[Clinical and biochemical follow up of Refsum's disease (author's transl)].
Within a family refered here, two sisters are presenting heredopathia atactica polyneuritiformis (Morbus Refsum) with the complete clinical, electromyographical and serological findings (increased phytanic acid level, accumulation of mono- and diphytanyl, triglycerides). In addition, some symptoms of Refsum's disease are clinically apparent in the eight year old daughter of one of the patients, but significant principal characteristics are absent (dissociation of the spinal fluid, retinopathia pigmentosa, increased phytanic acid level). The phytanic acid level in the serum of ten clinically normal blood relations (three of which are also obligatory heterozygotes) is normal. In both patients with manifest illness we found not only the usual spinal fluid changes with highly increased protein levels (gammaglobulin, IgA- and IgG-fraction) but also a remarkably large number of macrophages with vacuoles. Within almost two years of keeping to a strict diet with low phytanic acid and phytol content, both patients showed a distinct clinical improvement in parallel with a decrease of the phytanic acid level. Even a temporary increase of the phytanic acid level in one of the patients did not cause clinical relapse. Regarding the biochemical control of the course of the disease, the phytanic acid containing triglycerides proved to be a highly sensitive parameter.
D000328:Adult; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D004576:Electromyography; D005260:Female; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D010831:Phytanic Acid / Q000097:blood; D010836:Phytol; D012035:Refsum Disease / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D014280:Triglycerides / Q000097:blood
D002556:Cerebrospinal Fluid Proteins; D014280:Triglycerides; D010831:Phytanic Acid; D010836:Phytol
Klinisch-biochemische Verlaufsuntersuchungen bei Heredopathia atactica polyneuritiformis (Morbus Refsum).