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Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis

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DOI: 10.4236/ojcd.2011.13006    6,536 Downloads   9,761 Views  
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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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Cite this paper

Kalina, P. (2011) Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis. Open Journal of Clinical Diagnostics, 1, 26-28. doi: 10.4236/ojcd.2011.13006.


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