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Causes
By Mayo Clinic staff
Normally, as a baby grows in the womb, bundles of nerve cells (ganglia) begin to form between the muscle layers along the length of the colon. This process begins at the top of the colon and ends at the bottom (rectum). In children with Hirschsprung's disease, this process does not finish and the ganglia do not form along the entire length of the colon. Sometimes the cells are missing from only a few centimeters of the colon. Other times a longer portion may be affected.
Why this happens is unknown. It may be associated with mutations in several genes. It may also be associated with multiple endocrine neoplasia, type IIB — a syndrome that causes noncancerous tumors in the mucous membranes and adrenal glands (located above the kidneys) and cancer of the thyroid gland (located at the base of the neck).
Hirschsprung's is not caused by anything that the mother does during pregnancy. In some cases, the disease may be inherited, even if neither parent has the disease. Hirschsprung's is also 10 times more likely to occur in children with Down syndrome.
- What I need to know about Hirschsprung's disease. National Digestive Diseases Information Clearinghouse. http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/. Accessed Sept. 12, 2008.
- Hirschsprung's disease. American Academy of Pediatrics. http://familydoctor.org/online/famdocen/home/children/parents/special/birth/906.htm. Accessed Sept. 12, 2008.
- Wesson, DE. Congenital ananglionic megacolon (Hirschsprung disease). http://www.uptodate.com/home/index.html. Accessed Sept. 12, 2008.
- Hirschsprung's disease. American Pediatric Surgical Association. http://www.eapsa.org/parents/resources/hirschsprungs.cfm. Accessed Sept. 12, 2008.
- Hirschsprung's disease. Family Practice Notebook. http://www.fpnotebook.com/GI/Neuro/HrschsprngsDs.htm. Accessed Sept. 12, 2008.
- Endom E. Emergency complications of Hirschsprung disease. http://www.uptodate.com/home/index.html. Accessed Sept. 12, 2008.
- Picco M [expert opinion]. Mayo Clinic, Rochester, Minn. Sept. 17, 2008.
