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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2009; 19(04): 314-317
DOI: 10.4103/0971-3026.57218
Neuroradiology

Case Report: Cerebrotendinous xanthomatosis

Amit A Karandikar
Department of Radiology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
S Pushparajan
Department of Radiology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
Madhavan N Unni
Department of Radiology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
R Srinivas
Department of Radiology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
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Abstract

Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and bilateral Achilles tendon xanthomas. She was thoroughly investigated radiologically and biopsy confirmed the diagnosis of xanthomas.

Keywords

Cerebrotendinous xanthomatosis - cholestanol


Publication History

Article published online:
02 August 2021

© 2009. 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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