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 α-galactosidase A. These findings confirmed the diagnosis of Fabry's disease. © 1992, The Japanese Society of Internal Medicine. All rights reserved.
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Kato, H., Sato, K., Hattori, S., Ikemoto, S., Shimizu, M., & Isogai, Y. (1992). Fabry’s Disease. Internal Medicine, 31(5), 682–685. https://doi.org/10.2169/internalmedicine.31.682
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