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    Hirschsprung's Disease - Topic Overview

    What is Hirschsprung's disease?

    Hirschsprung's disease is a birth defect that affects the nerve cells in the large intestine. These nerve cells control the muscles that normally push food and waste through the large intestine.

    In babies who have Hirschsprung's disease, the muscles in the wall of the large intestine don't relax camera.gif, which prevents stool from passing. This can lead to trapped stool, infection, pain and swelling, and bowel problems.

    Most of the time, the disease is found soon after birth. It occurs in about 1 out of every 5,000 newborns and is most common in male babies.1

    In rare cases, the disease can be life-threatening.

    What causes Hirschsprung's disease?

    Doctors don't know what causes the disease, but it tends to run in families. It may also be linked to other medical problems, such as Down syndrome and congenital heart disease.

    What are the symptoms?

    Symptoms can depend on how severe the problem is and how old the child is. They may include:

    • A swollen belly.
    • Problems passing stool. Newborns with the disease may not pass their first stool until at least 48 hours after birth.
    • Vomiting.
    • Not wanting to eat.
    • Constipation.
    • Not gaining weight or growing.

    Hirschsprung's disease can lead to serious and even life-threatening problems if it is not found early. Be sure to take your baby for regular checkups, and talk to your doctor if you have concerns.

    How is Hirschsprung's disease diagnosed?

    Most children are diagnosed with Hirschsprung's disease during their first year. A doctor may think that a child has the disease based on the child's symptoms and the results of a physical exam.

    Other tests may be done to confirm the diagnosis, such as:

    • A tissue sample from the rectum (biopsy).
    • An abdominal X-ray.
    • An X-ray of the large intestine (barium enema).
    • Anorectal manometry. In this test, a small tube is inserted into the rectum to measure how well the muscles in the anus are working. If the muscles don't relax, it can sometimes be a sign of Hirschsprung's disease.
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