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Karandikar AA, Pushparajan S, Unni MN, et al. Case Report: Cerebrotendinous xanthomatosis. Indian J Radiol Imaging. 2009;19(4):314-7doi: 10.4103/0971-3026.57218.
Karandikar, A. A., Pushparajan, S., Unni, M. N., & Srinivas, R. (2009). Case Report: Cerebrotendinous xanthomatosis. The Indian journal of radiology & imaging, 19(4), 314-7. https://doi.org/10.4103/0971-3026.57218
Karandikar, Amit A, et al. "Case Report: Cerebrotendinous xanthomatosis." The Indian journal of radiology & imaging vol. 19,4 (2009): 314-7. doi: https://doi.org/10.4103/0971-3026.57218
Karandikar AA, Pushparajan S, Unni MN, Srinivas R. Case Report: Cerebrotendinous xanthomatosis. Indian J Radiol Imaging. 2009 Oct-Dec;19(4):314-7. doi: 10.4103/0971-3026.57218. PMID: 19881113; PMCID: PMC2797749.
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Indian J Radiol Imaging. 2009 Oct-Dec;19(4):314-7. doi: 10.4103/0971-3026.57218.

Case Report: Cerebrotendinous xanthomatosis.

The Indian journal of radiology & imaging

Amit A Karandikar, S Pushparajan, Madhavan N Unni, R Srinivas

Affiliations

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

PMID: 19881113 PMCID: PMC2797749 DOI: 10.4103/0971-3026.57218

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.

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