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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.
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. It occurs in about 1 out of every 5,000 newborns and is most common in male babies.footnote 1
In rare cases, the disease can be life-threatening.
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.
Symptoms can depend on how severe the problem is and how old the child is. They may include:
Hirschsprung's disease can lead to serious and even life-threatening problems if it is not found early. Be sure to take your baby for regular checkups, and talk to your doctor if you have concerns.
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:
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. Treatment may involve one or two surgeries:
Most babies are in the hospital from a couple of days up to 1 week. Being involved in your baby's care while he or she is in the hospital may help you feel more comfortable when you take your baby home. Talk with the doctor about how to feed and care for your baby at home, and make sure you know what problems to watch for. It's normal to feel nervous, but don't be afraid to hold and handle your baby.
Some children have long-term (chronic) problems with stomachaches and bowel problems after surgery. But most of the time, these problems aren't severe. Depending on the problem, there are a number of treatment options. These include medicine, 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.
Vanderhoof JA, Young RJ (2006). Hirschsprung disease. In FD Burg et al., eds., Current Pediatric Therapy, 18th ed., pp. 529–532. Philadelphia: Saunders Elsevier.
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.
Fiorino KN, et al. (2011). Motility disorders and Hirschsprung disease. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 19th ed., pp. 1283–1287. Philadelphia: Saunders.
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.
Sood MR, Calkins CM (2011). Motor disorders of the stomach, small bowel, and colon. In CD Rudolph et al., eds., Rudolph's Pediatrics, 22nd ed., pp. 1433–1437. New York: McGraw-Hill.
Current as of: May 27, 2020
Author: Healthwise StaffMedical Review: John Pope, MD, MPH - PediatricsKathleen Romito, MD - Family MedicineBrad W. Warner, MD - Pediatric Surgery, Critical Care Medicine
Current as of: May 27, 2020
John Pope, MD, MPH - Pediatrics & Kathleen Romito, MD - Family Medicine & Brad W. Warner, MD - Pediatric Surgery, Critical Care Medicine
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