Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b.
Although the syndrome of multiple endocrine neoplasia, type 2b, is known to comprise mucosal ganglioneuromatosis, medullary thyroid carcinoma, pheochromocytoma and skeletal anomalies, we wish to document the importance of the alimentary-tract components. In nine patients with this syndrome, we found diffuse ganglioneurmatosis extending from the lips to the rectum. Alimentary symptoms, constipation or diarrhea or both were present in six of these patients. Similar symptoms were present in six of seven other affected patients from whom alimentary-tract tissue was not obtained. Five of the 16 patients had megacolon, which led to operation in four, and a sixth patient had colectomy for diverticulitis complicating diffuse diverticulosis. The alimentary manifestations warrant greater emphasis, not only because they were prominent in the patients whom we studied but also because in 14, these manifestations were present before the endocrine neoplasms were detected.
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000473:pathology; D000328:Adult; D002277:Carcinoma / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003248:Constipation / Q000150:complications; D003967:Diarrhea / Q000150:complications; D004700:Endocrine System Diseases / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D005729:Ganglioneuroma / Q000473:pathology*; D005770:Gastrointestinal Neoplasms / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000473:pathology; D009369:Neoplasms / Q000473:pathology*; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D010673:Pheochromocytoma / Q000473:pathology; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000473:pathology