Pseudo and true Hirschsprung's disease in one family.
A case of a 35-yr-old woman with the characteristics of pseudo-Hirschsprung's disease is presented. The diagnosis was based on the following criteria: a history of chronic constipation since early infancy, a largely distended abdomen and an adynamic distal colon. The patient had a normal anosphincteric relaxation reflex and normal rectal myenteric ganglion cells. Resection of the distended large bowel failed to relieve the symptoms and was followed by distention of the entire small bowel. Complete cure was achieved after a Duhamel procedure. This patient is an adult, unlike the previously reported cases. Of special interest is the occurrence of true Hirschsprung's disease in one of her children.
D000328:Adult; D003108:Colonic Diseases / Q000175:diagnosis / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007415:Intestinal Obstruction / Q000175:diagnosis / Q000601:surgery; D008531:Megacolon / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome