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| NEURORADIOLOGY |
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| Year : 2009 |
Volume
: 19 | Issue : 4 | Page
: 314-317 |
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Case Report: Cerebrotendinous xanthomatosis
Amit A Karandikar, S Pushparajan, Madhavan N Unni, R Srinivas
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
India
 Source of Support: None, Conflict of Interest: None  | Check |
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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