• Hirschsprung’s Disease

    (Congenital Megacolon; Colonic Aganglionosis)

    Definition

    Hirschsprung's disease is an area of the colon (large intestine) that has stopped working properly. The colon is not able to push stool through as it should, which can lead to a partial or full blockage. This can lead to serious infections and damage to the colon.

    Causes

    Hirschsprung is present at birth.
    The colon is a tube made of muscles that squeeze then relax to help move waste out of the body. The work of the colon is controlled by a number of nerves. In Hirschsprung disease, the nerves that tell the colon to relax are missing in one area. This means that part of the colon can never relax and fully open. Waste movement can get slowed or stopped in the area. It often occurs in the lower part of the colon but can sometimes include the whole colon.
    Hirschsprung Disease
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    The missing nerves do not develop as the fetus grows. It is not clear why this happens. Some families may have a strong history of hirschsprung disease. In this case, it is probably due to a problem with the genes that have instructions for how the body develops.

    Risk Factors

    Hirschsprung is more common in boys. Other factors that may increase your child's chance of Hirschsprung include:
    • Family members with the disease
    • Presence of Down Syndrome
    • Presence of other birth defects

    Symptoms

    Symptoms often show soon after birth. Hirschsprung that is less serious may be noticed until later in life.
    Symptoms found in newborns include:
    • Failure to have a bowel movement within the first 48 hours of life
    • Vomiting after eating
    • Swelling of abdomen
    Symptoms found in young children include:
    Symptoms found in teenagers include:
    • Severe constipation for most of their lives
    • Anemia

    Diagnosis

    Hirschsprung disease is often diagnosed when an infant fails to have a bowel movement within 48 hours of birth. In older children, the doctor will ask about your child's symptoms and medical history. A physical exam will be done.
    To help confirm the diagnosis, the doctor may order
    • An x-ray will special dye to show the narrowed area of the colon to
    • Biopsy of bowel tissue to look for missing nerve tissue.
    • Anorectal manometry—test that challenge muscles in the rectum, more common test for older children.

    Treatment

    Hirschsprung needs to be treated with surgery. The earlier the treatment is done, the better the outcome may be.
    The goal of surgery is to remove the part of the colon that does not work properly. Surgical options include:
    • Pull-through operation—The inner layer of the affected colon area is removed. The healthy colon above the area is then pulled down through the affected area. It can then be joined to the rectum so that stool can pass through.
    • Colostomy or ileostomy—If the bowel is infected, damaged, or if a large area is being removed an ostomy may be needed. A healthy part of the small intestine or colon will be cut just above the damaged area. The healthy intestine will be connected to an opening in the abdomen. Waste can pass through this opening to a bag. An ostomy gives the remaining colon time to rest and heal. A later surgery will be needed to reconnect the intestines.

    Prevention

    There are no guidelines to prevent Hirschsprung.
    If you have one child with the disease, you could have more children with the disease. Consider going to genetic counseling to better understand the risk.

    RESOURCES

    International Foundation for Functional Gastrointestinal Disorders http://www.aboutkidsgi.org

    National Institute of Diabetes and Digestive and Kidney Diseases http://www.niddk.nih.gov

    CANADIAN RESOURCES

    About Kids Health—The Hospital for Sick Children http://www.aboutkidshealth.ca

    Health Canada http://www.hc-sc.gc.ca

    References

    Hirschsprung disease. American Academy of Family Physicians Family Doctor website. Available at: http://familydoctor.org/familydoctor/en/diseases-conditions/hirschsprungs-disease.html. Updated March 2014. Accessed June 6, 2016.

    Hirschsprung disease. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T116544/Hirschsprung-disease. Updated July 24, 2015. Accessed June 6, 2016.

    Hirschsprung’s disease treatment. UCSF Benioff Children's Hospital website. Available at: https://www.ucsfbenioffchildrens.org/conditions/hirschsprungs%5Fdisease/treatment.html. Accessed June 6, 2016.

    What I need to know about Hirschsprung disease. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at: http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx. Updated July 2013. Accessed June 6, 2016.

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