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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, 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.

How is it treated?

Children with Hirschsprung's disease need surgery to remove the diseased part of the large intestine. Surgery is often done within the first days or month of life, soon after the disease is found. Treatment may involve one or two surgeries:

• The first surgery removes the damaged part of the intestine and may create a colostomy or ileostomy so that the intestine can heal. (With an ostomy, stool leaves the body through an opening in the belly and collects in a bag.)
• If your baby gets an ostomy during the first surgery (not all babies do), a second surgery will be done to close the ostomy. This will allow stool to pass through the body normally again.

Most babies are in the hospital from a couple of days up to 1 week. Being involved in your baby's care while he or she is in the hospital may help you feel more comfortable when you take your baby home. Talk with the doctor about how to feed and care for your baby at home, and make sure you know what problems to watch for. It's normal to feel nervous, but don't be afraid to hold and handle your baby.

Some children have long-term (chronic) problems with stomachaches and bowel problems after surgery. But most of the time, these problems aren't severe. Depending on the problem, there are a number of treatment options. These include medicine, biofeedback, cognitive-behavioral therapy, and more surgery.

In a few cases, emergency surgery may be needed if a dangerous problem such as serious swelling of the small and large intestines (enterocolitis) occurs.