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Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis

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Author(s): Peter Kalina

Journal: Open Journal of Clinical Diagnostics
ISSN 2162-5816

Volume: 01;
Issue: 03;
Start page: 26;
Date: 2011;
Original page

Keywords: Cerebrotendinous Xanthomatosis | Cauda Equina | Peripheral Neuropathy

ABSTRACT
CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons.

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