Open AccessFabry′s disease: An ultrastructural study of nerve biopsy
Author(s) -
Narayanappa Gayathri,
T C Yasha,
Makarand Kanjalkar,
S. K. Agarwal,
B. K. Chandrashekar Sagar,
Vani Santosh,
S K Shankar
Publication year - 2008
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.42939
Subject(s) - fabry disease , medicine , fabry's disease , pathology , nerve biopsy , biopsy , ultrastructure , muscle biopsy , disease , electron microscope , globotriaosylceramide , anatomy , peripheral neuropathy , endocrinology , diabetes mellitus , physics , optics
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.