Definition

Hirschsprung disease (HD) is when an area of the colon (large intestine) cannot push stool through as it should. This can lead to a partial or full blockage.

Causes    TOP

HD is present at birth. It is caused by missing nerve cells in the muscles of the colon. The nerve cells are needed to control muscle contractions that help move waste out of the body. It is not known why this happens. In some people, it may be due to a faulty gene.

Hirschsprung Disease Copyright © Nucleus Medical Media, Inc.

Risk Factors    TOP

HD is more common in boys. The risk of HD is also higher in children who have:

• Other family members with HD
• Down Syndrome
• Other birth defects

Symptoms    TOP

Symptoms often show soon after birth. HD that is less serious may not be noticed until later in life.

In newborns, problems may be:

• Failure to have a bowel movement within the first 24 hours of life
• Vomiting after eating
• Swelling of the belly

Problems found in older infants and children are:

• Severe constipation
• Diarrhea
• Growth delay

Diagnosis    TOP

HD is often diagnosed when an infant fails to have a bowel movement within 24 hours of birth. In older children, the doctor will ask about your child's symptoms and health history. A physical exam will be done.

The colon may need to be viewed. This can be done using an x-ray and special contrast material.

The bowel tissue may need to be tested. This can be done with a biopsy.

Treatment    TOP

HD needs to be treated with surgery. The earlier it is done, the better the results may be.

The goal of surgery is to remove the part of the colon that does not work the right way. Choices are:

• Pull-through—The inner layer of the affected colon area is removed. The healthy colon above the area is pulled down through the affected area. It can then be joined to the rectum so that stool can pass through.
• Colostomy or ileostomy—If the bowel is infected, damaged, or if a large area is being removed, an ostomy may be needed. A healthy part of the small intestine or colon will be cut just above the damaged area. The healthy intestine will be connected to an opening in the abdomen. Waste can pass through this opening to a bag. An ostomy gives the remaining colon time to rest and heal. A later surgery will be needed to reconnect the intestines.

Prevention    TOP

There are no known guidelines to prevent this health problem.