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.
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.
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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.
Hirschsprung is more common in boys. Other factors that may increase your child's chance of Hirschsprung include:
Symptoms often show soon after birth. Hirschsprung that is less serious may be noticed until later in life.
Symptoms found in newborns include:
Symptoms found in young children include:
Symptoms found in teenagers include:
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
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:
International Foundation for Functional Gastrointestinal Disorders
National Institute of Diabetes and Digestive and Kidney Diseases
About Kids Health—The Hospital for Sick Children
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_disease/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.
Last reviewed June 2016 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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