Role of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas.

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.

• Authors: Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya
• Journal: Journal of cytology (J Cytol) 2017 Oct-Dec Vol. 34 Issue 4 Pg. 227-229 ISSN: 0970-9371 [Print] India
• PMID: 29118481 (Publication Type: Case Reports)