Article
Bilateral Achilles tendon enlargement.
Orthopedics - 6 Dec 2011
Huang Lu, Miao Xu-dong, Yang Di-sheng, Tao Hui-min
Abstract excerpt
Cerebrotendinous xanthomatosis is a rare, autosomal-recessive, lipid-storage disease with accumulation of cholestanol in most tissues, particularly within the Achilles tendons. It has been characterized both clinically and biochemically, and recently from the molecular biological aspect as well. Juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and tendon xanthomas are the most...
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