Skeletal changes in Refsum's disease.
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.
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D012035:Refsum Disease / Q000000981:diagnostic imaging* / Q000235:genetics