Case Report: Cerebrotendinous xanthomatosis

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 tho...

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Detalles Bibliográficos
Autores principales: Karandikar, Amit A, Pushparajan, S, Unni, Madhavan N, Srinivas, R
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797749/
https://www.ncbi.nlm.nih.gov/pubmed/19881113
http://dx.doi.org/10.4103/0971-3026.57218
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author Karandikar, Amit A
Pushparajan, S
Unni, Madhavan N
Srinivas, R
author_facet Karandikar, Amit A
Pushparajan, S
Unni, Madhavan N
Srinivas, R
author_sort Karandikar, Amit A
collection PubMed
description 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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spelling pubmed-27977492009-12-29 Case Report: Cerebrotendinous xanthomatosis Karandikar, Amit A Pushparajan, S Unni, Madhavan N Srinivas, R Indian J Radiol Imaging Case Report 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. Medknow Publications 2009-11 /pmc/articles/PMC2797749/ /pubmed/19881113 http://dx.doi.org/10.4103/0971-3026.57218 Text en © Indian Journal of Radiology and Imaging http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Karandikar, Amit A
Pushparajan, S
Unni, Madhavan N
Srinivas, R
Case Report: Cerebrotendinous xanthomatosis
title Case Report: Cerebrotendinous xanthomatosis
title_full Case Report: Cerebrotendinous xanthomatosis
title_fullStr Case Report: Cerebrotendinous xanthomatosis
title_full_unstemmed Case Report: Cerebrotendinous xanthomatosis
title_short Case Report: Cerebrotendinous xanthomatosis
title_sort case report: cerebrotendinous xanthomatosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797749/
https://www.ncbi.nlm.nih.gov/pubmed/19881113
http://dx.doi.org/10.4103/0971-3026.57218
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