Hirschsprung Disease
Basics
Description
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
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 (myenteric) 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
Schaider, Jeffrey J., et al., editors. "Hirschsprung Disease." 5-Minute Emergency Consult, 6th ed., Lippincott Williams & Wilkins, 2020. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease.
Hirschsprung Disease. In: Schaider JJJ, Barkin RMR, Hayden SRS, et al, eds. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2020. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease. Accessed December 10, 2024.
Hirschsprung Disease. (2020). In Schaider, J. J., Barkin, R. M., Hayden, S. R., Wolfe, R. E., Barkin, A. Z., Shayne, P., & Rosen, P. (Eds.), 5-Minute Emergency Consult (6th ed.). Lippincott Williams & Wilkins. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307225/all/Hirschsprung_Disease
Hirschsprung Disease [Internet]. In: Schaider JJJ, Barkin RMR, Hayden SRS, Wolfe RER, Barkin AZA, Shayne PP, Rosen PP, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2020. [cited 2024 December 10]. 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
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T1 - Hirschsprung Disease
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ED - Barkin,Adam Z,
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ED - Rosen,Peter,
ED - Schaider,Jeffrey J,
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ED - Hayden,Stephen R,
ED - Wolfe,Richard E,
BT - 5-Minute Emergency Consult
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PB - Lippincott Williams & Wilkins
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