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Hirschsprung Disease

Changing poopy diapers is one of those unpleasant tasks of parenting that most people are able to joke about. But when your baby is unable to poop, this topic is no laughing matter.

Babies who have trouble emptying their bowels sometimes have a problem called Hirschsprung disease. Treatment for this condition almost always requires surgery. Fortunately, most children who undergo surgery are fully cured and able to pass bowel movements normally.

About Hirschsprung Disease

Hirschsprung (say "HERSH-sproong") disease affects the large intestine (colon) of newborns, babies, and toddlers. The condition — which prevents bowel movements (stool) to pass through the intestines due to missing nerve cells in the lower part of the colon — is caused by a birth defect. Most of the time, the problems with pooping start at birth, although in milder cases symptoms may appear months or years later.

Hirschsprung disease can cause constipation, diarrhea, and vomiting and sometimes lead to serious colon complications, like enterocolitis and toxic megacolon, which can be life threatening. So it's important that Hirschsprung disease be diagnosed and treated as early as possible.

Causes

The large intestine moves digested material through the gut by a series of contractions called peristalsis. This is controlled by nerves in between the layers of muscle tissue in the intestine.

Children who have Hirschsprung disease are missing those nerves along part of the length of their colons. This prevents the colon from relaxing, which can cause a blockage of digested material and make it difficult to pass stool.

Hirschsprung disease can affect the entire large intestine, which is called long-segment disease, or it can affect a shorter length of the colon closer to the rectum (short-segment disease). It's more common for nerve cells to stop developing closer to the rectum, since in the womb cells develop on a pathway that starts at the top of the large intestine and ends at the end, near the rectum. (So, with Hirschsprung disease, nerve cells just stop developing while on that pathway.)

Doctors aren't entirely sure why some children get Hirschsprung disease, but they do know it can run in families and affects boys more often than girls. In fact, Hirschsprung disease is about five times more common in males than females. Children with Down syndrome and genetic heart conditions also have an increased risk of Hirschsprung disease.

Symptoms

The symptoms of Hirschsprung disease may vary depending on the severity of the condition. Children with severe cases will usually have symptoms within the first few days of life. Milder cases may not be detected until later.

Newborns with Hirschsprung disease may show these signs:

  • inability to pass stool within the first or second day of life
  • swollen belly, bloating, or gas
  • diarrhea
  • vomiting, which may include vomiting a green or brown substance

Inability to pass stool within the first 48 hours of life is often the key to detecting Hirschsprung disease in a newborn. This red flag can be very valuable in diagnosing the condition.

Less severe cases of Hirschsprung disease may go unnoticed until later childhood, or sometimes even adolescence or adulthood. The symptoms in these cases are usually milder but can be long-lasting, chronic conditions. Symptoms may include:

  • abdominal swelling
  • constipation
  • difficulty gaining weight
  • vomiting
  • gas

Because Hirschsprung disease can affect the body's ability to absorb nutrients, growth may be delayed in older kids who have it.

Diagnosis

To diagnose Hirschsprung disease, doctors often perform a test called a barium enema. Barium is a dye that is put into the colon using an enema. The barium shows up better on X-rays and can help doctors get a clearer picture of the colon. (In kids with Hirschsprung disease, the intestine usually appears too narrow where the nerve cells are missing.)

In some cases, the doctor might do a rectal suction biopsy. This test, which can often be done in the office, involves using a suction device to remove some cells from the colon's mucous lining. This test will reveal whether nerve cells are missing and can help make the diagnosis of Hirschsprung disease.

For older kids, doctors may use different tests, such as manometry or a surgical biopsy. Manometry is a test in which a balloon is inflated inside the rectum to see if the anal muscle relaxes as a result. If the muscle doesn't relax, the child may have Hirschsprung disease. In a surgical biopsy, the doctor removes a sample of tissue from the colon to examine under a microscope.

Treatment

Surgery is thought to be the most effective treatment for Hirschsprung disease. This can be done in one step or two, depending on the condition's severity. Children who are too sick at the time of surgery (due to an inflamed colon or poor nutrition) may need to undergo surgery in two steps.

The most common surgery to correct Hirschsprung disease involves removing the section of the colon without nerves and reattaching the remaining portion of the colon to the rectum. Often, this can be done through minimally invasive (laparoscopic) surgery immediately after the condition is diagnosed.

In some cases, the doctor may wish to perform the surgery in two steps. In the first step, the doctor will remove the unhealthy portion of the colon and then perform a procedure called an ostomy. In an ostomy, the doctor creates a small hole, or stoma, in the child's abdomen and attaches the upper, healthy portion of the colon to the hole.

The two types of ostomy are:

  1. Ileostomy: removing the entire large intestine and connecting the small intestine to the stoma
  2. Colostomy: removing just a portion of the colon

The child's stool passes through the stoma into a bag that is connected to it and needs to be emptied several times a day. This allows the lower part of the colon to heal prior to the second surgery. In the second surgery, the doctor closes up the hole and attaches the normal portion of the colon to the rectum.

After surgery, kids often get constipated. They should be given a diet of high-fiber foods to help with this problem. Drinking plenty of water also can help as well as prevent dehydration. The large intestine helps absorb water from food, so dehydration can be a concern for children who have had a portion of their intestine removed.

Laxative medications can offer some relief from constipation. Talk to your doctor about which laxatives would be best for your child if you decide to use them.

Kids who continue to have symptoms or develop new ones after surgery (such as explosive and watery diarrhea, fever, a swollen belly, or bleeding from the rectum) should be given medical attention right away. These can be signs of enterocolitis, an inflammation of the intestines.

Outlook

The general prognosis for children who have been treated surgically for Hirschsprung disease is excellent. After surgery, most can pass stool normally and have no lingering complications. However, a few kids might continue to have symptoms, including constipation and bowel control problems.

Reviewed by: J. Fernando del Rosario, MD
Date reviewed: October 2011