Refsum disease. Clinical and morphological report on a case.
An atypical case of Refsum disease is reported together with the peripheral nerve morphological data. The body fluids must be assayed for phytanic acid whenever an atypical chronic peripheral neuropathy is observed.
D000293:Adolescent; D001826:Body Fluids / Q000032:analysis; D006801:Humans; D008297:Male; D010831:Phytanic Acid / Q000032:analysis; D012035:Refsum Disease / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*
D010831:Phytanic Acid