Pediatric Hirschsprung Disease 

  • Author: Holly L Neville, MD; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: May 8, 2012
 

Background

In 1886, Harold Hirschsprung first described Hirschsprung disease as a cause of constipation in early infancy. Early recognition and surgical correction of Hirschsprung disease protects affected infants from enterocolitis and debilitating constipation.

Intraoperative finding in total colonic aganglionoIntraoperative finding in total colonic aganglionosis. Note the decompressed bowel adjacent to the distended colon.
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Pathophysiology

Hirschsprung disease results from the absence of enteric neurons within the myenteric and submucosal plexus of the rectum and/or colon. Enteric neurons are derived from the neural crest and migrate caudally with the vagal nerve fibers along the intestine. These ganglion cells arrive in the proximal colon by 8 weeks' gestation and in the rectum by 12 weeks' gestation. Arrest in migration leads to an aganglionic segment. This results in clinical Hirschsprung disease.

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Epidemiology

Frequency

United States

Hirschsprung disease occurs in approximately 1 per 5000 live births.

International

Prevalence may vary by region and has been shown to be as high as 1 per 3000 live births in the Federated States of Micronesia.[1]

Mortality/Morbidity

The overall mortality of Hirschsprung enterocolitis is 25-30%, which accounts for almost all of the mortality from Hirschsprung disease.

Sex

Hirschsprung disease is approximately 4 times more common in males than females.

Age

Nearly all children with Hirschsprung disease are diagnosed during the first 2 years of life. Approximately one half of children affected with this disease are diagnosed before they are aged 1 year. A small number of children with Hirschsprung disease are not recognized until much later in childhood or adulthood.

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Contributor Information and Disclosures
Author

Holly L Neville, MD  Assistant Professor of Clinical Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine

Holly L Neville, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, and Association of Women Surgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H  Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, Bushnaq Medical Centre, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H is a member of the following medical societies: Royal College of Paediatrics and Child Health, Royal College of Physicians, Royal College of Surgeons in Ireland, Royal College of Surgeons of Edinburgh, and Royal Society of Tropical Medicine and Hygiene

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

Chief Editor

Carmen Cuffari, MD  Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Charles Cox Jr, MD, to the development and writing of this article.

References

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Abdominal radiograph demonstrating small bowel obstruction and megacolon in infant with Hirschsprung Disease.
Barium enema demonstrating transition zone. The transition zone shows the transition from dilated, normally innervated bowel to normal caliber, noninnervated bowel.
Intraoperative finding in total colonic aganglionosis. Note the decompressed bowel adjacent to the distended colon.
 
 
 
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