What is Hirschsprung disease?
Hirschsprung disease (HD) is a disease of the large intestine (colon) and results in a blockage of the intestine so that stool cannot pass through. HD usually occurs in children. Some children with HD can't have bowel movements at all, and the stool creates a blockage in the intestine. If HD is not treated, stool can fill up the large intestine, causing serious problems such as infection, bursting of the colon, and even death.
HD occurs in one of every 5,000 births, and more often in boys than in girls. It is sometimes associated with genetic diseases such as Down’s syndrome.
How does Hirschsprung disease cause constipation?
Normally, muscles in the large intestine push stool to the anus, where stool leaves the body. The intestine’s ability to push and relax is enabled by nerve cells in the intestine called ganglion cells. A person with HD does not have these nerve cells in part of the large intestine, creating the problems associated with the disease. Sometimes these nerve cells are missing from only a few centimeters, but they also can be missing from long segments of the large intestine.
For people with HD, the healthy muscles of the intestine push the stool until it reaches the rigid part of the intestine (the part without the nerve cells). At this point, the stool stops moving. New stool then begins to collect behind it.
Sometimes the ganglion cells are missing throughout the whole large intestine and even parts of the small intestine. When the diseased section of the intestine reaches or includes the small intestine, it is called long-segment disease. When the diseased section includes only part of the large intestine, it is called short-segment disease.
What causes Hirschsprung disease?
HD develops before a child is born. Normally, nerve cells grow in the baby's intestine soon after the baby begins to develop in the womb. These nerve cells grow down from the top of the intestine all the way to the anus. With HD, the nerve cells stop growing before they reach the end.
It is unclear why the nerve cells stop growing; however, there is no evidence that it is caused by the mother’s actions or activities while she is pregnant.
What are the symptoms of Hirschsprung disease?
Symptoms of HD usually show up in very young children. Sometimes, however, they don't appear until the teenage years or adult life. The most common symptoms include:
- Failure to pass meconium (contents of the fetal intestine) shortly after birth
- Failure to pass first stool within 24 to 48 hours after birth
- Constipation (possibly worsening over time)
- Abdominal swelling
- Vomiting (usually starts gradually)
- Watery diarrhea (in newborns)
- Poor weight gain
- Slow growth (in children under 5 years)
- Malabsorption (nutrients from food are not absorbed by the small intestine)
- Loss of appetite
How is Hirschsprung disease diagnosed?
HD is diagnosed after a thorough physical exam and some tests. During the physical exam, the doctor might be able to feel the abdomen and detect the area where the large intestine is blocked. The abdomen might also be swollen.
There are many tests a doctor might use to determine whether a child has HD. These include:
- Abdominal X-ray: looking for a bowel blockage
- Rectal exam: the doctor checks the rectum for a lack or impaction (build-up) of stool, as well as whether the anal canal feels narrowed.
- Barium enema X-ray: Barium is a contrast liquid that makes the intestine show up on the X-ray. For this test, barium is inserted into the intestine through the anus and then X-rays are taken. In places where the nerve cells are missing, the intestine looks too narrow. If a narrowed area of the large intestine shows on the X-ray, the doctor knows HD might be the problem.
- Manometry: This can be done in children of all ages, though toddlers may require sedation. During the test, the doctor inserts a small balloon inside the rectum and then inflates it. Under normal circumstances, the anal muscle will relax. If it doesn't, HD might be the cause.
- Biopsy: A biopsy is the most accurate test for HD. The doctor removes a tiny piece of the intestinal lining and then looks at it under a microscope. If the nerve cells are missing, HD can be confirmed.
How is Hirschsprung disease treated?
All children who have HD will need surgery to correct the condition. An operation known as pull-through surgery is performed by taking out the part of the intestine that doesn't work and connecting the remaining healthy part to the anus. After pull-through surgery, the child has a working intestine.
Many times, pull-through surgery can be done right after the diagnosis of HD. However, children who have been very sick might first need a surgery called an ostomy. During an ostomy procedure, the doctor takes out the diseased part of the intestine and creates a small hole (stoma) in the child's abdomen. The doctor then connects the top part of the intestine to the stoma. This enables stool to leave the body through the stoma while the bottom part of the intestine heals. Stool collects in a bag (which needs to be emptied several times a day) attached to the skin around the stoma. Some doctors prefer to perform an ostomy on every child before doing the pull-through surgery.
When the doctor is ready to do the pull-through surgery, he or she will disconnect the intestine from the stoma and attach it to the anus. Since the stoma isn't needed any more, the doctor will either repair it during the pull-through surgery or will wait about six to eight weeks to make sure that the pull-through surgery was successful.
In some cases, the doctor removes the entire large intestine and connects the small intestine to the stoma. This surgery is called an ileostomy. If the doctor leaves part of the large intestine and connects it to the stoma, the surgery is called a colostomy.
What is the prognosis (outlook) for patients who have Hirschsprung disease?
Most babies are more comfortable after having an ostomy performed because they can pass gas more easily and are no longer constipated. Older children, too, often feel more comfortable, though they might have trouble adjusting to the ostomy. Your child will be taught how to take care of the stoma and how to change the bag when needed. Most children can lead a normal life after surgery.
After the pull-through surgery, 90 percent of children pass stool normally. Some might have diarrhea for a while, but eventually the stool will become more solid and the child will need to go to the bathroom less often. Babies might develop a diaper rash from the diarrhea. Toilet training might be delayed, since the child learns how to use the bottom muscles only after pull-through surgery.
Older children might have accidents for a while after the surgery, but this will usually improve with time. Some children suffer from constipation that needs to be treated with stool softeners.
If my child has Hirschsprung disease, when should I call the doctor?
Infections can be very dangerous for a child with Hirschsprung disease, and it is important that parents remain watchful for signs. Infection of the large and small intestines (enterocolitis) can happen before or after pull-through or ostomy surgery. If this infection is not treated, it can become life-threatening.
The most common symptoms of infection include:
- Swollen abdomen
- Bleeding from the rectum
- Excessive fatigue/exhaustion
Another complication of surgery is injury (intestinal perforation) of the intestine. Intestinal perforation has many of the same symptoms as enterocolitis; however, it also causes severe abdominal pain, which can be made worse by any movement, and nausea.
If your child shows any of the symptoms of enterocolitis or intestinal perforation, call your child’s doctor immediately. Also call your child’s doctor if your child has abdominal pain or develops newer symptoms after treatment for HD.
- The National Institute of Diabetes and Digestive and Kidney Diseases: Hirschsprung Disease
- The United Ostomy Associations of America, Inc.: What is an Ostomy?
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 11/14/2016...#9844