Fabry's disease: An ultrastructural study of nerve biopsy.
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.
Gayathri
N
N
Yasha
T C
TC
Kanjalkar
Makarand
M
Agarwal
Santosh
S
Sagar
B K Chandrashekar
BK
Santosh
Vani
V
Shankar
S K
SK