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