[Refsum's disease].
Refsum's disease although rare is of great interest for it may benefit at least partially from treatment. Its clinical diagnosis depends on the association of pigmented retinitis, polyneuritis and cerebellar syndrome. It is confirmed beyond doubt by the increased C.S.F. protein and phytanemia. A full family history is necessary for it is possible to detect heterozygous carriers of the defect by enzyme studies on fibroblast cultures.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000418:Albumins / Q000134:cerebrospinal fluid; D001847:Bone Diseases / Q000150:complications; D002524:Cerebellar Ataxia / Q000150:complications; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D002648:Child; D005132:Eye Manifestations; D005260:Female; D006311:Hearing Disorders / Q000150:complications; D006331:Heart Diseases / Q000150:complications; D006801:Humans; D007074:Immunoglobulin G / Q000134:cerebrospinal fluid; D007075:Immunoglobulin M / Q000134:cerebrospinal fluid; D008297:Male; D008875:Middle Aged; D000857:Olfaction Disorders / Q000150:complications; D010831:Phytanic Acid / Q000097:blood / Q000134:cerebrospinal fluid; D010836:Phytol / Q000378:metabolism; D011115:Polyneuropathies / Q000150:complications; D012035:Refsum Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D012871:Skin Diseases / Q000150:complications
D000418:Albumins; D002556:Cerebrospinal Fluid Proteins; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D010831:Phytanic Acid; D010836:Phytol
La maladie de Refsum