[Intestinal ganglioneuromatosis diagnosed in adult patients]

Intestinal ganglioneuromatosis is essentially described in children and rarely in adults. The purpose of this study was to evaluate the clinical pathological patterns of intestinal ganglioneuromatosis diagnosed in adult patients.

Ten patients were included in this study (6 men, 4 woman; mean age=55.4 years). The diagnosis was established from ileocolorectal biopsies (n=5) or from a surgical specimen (n=5). An immunohistochemical study was performed with antibodies directed against S100 protein, synaptophysin, PGP9.5, neurofilament, tau protein, c-Kit and c-Ret. Clinical symptoms, endoscopic data and outcome were retrospectively reviewed.

The diagnosis of intestinal ganglioneuromatosis was established solely on the basis of the microscopic examination in all 10 cases. Three patients presented with acute occlusion. The endoscopic examination showed unusual spasticity of the colon or colectasia in 5 cases, raspberry-like polyps in 2 cases and finger-like polyps in 3 cases. Ganglioneuromatosis was characterized by diffuse Schwann cell hyperplasia expressing S100 protein in close contact to nerve fibers expressing neurofilament, tau protein, synaptophysin, PGP9.5 and to ganglion cells expressing c-Ret. There was no hyperplasia of interstitial cells of Cajal. Intestinal ganglioneuromatosis was localized in the mucosa in 9 cases and extended through the entire intestinal wall in 1 case. The finger-like polyps corresponded to ganglioneuromatosis, while the raspberry-like polyps corresponded to adenomas. Two patients had von Recklinghausen's disease, 1 had multiple endocrine neoplasia type 2B and 1 had Cowden's disease. Intestinal ganglioneuromatosis was associated with nonfamilial adenomatous polyposis in 2 patients and colonic adenocarcinoma in 1 patient. The patients with finger-like polyps had no associated disease.

Intestinal ganglioneuromatosis in adults is distinctive from that in children. In adults, intestinal ganglioneuromatosis is always a microscopic diagnosis although finger-like polyps observed at colonoscopy may be suggestive. Gastroenterologists must be aware of the higher risk of occlusion and intestinal neoplasia.