Abstract
The Refsum-Syndrom (heredopathia atactica polyneuritiformis), first described in 1944, has been reported in about 70 cases. This is the first case contributed from the otologic field. Symptoms are: peripheral polyneuronopathy, reduced nerve conduction velocity, ataxia, high protein levels in CSF, retinitis pigmentosa with nightblindness, concentric constriction of visual fields, cataracts, miosis and poor reaction of pupils, ichthyosis-like cutaneous manifestations, hammer toes and other sceletal malformations; concerning ENT there is a progressive sensorineural deafness associated with intact vestibular function, anosmia. The disease is caused by an inborn defect in the degradation of phytanic acid, which consequently is accumulated in all tissues. Therapy consists in a diet free of phytol and phytanic acid. The history and findings in a female patient of 39 are presented.
Published Version
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