TITLE:
Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis
AUTHORS:
Peter Kalina
KEYWORDS:
Cerebrotendinous Xanthomatosis; Cauda Equina; Peripheral Neuropathy
JOURNAL NAME:
Open Journal of Clinical Diagnostics,
Vol.1 No.3,
December
9,
2011
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.