case report: Refsum's disease

ABSTRACT

Refsum's disease is an autosomal recessive disorder. The clinical features include retinitis pigmentosa, blindness, anosmia deafness, ataxia and accumulation of phytanic acid in plasma. A 12-year old boy presented with retinitis pigmentosa, sensorineural deafness and distal lower limb weakness and wasting two years ago. Physical examination did not reveal an objective area of sensory loss. We detected muscles wasting in bilateral legs. Deep tendon reflexes at the ankles and knees were absent bilaterally. Upper limb reflexes were decreased and his gait was ataxic. In electrodiagnostic study, findings were compatible with motor and sensory neuropathy. Phytanic acid in serum analysis was highly raised. Although rare, Refsum's disease is partially treatable and early recognition may prevent visual and auditory deterioration