[Refsum's syndrome (author's transl)].
Heredopathia atactica polyneuritiformis (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, skeletal anomalies, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes. Biochemically it is a lipidosis with atypical increase of phytanic acid in blood, CSF, and tissues. The metabolic defect results from a degradation disturbance of exogenous phytanic acid. The report of a patient whose clinical picture plus chemical, neurophysiological and histological results led to the diagnosis of Refsum's syndrome is presented. Using a low phytol- and phytanic-acid diet a marked decrease of phytanic acid in the serum and an improvement of the clinico-neurological signs were observed.
D005132:Eye Manifestations; D006801:Humans; D008297:Male; D008875:Middle Aged; D009461:Neurologic Manifestations; D009755:Night Blindness / Q000209:etiology; D010831:Phytanic Acid / Q000097:blood / Q000134:cerebrospinal fluid; D012035:Refsum Disease / Q000097:blood / Q000175:diagnosis* / Q000178:diet therapy; D012877:Skin Manifestations
D010831:Phytanic Acid
Refsum-Syndrom (Heredopathia atactica polyneuritiformis). Klinik, Diagnostik und diätetische Behandlung.