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Neurogenetics

Elevation of muscle creatine kinase can be the initial finding in various neuromuscular disorders. McLeod syndrome is a rarely considered alternative for the unsatisfactory diagnosis of "idiopathic hyperCKemia".
Three patients from two different families are presented. Case RH (27 years) underwent diagnosis because of slight generalized weakness. Clinical examination showed pseudohypertrophia of the calves and areflexia. Creatine kinase was 300-400 U/l. A peripheral blood smear showed 5% acanthocytes. McLeod syndrome was confirmed by immunohematology. Muscle biopsy revealed neurogenic and myopathic abnormalities with a dystrophinopathy not described in McLeod syndrome so far. Genetic sequence analysis is in progress. Two brothers with McLeod syndrome, due to deletion of XK (now 53 and 54 years), had been followed up for several years. Findings not observed in RH are: progressive biopsy-proven dilative cardiomyopathy, grand mal seizures, psychotic episodes, cognitive impairment and chorea as the most prominent sign.
In conclusion, McLeod syndrome should be considered in patients presenting with CK elevation, slight myopathic or neuropathic signs, choreatic symptoms or cardiomyopathy. Pathognomonic is the variant erythrocyte Kell phenotype "McLeod". Definite diagnosis is also possible from genetic sequence analysis. Absence of the XK gene product, a novel membrane protein related to neurotransmitter transporters, causes this possibly underdiagnosed syndrome.


Headings
McLeod neuroacanthocytosis

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