Annals of Indian Academy of Neurology (Jan 2008)
Fabry′s disease: An ultrastructural study of nerve biopsy
Abstract
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.
