INTESTINAL NEURONAL DYSPLASIA IN TWINS

Intestinal neuronal dysplasia (IND) has been described proximal to the aganglionic segment in Hirschsprung's disease and less frequently as an isolated condition. Familial occurrence of IND is rare. We report a case of monozygotic twins affected with IND. One-year-old male monozy gotic twins presented with a history of chronic constipation and abdom inal distension since birth. At presentation, both twins had fecal imp action with palpable fecal-filled loops of bowel. Barium enema in both patients showed gross fecal loading of the sigmoid colon and rectum. Delayed films taken at 48 h showed marked barium retention. Suction re ctal biopsy specimens examined by acetylcholinesterase (AChE) histoche mistry in both patients showed moderately increased AChE-positive nerv e fibers in the lamina propria, muscularis mucosae, and around submuco sal blood vessels, as well as hyperplasia of submucous plexus with for mation of giant ganglia. Both children underwent extended internal sph incter myectomy. Six months later, both patients had normal bowel func tion. The occurrence of IND in twins suggests that genetic factors are involved in the etiology of this disease.