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Hirschsprung Disease

Hirschsprung Disease is a topic covered in the 5-Minute Emergency Consult.

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Basics

Description

  • Described in 1886 by Harold Hirschsprung as a cause of constipation in early infancy
  • Congenital aganglionosis megacolon
  • 1:5,000 live births
  • Overall mortality of Hirschsprung enterocolitis is 35–50%

Etiology

  • Absence of enteric ganglia in the distal bowel
  • Normally, ganglia are derived from neural crest and migrate along the intestine, arriving at the proximal colon by 8 wk of gestation and in the rectum by 12 wk of gestation.
  • Failure of neural crest cells to migrate into parasympathetic Meissner (submucosal) and Auerbach (myeneteric) ganglions results in an aganglionic segment and clinical disease
  • Affected bowel classically presents at the internal anal sphincter and involves the rectosigmoid colon (75% of cases)
  • May extend the entire length of the GI tract (often fatal)
  • Aganglionic segment chronically contracts, forming an obstruction to the passage of stool, and proximal bowel distends to hold the stool that has not passed
  • Stimulation of the anus allows passage of stool
  • Genetic and other causes
    • Mutations of the ret proto-oncogene found in both familial and spontaneous forms
    • Male-to-female ratio 4:1
      • 8% with positive family history; 5–12% of siblings are affected
      • Associated chromosomal abnormality in 5–15%, most commonly trisomy 21 (Down syndrome)
      • Other congenital anomalies in 18%—GI, cardiac, craniofacial, cleft palate, congenital deafness

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Citation

Rosen, Peter, et al., editors. "Hirschsprung Disease." 5-Minute Emergency Consult, 5th ed., Lippincott Williams & Wilkins, 2016. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease.
Hirschsprung Disease. In: Rosen P, Shayne P, Barkin AZ, et al, eds. 5-Minute Emergency Consult. 5th ed. Lippincott Williams & Wilkins; 2016. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease. Accessed April 24, 2019.
Hirschsprung Disease. (2016). In Rosen, P., Shayne, P., Barkin, A. Z., Wolfe, R. E., Hayden, S. R., Barkin, R. M., & Schaider, J. J. (Eds.), 5-Minute Emergency Consult. Available from https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease
Hirschsprung Disease [Internet]. In: Rosen P, Shayne P, Barkin AZ, Wolfe RE, Hayden SR, Barkin RM, Schaider JJ, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2016. [cited 2019 April 24]. Available from: https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Hirschsprung Disease ID - 307225 ED - Rosen,Peter, ED - Shayne,Philip, ED - Barkin,Adam Z, ED - Wolfe,Richard E, ED - Hayden,Stephen R, ED - Barkin,Roger M, ED - Schaider,Jeffrey J, BT - 5-Minute Emergency Consult UR - https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease PB - Lippincott Williams & Wilkins ET - 5 DB - Emergency Central DP - Unbound Medicine ER -