Hirschsprung disease

Last reviewed: 27 Apr 2022
Last updated: 21 Dec 2021

Summary

Definition

History and exam

Key diagnostic factors

  • vomiting
  • explosive passage of liquid and foul stools
  • abdominal distension
  • delayed passage of meconium
  • fever
  • failure to thrive
More key diagnostic factors

Other diagnostic factors

  • septic shock
Other diagnostic factors

Risk factors

  • Down syndrome
  • multiple endocrine neoplasia type IIA
  • male sex
  • gene mutations (chromosome 10 and 21)
More risk factors

Diagnostic investigations

1st investigations to order

  • plain abdominal x-ray
  • contrast enema
More 1st investigations to order

Investigations to consider

  • rectal biopsy
  • anorectal manometry
More investigations to consider

Treatment algorithm

ACUTE

typical (rectosigmoid)/long-segment disease: without enterocolitis

typical (rectosigmoid)/long-segment disease: with enterocolitis

total colonic aganglionosis

short-segment disease

Contributors

Authors

Andrea Bischoff, MD

Pediatric Surgeon

Director of the International Center for Colorectal and Urogenital Care

Children's Hospital Colorado

Associate Professor of Surgery

University of Colorado

Aurora

CO

Disclosures

AB is a co-author of several references cited in this topic.

Alberto Peña, MD

Pediatric Surgeon

International Center for Colorectal and Urogenital Care

Children's Hospital Colorado

Professor of Surgery

University of Colorado

Aurora

CO

Disclosures

AP is a co-author of several references cited in this topic.

Acknowledgements

Dr Andrea Bischoff and Dr Alberto Peña would like to gratefully acknowledge Dr Marc A. Levitt, a previous contributor to this topic. MAL declares that he has no competing interests.

Peer reviewers

Ivo de Blaauw, MD, PHD

Pediatric Surgeon

Radboud University Nijmegen

Academic Medical Center

Nijmegen

Netherlands

Disclosures

IdB declares that he has no competing interests.

Jose Manuel Tovilla, MD

Colorectal Pediatric Surgeon

Chief of the Colorectal Clinic

Hospital Infantil de Mexico Federico Gomez

Mexico

Disclosures

JMT declares that he has no competing interests.

Daniel P. Doody, MD

Pediatric Surgeon

Department of Pediatric Surgery

Massachusetts General Hospital

Boston

MA

Disclosures

DPD declares that he has no competing interests.

  • Hirschsprung disease images
  • Differentials

    • Meconium-plug syndrome
    • Cystic fibrosis (meconium ileus)
    • Small left colon syndrome
    More Differentials
  • Guidelines

    • Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis
    More Guidelines
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