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?
What are the symptoms?
Symptoms can depend on how severe the problem is and how old the child is. They may include:
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:
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:
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.
eMedicineHealth Medical Reference from Healthwise
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