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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2019; 29(03): 332-334
DOI: 10.4103/ijri.IJRI_444_18
Case Report

Cerebrotendinous xanthomatosis - A case report

Arshed Hussain Parry
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Abdul Haseeb Wani
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Muiez Bashir
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Tariq A Gojwari
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
› Author Affiliations Financial support and sponsorship Nil.
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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


Publication History

Received: 22 November 2018

Accepted: 10 September 2019

Article published online:
22 July 2021

© 2019. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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