What is Hirschsprung's disease?

Causes and Symptoms

Hirschsprung’s disease is caused when the lower part of the large intestine (colon), including the rectum, does not have the ganglion nerve cells to control the muscles that produce the contractions necessary for a bowel movement. Occasionally, the whole large intestine and even portions of the small intestine may be missing these nerve cells. The disease develops prior to birth. In the normal development of a fetus, the ganglion nerve cells grow from the top of the intestine down to the anus. For some unknown reason, the nerve cells stop growing at some distance down the intestine in children who are born with Hirschsprung’s disease.

The disease manifests itself most often in young children, although it can appear when an individual is a teenager or an adult. In an individual with Hirschsprung’s disease, the healthy upper portion of the colon pushes stool down until it reaches the affected part. The stool then stops. New stool backs up behind it. Severe constipation results. In some cases, the victim may not be able to have any bowel movements at all. Babies with Hirschsprung’s disease often vomit up bile and experience swollen abdomens after eating. Infections, particularly enterocolitis, may develop in the intestines, which has the potential of bursting the colon.

Treatment and Therapy

Diagnosis of the disorder is confirmed by a barium enema x-ray and a biopsy of the rectum. Barium makes the intestine show up better on an x-ray. Manometry is also often used by the doctor to diagnose the disease. In this procedure, a small balloon is inflated inside the rectum. If the anal muscle does not relax, the patient may have Hirschsprung’s disease.

A pull-through operation removes the affected area of the intestine. The remaining ends are joined together. After this surgery, 85 to 90 percent of the patients pass feces normally, although some may experience diarrhea or constipation for a period of time. Eating high-fiber foods can help reduce diarrhea and constipation. Since the intestine is shortened by the surgery, not as much fluid is absorbed by the body. Consequently, the patient will need to drink plenty of fluids.

Perspective and Prospects

Hirschsprung’s disease occurs in approximately 1 out of every 5,000 births. About 80 percent of patients are boys. Children with Down syndrome are at a high risk for developing the disorder.

Hirschsprung’s disease has been found to be hereditary, with the risk greater if the mother has the condition. Even if the parents have not had the disorder develop in their own lives, they may pass it on to their children. If one child in a family has the disease, other children are at greater risk to be born with it.

Bibliography

Eichenwald, Heinz F., Josef Ströder, and Charles M. Ginsburg, eds. Pediatric Therapy. 3d ed. St. Louis, Mo.: Mosby Year Book, 1993.

Holschneider, Alexander M., and Prem Puri, eds. Hirschsprung’s Disease and Allied Disorders. 3d ed. New York: Springer, 2008.

Kaneshiro, Neil K. "Hirschsprung Disease." MedlinePlus, November 13, 2011.

Icon Health. Hirschsprung’s Disease: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. San Diego, Calif.: Author, 2004.

Núñez Núñez, Ramón. Hirschsprung's Disease: Diagnosis and Treatment. New York: Nova Biomedical Books, 2006.

Parisi, MA. "Hirschsprung's Disease Overview." NCBI, November 10, 2011.

Wallace, A. S., and R. B. Anderson. "Genetic Interactions and Modifier Genes in Hirschsprung's Disease." World Journal of Gastroenterology 17, 45. (December 7, 2011): 4937–4944.