Cerebrotendinous xanthomatosis - A case report

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues. We present clinical and imaging features of a 32-year-old female who presented with mental retardation, gait instability and swelling along posterior aspect of both ankles. Imaging studies were performed which revealed spectrum of CTX findings in brain and tendons. Subsequently the diagnosis was confirmed by biopsy and laboratory tests.

Keywords

Cerebrotendinous xanthomatosis - cholestanol - dentate nucleus

Publikationsverlauf

Eingereicht: 22. November 2018

Angenommen: 10. September 2019

Artikel online veröffentlicht:
22. Juli 2021

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