Hirschsprung Disease

Condition Basics

What is Hirschsprung disease?

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

In children who have Hirschsprung disease, nerve cells are missing from part or all of the colon. Without nerve cells, the colon can't move stool correctly. This can cause trapped stool, serious inflammation of the colon, and narrowing of the rectum. In most cases, the disease affects the end part of the colon. But it can also affect other parts.

Most of the time, the disease is found soon after birth. And it can be linked to other medical problems that your doctor may want to check for.

In rare cases, it can be life-threatening.

What causes it?

Doctors don't know what causes Hirschsprung 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 of Hirschsprung disease can depend on how severe the problem is and how old the child is.

Most newborns pass stool within the first one or two days of their life. Problems passing stool can be a symptom of Hirschsprung disease.

Children who are diagnosed when they're older may have symptoms. Symptoms may include:

• A swollen belly.
• Trouble passing stool.
• Vomiting.
• Not wanting to eat.
• Constipation.
• Not gaining weight or growing.

How is it diagnosed?

Most children who have Hirschsprung disease are diagnosed 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.

If the doctor suspects that a child has the disease, the doctor will do some tests to find out more. These tests may include X-rays and a test to measure how well the muscles in the anus are working.

Sometimes these tests can provide enough information to make a diagnosis. But the doctor may confirm the diagnosis by taking a tissue sample (biopsy) from the rectum. The cells in the sample are then looked at under a microscope.

How is Hirschsprung disease treated?

Children with Hirschsprung disease need surgery. It's often done within the first days or month of life, soon after the disease is found.

During surgery, the doctor will remove the part of the colon that doesn't work right. Then, if possible, the doctor will connect the healthy part of the colon to the anus. This is called a "pull through" procedure. Most of the time, surgery can be done without making a large incision. Doctors can often do the surgery using tools put through small incisions in the child's stomach (laparoscopy). The doctor may also operate through the child's anus.

Rarely, some children may need an ostomy surgery. In this case, the doctor brings the healthy part of the colon through the wall of the belly. Then stool is collected in a bag attached to the outside of the child's body.

Some children have long-term (chronic) problems with stomachaches and bowel problems after surgery. But most of the time, these problems aren't severe.

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