Infantile Refsum Disease

Abstract

Two patients with infantile Refsum (phytanic acid storage) disease were treated at 9 mos and 5½ years of age with a low phytanic acid diet and the effects studied over a 2-yr period or longer in the Depts of Chemical Pathology, Neurology and Histopathology, Adelaide Children's Hospital, and the Dept of Neurology, Prince of Wales Children's Hospital, New South Wales, Australia

Keywords

• infantile refsum disease
• self-mutilating behavior
• chronic polyneuropathy