Hirschsprung disease occurs when some of the nerve cells that are normally present in the wall of the intestine do not form properly during fetal development.

During digestion, intestinal muscles move food forward in a movement called peristalsis. In order for this movement to occur, special nerve cells called ganglion cells are required. Because these nerve cells are missing in children with Hirschsprung disease, normal peristaltic movement cannot occur.

Consequently, stool backs up, causing either partial or complete bowel obstruction.

Eventually, a bacterial infection can develop in the digestive tract, causing serious problems. Severe worsening of the obstruction can lead to a hole in the bowel (perforation) and severe infection.

All children with Hirschsprung disease require surgical treatment.