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J Cytol. 2017 Oct-Dec;34(4):227-229. doi: 10.4103/JOC.JOC_127_15.

Role of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas.

Journal of cytology

Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya

Affiliations

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

PMID: 29118481 PMCID: PMC5655663 DOI: 10.4103/JOC.JOC_127_15

Abstract

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.

Keywords: Cerebellar ataxia; cerebrotendinous xanthomatosis; cholestenol

Conflict of interest statement

There are no conflicts of interest.

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