Abstract
McLeod syndrome is an X-linked multi-system disorder that is classified with the neuroacanthocytosis syndromes. It is caused by mutations of the XK gene encoding the XK protein, a membrane transport protein of yet unknown function. Hematologically, McLeod syndrome is characterized by an absent Kx erythrocyte antigen, weak expression of Kell antigens, acanthocytosis, and compensated hemolysis. Asymptomatic male McLeod carriers have elevated serum creatine kinase levels, and are prone to develop neurological symptoms at a mean onset ranging from 30 to 40 years. Neuromuscular manifestations include myopathy, sensory-motor axonal neuropathy, and cardiomyopathy. Central nervous system manifestations resemble Huntington’s disease, with a choreatic movement disorder, subcortical cognitive deficits, psychiatric abnormalities, and generalized seizures.
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