Hirschsprung's Disease

Hirschsprung’s disease (HD) is a disease of the large intestine (also called the colon). It occurs before the child is born, and the cause is unknown. We do know that it’s not the mom’s fault – HD isn’t caused by anything a mother did while she was pregnant. Sometimes, children with HD have other problems, like Down syndrome. Usually it is discovered when a child is young, but occasionally, it is found in teenagers.

HD causes constipation, which means that bowel movements are difficult. In fact, some children cannot move their bowels at all. This creates a blockage in the intestine. If not treated, the stool can fill up the large intestine. This can cause serious problems such as infection, bursting of the colon and even death.

Other symptoms may include a baby being fussy, gagging frequently or spitting up a green fluid called bile. A baby’s abdomen may swell after eating, and he or she may get intestinal infections. When the parents take the child to the doctor, they may find that the child has a long history of constipation as well as diarrhea. The child also may be anemic (low on red blood cells and iron) and be slow to develop.

Normally, muscles in the large and small intestines push stool out of the body through the anus. Special nerve cells in the intestines, called ganglion cells, make the muscles push. A person with HD doesn’t have these nerves in the last part of the large intestine, and so the muscles push the stool until it reaches this part of the intestine without nerves. At this point, the stool stops moving, and new stool starts backing up behind it. Sometimes the ganglion cells that tell the muscles to push are missing from the whole large intestine and sometimes even the small intestine before that. When this happens, it’s called “long segment disease.” When HD includes only a part of the large intestine, it’s called “short segment disease.”

Tests ordered by the doctor to determine whether the child has HD may include a barium enema, anal manometry, biopsy and a barium X-ray. During the barium enema and X-ray, the doctor places barium in the baby’s anus before taking the picture – this makes the intestine show up better on the X-ray. In places where nerve cells are missing, the intestine looks very narrow. Other tests include manometry, in which a small balloon is inserted into the rectum. Normally, this causes the rectal muscles to relax. If it doesn’t, HD is suspected. Biopsy is the most accurate test. The doctor removes and looks at a small piece of the intestine under a microscope. If the nerve cells are missing, HD is diagnosed. The doctor may do one or all of these tests.

HD is treated with surgery called a “pull-through” operation. There are three common ways to do a pull-through: the Swenson, Soave and Duhamel procedures. Each is slightly different from the others, but they all involve taking a part of the intestine that doesn’t work and connecting the healthy part of what’s left to the anus. After pull-through surgery, the child has a healthy intestine.

Colostomy and Ileostomy

Often, the pull-through can be done right after the diagnosis. However, children who have been very sick may need surgery called an ostomy first. This surgery helps the child get healthy before having the pull-through. Some doctors do an ostomy in every child before doing the pull-through.

In an ostomy, the doctor takes out the diseased part of the intestine. Then the doctor creates a small hole in the baby's abdomen called a stoma. The doctor connects the top part of the intestine to the stoma. Stool leaves the body through the stoma while the bottom part of the intestine heals. Stool goes into a bag attached to the skin around the stoma. You will need to empty this bag several times a day.

If the doctor removes the entire large intestine and connects the small intestine to the stoma, the surgery is called an ileostomy. If the doctor leaves part of the large intestine and connects that to the stoma, the surgery is called a colostomy.

Later, the doctor will do the pull-through. The doctor disconnects the intestine from the stoma and attaches it just above the anus. The stoma isn't needed any more, so the doctor either sews it up during surgery or waits about six weeks to make sure that the pull-through worked.

Most babies are more comfortable after having an ostomy because they can pass gas more easily and aren't constipated anymore.

Older children are more comfortable, too, but still may have some trouble getting used to an ostomy. They will need to learn how to take care of the stoma and how to change the bag that collects stool. They may be worried about being different from their friends. Most children can lead a normal life after surgery.

Nurses at the hospital can teach you and your child how to care for a stoma and can talk to you about your concerns.

After a pull-through, nine out of 10 children pass stool normally. Some children may have diarrhea for a while, and babies may develop a severe diaper rash. Eventually, the stool will become more solid, and the child will need to go to the bathroom less often. Toilet training may be delayed, as the child learns how to use the bottom muscles only after pull-through surgery. Older children might stain their underwear for a while after the surgery, but it is not their fault. They can't control this problem, which improves with time.

Some children become constipated, because one in 10 children with HD still has difficulty moving stool through part of the colon without nerve cells. A mild laxative also may be helpful. Ask your doctor for suggestions.

Diet and nutrition

One of the large intestine’s jobs is to collect the water and salts the body needs. Since your child's intestine is shorter now, it absorbs less. Your child will need to drink more to make sure his or her body gets enough fluids.

An infant who has long-segment disease requiring an ileostomy may need special tube feedings. The shortened intestine does not allow the bloodstream enough time to absorb nutrients from food before it is pushed out of the body as stool. Tube feedings that deliver nutrients can make up for what is lost.

Eating high-fiber foods like cereal and bran muffins can help reduce constipation and diarrhea.

Infections can be very dangerous for a child with Hirschsprung's disease. Infection of the large and small intestines is called enterocolitis. It can happen before or after surgery to treat Hirschsprung's disease. Here are some signs to look for:

  • fever
  • swollen abdomen
  • vomiting
  • diarrhea
  • bleeding from the rectum
  • sluggishness

Call your doctor immediately if your child shows any of these signs. If the problem is enterocolitis, your child may be admitted to the hospital. In the hospital, an intravenous line may be needed to keep body fluids up and to deliver antibiotics to fight the infection. The large intestine will be rinsed regularly with a mild saltwater solution until all remaining stool has been removed. The rinse also may contain antibiotics to kill bacteria.

When the child has recovered from the infection, the doctor may advise surgery. If the child has not had pull-through surgery yet, the doctor may prepare for it by doing a colostomy or ileostomy before the child leaves the hospital. If the child already has had a pull-through operation, the doctor may correct the obstruction with surgery.

For an appointment with a Washington University pediatric surgeon, call (314) 454-6022, Monday-Friday, 8 a.m.-5 p.m.