Intestinal ganglioneuromatosis with the mucosal neuroma --medullary thyroid carcinoma-- pheochromocytoma syndrome. A case report and review of the literature.
A case of intestinal ganglioneuromatosis associated with medullary thyroid carcinoma, bilateral pheochromocytoma, mucosal neuromas and marfanoid habitus is reported. To our knowledge, only ten previous cases of intestinal ganglioneuromatosis associated with mucosal neuromas and medullary carcinoma of the thyroid have been reported. Our case represents the 11th such case, the seventh with the concomitant finding of pheochromocytoma and the second with documented parathyroid hyperactivity. The intestinal ganglioneuromatosis may represent a variation of the mucosal neuroma component of this rare syndrome and the multiorgan abnormalities may result from a genetically related disorder of a single cell system, the neural crest. The characteristic marfanoid habitus with the presence of mucosal neuromas raises the possibility of a serious underlying polyendocrine-neural disorder and should alert the clinician accordingly.
D000328:Adult; D002277:Carcinoma / Q000150:complications; D005260:Female; D005729:Ganglioneuroma / Q000150:complications*; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications; D008048:Lip Neoplasms / Q000150:complications; D008382:Marfan Syndrome / Q000150:complications*; D009378:Neoplasms, Multiple Primary / Q000150:complications*; D009463:Neuroma / Q000150:complications; D010673:Pheochromocytoma / Q000150:complications*; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000150:complications; D014062:Tongue Neoplasms / Q000150:complications