Why does Hirschsprung's disease
Normally, muscles in the intestine push stool to the anus, where
stool leaves the body. Special nerve cells in the intestine,
called ganglion cells, make the muscles push. A person with
Hirschsprung's disease does not have these nerve cells in the
last part of the large intestine.
Healthy large intestine: Nerve cells
are found throughout the intestine.
Hirschsprung's disease large
intestine: Nerve cells are missing from the last part of the
In a person with Hirschsprung's disease, the healthy muscles of
the intestine push the stool until it reaches the part without
the nerve cells. At this point, the stool stops moving. New
stool then begins to stack up behind it.
Sometimes the ganglion cells are missing from the whole large
intestine and even parts of the small intestine before it. When
the diseased section reaches to 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
What causes Hirschsprung's disease?
Hirschsprung's disease develops before a child is born.
Normally, nerve cells grow in the baby's intestine soon after
the baby begins to grow in the womb. These nerve cells grow down
from the top of the intestine all the way to the anus. With
Hirschsprung's disease, the nerve cells stop growing before they
reach the end.
No one knows why the nerve cells stop growing. But we do know
that it's not the mother's fault. Hirschsprung's disease isn't
caused by anything the mother did while she was pregnant.
Some children with Hirschsprung's disease have other health
problems, such as Down's syndrome and other rare disorders.
If I have more children, will they have Hirschsprung's
In some cases, Hirschsprung's disease is hereditary, which means
mothers and fathers could pass it to their children. This can
happen even if the parents don't have Hirschsprung's disease. If
you have one child with Hirschsprung's disease, you could have
more children with the disease. Talk to your doctor about the
What are the symptoms?
Symptoms of Hirschsprung's disease usually show up in very
young children. But sometimes they don't appear until the person
is a teenager or an adult. The symptoms are a little different
for different ages.
Symptoms in Newborns
Newborns with Hirschsprung's disease don't have their first
bowel movement when they should. These babies may also throw up
a green liquid called bile after eating and their abdomens may
swell. Discomfort from gas or constipation might make them
fussy. Sometimes, babies with Hirschsprung's disease develop
infections in their intestines.
Symptoms in Young Children with Hirschsprung's Disease
Most children with Hirschsprung's disease have always had severe
problems with constipation. Some also have more diarrhea than
usual. Children with Hirschsprung's disease might also have
anemia, a shortage of red blood cells, because blood is lost in
the stool. Also, many babies with Hirschsprung's disease grow
and develop more slowly than they should.
Symptoms in Teenagers and Adults with Hirschspring's Disease
Like younger children, teenagers and adults with Hirschsprung's
disease usually have had severe constipation all their lives.
They might also have anemia.
Those with anemia look pale and tire easily.
How does the doctor find out if Hirschsprung's disease is the
To find out if a person has Hirschsprung's disease, the
doctor will do one or more tests:
Barium Enema X Ray
- barium enema (BAR-ee-um EN-uh-muh) x ray
- manometry (ma-NOM-eh-tree)
- biopsy (BY-op-see)
An x ray is a black-and-white picture of the inside of the body.
The picture is taken with a special machine that uses a small
amount of radiation. For a barium enema x ray, the doctor puts
barium through the anus into the intestine before taking the
picture. Barium is a liquid that makes the intestine show up
better on the x ray.
In some cases, instead of barium another liquid, called
Gastrografin, may be used. Gastrografin is also sometimes used
in newborns to help remove a hard first stool. Gastrografin
causes water to be pulled into the intestine, and the extra
water softens the stool.
In places where the nerve cells are missing, the intestine looks
too narrow. If a narrow large intestine shows on the x ray, the
doctor knows Hirschsprung's disease might be the problem. More
tests will help the doctor know for sure.
Other tests to diagnose Hirschsprung's disease are manometry and
The doctor inflates a small balloon inside the rectum. Normally,
the anal muscle will relax. If it doesn't, Hirschsprung's
disease may be the problem. This test is most often done in
older children and adults.
This is the most accurate test for Hirschsprung's disease. The
doctor removes and looks at a tiny piece of the intestine under
a microscope. If the nerve cells are missing, Hirschsprung's
disease is the problem.
The doctor may do one or all of these tests. It depends on the
What is the treatment?
Hirschsprung's disease is treated with surgery. The surgery is
called a pull-through operation. There are three common ways to
do a pull-through, and they are called the Swenson, the Soave,
and the Duhamel procedures. Each is done a little differently,
but all involve taking out the part of the intestine that
doesn't work and connecting the healthy part that's left to the
anus. After pull-through surgery, the child has a working
Before surgery: The diseased section
is the part of the intestine that doesn't work.
Step 1: The doctor removes the
Step 2: The healthy section is attached to the
rectum or anus.
Colostomy and Ileostomy
Often, the pull-through can be done right after the diagnosis.
However, children who have been very sick may first need surgery
called an ostomy. 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 cuts a small hole in the baby's
abdomen. The hole is 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.
Step 1: The doctor takes out most of
the diseased part of the intestine.
Step 2: The doctor attaches the
healthy part of the intestine to the stoma (a hole in the
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 6 weeks to make
sure that the pull-through worked.
What will my child's life be like after surgery?
Most babies are more comfortable after having an ostomy because
they can pass gas more easily and aren't constipated anymore.
Older children will be more comfortable, too, but they 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
Nurses at the hospital can teach you and your child how to care
for a stoma and can talk to you about your worries.
Adjusting After Pull-through
After a pull-through, 9 out of 10 children pass stool normally.
Some children may have diarrhea for a while, and babies may
develop a nasty 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. It is not their fault. They can't control this problem,
but it improves with time.
Some children become constipated because 1 in 10 children with
Hirschsprung's disease has difficulty moving stool through the
part of the colon without nerve cells. A mild laxative may also
be helpful. Ask your doctor for suggestions.
Diet and Nutrition for those with Hirschsprung's disease
One job of the large intestine 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 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.
Drinking plenty of liquids is important after surgery for
Infections can be very dangerous for a child with Hirschsprung's
disease. Infection of the large and small intestines is called
enterocolitis (EN-tuh-ro-ko-LY-tis). It can happen before or
after surgery to treat Hirschsprung's disease. Here are some of
the signs to look for:
- swollen abdomen
- bleeding from the rectum
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 (I.V.)
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 salt water solution until all
remaining stool has been removed. The rinse may also contain
antibiotics to kill bacteria.delayed first bowel movement in newbornsswollen abdomen and vomitingconstipation since birth
slow growth and developmentanemia
When the child has recovered from the infection, the doctor may
advise surgery. If the child has not had the 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
has already had a pull-through operation, the doctor may correct
the obstruction with surgery.
Enterocolitis can be life threatening, so watch for the signs
and call your doctor immediately if they occur.
Long-segment Hirschsprung's disease
Sometimes Hirschsprung's disease affects most or all of the
large intestine, plus some of the small intestine. Children with
long-segment Hirschsprung's disease can be treated with
pull-through surgery, but there is a risk of complications such
as infection, diarrhea, and diaper rash afterward. Parents need
to pay close attention to their child's health. Also, since
some, most, or all of the intestine is removed, drinking a lot
of fluid is important.
Points to Remember
Hirschsprung's disease is a disease of the large intestine.
Hirschsprung's disease develops in children before they are
born. It is not caused by anything the mother did while
Symptoms of Hirschsprung's disease include:
Children with Hirschsprung's disease may get an infection,
called enterocolitis, which can cause fever and diarrhea.
Hirschsprung's disease is a serious disease that needs to be
treated right away. Hirschsprung's disease is treated with
pull-through surgery or, sometimes, ostomy.
After treatment, most children with Hirschsprung's disease lead
Abdomen (AB-duh-men): The area between the chest and the
hips in the front of the body.
Anemia (ah-NEE-mee-ah): Not enough red blood cells in the blood.
Anus (AY-nus): The opening at the end of the large intestine.
Stool leaves the body through this opening.
Colostomy (koh-LAW-stuh-mee): Surgery to connect the colon to a
hole in the abdomen.
Diarrhea (DY-uh-REE-ah): Loose, watery stool.
Ganglion (GANG-li-on) cells: A type of nerve cell involved in
moving stool through the large intestine. A person with
Hirschsprung's disease is missing these cells from part of the
Ileostomy (il-ee-AW-stuh-mee): Surgery to connect the bottom of
the small intestine (ileum) to a hole in the abdomen.
Large intestine (in-TESS-tin): A long tube that makes stool and
carries it out of the body.
Nerve cells: Nerves are long fibers that carry messages from the
body to the brain, and back again, like telephone lines. The
messages often tell a body part what to do. Nerve cells are part
of nerves. In the intestine, the nerve cells tell muscles how to
push the stool along.
Ostomy (OSS-tuh-mee): Surgery to connect part of the intestine
to a hole in the abdomen.
Rectum (REK-tum): The last section of the large intestine.
Stoma (STO-mah): A hole on the outside of the body, made by
surgery. Stool leaves the body through the hole, instead of
through the anus.
Stool: Solid waste from the body. The material that gets passed
in a bowel movement.
For More Information
International Foundation for Functional Gastrointestinal
Disorders, Inc. (IFFGD)
P.O. Box 170864
Milwaukee, WI 53217-8076
Phone: 1-888-964-2001 or (414) 964-1799
Fax: (414) 964-7176
2312 Savoy Street
Hoover, AL 35226
Phone: (205) 978-2930