Hirschsprung's disease: Clinical features

Abstract

Hirschsprung's disease (HD) is a relatively common cause of intestinal obstruction in the newborn [1]. It is characterized by absence of ganglion cells in the distal bowel beginning at the internal sphincter and extending proximally for varying distances. In the human fetus, neural crest-derived neuroblasts first appear in the developing esophagus at 5 weeks of gestation, and then migrate down to the anal canal in a craniocaudal direction during the 5th to the 12th week of gestation. The absence of ganglion cells in HD has been attributed to a failure of migration of neural crest cells [2, 3]. The earlier the arrest of migration the longer the aganglionic segment is. The absence of ganglion cells results in absent peristalsis in the affected bowel and the development of functional intestinal obstruction. © 2008 Springer-Verlag.