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Hirschsprung disease

Last reviewed: 14 Jan 2025
Last updated: 21 Jan 2025

Summary

Definition

History and exam

Key diagnostic factors

  • vomiting
  • explosive passage of stool/gas
  • abdominal distension
  • delayed passage of meconium
  • faltering growth
  • chronic constipation
Full details

Other diagnostic factors

  • fever
  • diarrhea
  • bloody stool
  • abdominal tenderness
  • septic shock
  • cecal or appendiceal perforation
  • meconium plug syndrome
Full details

Risk factors

  • Down syndrome
  • male sex
  • family history
  • Shan-Waardenburg syndrome
  • Mowat-Wilson syndrome
  • Haddad syndrome
  • multiple endocrine neoplasia type 2 (MEN2)
Full details

Diagnostic tests

1st tests to order

  • plain abdominal x-ray
  • contrast enema
Full details

Tests to consider

  • rectal biopsy
  • anorectal manometry
Full details

Treatment algorithm

ACUTE

short-segment/long-segment disease: without enterocolitis

short-segment/long-segment disease: with enterocolitis

total colonic aganglionosis

Contributors

Authors

Lily S. Cheng, MD

Assistant Professor

University of Virginia

Charlottesville

VA

Disclosures

LSC is the co-author of a reference cited in this topic.

Kristy Lynn Rialon, MD

Associate Professor of Surgery

Division of Pediatric Surgery

Texas Children’s Hospital

Baylor College of Medicine

Houston

TX

Disclosures

KLR declares that she has no competing interests.

Acknowledgements

Dr Lily S. Cheng and Dr Kristy Lynn Rialon would like to gratefully acknowledge Dr Andrea Bischoff and Dr Alberto Peña, the previous contributors to this topic. AB and AP are co-authors of several references cited in this topic.

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

    • Management and outcomes for long-segment Hirschsprung disease: a systematic review from the APSA outcomes and evidence based practice committee
    • Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis
    More Guidelines
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