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Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis

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DOI: 10.4236/ojcd.2011.13006    6,470 Downloads   9,654 Views  
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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.

Conflicts of Interest

The authors declare no conflicts of interest.

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.

References

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