Hirschsprung's disease and variants

Abstract

Hirschsprung's disease (HD) is characterised by an absence of ganglion cells in the distal bowel and extending proximally for varying distances. The pathophysiology of Hirschsprung's disease is not fully understood. There is no clear explanation for the occurrence of spastic or tonically contracted aganglionic segment of bowel. The aganglionosis is confi ned to rectosigmoid in 75% of patients, sigmoid, splenic fl exure or transverse colon in 17% and total colon along with a short segment of terminal ileum in 8%. The incidence of HD is estimated to be 1 in 5,000 live births. The disease is more common in boys with a male-to-female ration of 4:1. The male preponderance is less evident in long-segment HD, where the male-to-female ratio is 1.5-2:1. © 2009 Springer Berlin Heidelberg.