Hirschsprung's disease (congenital aganglionic megacolon) is a birth defect in which
nerve cells in the wall of the large intestine do not develop. These nerve
cells, called ganglion cells, control the muscles in that area that normally
push food and digestive waste through the large intestine. In Hirschsprung's
disease, the muscles in the wall of the large intestine do not relax, which
prevents waste from moving through the large intestine. This may lead to
trapped stool, infection, inflammation, and constipation.
Hirschsprung's disease is diagnosed soon after birth in about 1 of every
5,000 newborns. It is more common in males than females.1
What causes Hirschsprung's disease?
The cause of
Hirschsprung's disease is not known, but the disease tends to run in families
(inherited). The incidence of the disease in relatives of those who have it is
higher than in the general population.1
General symptoms of
Hirschsprung's disease include a swollen abdomen and constipation. The newborn
with Hirschsprung's disease may not pass the first stool (meconium) until at least 48 hours after birth. Other
symptoms vary depending on the child's age, when the symptoms are recognized,
the amount of intestine affected, and the presence of complications. These
symptoms may include vomiting, having a poor appetite and refusing to eat, and
not growing or gaining weight as expected.
How is Hirschsprung's disease diagnosed?
A doctor
usually first suspects Hirschsprung's disease based on descriptions of your
child's symptoms and the results of a physical exam. A rectal
biopsy, abdominal
X-ray,
barium enema, and other tests may be done to confirm
diagnosis.
Though Hirschsprung's disease is present from birth
(congenital), it may not be diagnosed until months or years later. But most
children born with this disease are diagnosed within the first year of life.
In rare cases, an undiagnosed or untreated case can become
life-threatening.
How is it treated?
Children with Hirschsprung's
disease need surgery to remove the portion of the large intestine that has no
nerve cells. The surgery may be done soon after the diagnosis is made, often
within the first days or month of life. After the surgery, the child may have
recurrent constipation or leakage of stool from the
rectum. Sometimes these complications require further
treatment.
Many children will not have intestinal problems that
last forever. But most have long-term (chronic) problems with stomachaches,
constipation, or stool leakage (fecal incontinence). If long-term problems
occur, they are usually mild. Depending on the nature of the problem, treatment
may include medicine, behavior modification, biofeedback, cognitive behavioral
therapy, or more surgery.
Emergency surgery may be needed if a
dangerous problem occurs, such as Hirschsprung's-associated enterocolitis
(HAEC), an inflammation of the small and large intestines.
Symptoms of
Hirschsprung's disease vary depending on the child's
age, when the symptoms are recognized, the amount of
intestine affected, and whether complications are
present.
In a newborn (birth to age 1
month), the major signs and symptoms include:
A delay in passing the first stool (meconium) after birth. Healthy newborns usually pass
stool within the first 24 hours after birth. A delay is common in
Hirschsprung's disease.
Constipation. The newborn does not have
regular bowel movements.
Vomiting.
Refusing to
eat.
A swollen abdomen, which may cause the baby to breathe fast
and grunt when breathing.
In an infant (age 1 month to 1
year), the major signs and symptoms include:
Slower-than-expected weight
gain.
Constipation.
A swollen
abdomen.
Episodes of diarrhea and vomiting.
In a child (age 1 year or older),
the major signs and symptoms include:
Constipation, with the passage of ribbon-like,
foul-smelling stool or with large amounts of hard stool becoming stuck in and
blocking the
large intestine (impaction).
A swollen abdomen.
Poor
appetite and poor growth.
A serious condition called Hirschsprung's-associated
enterocolitis (HAEC) may occur in some children who have Hirschsprung's
disease. The small and large intestines may become
inflamed. And a hole (perforation) may form in the
large intestine, causing stool to leak inside the abdomen. HAEC requires
emergency surgery.
Other conditions with similar symptoms
include a tumor or
cyst on or in the intestines or a blockage that occurs
when meconium becomes stuck in the baby's bowel (meconium plug
syndrome).
Exams and Tests
Hirschsprung's disease usually is suspected based on symptoms and a physical exam.
During the physical exam, your doctor will check your child's abdomen for
bloating and excessive stool in the
intestines and
rectum.
If Hirschsprung's disease is
suspected, the following tests may be done:
Rectal biopsy. This is the most useful test for
diagnosing Hirschsprung's disease. For this test, a small piece of rectal
tissue is removed and examined under a microscope for the presence of nerve
cells. If nerve cells are not present, Hirschsprung's disease is diagnosed.
Barium enema. In this test, a whitish liquid (barium)
is inserted through the rectum into the intestines. The barium coats the
intestine to make it visible on an X-ray. If Hirschsprung's disease is present,
the X-ray will show a swollen portion of the intestine followed by a narrowed
area. But a barium enema may not reveal signs of Hirschsprung's disease if a
child is younger than 3 months of age or if only a small part of the intestine
is affected. A barium enema is not done if the doctor suspects that the large
intestine has swollen to many times its normal size (toxic
megacolon).
X-ray of the abdomen. This test
provides a picture of structures and organs in the abdomen, including the
intestines.
Anorectal manometry. In this test, a small tube is
inserted into the rectum to measure how well the muscles in the anus are
working. If the muscles do not relax, it may indicate Hirschsprung's disease.
In newborns (younger than 1 month) and babies born early, this test may not be
accurate.2 Also, a
false-positive test result may occur if the large
intestine is stretched for another reason, or if the child cannot or does not
cooperate with the testing.
A delay in diagnosing Hirschsprung's disease can lead to a
child developing serious, life-threatening complications.
Treatment Overview
Children with
Hirschsprung's disease require surgery to remove the
area of the large intestine that has no nerve cells. Sometimes a baby will need
enemas to remove stool from the intestine until
surgery can be performed. You may be instructed how to give the enemas.
In most cases, surgery is done within the first months after birth.
During surgery, the affected portion of the intestine is removed. Two surgeries
may be needed to remove the affected area of the large intestine:
In the first surgery, the intestine is brought
to the surface of the abdomen (colostomy) above the diseased area. The
affected part of the large intestine is removed. Stool passes out of the body
through the colostomy into a disposable
pouch. This allows the remaining normal intestine time
to recover.
After a few weeks or months, the colostomy is closed in
a second surgery, and healthy intestine is reattached. Stool will again pass
from the body through the anus.
Most babies are in the hospital 2 to 3 days to 1 week for
surgery for Hirschsprung's disease.
Some healthy babies need just
one surgery. This avoids the need for a colostomy and second operation. In many
situations, surgery can be done using a lighted instrument called a
laparoscope.
Complications from surgery
include a leak where the intestine is rejoined (anastomotic leaks) and scar
tissue formation (strictures).
After surgery
After corrective surgery for Hirschsprung's
disease, no further intestinal blockages are expected. But long-term outcomes
after surgery are variable. Children treated for Hirschsprung's disease may
leak stool (fecal incontinence) for years after successful surgery. Recurrent
or chronic abdominal pain or constipation may also occur. Some of these
problems may persist into adulthood.
Some children may get a
serious condition called Hirschsprung's-associated enterocolitis (HAEC). The
small and large intestines may become
inflamed. And a hole (perforation) may form in the
large intestine, causing stool to leak inside the abdomen. HAEC requires
emergency surgery.
The cause of symptoms that won't go away is
often unclear. A colonic manometry measures muscle and nerve function in the
large intestine and can often help doctors determine the specific problem so it
can be treated appropriately. During this test, a flexible, plastic tube
(catheter) is put into your child's rectum and into the large intestine, where
sensors detect movement after fluid is flushed through that area. This test is
only available at a limited number of facilities. If bothersome symptoms are a
continual problem, ask your doctor for a referral or for more
information.
Depending on the type of problem with the large
intestine or anal sphincter, treatment may include medicine, behavior
modification, biofeedback, cognitive behavioral therapy, or more surgery.
Home Treatment
Home treatment is not appropriate if
you believe your child has symptoms of
Hirschsprung's disease. See your doctor. But if your
child has had surgery for this condition, you can take measures at home to help
you manage your child's recovery and any long-term effects of the
condition.
If your child has a
colostomy after surgery, a health professional will
teach you how to care for it. The health professional may meet with you while
your child is at the hospital and then follow up with later visits in your
home. For more information, see:
After surgery, also watch for signs of complications, such
as fever, pain, or redness and warmth around the incision. Severe abdominal
pain, vomiting, or bleeding from the rectum should be immediately reported to
your doctor.
Children successfully treated for Hirschsprung's
disease may leak stool (fecal incontinence) for years after the surgery.
Chronic problems with diarrhea, constipation, and abdominal aches can also
occur. The causes for these problems vary. A colon manometry is a procedure
that can help doctors diagnose and treat the problem. But it is only done in a
few specialized centers.3 If your child continually
struggles with bothersome symptoms, talk to your doctor about the possibility
of getting a colon manometry.
Other Places To Get Help
Organizations
International Foundation for Functional Gastrointestinal
Disorders
P.O. Box 170864
Milwaukee, WI 53217-8076
Phone:
1-888-964-2001 (414) 964-1799
Fax:
(414) 964-7176
E-mail:
iffgd@iffgd.org
Web Address:
www.iffgd.org
The International Foundation for Functional
Gastrointestinal Disorders (IFFGD) is a nonprofit organization that provides
information and support to adults and children affected by hard-to-diagnose
gastrointestinal (GI) disorders. The Web site has information about GI symptoms
and conditions such as irritable bowel syndrome, indigestion, gastroesophageal
reflux disease (GERD), incontinence, gas, bloating, belching, heartburn,
nausea, and belly pain.
March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
Phone:
(914) 997-4488
Web Address:
www.marchofdimes.com
The March of Dimes tries to improve the health of babies by
preventing birth defects, premature birth, and early death. March of Dimes
supports research, community services, education, and advocacy to save babies'
lives. The organization's Web site has information on premature birth, birth
defects, birth defects testing, pregnancy, and prenatal care. You can sign up
to get a free newsletter and also explore Understanding Your Newborn: An
Interactive Program for New Parents.
National Digestive Diseases Information Clearinghouse
(NDDIC)
2 Information Way
Bethesda, MD 20892-3570
Phone:
1-800-891-5389
Fax:
(703) 738-4929
E-mail:
nddic@info.niddk.nih.gov
Web Address:
www.digestive.niddk.nih.gov
This clearinghouse is a service of the U.S. National
Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the
U.S. National Institutes of Health. The clearinghouse answers questions;
develops, reviews, and sends out publications; and coordinates information
resources about digestive diseases. Publications produced by the clearinghouse
are reviewed carefully for scientific accuracy, content, and readability.
North American Society for Pediatric Gastroenterology,
Hepatology, and Nutrition (NASPGHAN)
P.O. Box 6
Flourtown, PA 19031
Phone:
(215) 233-0808
Fax:
(215) 233-3918
E-mail:
naspghan@naspghan.org
Web Address:
www.naspghan.org
NASPGHAN promotes advances in clinical care, research,
and education for infants, children, and teens with digestive disorders. The
family resources page of this Web site has information about pain in the belly,
diarrhea, constipation, vomiting, poor weight gain, nutritional problems, and
diseases of the liver, bowel, and pancreas.
Vanderhoof JA, Young RJ (2006). Hirschsprung disease. In FD Burg
et al., eds., Current Pediatric Therapy, 18th ed.,
pp. 529-532. Philadelphia: Saunders Elsevier.
Milla PJ (2006). Hirschsprung's disease. In MM Wolfe et al., eds., Therapy of Digestive Disorders, 2nd ed., pp. 845-853. Philadelphia: Saunders Elsevier.
Pensabene L (2003). Colonic manometry in children with
defecatory disorders: Role in diagnosis and management. American Journal of Gastroenterology, 95(5):
1052-1057.
Other Works Consulted
Constipation Guideline Committee (2006). Evaluation
and treatment of constipation in infants and children: Recommendations of the
North American Society for Pediatric Gastroenterology, Hepatology and
Nutrition. Journal of Pediatric Gastroenterology and Nutrition, 43(3), pp. e1-e13. Also available online:
http://www.naspghan.org/wmspage.cfm?parm1=295.
Kahn E, Daum F (2006). Enteric nervous system section of Anatomy, histology, embryology, and developmental anomalies of the small and large intestine. In
M Feldman et al., eds., Sleisenger and Fordtran's Gastrointestinal and Liver Disease, 8th ed., vol. 2, pp. 2061-2091. Philadelphia: Saunders Elsevier.
Milla PJ (2003). Hirschsprung's disease and other
neuropathies section of Gastroenterology and nutrition. In CD Rudolph, AM
Rudolph, eds., Rudolph's Pediatrics, 21st ed., chap.
17.23.3, pp. 1461-1464. New York: McGraw-Hill.
Parkman HP (2006). Megacolon section of
Gastrointestinal motility and functional disorders. In DC Dale, DD Federman,
eds., ACP Medicine, section 4, chap. 14. New York:
WebMD.
Swenson O (2002). Hirschsprung's disease: A review. Pediatrics, 109(5): 914-918.
Wyllie R (2007). Motility disorders and Hirschsprung
disease. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 18th ed., pp. 1564-1568. Philadelphia: Saunders Elsevier.
This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.
Vanderhoof JA, Young RJ (2006). Hirschsprung disease. In FD Burg
et al., eds., Current Pediatric Therapy, 18th ed.,
pp. 529-532. Philadelphia: Saunders Elsevier.
Milla PJ (2006). Hirschsprung's disease. In MM Wolfe et al., eds., Therapy of Digestive Disorders, 2nd ed., pp. 845-853. Philadelphia: Saunders Elsevier.
Pensabene L (2003). Colonic manometry in children with
defecatory disorders: Role in diagnosis and management. American Journal of Gastroenterology, 95(5):
1052-1057.
