosa or minimally diagnostic superficial lesional tissue 9. In the current case, there were many doubts as to whether the jejunal ulcer biopsied in the double balloon enteroscopy corresponded to the ulcerated stenosis revealed in the capsule endoscopy, because the size and consequent narrowing of the lumen were not equivalent.…”

“…Similar to what happens in radiological methods, the endoscopic appearance of IGNM depends on the focal or diffuse nature of the lesions. As the lesions arise deep in the epithelium, they manifest as single or multiple subepithelial masses of variable size and distribution 9. However, changes in the innervation of the intestinal wall due to hyperplasia of the myenteric plexus and other structures of the autonomic nervous system, determine segmental changes of intestinal contraction, leading to a tubular aspect of the lumen 2.…”

Isolated colonic neurofibroma revealed by a painful abdominal mass

“…12 The radiology has not, either, shows diffuse thickening, the single or multiple discrete lesions of the intestinal wall or the mesentery, evocative of neurofibroma according Carter JE and Baurini JA. 13 The diagnosis very difficult in this context was revealed by histological examination of the surgical specimen. Treatment of colic neurofibromas is surgical, and depends, on the seat, size of the lesion and local conditions.…”