Hirschsprung’s Disease

The defining characteristic of Hirschsprung’s disease (HD) is the absence of ganglion cells over a varying length of intestine. It always involves the rectum and extends proximally for an individually variable distance. The disease is limited to the recto-sigmoid colon in 75–80% of cases, though it may extend to the transverse colon in as many as 17% of cases, to the entire colon and terminal ileum in 5–8% of cases, and rarely even extend to include the entire intestinal tract to the duodenum in the rarest of cases. Male:female ratio is ∼4:1 for all cases, though this ratio trends toward 1.5:1 as the length of involved intestine increases. The incidence is estimated to be 1 in 5,000 live births.