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Hirschsprung's disease is a rare congenital disorder that causes an obstruction (or blockage) of the intestine. This prevents normal bowel movements. You might hear doctors refer to this condition with other names, such as:
Children with Hirschprung's disease do not have certain nerve cells, called ganglia, in the walls of their bowels (another word for intestines). These nerve cells help relax the bowel (or intestinal) wall to allow fecal matter to move through the colon. The absence of ganglia is due to a genetic problem. When a child has Hirschsprung's disease, his colon stays contracted, so that bowel contents build up behind the blockage. The condition usually affects the last 1–2 feet of the colon that ends with the rectum.
Hirschsprung's disease often occurs in children with Down syndrome, and usually affects males. Boys with Down syndrome who have family members with the disease are at the highest risk.
Hirschsprung's disease is usually diagnosed during infancy, but can also be diagnosed later. Symptoms can differ with age.
Parents might notice that their newborn does not have his first bowel movement within the first 48 hours of life. The baby may vomit after eating (beyond normal "spitting up"), and have a swollen belly.
Young children with Hirschprung's disease often suffer from severe constipation or diarrhea. Your child's doctor might tell you that your child is anemic, which means that his blood contains significantly fewer than normal red blood cells). Another symptom in young children is delayed growth.
Teenagers with this disease will have experienced severe constipation for most of their lives, and may also have anemia.
Most cases of Hirschsprung's disease are diagnosed in infancy, although some may not be diagnosed until adolescence or early adulthood.
Hirschsprung disease in young children often leads to symptoms of severe constipation or diarrhea. Your child's doctor may use the following tests to rule out or diagnosis Hirschprung's disease:
The primary treatment for Hirschsprung's disease is surgery to remove the affected portion of the colon. There are three potential phases to the surgery, but all three phases may not be needed. Your doctor will discuss the best methods for your or your child's condition. The three phases are:
In some cases, an intestinal transplant may be an option.
Learn more about other Intestine Transplant Disease States.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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