Hirschsprung Disease

This 8-month-old girl presented with chronic constipation, which had begun during the neonatal period. She had her first bowel movement at 72 hours of age. Since then, she has had bowel movements once every 3 to 4 days. Her stools are pelletlike. Results of thyroid function tests done when she was a neonate were normal.

The patient was 65 cm tall (fifth percentile) and weighed 7 kg (tenth percentile). Her abdomen was grossly distended with dilated superficial veins and was tympanic to percussion; there was no guarding. The rectum was empty on examination. There was an explosive discharge of foul-smelling feces on withdrawal of the finger. Anorectal manometry showed an absence of internal sphincter relaxation with rectal distention. A rectal suction biopsy showed the absence of ganglion cells.

Alexander K. C. Leung, MD, and Justine H. S. Fong, MD, of Calgary, Alberta, made the diagnosis of Hirschsprung disease (congenital aganglionic megacolon). A proximal-end traverse colostomy was done. Definitive surgery, with resection of the aganglionic segment and a pull-through anastomosis, was performed when the child was 18 months old.

Hirschsprung disease results from an absence of ganglion cells in the submucosal (Meissner) plexus and the myenteric (Auerbach) plexus in one or more segments of the colon. This is caused by failure of migration of nerve cell elements from the neural crest in a cephalocaudal direction along the GI tract. The aganglionic segment is limited to the rectosigmoid in 75% of patients; in 10%, the entire colon lacks ganglion cells. In short-segment Hirschsprung disease, only the region of the internal sphincter is affected. Increased nerve endings in the aganglionic bowel result in high concentrations of acetylcholinesterase.

Hirschsprung disease is more common among males and in persons with Down syndrome. The condition may be complicated by toxic enterocolitis.