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Hirschsprung disease is a heterogeneous disease that is caused by a variety of genetic mutations and is characterized by the absence of ganglion cells that are present in the distal intestine. The missing nerve cells result in a lack of peristalsis and functional intestinal obstruction.

The disease affects approximately one in 5,000 infants. The treatment of Hirschsprung disease is primarily surgical, and involves resection of the aganglionic bowel and reconstruction using one of several techniques: the Swenson, Soave and Duhamel procedures.

Although there have been many advances in the diagnostic and surgical approaches for Hirschsprung disease, many of these children continue to have ongoing functional problems even after surgical correction. The most common postoperative complications are persistent obstructive symptoms, soiling and Hirschsprung associated enterocolitis.

To best treat these children and accurately identify the problem, the latest diagnostic techniques are implemented, including contrast enema and anorectal manometry. A definitive diagnosis is based on a rectal biopsy.

Clinical Presentation of Hirschsprung Disease

The Latest Diagnostic Techniques for Children with Symptoms of Hirschsprung Disease

Congenital Abnormalities Associated with Hirschsprung Disease

Surgical Treatment for Hirschsprung Disease

Post Operative Problems After Surgery for Hirschsprung Disease

Long-term Outcomes for Children with Hirschsprung Disease

The Future of Treatment for Hirschsprung Disease Through Innovative Research