Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis

.
DOI: 10.4236/ojcd.2011.13006   PDF   HTML     6,668 Downloads   9,957 Views  

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.

Share and Cite:

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.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Wallon, D., Guyant-Marechal, L. and Laquerriere, A. (2010) Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis. Clinical Neuropathology, 29, 361-364.
[2] Pilo, B., De Blas, G. and Sobrido, M. (2011) Neurophysiological study in cerebrotendinous xanthomatosis. Muscle Nerve, 43, 531-536. doi:10.1002/mus.21905
[3] Wang, Z., Yuan, Y. and Zhang, W. (2007) Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy. Neuropathology, 27, 62-66. doi:10.1111/j.1440-1789.2006.00739.x
[4] DeStefano, N., Dotti, M., Mortilla, M. and Federico, A. (2001) Magnetic resonance imaging and spectroscopic findings in brain of patients with cerebrotendinous xanthomatosis. Brain, 124, 121-131. doi:10.1093/brain/124.1.121
[5] Federico, A. and Dotti, M. (2003) Cerebrotendinous xanthomatosis: Clinical manifestations, diagnostic criteria, pathogenesis and therapy. Journal of Child Neurology, 18, 633-638. doi:10.1177/08830738030180091001
[6] Rafiq, M., Sharrack, N., Shaw, P. and Hadjivassiliou, M. (2011) A neurological rarity not to be missed: Cerebrotendinous xanthomatosis. Practice Neurology, 11, 296-300. doi:10.1136/practneurol-2011-000003
[7] Chen, S., Tsai, N., Chang, C., et al. (2011) Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. Bio Medical Central Neurology, 11, 63-72.

  
comments powered by Disqus

Copyright © 2020 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.