Journal of Cytology
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CASE REPORT
Year : 2017  |  Volume : 34  |  Issue : 4  |  Page : 227-229

Role of cytology in early diagnosis of cerebrotendinous xanthomas


Department of Pathology, Burdwan Medical College, Burdwan, West Bengal, India

Correspondence Address:
Shreosee Roy
Department of Pathology, Burdwan Medical College, Burdwan, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JOC.JOC_127_15

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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.


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