| CASE REPORT |
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| Year : 2008 | Volume
: 11
| Issue : 3 | Page : 182-184 |
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Fabry's disease: An ultrastructural study of nerve biopsy
N Gayathri1, TC Yasha1, Makarand Kanjalkar2, Santosh Agarwal3, BK Chandrashekar Sagar1, Vani Santosh1, SK Shankar1
1 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Manik Hospital and Research Center, Garkheda, India
3 Sushila Netralaya, Bansilal Nagar, Aurangabad, India
Correspondence Address:
N Gayathri
Electron microscope Laboratory, Department of Neuropathology, NIMHANS, Bangalore-560 029
India
DOI: 10.4103/0972-2327.42939 PMID: 19893666
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Fabry's disease, an X linked recessive disorder caused by the deficiency of a-galactosidase A (a-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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