Refsum-Syndrom Heredopathia atactica polyneuritiformis in der Sicht des HNO Arztes*

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Abstract
The 39-yr-old female patient presented all characteristic symptoms of Refsum''s disease, which had developed progressively starting at the age of 25 yr: atypical retinitis pige mentosa 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, skeletal anomalies, progressive sensorineural deafness, anosmia. Refsum''s disease is a metabolic disorder based on an inborn enzyme defect, inherited by autosomal recessive transmission, is causing storage of phytanic acid in the body. Treatment consists in diet low in phytol and phytanic acid and large volume plasma exchanges.

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