We present a 70-year-old male patient of Greek origin with choreatic movements of the tongue and face, lower limb muscle weakness, peripheral neuropathy, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional Factor IX-deficiency.
McLeod syndrome is an Xp21-linked Kell blood group variant due to lack of erythrocyte protein Kx with associated RBC membrane dysfunction such as acanthocytosis.
Although some subjects showed acanthocytosis total cholesterol (0.63 +/- 0.05 mol x 10(-6)/mg membrane protein) and sphingomyelin/lecithin ratio (0.905 +/- 0.042) of RBC membranes were normal while plasma from the subject with schistocytosis had a significantly decreased sphingomyelin/lecithin ratio in plasma (17.2 +/- 2.4 vs. 29.1 +/- 3.3) suggesting that sphingomyelin and lecithin are not freely exchangeable between plasma and the outer surface of RBC membranes.