Marcaud V, Defontaines B, Jung P, Degos C F
Service de neurologie, Hôpital Saint-Joseph, 75014 Paris, France.
Rev Neurol (Paris). 2002 Feb;158(2):225-9.
Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disease caused by a defective alpha oxidation of a C20 fatty acid: the phytanic acid. Deficiency of a peroxysomal enzyme called "Phytanoyl-Co-A alpha hydroxylase" leads to an accumulation of phytanic acid. The clinical picture include retinitis pigmentosa, peripheral neuropathy, ataxia and elevated cerebrospinal fluid protein concentration. Firstly described in 1946 by Sigvald Refsum, dietary treatment leads to an improvement of neurological symptoms but does not affect retinal changes. To our knowledge, there is no data in the literature on long term follow-up. A patient with Refsum's disease diagnosed in 1965 presented with facial paralysis. The phytanic acid concentration was low, CSF protein level was normal leading to diagnosis of Bell's palsy. This observation is of particular interest because after 35 years evolution of the disease, the only handicap was visual impairment, with no loss of muscle strength or sensory deficit.
雷夫叙姆病（遗传性共济失调性多神经炎）是一种常染色体隐性疾病，由一种C20脂肪酸（植烷酸）的α氧化缺陷引起。一种名为“植烷酰辅酶Aα羟化酶”的过氧化物酶体酶缺乏会导致植烷酸积累。临床症状包括色素性视网膜炎、周围神经病变、共济失调以及脑脊液蛋白浓度升高。1946年由西格瓦尔德·雷夫叙姆首次描述，饮食治疗可改善神经症状，但不影响视网膜病变。据我们所知，文献中尚无关于长期随访的数据。一名于1965年被诊断为雷夫叙姆病的患者出现了面瘫。植烷酸浓度较低，脑脊液蛋白水平正常，从而诊断为贝尔麻痹。这一观察结果特别有趣，因为在疾病发展35年后，唯一的障碍是视力损害，没有肌肉力量丧失或感觉缺陷。
