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Hirschsprung's Disease

When part of the large intestine lacks nerve cells

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Updated July 06, 2008

The large intestine is affected in Hirschsprung's disease

The large intestine is affected in Hirschsprung's disease

Photo © A.D.A.M.
Hirschsprung's disease is a birth defect in which part of the large intestine lacks nerve cells. Without nerve cells, the muscles in that part of the intestine can't work properly. The symptoms of Hirschsprung's disease usually begin when a child is very young.

Hirschsprung's disease may occur by itself or as part of a syndrome or disorder that affects other parts of the body, such as Down syndrome (Trisomy 21). It is four times more common in males than in females, and occurs in about 1 in 5,000 births.

Symptoms of Hirschsprung's Disease

Since part of the intestine does not work properly, individuals with Hirschsprung's disease have problems with their bowel movements. The symptoms of the disorder are different for different ages.

Newborns

  • difficulty with their first bowel movement after birth
  • vomiting
  • swelling of the abdomen
  • discomfort from gas and constipation
Infants Childhood

Diagnosing Hirschsprung's Disease

Several types of tests may be used to tell if an individual has Hirschsprung's disease:
  • Barium enema x-ray
    Barium is put through the anus into the intestine via an enema; the barium makes the inside of the intestine show up better on the x-ray

  • Anorectal manometric examination
    A small balloon is inflated inside the rectum to check muscle pressures

  • Rectal biopsy
    A small sample of the intestine is removed and examined under a microscope to see if the nerve cells are present.
The biopsy is the most accurate test for Hirschsprung's disease and confirms the diagnosis.

Treatment of Hirschsprung's Disease

Since part of the intestine is lacking nerve cells and will never work properly, that part of the intestine is surgically removed. The remaining healthy intestine on either side is then connected. This is called a pull-through operation.

Some individuals, especially those who have been sick, may first have an operation called an ostomy. The diseased part of the intestine is removed, but the top part of the intestine is connected to the outside of the abdomen through an opening (called a stoma). The ostomy lets the intestine work normally and allows the individual to become healthy prior to the pull-through operation. When the pull-through is done, the ostomy is closed up because it is no longer needed.

Sources:

"What I need to know about Hirschsprung's Disease." National Digestive Diseases Information Clearinghouse (NDDIC). Oct 2004. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). 17 Sep 2007

"Hirschsprung's Disease." Index of Rare Diseases. 2005. National Organization for Rare Disorders. 17 Sep 2007

Wong, Donna, and Marilyn Hockenberry-Eaton. Wong's Essentials of Pediatric Nursing. 6th ed. St. Louis: Mosby, 2001.

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