REFSUMS-DISEASE - A UNIQUE CASE

Authors
JAFFE DF CREZEE KS MASON S LEAVENSCHIARELLI T LAWRENCE W
Citation
Df. Jaffe et al., REFSUMS-DISEASE - A UNIQUE CASE, Journal of the American Podiatric Medical Association, 88(8), 1998, pp. 406-409
Citations number
11
Categorie Soggetti
Orthopedics
Journal title
Journal of the American Podiatric Medical Association → ACNP
ISSN journal
87507315
Volume
88
Issue
8
Year of publication
1998
Pages
406 - 409
Database
ISI
SICI code
8750-7315(1998)88:8<406:R-AUC>2.0.ZU;2-3
Abstract
Refsum's disease, or heredopathia atactica polyneuritiformis, is a per oxisomal disorder leading to the accumulation of phytanic acid through out the body. It affects sensory and motor neurons and the skeletal sy stem. Peripheral neuropathy, ataxia, blindness, deafness, and skeletal hyperostosis are significant findings used in the diagnosis of the di sease.