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NEURORADIOLOGY Table of Contents   
Year : 2009  |  Volume : 19  |  Issue : 4  |  Page : 314-317
Case Report: Cerebrotendinous xanthomatosis

Department of Radiology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India

Correspondence Address:
Amit A Karandikar
Department of Radiology, Kerala Institute of Medical Sciences, P.B. No. 1, Anayara P.O., Trivandrum - 695 029, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-3026.57218

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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.

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