Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a CYP27A1 genotype newly identified in morocco: a literature review of African cases.

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX; OMIM 213700) is a rare autosomal recessive neurometabolic disorder caused by pathogenic variants in CYP27A1 (OMIM 606530), encoding sterol 27-hydroxylase. Enzymatic deficiency impairs bile acid synthesis and leads to systemic accumulation of cholestanol and cholesterol, resulting in progressive multisystem involvement. Neurological manifestations often coexist with tendon...

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