Fabry's disease.
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.
Kato
H
H
Third Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
Sato
K
K
Hattori
S
S
Ikemoto
S
S
Shimizu
M
M
Isogai
Y
Y
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