Ref·sum \ˈref-su̇m\ Sigvald Bernhard (1907–1991), Norwegian physician. Refsum served as a professor of neurology and as a specialist in neurology and psychiatry at a succession of Norwegian hospitals. In addition to identifying Refsum's disease, he did research on the genetic aspects of neurology.
Medical Dictionary
Refsum's disease
noun Ref·sum's disease \ˈref-səmz-\
Medical Definition of REFSUM'S DISEASE
: an autosomal recessive lipidosis characterized by faulty metabolism of phytanic acid resulting in its accumulation in the blood, retinitis pigmentosa, ataxia, deafness, and mental retardation
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