(Congenital Megacolon; Colonic Aganglionosis)
by Michelle Badash, MS
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.
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.
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:
Symptoms can differ by age.
Symptoms found in newborns include:
Symptoms found in young children include:
Symptoms found in teenagers include:
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.
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:
Surgery of the bowel can cause serious complications. Talk to your doctor about treatment benefits and risks.
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.
International Foundation for Functional Gastrointestinal Disorders
National Digestive Diseases Information Clearinghouse
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