Hirschsprung disease

Last updated: March 23, 2022

Summarytoggle arrow icon

Hirschsprung disease (congenital aganglionic megacolon) is an inherited disorder primarily affecting newborns. The condition is characterized by an aganglionic colon segment, usually the rectosigmoid region, which fails to relax leading to functional intestinal obstruction. The first sign of the disease is often when a newborn fails to pass meconium within 48 hours after birth and/or shows symptoms of gastrointestinal obstruction (e.g., bilious vomiting and abdominal distention). The onset and severity of symptoms vary according to the length of the aganglionic segment (a longer aganglionic segment is associated with an early and more severe onset). Diagnosis usually involves three different modalities: contrast enema, anorectal manometry, and stepwise biopsy for histological detection of aganglionosis. Treatment of choice is surgical resection of the aganglionic segment, although it is important to maintain anal sphincter function. A severe complication of the disease is Hirschsprung enterocolitis, which presents with abdominal pain, fever, and foul-smelling and/or bloody diarrhea. If not treated promptly, this condition can progress to toxic megacolon or sepsis. The prognosis for patients with Hirschsprung disease is good if treated at an early age.

Epidemiologytoggle arrow icon

Epidemiological data refers to the US, unless otherwise specified.

Etiologytoggle arrow icon

Hirschsprung disease always involves the REcTum and is often associated with RET mutations.

Pathophysiologytoggle arrow icon

Clinical featurestoggle arrow icon

Early presentation

Late presentation [4]

Subtypes and variantstoggle arrow icon

Ultrashort-segment Hirschsprung disease [5]

  • Definition: very short segment of aganglionosis, limited to the distal rectum
  • Symptoms: less severe symptoms (e.g., chronic constipation)
  • Treatment: usually treated with diet and stool softeners
  • Prognosis: better prognosis with fewer complications

Total colonic aganglionosis [5]

  • Definition: complete aganglionosis of the colon
  • Symptoms: ranging from incomplete intestinal obstruction to ileus
  • Prognosis: significant long-term morbidity and mortality (e.g., enterocolitis, post-operative bowel incontinence)

Diagnosticstoggle arrow icon

Imaging [1]

Abdominal x-ray

Barium enema

  • Indication: usually performed in addition to x-ray, to localize and determine the length of the aganglionic segment prior to surgery
  • Findings
    • Change in caliber along the affected intestinal segment (transition zone)
    • Retention of barium for 24–48 hours

Anorectal manometry [5]

  • Goal: It measures the relaxation pressure of the internal anal sphincter after distention with a balloon. Difficult to perform in newborns as cooperation is essential
  • Indication: : screening in atypical presentations or in older children
  • Finding
    • Absent relaxation reflex of the internal sphincter after stretching of the rectum
    • Presence of high baseline resting pressures

Rectal biopsy [1]

In approximately 10% of newborns with Hirschsprung disease, no dilation or change in caliber is found in the colon contrast enema examination. Imaging and rectal biopsy are necessary to confirm the diagnosis.

Treatmenttoggle arrow icon

Surgical correction [6]

  • Objective: definitive treatment to remove the affected segment of the colon and bring the normal ganglionic intestinal ends together
  • Procedures
    • Total transanal endorectal pull-through: preferred method that can be done in one stage [6]
    • Abdominoperineal pull-through (Soave procedure): traditionally performed in two stages:

Medical therapy [5]

Differential diagnosestoggle arrow icon

Differential diagnosis of intestinal obstruction in neonates
Hirschsprung disease Intestinal neuronal dysplasia (IND) [7] Meconium ileus Meconium plug syndrome Congenital hypothyroidism
Clinical features
  • Rectal biopsy: hyperganglionosis as opposed to aganglionosis in Hirschsprung disease
  • Diagnosis of exclusion (e.g., cystic fibrosis or Hirschsprung disease ruled out)

If bilious vomiting

The differential diagnoses listed here are not exhaustive.

Complicationstoggle arrow icon

We list the most important complications. The selection is not exhaustive.

Prognosistoggle arrow icon

  • Good prognosis with early treatment [9]
  • Higher mortality associated with younger age, length of aganglionosis, and preoperative enterocolitis [9]

Referencestoggle arrow icon

  1. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2007; 45 (1): p.1-14.doi: 10.1136/jmg.2007.053959 . | Open in Read by QxMD
  2. McKeown SJ, Stamp L, Hao MM, Young HM. Hirschsprung disease: a developmental disorder of the enteric nervous system. Wiley Interdisciplinary Reviews: Developmental Biology. 2012; 2 (1): p.113-129.doi: 10.1002/wdev.57 . | Open in Read by QxMD
  3. Parisi MA, Kapur RP. Genetics of Hirschsprung disease. Curr Opin Pediatr. 2000; 12 (6): p.610-617.doi: 10.1097/00008480-200012000-00017 . | Open in Read by QxMD
  4. Biggs WS, Dery WH. Evaluation and treatment of constipation in infants and children.. Am Fam Physician. 2006; 73 (3): p.469-77.
  5. Haricharan RN, Georgeson KE. Hirschsprung disease. Semin Pediatr Surg. 2008; 17 (4): p.266-275.doi: 10.1053/j.sempedsurg.2008.07.005 . | Open in Read by QxMD
  6. Kobayashi H, Hirakawa H, Puri P. What are the diagnostic criteria for intestinal neuronal dysplasia? . Pediatr Surg Int. 1995; 10 (7): p.459–464.doi: 10.1007/BF00176387 . | Open in Read by QxMD
  7. D. Thomson, B. Allin, A.-M. Long, T. Bradnock, G. Walker, M. Knight. Laparoscopic assistance for primary transanal pull-through in Hirschsprung's disease: a systematic review and meta-analysis. BMJ Open. 2015; 5 (3): p.e006063-e006063.doi: 10.1136/bmjopen-2014-006063 . | Open in Read by QxMD
  8. Gunadi, Ningtyas HH, Simanjaya S, Febrianti M, Ryantono F, Makhmudi A. Comparison of pre-operative Hirschsprung-associated enterocolitis using classical criteria and Delphi method: A diagnostic study. Annals of Medicine and Surgery. 2020; 51: p.37-40.doi: 10.1016/j.amsu.2020.01.007 . | Open in Read by QxMD
  9. Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni V. Hirschsprung’s disease: what about mortality?. Pediatr Surg Int. 2011; 27 (5): p.473-478.doi: 10.1007/s00383-010-2848-2 . | Open in Read by QxMD

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