Fabry's disease: An ultrastructural study of nerve biopsy

Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biop...

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Detalles Bibliográficos
Autores principales: Gayathri, N., Yasha, T. C., Kanjalkar, Makarand, Agarwal, Santosh, Sagar, B. K. Chandrashekar, Santosh, Vani, Shankar, S. K.
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771983/
https://www.ncbi.nlm.nih.gov/pubmed/19893666
http://dx.doi.org/10.4103/0972-2327.42939
Descripción
Sumario:Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease.

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