Feldmann H
Laryngol Rhinol Otol (Stuttg). 1981 May;60(5):235-40.
An own observation of Refsum's disease is described. The female patient of 39 presented all characteristic symptoms of the disease, which had developed progressively starting at the age of 25: atypical retinitis pigmentosa with nightblindness and concentric constriction of the visual fields, cataracts, peripheral polyneuropathy with reduced nerve conduction velocity, ataxia, high protein level in CSF, ichthyosis-like cutaneous manifestations, sceletal anomalies, progressive sensorineural deafness, anosmia. Refsum's disease is a metabolic disorder based on an inborn enzyme defect, inherited by autosomal recessive transmission. It causes storage of phytanic acid in the body. Treatment consists in diet low in phytol and phytanic acid as well as large volume plasma exchanges.
本文描述了对雷夫叙姆病的一项个人观察。该39岁女性患者呈现出该病的所有特征性症状，这些症状自25岁起逐渐发展：伴有夜盲和视野同心性缩窄的非典型视网膜色素变性、白内障、神经传导速度降低的周围性多发性神经病、共济失调、脑脊液中蛋白质水平升高、鱼鳞病样皮肤表现、骨骼异常、进行性感觉神经性耳聋、嗅觉丧失。雷夫叙姆病是一种基于先天性酶缺陷的代谢紊乱疾病，通过常染色体隐性遗传。它导致植烷酸在体内蓄积。治疗方法包括低植醇和植烷酸饮食以及大量血浆置换。
