Cerebrotendinous xanthomatosis
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Date
2001
Journal Title
Journal ISSN
Volume Title
Publisher
Access Rights
info:eu-repo/semantics/closedAccess
Abstract
Cerebrotendinous xanthomatosis is a rare metabolic disease of autosomal recessive inheritance. Clinical findings include tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels. We report a case aged 17 had painless, semimobile, solid masses on her both achilles tendon diagnosed as cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis must be considered in the diagnosis of patients with tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels.
Description
Keywords
Achilles Tendon, Cerebrotendinous Xanthomatosis
Journal or Series
Artroplasti Artroskopik Cerrahi
WoS Q Value
Scopus Q Value
N/A
Volume
12
Issue
1
