Refsum's disease: management by diet and plasmapheresis.
A case of Refsum's disease treated by serial plasma exchanges together with a moderate low phytanate diet is reported. Serial plasma exchanges determined a rapid significant clinical improvement (neuropathy and cerebellar ataxia) that allowed immediate return to full-time employment. The initial improvement could be maintained by intermittent serial plasmapheresis despite partial failure of the initially introduced low phytanate diet bringing 20 mg phytanic acid daily. A new dietary regimen bringing 10 mg phytanic acid was later introduced that was well tolerated. No liquid formula was used. The clinical improvement was clearly correlated to a fall in serum phytanic acid from 45.3 to 16.2 mg/100 ml.
Hungerbühler
J P
JP
Meier
C
C
Rousselle
L
L
Quadri
P
P
Bogousslavsky
J
J
D000328:Adult; D003131:Combined Modality Therapy; D004537:Eicosanoic Acids / Q000008:administration & dosage*; D006801:Humans; D008297:Male; D010831:Phytanic Acid / Q000008:administration & dosage* / Q000097:blood; D010956:Plasmapheresis; D012035:Refsum Disease / Q000097:blood / Q000178:diet therapy / Q000628:therapy*
D004537:Eicosanoic Acids; D010831:Phytanic Acid