by Michelle Badash, MS
En Espaol (Spanish Version) Hirschsprung's disease is a rare congenital disorderaffecting about 1 in 5,000 US newbornsthat 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.
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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:
Family members with the diseaseMore common in malesMay be associated with other congenital defects Symptoms Hirschsprung's disease is usually diagnosed in infancy, but can also be diagnosed later. Symptoms can differ with age. In newborns:Failure to pass meconium within the first 48 hours of life (Meconium is a dark sticky substance that is the first bowel movement.)Vomiting after eatingAbdominal distentionIn young children: Severe constipationDiarrheaAnemiaGrowth delayIn teenagers:Severe constipation for most of their livesAnemia DiagnosisMost 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: Barium enema injection of fluid into the rectum that makes the colon show up on an x-ray so the doctor can see abnormal areas in the colon Biopsy removal of a sample of bowel tissue to check for ganglia (or the absence of ganglia) Anorectal manometrymeasurement of the pressures of the internal and external sphincter with a rectal balloon TreatmentThe 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: ColostomyThis involves surgically creating an opening into the colon, which is brought to the abdominal surface. Stool contents are excreted through this opening and into a bag.Pull-through operationThe affected area of the colon is removed, then the healthy colon is brought down to the rectum and joined to the rectal wall.Closure of the colostomyThe colostomy opening is closed, and bowel function gradually returns to normal. OutcomeSymptoms are eliminated in 90% of children after surgical treatment. A better outcome is associated with early treatment, and shorter bowel segment involvement. Complications Complications may include: Perforation of the intestineEnterocolitisShort gut syndrome PreventionThere are no guidelines for the prevention of Hirschsprung's disease. RESOURCES: International Foundation for Functional Gastrointestinal Disordershttp://www.aboutkidsgi.org The National Digestive Diseases Information Clearinghouse (NDDIC)http://digestive.niddk.nih.gov/index.htm CANADIAN RESOURCES: Canada Health Portalhttp://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.
Harrisons 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 2007 by Kari Kassir, MDPlease 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.
