Refsum Disease

Refsum disease is a rare autosomal recessive disorder of peroxisomal phytanic acid metabolism. Clinical features include peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia, and ichthyosis. Pathophysiology involves accumulation of phytanic acid leading to neurotoxicity. Diagnosis relies on elevated plasma phytanic acid, genetic testing, and clinical evaluation. Management includes dietary restriction of phytanic acid and supportive therapies; prognosis improves with early intervention but chronic neurological sequelae may persist.