Hirschsprung’s Disease

(Congenital Megacolon; Colonic Aganglionosis)

Definition

Hirschsprung's disease is a rare disorder of the colon. It is present at birth. This disease causes problems with the movement within the colon. It usually affects the last 1-2 feet of the colon. Hirschsprung's can make it difficult to have effective bowel movements.

Causes    TOP

The colon is a muscular tube. It pushes waste to the rectum by squeezing then relaxing. Nerves tell the colon when to squeeze and when to relax.

In Hirschsprung's disease, the nerve cells that tell parts of the colon to relax are missing. This means that parts of the colon never relax and fully open. This can make it difficult for the waste to move through the affected area.

Hirschsprung's Disease

Nucleus factsheet image
Copyright © Nucleus Medical Media, Inc.

The missing nerve cells are due to a genetic defect. In some cases, Hirschsprung is hereditary. This means parents could pass it to their children. Genes from the parents can be passed even if the parents do not have the disease.

Risk Factors    TOP

Factors that may increase your child's chance of Hirschsprung's include:

  • Family members with the disease
  • Sex: male
  • Presence of Down Syndrome
  • Presence of other congenital defects

Symptoms    TOP

Symptoms can differ by age.

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    TOP

Hirschsprung's disease is often diagnosed in infancy. Some may not be diagnosed until adolescence or early adulthood.

Your doctor will ask about your child's symptoms and medical history. A physical exam will be done.

Images may be taken of your bodily structures. This can be done with:

Your bowel tissue may be tested. This can be done with biopsy.

The pressure inside your colon may be measured. This can be done with anoretal manometry.

Treatment    TOP

Surgery is the primary treatment for Hirschsprung's. The earlier the treatment is done, the better the outcome may be. Recovery may also be easier if a shorter bowel segment is involved.

The goal of surgery is to remove the affected portion of the colon. Other surgery may be done to provide support to the bowel while it heals. Potential surgical procedures may include:

  • Pull-through operation—The affected area of the colon is removed. The remaining healthy colon is then brought down and joined to the rectum.
  • Colostomy—This may be done to allow your bowel time to rest and heal. After the affected area of colon is removed, the healthy colon is not immediately connected to the rectum. Instead, the colon is attached to an opening in the abdominal wall. Waste will then pass through this opening and into a bag outside the body. This may be done in children who are very sick or have a large portion of the colon affected.
  • Closure of the colostomy—After the area has healed, the colon will be connected to the rectum. The colostomy opening will be closed. Bowel function will gradually return to normal.

Surgery of the bowel can cause serious complications. Talk to your doctor about treatment benefits and risks.

Prevention    TOP

There are no guidelines for the prevention of Hirschsprung's.

If you have one child with the disease, you could have more children with the disease. Talk to your doctor about the risk. Consider going to genetic counseling.

RESOURCES:

International Foundation for Functional Gastrointestinal Disorders
http://www.aboutkidsgi.org
National Digestive Diseases Information Clearinghouse
http://digestive.niddk.nih.gov

CANADIAN RESOURCES:

References:

Hirschsprung disease. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us . Updated January 24, 2013. Accessed June 27, 2013.
Hirschsprung's disease. American Academy of Family Physicians Family Doctor website. Available at: http://familydocto... . Updated July 2010. Accessed June 27, 2013.
Hirschsprung's disease. National Digestive Diseases Information Clearinghouse website. Available at: http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/ . Updated May 10, 2012. Accessed June 27, 2013.
Hirschsprung’s disease treatment. University of California San Francisco Benioff Children's Hospital website. Available at: http://www.ucsfhealth.org/childrens/edu/hirschsprung.pdf . Accessed June 27, 2013.
Last reviewed June 2013 by Michael Woods, MD
Last Updated: 5/11/2013