Role of cytology in early diagnosis of cerebrotendinous xanthomas
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arter...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Journal of Cytology |
| Subjects: | |
| Online Access: | http://www.jcytol.org/article.asp?issn=0970-9371;year=2017;volume=34;issue=4;spage=227;epage=229;aulast=Roy |
| _version_ | 1818381311752011776 |
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| author | Shreosee Roy Arghya Bandyopadhyay Kaushik Bose Soumi Bhattacharyya |
| author_facet | Shreosee Roy Arghya Bandyopadhyay Kaushik Bose Soumi Bhattacharyya |
| author_sort | Shreosee Roy |
| collection | DOAJ |
| description | Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arteriosclerosis. Because it is a treatable cause of cerebellar ataxia and dementia, its early diagnosis is desirable. Here, we have reported the case of an 11-year-old boy with this disorder who was diagnosed based on the cytological findings of fine needle aspiration and clinical features. |
| first_indexed | 2024-12-14T02:32:34Z |
| format | Article |
| id | doaj.art-fdee37a0a9564f4bacd72326317154ea |
| institution | Directory Open Access Journal |
| issn | 0970-9371 |
| language | English |
| last_indexed | 2024-12-14T02:32:34Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Cytology |
| spelling | doaj.art-fdee37a0a9564f4bacd72326317154ea2022-12-21T23:20:13ZengWolters Kluwer Medknow PublicationsJournal of Cytology0970-93712017-01-0134422722910.4103/JOC.JOC_127_15Role of cytology in early diagnosis of cerebrotendinous xanthomasShreosee RoyArghya BandyopadhyayKaushik BoseSoumi BhattacharyyaCerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arteriosclerosis. Because it is a treatable cause of cerebellar ataxia and dementia, its early diagnosis is desirable. Here, we have reported the case of an 11-year-old boy with this disorder who was diagnosed based on the cytological findings of fine needle aspiration and clinical features.http://www.jcytol.org/article.asp?issn=0970-9371;year=2017;volume=34;issue=4;spage=227;epage=229;aulast=RoyCerebellar ataxiacerebrotendinous xanthomatosischolestenol |
| spellingShingle | Shreosee Roy Arghya Bandyopadhyay Kaushik Bose Soumi Bhattacharyya Role of cytology in early diagnosis of cerebrotendinous xanthomas Journal of Cytology Cerebellar ataxia cerebrotendinous xanthomatosis cholestenol |
| title | Role of cytology in early diagnosis of cerebrotendinous xanthomas |
| title_full | Role of cytology in early diagnosis of cerebrotendinous xanthomas |
| title_fullStr | Role of cytology in early diagnosis of cerebrotendinous xanthomas |
| title_full_unstemmed | Role of cytology in early diagnosis of cerebrotendinous xanthomas |
| title_short | Role of cytology in early diagnosis of cerebrotendinous xanthomas |
| title_sort | role of cytology in early diagnosis of cerebrotendinous xanthomas |
| topic | Cerebellar ataxia cerebrotendinous xanthomatosis cholestenol |
| url | http://www.jcytol.org/article.asp?issn=0970-9371;year=2017;volume=34;issue=4;spage=227;epage=229;aulast=Roy |
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