Hirschsprung disease

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

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Última revisão: 20 Aug 2025

Última atualização: 21 Jan 2025

Hirschsprung 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 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).

Definição

A congenital condition characterized 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 diarrhea.[3] Severe HAEC can result in life-threatening sepsis and should be treated expeditiously as it is the leading cause of death in Hirschsprung disease.

História e exame físico

Principais fatores diagnósticos

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

Detalhes completos

Outros fatores diagnósticos

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

Detalhes completos

Fatores de risco

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

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

plain abdominal x-ray
contrast enema

Detalhes completos

Investigações a serem consideradas

rectal biopsy
anorectal manometry

Detalhes completos

Algoritmo de tratamento

AGUDA

short-segment/long-segment disease: without enterocolitis

short-segment/long-segment disease: with enterocolitis

total colonic aganglionosis

Colaboradores

Autores

Lily S. Cheng, MD

Assistant Professor

University of Virginia

Charlottesville

Declarações

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

Declarações

KLR declares that she has no competing interests.

Agradecimentos

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.

Revisores

Ivo de Blaauw, MD, PHD

Pediatric Surgeon

Radboud University Nijmegen

Academic Medical Center

Nijmegen

Netherlands

Declarações

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

Declarações

JMT declares that he has no competing interests.

Daniel P. Doody, MD

Pediatric Surgeon

Department of Pediatric Surgery

Massachusetts General Hospital

Boston

გაფრთხილება:

DPD declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

წყაროები

ჩვენი მტკიცებულებებისა და სარედაქციო ჯგუფები თანამშრომლობენ საერთაშორისო ექსპერტებსა და რეცენზენტებთან, რათა უზრუნველვყოთ თქვენი წვდომა კლინიკურად ყველაზე მნიშვნელოვან ინფორმაციაზე.

ძირითადი სტატიები

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

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.სრული ტექსტი აბსტრაქტი

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.სრული ტექსტი აბსტრაქტი

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.სრული ტექსტი აბსტრაქტი

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.სრული ტექსტი აბსტრაქტი

გამოყენებული სტატიები

ამ თემაში მოხსენიებული წყაროების სრული სია ხელმისაწვდომია მომხმარებლებისთვის, რომლებსაც აქვთ წვდომა BMJ Best Practice-ის ყველა ნაწილზე.

დიფერენციული დიაგნოზები
- Meconium-plug syndrome
- Cystic fibrosis (meconium ileus)
- Small left colon syndrome
მეტი დიფერენციული დიაგნოზები
გაიდლაინები
- 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
მეტი გაიდლაინები
შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

ამ მასალის გამოყენება ექვემდებარება ჩვენს განცხადებას

Hirschsprung disease

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Algoritmo de tratamento

short-segment/long-segment disease: without enterocolitis

short-segment/long-segment disease: with enterocolitis

total colonic aganglionosis

Colaboradores

Autores

Lily S. Cheng, MD

Declarações

Kristy Lynn Rialon, MD

Declarações

Agradecimentos

Revisores

Ivo de Blaauw, MD, PHD

Declarações

Jose Manuel Tovilla, MD

Declarações

Daniel P. Doody, MD

გაფრთხილება:

Peer reviewer acknowledgements

Disclosures

წყაროები

ძირითადი სტატიები

გამოყენებული სტატიები

დიფერენციული დიაგნოზები

გაიდლაინები

შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

შედით სისტემაში BMJ Best Practice-ის მასალებზე სრული წვდომისთვის