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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

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 waste products to move through the affected area.
Hirschsprung's Disease
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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

Hirschsprung's is more common in boys. Other factors that may increase your child's chance of Hirschsprung's include:

Symptoms

Symptoms can differ by age.
Symptoms found in newborns include:
Symptoms found in young children include:
Symptoms found in teenagers include:

Diagnosis

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.
Imaging tests assess the colon and other nearby structures. These 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 anorectal manometry.

Treatment

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.

Prevention

There are no guidelines to prevent 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 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. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated January 24, 2013. Accessed June 27, 2013.

Hirschsprung's disease. American Academy of Family Physicians Family Doctor website. Available at: http://familydoctor.org/familydoctor/en/diseases-conditions/hirschsprungs-disease.html. Updated July 2010. Accessed June 27, 2013.

Hirschsprung’s disease treatment. UCSF Benioff Children's Hospital website. Available at: https://www.ucsfbenioffchildrens.org/conditions/hirschsprungs%5Fdisease/treatment.html. Accessed June 27, 2013.

What I need to know about Hirschsprung's 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 May 10, 2012. Accessed June 27, 2013.

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