Refsum's disease: management by diet and plasmapheresis.

Abstract

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.

• Authors: J P Hungerbühler, C Meier, L Rousselle, P Quadri, J Bogousslavsky
• Journal: European neurology (Eur Neurol) Vol. 24 Issue 3 Pg. 153-9 ( 1985) ISSN: 0014-3022 [Print] Switzerland
• PMID: 2581787 (Publication Type: Case Reports, Journal Article)

Chemical References

• Eicosanoic Acids
• Phytanic Acid

Topics

• Adult
• Combined Modality Therapy
• Eicosanoic Acids (administration & dosage)
• Humans
• Male
• Phytanic Acid (administration & dosage, blood)
• Plasmapheresis
• Refsum Disease (blood, diet therapy, therapy)