Clinical examination showed pseudohypertrophia of the calves and areflexia. 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. In conclusion, McLeod syndrome should be considered in patients presenting with CK elevation, slight myopathic or neuropathic signs, choreatic symptoms or cardiomyopathy.
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. All rights reserved. Liability and Copyright .