Refsum, Sigvald (1907 - ?)

Refsum's disease

  • autosomal recessive defect in fatty acid metabolism
  • increased phytanic acid
  • peripheral neuropathy
  • cerebellar ataxia
  • deafness
  • retinitis pigmentosa

Curriculum Vitae
Norwegian neurologist
Born in Telemark, Norway


Medicine in the University of Oslo
Qualified in 1932
Doctorate in 1946 with thesis entitled " Heredopathia atactica polyneuritiformis"
Senior physician in Rikshopitalet, Osle (1936 - 1946)
Professor neurologist, University of Bergen (1952 - 1978)
Retired in 1978
Refsum S (1945) Heredopathia atactica polyneuritiformis - et tidligere ikke beskrevet familiaert syndrom? Nord Med 28: 2682
Refsum S (1946) Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto described. Acta Psychiatr Neurol 38:1
Click here for the questions Click here for the main page Click here for FRCOphth/MRCOphth
/FRCS tutorials