Refsum Disease (Heredopathia Atactica Polyneuritiformis)

Heredopathia atactica polyneuritiformis, or simply Refsum disease, is an extremely rare autosomal recessive disorder of phytanic acid accumulation in plasma and various tissues. It typically occurs in the Scandinavian and Northern European countries. Patients with Refsum disease suffer from deficient activity in phytanoyl-CoA hydroxylase, a peroxisomal enzyme that phytanic acid, reaches cytotoxic levels. The disease is characterized by the tetrad of retinitis pigmentosa, polyneuropathy, cerebellar ataxia and elevated CSF protein. Variability in the clinical features includes ichthyosis, anosmia, cardiac arrhythmia, hearing loss and epiphyseal dysplasia.