DANIEL STEINBERG, M.D., PH.D.; FREDERIC Q. VROOM, M.D.; W. KING ENGEL, M.D.; JAN CAMMERMEYER, M.D.; CHARLES E. MIZE, M.D., PH.D.; JOEL AVIGAN, PH.D.
Dr. Daniel Steinberg: About the time of World War II, a young Norwegian neurologist, Sigvald Refsum, became intrigued with four patients referred to the Neurology Department of the Rikshospitalet in Oslo. Two were a brother and a sister from one family, and the other two were cousins from a second family. The clinical features were unusual and shared a common pattern in all four subjects. Unable to fit the pattern into any previously described category, he reported his findings in 1945 (1), suggesting that these patients presented a new syndrome to which he eventually gave the name "heredopathia atactica polyneuritiformis"
STEINBERG D, VROOM FQ, ENGEL WK, CAMMERMEYER J, MIZE CE, AVIGAN J. Refsum's Disease—A Recently Characterized Lipidosis Involving the Nervous System: Combined Clinical Staff Conference at the National Institutes of Health. Ann Intern Med. ;66:365–395. doi: 10.7326/0003-4819-66-2-365
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Published: Ann Intern Med. 1967;66(2):365-395.
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