Hirschsprung's disease

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 21 Apr 2025

Last updated: 21 Jan 2025

Hirschsprung's disease is most commonly diagnosed in the first year of life.

Presents with vomiting, delayed passage of meconium, abdominal distension, and/or enterocolitis.

May be associated with other congenital anomalies (e.g., Down syndrome, multiple endocrine neoplasia type IIA).

Definitive diagnosis is with a rectal biopsy.

Initial treatment is bowel irrigation, followed by a definitive surgical treatment, either transanally alone or with laparoscopic assistance. Rarely, colostomy or ileostomy is required, with definitive pull-through delayed.

Irrigations often do not work for patients with total colonic Hirschsprung's disease. Total colectomy with ileo-procto anastomosis and a protective ileostomy is recommended at the time of diagnosis, with definitive surgery when stoma output is of a thicker consistency (typically when the child is around one year old and has fully transitioned to solid foods).

Definition

A congenital condition characterised by partial or complete colonic functional obstruction associated with the absence of ganglion cells.[1][2] Because of the aganglionosis, the lumen is tonically contracted, causing a functional obstruction. The aganglionic portion of the colon is always located distally, but the length of the segment varies. This determines the varied manifestations of the disease. The vast majority of patients present in the newborn period up to 1 year of age. Diagnosis later in life occurs rarely.

Hirschsprung-associated enterocolitis (HAEC) may present with abdominal distention, tenderness, fever, lethargy, and diarrhoea.[3] Severe HAEC can result in life-threatening sepsis and should be treated expeditiously as it is the leading cause of death in Hirschsprung's disease.

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
diarrhoea
bloody stool
abdominal tenderness
septic shock
caecal 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 investigations

1st investigations to order

plain abdominal x-ray
contrast enema

Full details

Investigations 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

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

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

Disclosures

DPD declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Montalva L, Cheng LS, Kapur R, et al. Hirschsprung disease. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. Abstract

Kawaguchi AL, Guner YS, Sømme S, et al. Management and outcomes for long-segment Hirschsprung disease: a systematic review from the APSA outcomes and evidence based practice committee. J Pediatr Surg. 2021 Sep;56(9):1513-23.Full text Abstract

Gosain A, Frykman PK, Cowles RA, et al. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int. 2017 May;33(5):517-21.Full text Abstract

Kyrklund K, Sloots CEJ, de Blaauw I, et al. ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. Orphanet J Rare Dis. 2020 Jun 25;15(1):164.Full text Abstract

Granström AL, Irvine W, Hoel AT, et al. Ernica clinical consensus statements on total colonic and intestinal aganglionosis. J Pediatr Surg. 2024 Oct;59(10):161565.Full text Abstract

Reference articles

A full list of sources referenced in this topic is available here.

Use of this content is subject to our disclaimer

Hirschsprung's disease

Summary

Definition

History and exam

Diagnostic investigations

Treatment algorithm

Contributors

Authors

Lily S. Cheng, MD

Disclosures

Kristy Lynn Rialon, MD

Disclosures

Acknowledgements

Peer reviewers

Ivo de Blaauw, MD, PHD

Disclosures

Jose Manuel Tovilla, MD

Disclosures

Daniel P. Doody, MD

Disclosures

References

Key articles

Reference articles

A full list of sources referenced in this topic is available here.