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Alagille Syndrome
Journal Scan

Case report examines link between epidermoid cyst, Alagille syndrome

Posted on March 16, 2021

In this case report, a 24-year-old man with Alagille syndrome presented with hearing loss. An examination revealed a sizable posterior fossa mass. The lesion was resected and determined to be an epidermoid cyst.  

“While our case may represent a coincidental occurrence of two pathologies presenting together, given that epidermoid cysts arise from aberrant neurulation, and in light of the crucial role of the Notch signaling pathway both in normal neurogenesis and in the pathogenesis of Alagille syndrome, we hypothesize a possible association between these entities,” the authors concluded.

Reference
Surapaneni A, Kuo J, Wang M, et al. Epidermoid cyst in a patient with Alagille syndrome: Coincidence or connection? Surg Neurol Int. 2020;11:432. doi: 10.25259/SNI_611_2020. PMID: 33365194; PMCID: PMC7749940.

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