Home > Diagnoses & Conditions > Hirschsprung Disease
Hirschsprung Disease
Overview
Hirschsprung’s disease (HD), also known as congenital aganglionic megacolon, is characterized by a lack of innervation of the bowel beginning at the rectum. The amount of bowel involved can vary but is usually limited to the rectum or sigmoid colon. [Hirschsprung's Disease] The disease is most likely caused by the failure of neural crest cell migration. The affected segment fails to relax and causes obstruction. Most patients typically present with constipation or obstruction; 90% of newborn infants and less than 10% of infants with HD will pass meconium within 24 hours of birth. [Constipation: 2006]Approximately 1 in 5000 live births has HD. [Bodian: 1963], [Swenson: 2002] The etiology of HD is multifactorial. Although it can be familial, most cases are spontaneous. [Kessmann: 2006] Early diagnosis may help prevent enterocolitis, a serious and not uncommon complication. [Constipation: 2006] Suction rectal biopsy confirms the diagnosis in most cases. [Amiel: 2001] Abdominal films, barium enemas, rectal manometry, and full thickness rectal biopsies can also assist in diagnosis.
Definitive treatment entails the removal of the affected segment and is now most commonly accomplished as a single-stage pull-through operation. [Hirschsprung's Disease] With surgery, the prospects for normal bowel function improve and, by adulthood, most lead normal lives although some will continue to experience some constipation or other defecatory problems. [Kessmann: 2006], [Swenson: 2002]
Resources
Information & Support
For Professionals
Hirschsprung's Disease
An overview of the disease including management issues and complications that commonly follow surgical repair from the International
Foundation for Functional Gastrointestinal Disorders, August 2007.
Hirschsprung Disease and Constipation (Video)
From YouTube, an interview with a physician who is addressing the issue of constipation. The first few minutes are devoted
to constipation in general and only at the end does the physician address some of the specifics of Hirschsprung’s including
presentation and biopsy diagnosis.
Histopathology Colon: Hirschsprung Disease (Video)
YouTube video describing a tissue slide of the disease.
For Parents and Patients
What I Need to Know About Hirschsprung's Disease
Information about the disease including symptoms and treatment, with pictures, from the National Digestive Diseases Information
Clearinghouse (NDDIC).
Surgery for Children with Hirschsprung's Disease: A Guide for Patients & Parents
(
70 KB)
An overview of HD with information about postoperative care from the University of California at San Francisco Medical Center.
Hirschsprungs & Motility Disorders Support Network (HMDSN)
This privately-run web site provides information and support for families including stories, a support forum, links to related
support groups, newsletters and more.
Pull-thru Network
This organization is for families of individuals born with an anorectal malformation, colon disease, or related diagnosis;
provides information and support for families and teen including information about camps, articles, newsletters, links to
other organizations, and more.
Practice Guidelines
Biggs WS, Dery WH.
Evaluation and treatment of constipation in infants and children.
Am Fam Physician.
2006;73(3):469-77.
PubMed abstract / Full Text
Guidelines intended for the non-specialist evaluating constipation. Provides succinct recommendation tables and relatively
uncomplicated flow diagrams.
Constipation Guideline Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition.
Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric
Gastroenterology, Hepatology and Nutrition.
J Pediatr Gastroenterol Nutr.
2006;43(3):e1-13.
PubMed abstract / Full Text
Services
Pediatric Gastroenterology
See all Pediatric Gastroenterology services providers (2) in our database.
For other services related to this condition, browse our Services categories or search our database.
Helpful Articles
Loening-Baucke V, Kimura K.
Failure to pass meconium: diagnosing neonatal intestinal obstruction.
Am Fam Physician.
1999;60(7):2043-50.
PubMed abstract / Full Text
Addresses the differential diagnosis when evaluating young patients with constipation.
Ghosh A, Griffiths DM.
Rectal biopsy in the investigation of constipation.
Arch Dis Child.
1998;79(3):266-8.
PubMed abstract / Full Text
Addresses how to avoid an unnecessary work up and biopsies for constipation.
Page Bibliography
Amiel J, Lyonnet S.
Hirschsprung disease, associated syndromes, and genetics: a review.
J Med Genet.
2001;38(11):729-39.
PubMed abstract / Full Text
Bodian M, Carter C.
A family study of Hirschsprung disease.
Ann Hum Genet.
1963;26:261.
Constipation Guideline Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition.
Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric
Gastroenterology, Hepatology and Nutrition.
J Pediatr Gastroenterol Nutr.
2006;43(3):e1-13.
PubMed abstract / Full Text
Kessmann J.
Hirschsprung's disease: diagnosis and management.
Am Fam Physician.
2006;74(8):1319-22.
PubMed abstract / Full Text
Review of Hirschsprung’s disease for the non-specialist.
Swenson O.
Hirschsprung's disease: a review.
Pediatrics.
2002;109(5):914-8.
PubMed abstract / Full Text