title: Fabry's disease.
abstract: A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum alpha-galactosidase A. These findings confirmed the diagnosis of Fabry's disease.
authors.affiliation: Third Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kato
authors.forename: K
authors.initials: K
authors.lastname: Sato
authors.forename: S
authors.initials: S
authors.lastname: Hattori
authors.forename: S
authors.initials: S
authors.lastname: Ikemoto
authors.forename: M
authors.initials: M
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Isogai
mesh_terms: D000328:Adult; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D004730:Endothelium, Vascular / Q000648:ultrastructure; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D006801:Humans; D008297:Male