Hungerbühler J P, Meier C, Rousselle L, Quadri P, Bogousslavsky J
Eur Neurol. 1985;24(3):153-9. doi: 10.1159/000115788.
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.
报告了一例通过连续血浆置换联合适度低植烷酸饮食治疗的雷夫叙姆病病例。连续血浆置换带来了快速且显著的临床改善（神经病变和小脑共济失调），使得患者能够立即重返全职工作岗位。尽管最初引入的每日摄入20毫克植烷酸的低植烷酸饮食部分失效，但通过间歇性连续血浆置换仍可维持初始改善效果。后来引入了一种每日摄入10毫克植烷酸的新饮食方案，该方案耐受性良好。未使用液体配方。临床改善与血清植烷酸水平从45.3毫克/100毫升降至16.2毫克/100毫升明显相关。
