The Senses Disease: a Refsum adult disease case report and a revision of literature

  • Filippo Camerota
  • Claudia Celletti
Keywords: Anosmia;, Phytanic acid;, Polyneuropathy, Refsum disease, Retinitis pigmentosa;


Refsum Disease is a rare autosomal recessive error of lipid metabolism; onset of symptoms in "classic Refsum disease" or "adult Refsum
disease" ranges from age seven months to after age 50 years. The identification of symptoms, that interest all the senses, is essential for
the management. We briefly describe a case occasionally diagnosed in adult life and analyzed the main aspects of this rare disease.