Hirschsprung's disease is a rare congenital disorder—affecting about 1 in 5,000 US newborns—that results in an obstruction of the bowel. This prevents normal bowel movements. It usually occurs as an isolated finding but can also be part of a syndrome.
Hirschsprung's disease is caused by the absence of certain nerve cells, called ganglia, in the wall of the bowel. Normally, these nerve cells help relax the bowel wall to allow fecal matter to move through the colon. However, in children with Hirschsprung's disease, the colon stays contracted, and bowel contents build up before the obstruction. The condition usually affects the last 1-2 feet of the colon that ends with the rectum.
The absence of ganglia is due to a genetic defect. In some cases, HD is hereditary, which means parents could pass it to their children. This can happen even if the parents don't have HD. If you have one child with HD, you could have more children with the disease. Talk to your doctor about the risk and consider genetic counseling.
A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Hirschsprung's disease include:
Hirschsprung's disease is usually diagnosed in infancy, but can also be diagnosed later. Symptoms can differ with age.
Most cases of Hirschsprung's disease are diagnosed in infancy, although some may not be diagnosed until adolescence or early adulthood.
Tests for diagnosis may include:
The primary treatment for Hirschsprung's disease is surgery to remove the affected portion of the colon. There are three potential phases to the surgery, but all three phases may not be needed. Your doctor will discuss the best methods for you or your child's condition.
The three phases are:
If your child is diagnosed with Hirschsprung's disease, follow your doctor's instructions .
Symptoms are eliminated in 90% of children after surgical treatment. A better outcome is associated with early treatment, and shorter bowel segment involvement.
Complications may include:
RESOURCES:
International Foundation for Functional Gastrointestinal Disorders
http://www.aboutkidsgi.org
The National Digestive Diseases Information Clearinghouse (NDDIC)
http://digestive.niddk.nih.gov/index.htm
CANADIAN RESOURCES:
Canada Health Portal
http://chp-pcs.gc.ca/CHP/index_e.jsp
Canadian Institute for Health Information (CIHI)
http://www.cihi.ca/cihiweb/dispPage.jsp?cw_page=home_e
References:
Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics . 17th ed. Philadelphia,PA: WB Saunders Company; 2004.
Harrison’s Principles of Internal Medicine . 14th ed. McGraw-Hill; 1998.
Hirschsprung's disease. Med Help International website. Available at: http://www.medhelp.org/HealthTopics/Hirschsprung's_Disease.html .
Medline Plus website. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm .
National Institute of Diabetes & Digestive & Kidney Diseases website. Available at: http://www.niddk.nih.gov/health/digest/pubs/hirsch/hirsch.htm .
Last reviewed November 2008 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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