Hirschsprung's disease.

Abstract

H irschsprung's disease (HD) is a congenital disorder characterized by a lack of nerve cells (i.e., ganglion cells) in a portion of the colon of variable length (Kenny et al., 2010). During normal development, nerve cells start growing at the beginning of the bowel and grow toward the end of the bowel. Prior to birth, however, nerve cells may stop growing. In HD, the nerve cells do not reach the end of the baby's bowel. As a result, stool elimination fails to work properly after birth. ETIOLOGYThis condition of the lack of ganglion cells is called aganglionosis (Kenny et al., 2010). Most often, the areas missing the nerve cells are the rectum and the sigmoid (S-shaped) colon. In short-segment HD, nerve cells are missing from the last part of the large intestine. In long-segment HD, nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine. In rarer cases, nerve cells are missing in the entire large and small intestine (National Institute of Diabetes and Digestive and Kidney Diseases [NIDDKD], 2015).