| Autor: |
Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Journal of Cytology, Vol 34, Iss 4, Pp 227-229 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
0970-9371 |
| DOI: |
10.4103/JOC.JOC_127_15 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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