Lévy R, Verny M, Brault J L, Gugenheim M, Maisonobe T, Léger J M
Service de Neurologie, Hôpital de la Salpêtrière, Paris.
Rev Neurol (Paris). 1996 Jun-Jul;152(6-7):469-72.
Refsum's disease is an autosomal recessive disease caused by defective alpha-oxidation of phytanic acid. The usual clinical presentation is the association of retinitis pigmentosa, ataxia and chronic severe sensorimotor polyneuropathy. A case of mild purely sensory neuropathy in a 40-year-old patient associated to high CSF protein level led to the diagnosis of Refsum's disease. The paucity of sensory symptoms and signs of neuropathy contrasted with severe reduction of motor and sensory nerve conduction velocities and markedly signs of sensory neuropathy observed in the nerve biopsy. Typical ring-scotomas, retinitis pigmentosa, anosmia, deafness, and high plasma phytanic acid level were present in extensive examination. There was no other case in the family.
雷夫叙姆病是一种常染色体隐性疾病，由植烷酸α-氧化缺陷引起。其常见临床表现为色素性视网膜炎、共济失调和慢性重度感觉运动性多神经病。一名40岁患者出现轻度纯感觉性神经病并伴有脑脊液蛋白水平升高，由此诊断为雷夫叙姆病。该患者感觉神经病变的症状和体征较少，这与运动和感觉神经传导速度严重降低形成对比，并且在神经活检中观察到明显的感觉神经病变体征。全面检查发现存在典型的环形暗点、色素性视网膜炎、嗅觉丧失、耳聋以及高血浆植烷酸水平。家族中无其他病例。
