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.
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.
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 examination.
Other tests may be done to confirm the diagnosis, such as:
If there is a delay in diagnosing Hirschsprung’s disease, the child could end up with serious, life-threatening complications.
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, behaviour modification, biofeedback, cognitive-behavioural 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:
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In a newborn (birth to age 1 month), the major signs and symptoms include:
In an infant (age 1 month to 1 year), the major signs and symptoms include:
In a child (age 1 year or older), the major signs and symptoms include:
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.
Hirschsprung's disease usually is suspected based on symptoms and a physical examination. During the physical examination, 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:
A delay in diagnosing Hirschsprung's disease can lead to a child developing serious, life-threatening complications.
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:
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 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.
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 centres.3 If your child continually struggles with bothersome symptoms, talk to your doctor about the possibility of getting a colon manometry.
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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.
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- 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.
- 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.
|Primary Medical Reviewer||John Pope, MD - Pediatrics|
|Primary Medical Reviewer||Brian D. O'Brien, MD - Internal Medicine|
|Specialist Medical Reviewer||Brad W. Warner, MD - Pediatric Surgery|
|Last Revised||October 28, 2010|
Last Revised: April 28, 2012
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