Hirschsprung Disease

(Congenital Megacolon; Colonic Aganglionosis)

Definition

Hirschsprung disease (HD) is an area of the colon (large intestine) that has stopped working the right way. It isn’t able to push stool through as it should, which can lead to a partial or full blockage. This can lead to serious infections and harm to the colon.

Causes    TOP

HD is present at birth.

The colon is a tube made of muscles. They squeeze then relax to help move waste out of the body. The work of the colon is controlled by a number of nerves. In HD, 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 happens 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 HD. In this case, it is probably due to a problem with genes.

Risk Factors    TOP

HD is more common in boys. Other things that may raise your child's chance of HD are:

  • Family members with the disease
  • Presence of Down Syndrome
  • Presence of other birth defects

Symptoms    TOP

Symptoms often show soon after birth. HD that is less serious may not be noticed until later in life.

Symptoms found in newborns include:

  • Failure to have a bowel movement within the first 24 hours of life
  • Vomiting after eating
  • Swelling of the belly

Symptoms found in older infants and children are:

Diagnosis    TOP

HD is often diagnosed when an infant fails to have a bowel movement within 24 hours of birth. In older children, the doctor will ask about your child's symptoms and health history. A physical exam will be done.

Your child may have:

  • An x-ray using special dye to view the colon
  • Biopsy of bowel tissue

Treatment    TOP

HD needs to be treated with surgery. The earlier it is done, the better the results may be.

The goal of surgery is to remove the part of the colon that does not work the right way. Here are the surgery types:

  • Pull-through—The inner layer of the affected colon area is removed. The healthy colon above the area is 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    TOP

HD can’t be prevented.

If you have one child with the disease, you could have more children with the disease. Genetic counseling can help you learn more about 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

References:

Hirschsprung disease. Family Doctor—American Academy of Family Physicians website. Available at: https://familydoctor.org/condition/hirschsprungs-disease/. Updated March 1, 2014. Accessed June 26, 2018.
Hirschsprung disease. EBSCO DynaMed Plus website. Available at: http://www.dynamed.... Updated July 24, 2015. Accessed June 26, 2018.
Hirschsprung’s disease treatment. UCSF Benioff Children's Hospital website. Available at: https://www.ucsfbenioffchildrens.org/conditions/hirschsprungs_disease/treatment.html. Accessed June 26, 2018.
What I need to know about Hirschsprung disease. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at:
...(Click grey area to select URL)
Updated September 2015. Accessed June 26, 2018.
Last reviewed June 2018 by Karri Kassir, MD
Last Updated: 6/26/2018

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