title: [Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)].
abstract: An own observation of Refsum's disease is described. The female patient of 39 presented all characteristic symptoms of the disease, which had developed progressively starting at the age of 25: atypical retinitis pigmentosa with nightblindness and concentric constriction of the visual fields, cataracts, peripheral polyneuropathy with reduced nerve conduction velocity, ataxia, high protein level in CSF, ichthyosis-like cutaneous manifestations, sceletal anomalies, progressive sensorineural deafness, anosmia. Refsum's disease is a metabolic disorder based on an inborn enzyme defect, inherited by autosomal recessive transmission. It causes storage of phytanic acid in the body. Treatment consists in diet low in phytol and phytanic acid as well as large volume plasma exchanges.
mesh_terms: D000328:Adult; D002386:Cataract / Q000209:etiology; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D005260:Female; D006312:Hearing Loss, Bilateral / Q000209:etiology; D006801:Humans; D000857:Olfaction Disorders / Q000209:etiology; D010831:Phytanic Acid / Q000097:blood; D010951:Plasma Exchange; D012035:Refsum Disease / Q000178:diet therapy / Q000473:pathology*; D014012:Tinnitus / Q000209:etiology; D014717:Vertigo / Q000209:etiology
chemical_list: D002556:Cerebrospinal Fluid Proteins; D010831:Phytanic Acid
vernacular_title: Refsum-Syndrom Heredopathia atactica polyneuritiformis in der Sicht des HNO-Arztes.