[Clinical picture and pathogenesis of the Refsum syndrome].
The author reports of 2 cases (sisters of 13 and 15 years old) with the Refsum syndrome. The disease had its onset at the age of 12 and 5 years with a progressive development and remissions. The clinical picture was characterized by a recurrent syndrome of polyradiculoneurites with a slight protein cellular dissociation in the CSF, an expressed sensitive ataxia with elements of cerebellar disorders, a drop in the acuity of sight, audition, intellectual level and a deformation of the talipes of the Friedreich type. In a single examination of fatty acids in the blood serum by the method of gas chromotography there were no data pointing to the existence of 3, 7, 11, 15-tetra metylhexadecone acids. On the basis of an immunological study the author discusses the role of autoimmune reactions in the pathogenesis of the diseases. A differential diagnosis was conducted between acanthocytosis and porphyria with recommendations in regard to treatment.
D000052:Acanthosis Nigricans / Q000175:diagnosis; D000293:Adolescent; D001323:Autoantibodies; D001921:Brain / Q000276:immunology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011164:Porphyrias / Q000175:diagnosis; D012035:Refsum Disease / Q000175:diagnosis* / Q000276:immunology / Q000628:therapy
D001323:Autoantibodies
K kliniki i patogenezu sindroma Refsuma.