Wall W J, Worthington B S
Clin Radiol. 1979 Nov;30(6):657-9. doi: 10.1016/s0009-9260(79)80014-8.
Refsum's disease is a rare inherited disease of lipid metabolism. The cardinal diagnostic features include polyneuritis, cerebellar ataxia, an atypical pigmentosa and a high CSF protein. The disorders is accompanied by the accumulation in the tissues, especially the liver and kidneys, of the lipid 'phytanic acid'. The disease is due to the absence of the enzyme phytanic acid alpha-hydroxylase which catalyses the conversion of phytanic acid to alpha-hydroxy phytanic acid the initial step in its further metabolism. In his original monograph Refsum (1945) documented a number of skeletal abnormalities and the full spectrum of changes that occur has become clear though the accumulating subsequent reports. This paper documents the osseous changes in three members with the disease in a single family. These include epiphyseal dysplasia, especially pronounced in the knees, and shortening and deformity of many of the tubular bones in the hands and feet.
雷夫叙姆病是一种罕见的脂质代谢遗传性疾病。主要诊断特征包括多神经炎、小脑共济失调、非典型色素沉着以及脑脊液蛋白含量高。该疾病伴有脂质“植烷酸”在组织中蓄积，尤其是肝脏和肾脏。这种疾病是由于缺乏植烷酸α-羟化酶，该酶催化植烷酸转化为α-羟基植烷酸，这是其进一步代谢的第一步。在其最初的专题论文中，雷夫叙姆（1945年）记录了一些骨骼异常情况，随着后续报告的不断积累，所发生的全部变化已变得清晰。本文记录了一个家族中三名患有该疾病成员的骨骼变化。这些变化包括骨骺发育异常，在膝盖处尤为明显，以及手足许多管状骨的缩短和畸形。
