Hirschsprung's Disease

Topic Overview

What is Hirschsprung's disease?

Hirschsprung's disease is a birth defect that affects the nerve cells in the large intestine. These nerve cells control the muscles that normally push food and waste through the large intestine.

But in babies who have Hirschsprung's disease, the muscles in the wall of the large intestine don't relax, which prevents stool from passing. This can lead to trapped stool, infection, pain and swelling, and bowel problems.

Most of the time, the disease is found soon after birth in about 1 out of every 5,000 newborns. It is most common in male babies.¹

In rare cases, the disease can be life-threatening.

What causes Hirschsprung's disease?

Doctors don't know what causes the disease, but it tends to run in families. It may also be linked to other medical problems, such as Down syndrome and congenital heart disease.

What are the symptoms?

Symptoms include a swollen belly and problems passing stool. Newborns with the disease may not pass their first stool until at least 48 hours after birth.

Other symptoms depend on a child’s age, but can include vomiting, having a poor appetite, refusing to eat, and not growing or gaining weight.

How is Hirschsprung's disease diagnosed?

Most children are diagnosed with Hirschsprung’s disease during their first year. A doctor may think that a child has the disease based on the child's symptoms and the results of a physical exam.

Other tests may be done to confirm the diagnosis, such as:

• A tissue sample from the rectum (biopsy).
• An abdominal X-ray.
• An X-ray of the large intestine (barium enema).

If there is a delay in diagnosing Hirschsprung’s disease, the child could end up with serious, life-threatening complications.

How is it treated?

Children with Hirschsprung’s disease need surgery to remove the diseased part of the large intestine. Surgery is often done within the first days or month of life, soon after the disease is found. Children with Hirschsprung’s disease need one or two surgeries.

Long-term (chronic) problems with stomachaches and bowel problems are common after surgery. But most of the time, these problems are not severe. Depending on the problem, there are a number of treatment options. These include medicine, behavior modification, biofeedback, cognitive-behavioral therapy, and more surgery.

In a few cases, emergency surgery may be needed if a dangerous problem such as serious swelling of the small and large intestines (enterocolitis) occurs.

Frequently Asked Questions

Learning about Hirschsprung's disease:	What is Hirschsprung's disease? What are the symptoms?
Being diagnosed:	How is it diagnosed?
Getting treatment:	How is it treated?
Living with Hirschsprung's disease:	What can I do at home to help my child recover from surgery? What kind of care is needed for an ostomy?

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	Bowel Disease: Caring for Your Ostomy

Symptoms

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. Emergency surgery may be needed.

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 who have 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. Emergency surgery may be needed.

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:

Bowel Disease: Caring for Your Ostomy.

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
Email:	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
Email:	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
Email:	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.

Related Information

• Abdominal Pain, Age 11 and Younger
• Constipation, Age 11 and Younger

References

Citations

1. Vanderhoof JA, Young RJ (2006). Hirschsprung disease. In FD Burg et al., eds., Current Pediatric Therapy, 18th ed., pp. 529–532. Philadelphia: Saunders Elsevier.

2. Milla PJ (2006). Hirschsprung's disease. In MM Wolfe et al., eds., Therapy of Digestive Disorders, 2nd ed., pp. 845–853. Philadelphia: Saunders Elsevier.

3. 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.

• Gomez J, Parkman HP (2009). Megacolon section of Gastrointestinal motility and functional disorders. In EG Nabel, ed., ACP Medicine, section 4, chap. 14. Hamilton, ON: BC Decker.

• Kahn E, Daum F (2010). 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, 9th ed., vol. 2, pp. 1636–1641. Philadelphia: Saunders.

• 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.

• 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.

Credits

By	Healthwise Staff
Primary Medical Reviewer	John Pope, MD - Pediatrics
Specialist Medical Reviewer	Brad W. Warner, MD - Pediatric Surgery
Last Revised	September 9, 2010

By:	Healthwise Staff	Last Revised: September 9, 2010
Medical Review:	John Pope, MD - Pediatrics Brad W. Warner, MD - Pediatric Surgery
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