Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review

Abstract Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation of the disease is quite wide. We planned to briefly review the literature with this case diagnosed as a CTX. Case A 50-yea...

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Bibliographic Details
Main Authors: Sinan Eliaçık, Gülsüm Çil
Format: Article
Language:English
Published: SpringerOpen 2023-04-01
Series:The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Subjects:
Online Access:https://doi.org/10.1186/s41983-023-00644-4