Thümler R, Atzpodien W, Kremer G J, Haferkamp G
Dtsch Med Wochenschr. 1977 Oct 14;102(41):1454-7. doi: 10.1055/s-0028-1105520.
Heredopathia atactica polyneuritiformis (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, skeletal anomalies, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes. Biochemically it is a lipidosis with atypical increase of phytanic acid in blood, CSF, and tissues. The metabolic defect results from a degradation disturbance of exogenous phytanic acid. The report of a patient whose clinical picture plus chemical, neurophysiological and histological results led to the diagnosis of Refsum's syndrome is presented. Using a low phytol- and phytanic-acid diet a marked decrease of phytanic acid in the serum and an improvement of the clinico-neurological signs were observed.
遗传性共济失调性多神经炎型（Refsum综合征）是一种常染色体隐性遗传的脂质沉积症，具有以下体征：周围性肥厚性多神经病、小脑共济失调、伴有夜盲和视野同心性缩小的非典型视网膜色素变性、嗅觉缺失、内耳听力障碍、骨骼异常、鱼鳞样皮肤改变、脑脊液中蛋白升高但细胞数无增加以及非特异性心电图改变。从生化角度来看，它是一种脂质沉积症，血液、脑脊液和组织中的植烷酸出现非典型性增加。这种代谢缺陷是由外源性植烷酸降解障碍导致的。本文报告了一名患者，其临床表现以及化学、神经生理学和组织学检查结果均支持Refsum综合征的诊断。采用低植醇和植烷酸饮食后，观察到血清中植烷酸显著减少，临床神经学体征有所改善。
