Aganglionic Megacolon, Pheochromocytoma, Megaloureter, and Neurofibroma

Hirschsprung’s Disease and Urinary Tract Infection: Unrecognized Association

“…Mega-ureter and aganglionic colon with pheochromocytoma and neurofi broma have also been reported [8]. Swenson noted a mega-ureter incidence of 5% in association with Hirsch sprung's disease, and a bladder capacity greater than normal was present in 50% of his patients with this dis ease [9], Though mega-ureter was not observed in the large series by Lebowitz and Bodian [4], their observation and that of Boggs and Kidd [ 10] that bladder innervation in patients with Hirschsprung's disease was normal sug gests that the megacystis and dilated ureters observed by others, though ill defined, may have been due to bladder outlet construction.…”

A study of the vesical ganglia in children and the relationship to the megaureter megacystis syndrome and Hirschsprung's disease

“…Of 11 cases of megaoesophagus investigated by Etzel (1942), three were said to have megaureter and two megacolon. The association of aganglionic colon, phaeochromocytoma, neurofibroma, and megaureter in a third was noted by Shocket and Teloh (1957). They attributed these to a widespread lesion of the neural crest.…”

Hirschsprung's Disease in a Family with Multiple Endocrine Neoplasia Type 2

“…To our knowledge, the association of MTC and Hirschsprungs disease has not been reported. In one case, however, pheochromocytoma was documented in a patient with megaloureter, aganglionic megacolon, and neurofibroma (21). The occurrence of colonic aganglionosis instead of ganglioneuromatosis with MEN is thus most unusual, and we considered the possibility that both anomalies could be present in different parts of the bowel (22).…”

“…There is variability in the combination of "rieurocristopathies", which include the following conditions: neuroblastoma, Von Recklinghausen's disease, pheochromocytoma, nonchromaffin paraganglioma, and MTC (26). Although Hirschsprungs disease has been found in association with pheochromocytoma on one occasion (21), other conditions associated with aganglionic megacolon such as neuroblastoma, Von Recklinghausens disease, neurofibroma, and more recently, Waardenburg syndrome, have been described (23,26,27).…”