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
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author Gayathri, N.
Yasha, T. C.
Kanjalkar, Makarand
Agarwal, Santosh
Sagar, B. K. Chandrashekar
Santosh, Vani
Shankar, S. K.
author_facet Gayathri, N.
Yasha, T. C.
Kanjalkar, Makarand
Agarwal, Santosh
Sagar, B. K. Chandrashekar
Santosh, Vani
Shankar, S. K.
author_sort Gayathri, N.
collection PubMed
description 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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spelling pubmed-27719832009-11-05 Fabry's disease: An ultrastructural study of nerve biopsy Gayathri, N. Yasha, T. C. Kanjalkar, Makarand Agarwal, Santosh Sagar, B. K. Chandrashekar Santosh, Vani Shankar, S. K. Ann Indian Acad Neurol Case Report 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. Medknow Publications 2008 /pmc/articles/PMC2771983/ /pubmed/19893666 http://dx.doi.org/10.4103/0972-2327.42939 Text en © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gayathri, N.
Yasha, T. C.
Kanjalkar, Makarand
Agarwal, Santosh
Sagar, B. K. Chandrashekar
Santosh, Vani
Shankar, S. K.
Fabry's disease: An ultrastructural study of nerve biopsy
title Fabry's disease: An ultrastructural study of nerve biopsy
title_full Fabry's disease: An ultrastructural study of nerve biopsy
title_fullStr Fabry's disease: An ultrastructural study of nerve biopsy
title_full_unstemmed Fabry's disease: An ultrastructural study of nerve biopsy
title_short Fabry's disease: An ultrastructural study of nerve biopsy
title_sort fabry's disease: an ultrastructural study of nerve biopsy
topic Case Report
url 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
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