Refsum Syndrome: Autosomal recessive genetic disorder
characterized by accumulation of phytanic acid. The clinical manifestations
appear around age 15 years and consist of hemeralopia (loss of vision in the
dark), distal motor polyneuropathy, perceptive deafness, cerebellar ataxia,
and severe mental retardation. Ichthyosis, polyepiphyseal dysplasia,
myocardiopathy, elevated protein in cerebrospinal fluid, and retinitis
pigmentosa may be present. Diagnosis is based on biologic evidence of
phytanic acid in plasma and urine. Phytanic acid comes exclusively from food
(green vegetables and herbivore animals).