Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings

Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, leading to defective bile acid synthesis and systemic accumulation of cholestanol with characteristic findings on imaging. We present a case of a patient with juvenile-...

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Main Authors: Hamza Ghazali Khan, MBBS, Gaurav Raj, MD, Eshita Yadav, MD, Kaustubh Gupta, MD, Dinkar Kulshreshtha, DM, Ratna, MB, MD, Anshumalini Panda, MD, Yogesh Kumar, MBBS
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Radiology Case Reports
Subjects:
Bilateral cataract
Cerebrotendinous xanthomatosis
Cholestanol
CYP27A1 mutation
Dentate nucleus
Xanthoma
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043325004753
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