Blood, 1960, Vol. 16, No. 5, pp. 1586-1608.
© 1960 American Society of Hematology, Inc.
Acanthrocytosis, Pigmentary Degeneration of the Retina
and Ataxic Neuropathy: A Genetically Determined
Syndrome with Associated Metabolic Disorder
MANUEL MIER 1,
STEVEN O. SCHWARTZ 1, and
BENJAMIN BOSHES 1
1 Department of Neurology and Psychiatry and the Department of Medicine,
Northwestern University Medical School and Chicago Wesley Memorial Hospital, Chicago,
Ill.
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.
Submitted on March 31, 1960
Accepted on July 3, 1960
