Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis

Peter Kalina

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DOI: 10.4236/ojcd.2011.13006                

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.

Keywords

Cerebrotendinous Xanthomatosis; Cauda Equina; Peripheral Neuropathy

Conflicts of Interest

The authors declare no conflicts of interest.

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