Fabry's disease: An ultrastructural study of nerve biopsy

被引：4
|
作者：
Gayathri, N. [1 ]
Yasha, T. C.
Kanjalkar, Makarand [2 ]
Agarwal, Santosh [3 ]
Sagar, B. K. Chandrashekar
Santosh, Vani
Shankar, S. K.
机构：
[1] Natl Inst Mental Hlth & Neurosci, Dept Neuropathol, Electron Microscope Lab, Bangalore 560029, Karnataka, India
[2] Manik Hosp & Res Ctr, Garkheda, India
[3] Sushila Netralaya, Aurangabad, Maharashtra, India
来源：
ANNALS OF INDIAN ACADEMY OF NEUROLOGY | 2008年 / 11卷 / 03期
关键词：
angiokeratomas; Fabry's disease; lamellated inclusions;
D O I：
10.4103/0972-2327.42939
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Fabry's disease, an X linked recessive disorder caused by the deficiency of alpha-galactosidase A(alpha-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.
引用
收藏
页码：182 / 184
页数：3
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