Hirschsprung’s Disease

Abstract

Hirschsprung’s disease is a congenital condition characterized by aganglionosis of a variable length of the intestine. This results from a failure or arrest of the normal caudal intermuscular neuroblast migration during embryogenesis to the distal intestine. Lack of mature ganglion cells and a functional myenteric nervous system leads to ineffective distal intestinal peristalsis and a resulting functional intestinal obstruction. The distal most rectum is always effected in Hirschsprung’s disease with the transition to normally innervated, ganglion-ated bowel occurring a variable distance proximally. Most commonly this transition occurs in the rectosigmoid area (>80%) but the whole colon (10%) and even the small bowel (<5%) may be involved. Alternatively, some patients may have “short segment” disease, a condition which can be difficult to diagnose, and may not become manifest until adolescence. Typically, the bowel just proximal to the aganglionic intestine is dilated and thickened due to its working against the distal obstruction.