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Gastrointestinal symptoms are known to occur in association with multiple endocrine neoplasia (MEN) type 2. Patients with the variant 2b are at special risk and show diffuse intestinal ganglioneuromatosis. Megacolon is frequently an early X-ray finding and is associated with hyperplastic ganglion cells and nerve plexuses. The unusual association of MEN type 2a with aganglionic megacolon is described in a kindred of 92 individuals. There were 15 cases of medullary thyroid carcinoma (MTC), one case each of pheochromocytoma and hyperparathyroidism, and eight cases of Hirschsprung's disease (five histologically proven). In these eight patients, the neonatal period was characterized by a delay in the passage of meconium. Three infants died from intestinal obstruction within the first 2 weeks of life. The diagnosis was missed in one girl who died despite laparotomy. Pull-through procedures were successfully performed in three other infants. The last individual suffered from constipation and several bouts of intestinal obstruction before being operated on at the age of 19. He was subsequently found to have MTC and underwent surgery, but recurrence was recently documented. The four living patients were reevaluated. Rectal manometry could not elicit internal sphincter relaxation, thus confirming the diagnosis of Hirschsprung's disease. Biopsies of the remaining colon contained normal ganglion cells and nerve fibers, thereby eliminating the possibility of aganglionosis and ganglioneuromatosis in different parts of the large bowel of the same individual. It is concluded that Hirschsprung's disease might be responsible for bowel obstruction in MEN type 2. In familial cases of aganglionic bowel, the possibility of MEN should be ruled out by family history and appropriate testing.
Verdy et al. (Wed,) studied this question.