Acanthrocytosis, Pigmentary Degeneration of the Retina and Ataxic Neuropathy: A Genetically Determined Syndrome with Associated Metabolic Disorder

Abstract

Abstract Clinical and laboratory observations are reported in an 18 year old white male who had a celiac syndrome during childhood and subsequently developed a pigmentary degeneration of the retina and a progressive ataxic neuropathy. The red cells show a peculiar malformation, described as acanthrocytosis. The clinical manifestations are similar to those of four previously reported cases. Laboratory studies demonstrate many biochemical abnormalities. These are characterized by increased tolerance to carbohydrates, defective intestinal absorption of lipids, hypocholesterolemia, increased urinary excretion of copper, and elevation of certain enzymes in the serum. Although many vital facts remain unknown, it is suggested that a relationship exists between the clinical manifestations and the metabolic features of this syndrome.