Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis).
Five cases of heredopathia atactica polyneuritiformis (HAP--Refsum's disease) were treated by serial plasma exchanges. In all patients a reduction in calorie intake and body weight had been associated with a rise in plasma phytanic acid, followed by an exacerbation of the ataxia and neuropathy. Lowering the plasma phytanic acid by plasma exchange produced a rapid clinical improvement. The main indication for plasma exchange in HAP is a severe or rapidly worsening clinical condition. A lesser indication is failure of dietary management to reduce a high plasma phytanic acid level.
Harari
D
D
Department of Neurology, Westminster Hospital, London, UK.
Gibberd
F B
FB
Dick
J P
JP
Sidey
M C
MC
D000328:Adult; D001835:Body Weight / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010833:Phytic Acid / Q000008:administration & dosage / Q000097:blood; D010951:Plasma Exchange; D012035:Refsum Disease / Q000097:blood / Q000178:diet therapy / Q000628:therapy*
D010833:Phytic Acid