Barolin G S, Hodkewitsch E, Höfinger E, Scholz H, Bernheimer H, Molzer B
Fortschr Neurol Psychiatr Grenzgeb. 1979 Feb;47(2):53-66.
Within a family refered here, two sisters are presenting heredopathia atactica polyneuritiformis (Morbus Refsum) with the complete clinical, electromyographical and serological findings (increased phytanic acid level, accumulation of mono- and diphytanyl, triglycerides). In addition, some symptoms of Refsum's disease are clinically apparent in the eight year old daughter of one of the patients, but significant principal characteristics are absent (dissociation of the spinal fluid, retinopathia pigmentosa, increased phytanic acid level). The phytanic acid level in the serum of ten clinically normal blood relations (three of which are also obligatory heterozygotes) is normal. In both patients with manifest illness we found not only the usual spinal fluid changes with highly increased protein levels (gammaglobulin, IgA- and IgG-fraction) but also a remarkably large number of macrophages with vacuoles. Within almost two years of keeping to a strict diet with low phytanic acid and phytol content, both patients showed a distinct clinical improvement in parallel with a decrease of the phytanic acid level. Even a temporary increase of the phytanic acid level in one of the patients did not cause clinical relapse. Regarding the biochemical control of the course of the disease, the phytanic acid containing triglycerides proved to be a highly sensitive parameter.
在本文提及的一个家族中，两姐妹患有遗传性多神经炎型共济失调（Refsum病），具有完整的临床、肌电图和血清学表现（植烷酸水平升高、单植烷酸和双植烷酸及甘油三酯蓄积）。此外，其中一名患者8岁的女儿临床上有一些Refsum病的症状，但缺乏显著的主要特征（脑脊液分离、色素性视网膜炎、植烷酸水平升高）。10名临床正常的血亲（其中3名也是必然杂合子）血清中的植烷酸水平正常。在两名明显患病的患者中，我们不仅发现了常见的脑脊液变化，蛋白质水平大幅升高（γ球蛋白、IgA和IgG组分），还发现了大量有液泡的巨噬细胞。在严格遵循低植烷酸和叶绿醇含量饮食近两年的时间里，两名患者的临床症状均有明显改善，同时植烷酸水平下降。即使其中一名患者的植烷酸水平暂时升高，也未导致临床复发。就疾病进程的生化控制而言，含植烷酸的甘油三酯被证明是一个高度敏感的参数。
