Hirschprung's Disease

What Is Hirschsprung's Disease?

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:

• Congenital megacolon or megarectum
• Aganglionic megacolon
• Hirschsprung-Galant infantilism
• Mya's disease
• Ruysch's disease
• Colonic aganglionosis.

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 Symptoms

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.

Hirschsprung's Disease Diagnosis

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:

• Barium enema – injection of fluid into the rectum that makes the colon show up on an X-ray so the doctor can see abnormal areas in the colon.
• Biopsy – removal of a sample of the bowel tissue to check for ganglia (or the absence of ganglia).
• Anorectal manometry – a small balloon is inserted in the rectum to measure the pressures of the internal and external sphincter.

Hirschsprung's Disease Treatment

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:

• Colostomy – an opening into the colon is surgically created and brought to the abdominal surface. Stool contents are excreted through this opening and into a bag.
• Pull-thorough operation – the affected area of the colon is removed. Then the healthy colon is brought down to the rectum and joined to the rectal wall.
• Closure of the colostomy – the colostomy opening is closed, and bowel function gradually returns to normal.

In some cases, an intestinal transplant may be an option.

Learn more about other Intestine Transplant Disease States.