Xantomatosis cerebrotendinosa
Keywords:
xantomas tendinosos, xantomatosis cerebrotendinosaAbstract
Presentamos un paciente de cuarenta y dos años de edad con síndrome convulsivo, cataratas, retardo mental, paraparesia espástica de miembros inferiores, xantomas tendinosos, consanguinidad en sus padres, y hermanos con alteraciones similares. Su perfil lipídico era normal, atrofia cerebelosa y biopsia con
diagnóstico de xantomas, con lo cual se hace diagnóstico de una xantomatosis cerebrotendinosa.
Author Biographies
Andrea Vargas, Universidad de Antioquia
RII, Dermatología, Universidad de Antioquia, Medellín.
Luis Alfonso Gómez, Universidad de Antioquia
Docente Dermatopatología Universidad de Antioquia.
Fernando Vallejo, Universidad de Antioquia
Docente Dermatología Universidad de Antioquia
References
1. Bel S, García V, Rodríguez L, et al. Cerebrotendinous xantomathosis. J Am Acad Dermatol 2001; 45:292-295.
https://doi.org/10.1067/mjd.2001.113690
2. Verrips A, Hoefsloot L, Steenbergen H, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 2000; 123(5):908-919.
https://doi.org/10.1093/brain/123.5.908
3. Chloe M M, Karem SL Lam, Kathryn CB Tan, et al. Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1 G> T in the esterol 27-hydroxylasa gene. Molecular Genetics and Metabolism 2004;81: 144-146.
https://doi.org/10.1016/j.ymgme.2003.11.005
4. Mondelli M, Sicurelli F, Scarpini Ch, et al. Cerebrotendinous xanthomatosis: 11 year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci 2001; 190:29-33.
https://doi.org/10.1016/S0022-510X(01)00563-9
5. lto S, Kuwabara S, Sakakibara R, et al. Combined treatment with LDL apheresis, chenodeoxycholic acid and HMG-CoA reductasa inhibitor for cerebrotendinous xanthomatosis. J Neurol Sci 2003; 216:179-182.
https://doi.org/10.1016/j.jns.2003.07.005
6. Cali J, Hsieh C, Francke U, Russell D. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underle cerebrotendinous xanthomatosis. J. Biol Chem 1991; 266: 7779-7783.
https://doi.org/10.1067/mjd.2001.113690
2. Verrips A, Hoefsloot L, Steenbergen H, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 2000; 123(5):908-919.
https://doi.org/10.1093/brain/123.5.908
3. Chloe M M, Karem SL Lam, Kathryn CB Tan, et al. Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1 G> T in the esterol 27-hydroxylasa gene. Molecular Genetics and Metabolism 2004;81: 144-146.
https://doi.org/10.1016/j.ymgme.2003.11.005
4. Mondelli M, Sicurelli F, Scarpini Ch, et al. Cerebrotendinous xanthomatosis: 11 year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci 2001; 190:29-33.
https://doi.org/10.1016/S0022-510X(01)00563-9
5. lto S, Kuwabara S, Sakakibara R, et al. Combined treatment with LDL apheresis, chenodeoxycholic acid and HMG-CoA reductasa inhibitor for cerebrotendinous xanthomatosis. J Neurol Sci 2003; 216:179-182.
https://doi.org/10.1016/j.jns.2003.07.005
6. Cali J, Hsieh C, Francke U, Russell D. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underle cerebrotendinous xanthomatosis. J. Biol Chem 1991; 266: 7779-7783.
How to Cite
1.
Vargas A, Gómez LA, Vallejo F. Xantomatosis cerebrotendinosa. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2005 Oct. 1 [cited 2024 Jul. 3];13(3):239-41. Available from: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/541
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Published
2005-10-01
How to Cite
1.
Vargas A, Gómez LA, Vallejo F. Xantomatosis cerebrotendinosa. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2005 Oct. 1 [cited 2024 Jul. 3];13(3):239-41. Available from: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/541
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