Hirschsprung's Disease

Hirschsprung's disease (also called congenital aganglionic megacolon) occurs when some of the intestinal nerve cells (ganglion cells) don’t develop properly, delaying the progression of stool through the intestines.

The intestine becomes blocked with stool, and your baby or child will be constipated (unable to have normal bowel movements). Often, a serious infection called enterocolitis can occur, which causes fever, pain, and diarrhea.

Symptoms of Hirschsprung's disease vary with age. Eighty percent of children with Hirschsprung's disease have symptoms in the first six weeks of life. However, children who only have a short segment of intestine that lacks normal nerve cells may not exhibit symptoms for several months or years. Their primary symptom is constipation.

Each child may experience symptoms differently, but common symptoms in infants include:

• Failure to have a bowel movement in the first 48 hours of life
• Abdominal distention (stomach bloating)
• Gradual onset of vomiting
• Fever
• Constipation or failure to pass regular bowel movements

Children who don’t have early symptoms may experience the following signs of Hirschsprung’s disease as they get older:

• Constipation that becomes worse with time
• Loss of appetite
• Delayed growth
• Passing small, watery stools
• Abdominal distention

While the exact cause of Hirschsprung’s disease is unknown, some research suggests that genetic factors may play a role — especially when longer lengths of intestine are involved or when someone else in the family also has the condition.

For instance, there is an increased chance that a couple will have a child with Hirschsprung's disease if one of the parents has the disease (the chances are higher if the mother is the one with Hirschsprung's disease). If a family has a child with Hirschsprung's disease, there is a 3 to 12 percent chance that another baby from the same parents will also have the disease.

Hirschsprung's disease occurs five times more frequently in boys than in girls. Children with Down syndrome have a higher risk as well.

Your child may need to undergo one or more tests to be properly diagnosed with Hirschsprung’s disease.

Most newborns will have the following tests:

• Abdominal X-ray: This test can show signs of obstruction, as well as swollen segments of the large and small intestine.
• Contrast enema: This procedure allows the doctor to examine the large intestine for abnormalities. A special dye that can be seen on X-rays is given via the rectum as an enema. This provides a clearer X-ray and gives your child’s doctor a better picture of what is going on.
• Rectal biopsy: This gives us a sample of the rectum to examine under the microscope for the presence or absence of ganglion cells and the presence of hypertrophic nerve trunks (thickened, enlarged bundles of nerve fibers).

There are other tests that, when abnormal, suggest that Hirschsprung's may be present. Your child may need to have more testing or a biopsy to confirm or to rule out this diagnosis.

At Boston Children’s, our surgeons frequently perform a single operation to fix intestinal obstruction when Hirschsprung's disease is initially diagnosed. The goal of the surgery is to remove the diseased section of the intestine and to pull the healthy portion of the intestine down to the anus.

This is called a pull-through procedure. In most cases, this surgery can be done with minimally invasive techniques. It can sometimes be performed entirely through the anus, leaving no scars at all. Your child’s surgeon can discuss different surgical techniques with you to determine the best option for your child.

It is not uncommon for children with Hirschsprung's disease to continue to have challenges after surgery. At Boston Children's, our gastroenterologists are dedicated to evaluating and caring for children who continue to have issues related to this disease.

These problems depend on how much unhealthy intestine needed to be removed during surgery and the current functioning of the colon, rectum, and anus.

Possible problems include:

• Intractable constipation
• Diarrhea
• Stool accidents
• Frequent episodes of infections (enterocolitis)
• Recurrent hospitalizations
• Severe abdominal distention (a very bloated stomach)
• Pain
• Inability to tolerate food
• Vomiting

Children who have had a large section of intestine removed may also experience long-term digestive problems. Removing a large segment of the intestine can prevent a child from getting adequate nutrients and fluids, leading to problems with improper digestion, slow growth, and infection.

If your child still having problems following a pull-through procedure, the following tests may be done to determine what is happening:

• Anorectal manometry: This non-invasive test measures rectal nerve reflexes, which are the key indicators of Hirschsprung's disease. This is the best test to decide if your child needs to have a biopsy.
• Abdominal X-ray: This test can show signs of obstruction, as well as swollen segments of the large and small intestine.
• Barium enema: This procedure is performed to examine the large intestine for abnormalities. A fluid called barium (a chalky liquid used to coat the inside of the organs so that they will show up on an X-ray) is given via the rectum as an enema. This provides a clearer X-ray and gives your child's doctor a better picture of what is going on.
• Biopsy of the rectum or large intestine: Your child's doctor will take a sample of the cells in your child's rectum or large intestine and look at them under a microscope.
• Colonic manometry: This test involves placing a catheter (thin plastic tube) into the colon to measure contractions.
• Colonic transit studies: This procedure uses X-rays to monitor the movement of markers through the intestine and colon.

Our team will provide a thorough evaluation to locate the problem using one or more advanced diagnostic tests, such as anorectal manometry, a barium enema, or a biopsy of the rectum or colon. These tests can provide doctors with a clear picture of how the colon is working after surgery and whether the repair was successful.

Our team of doctors will then collaborate on a treatment plan that may include:

• Medications to either slow the transit of the stool in the colon or to make it faster
• Injections of Botulinum toxin (Botox) into the anal sphincter to relax this muscle
• Other rectal interventions or surgical procedures that may include redoing previous operations
• Further removal of abnormal intestine
• Appendicostomy, a surgical procedure to flush out and empty the colon by creating an opening outside the belly
• Bowel management program

Hirschsprung's disease causes 15 to 20 percent of intestinal obstructions that occur in newborns. These obstructions require surgery, and the Colorectal and Pelvic Malformation Center and Motility and Functional Gastrointestinal Disorders Center at Boston Children’s specialize in the primary treatment and follow-up care of children with Hirschsprung's disease — specialists from the Department of Surgery treat children who need their first pull-through procedure.

After surgery, your child will be followed by a gastroenterologist to help address chronic constipation and other possible consequences of Hirschsprung's disease.

Sometimes, children aren’t diagnosed at birth and may later show symptoms of severe constipation and a distended abdomen. When this happens, they often are diagnosed with Hirschsprung's disease by a pediatric gastroenterologist.