What is Hirschsprung's disease?
Hirschsprung's disease (HD) is a disease of the large intestine
(colon). It usually occurs in children and results in a blockage of the
intestine so that stool cannot pass through. 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 five times more often in boys than it does in
girls. HD occurs in 1 out of every 5,000 births. It is sometimes
associated with inherited diseases such as Down’s syndrome.
How does HD cause constipation?
Normally, muscles in the large intestine push stool to the anus,
where stool leaves the body. The intestine’s ability to push 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 can also 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 part of the intestine 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 HD?
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 HD?
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 gradual onset)
- Watery diarrhea (in newborns)
- Poor weight gain
- Slow growth (in children under 5 years)
- Malabsorption
- Fever/infection
- Loss of appetite
How is HD 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 obstructed. The abdomen
might also be swollen. There are many tests a doctor might used to
determine whether a child has HD. These include:
- Abdominal X-ray — looking for a bowel blockage
- Rectal exam — During this exam, the doctor will check the
rectum for a lack of stool, as well as whether the anal canal feels
narrowed.
- Barium enema X-ray — Barium is a liquid that makes the
intestine show up better 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 test is mostly used in older children.
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 intestine and then looks at it
under a microscope. If the nerve cells are missing, HD can be
confirmed.
How is HD treated?
Most children will need surgery to correct the condition.
Pull-through surgery
This 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 surgery called an ostomy. During an ostomy, the doctor takes
out the diseased part of the intestine. The doctor then creates a small
hole in the child's abdomen, called a stoma, and 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 attached to the skin around the stoma and needs to be
emptied several times a day. 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
just above 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 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 for HD?
Most babies are more comfortable after having an ostomy performed
because they can pass gas more easily 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 the
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 improve with time.
When should I call my child’s doctor?
Infections can be very dangerous for a child with Hirschsprung's
disease, and it is important that parents remain watchful for signs.
Infection of the large and small intestines, called enterocolitis, can
happen before or after pull-through or ostomy surgery. If left
untreated, this infection can become life-threatening. The most common
symptoms of infection include:
- Fever
- Swollen abdomen
- Vomiting
- Diarrhea
- Bleeding from the rectum
- Excessive fatigue/exhaustion
Another complication of surgery is a puncture that
develops in the wall (intestinal perforation) of the intestine.
Intestinal perforation has many of the same symptoms as enterocolitis;
however, it also causes severe abdominal pain (intensified 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 you child has abdominal pain or develops
never symptoms after treatment for HD.
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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: 4/27/2009...#9844
