Role of cytology in early diagnosis of cerebrotendinous xanthomas

Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya

Journal of Cytology 2017 34(4):227-229

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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