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Gastrointestinal - Hirschsprung Disease
In this episode, we review Hirschsprung disease, a congenital disorder caused by the absence of enteric ganglion cells in the distal colon, leading to functional obstruction and chronic constipation. We break down the embryologic failure of neural crest cell migration, classic neonatal findings such as delayed passage of meconium and bilious emesis, and the hallmark "squirt sign" on exam. The discussion highlights appropriate diagnostic strategies—including contrast enema and confirmatory rectal biopsy—and the role of surgical management.
References
1) Bushardt RL, Colomb-Lippa DM, Klinger AM, Reed H. The JAAPA QRS Review for PAs: Study Plan and Guide for PANCE and PANRE. 1st ed. LWW; 2021. ISBN: 9781975143817.
2) Lotfollahzadeh S, Taherian M, Anand S. Hirschsprung Disease. [Updated 2023 Jun 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK562142/
3) Zhang Y, Zhang X, Li C, Wei S, Tao J, Yang M. Risk factors for Hirschsprung's disease in infancy: a study from the NHANES database. Medicine (Baltimore). 2025;104(40):e44601. doi:10.1097/MD.0000000000044601.
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By Kristopher Maday, PA-C, DFAAPAIn this episode, we review Hirschsprung disease, a congenital disorder caused by the absence of enteric ganglion cells in the distal colon, leading to functional obstruction and chronic constipation. We break down the embryologic failure of neural crest cell migration, classic neonatal findings such as delayed passage of meconium and bilious emesis, and the hallmark "squirt sign" on exam. The discussion highlights appropriate diagnostic strategies—including contrast enema and confirmatory rectal biopsy—and the role of surgical management.
References
1) Bushardt RL, Colomb-Lippa DM, Klinger AM, Reed H. The JAAPA QRS Review for PAs: Study Plan and Guide for PANCE and PANRE. 1st ed. LWW; 2021. ISBN: 9781975143817.
2) Lotfollahzadeh S, Taherian M, Anand S. Hirschsprung Disease. [Updated 2023 Jun 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK562142/
3) Zhang Y, Zhang X, Li C, Wei S, Tao J, Yang M. Risk factors for Hirschsprung's disease in infancy: a study from the NHANES database. Medicine (Baltimore). 2025;104(40):e44601. doi:10.1097/MD.0000000000044601.