A case of McLeod syndrome with unusually severe myopathy

A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, a nd areflexia in all the extremities, acanthocytosis and an elevated serum c reatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a defini te diagnosis of McLeod syndrome for his condition. Brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Althoug h immunocytochemical analysis of dystrophin in muscle specimens from our pa tient revealed normal staining, we found prominent fiber size variability, central nuclei, and connective tissue proliferation as well as necrotic and regenerating fibers, which are as a whole compatible with the myopathology of muscular dystrophy. Moreover, muscle computerized tomography of the low er extremities revealed the 'selectivity pattern' characteristically report ed in muscular dystrophies including Duchenne type muscular dystrophy. The muscular symptoms and pathology in McLeod syndrome have been reported to be mild, but the present case clearly shows that the muscular features in thi s condition may be much mon severe than previously thought. (C) 1999 Publis hed by Elsevier Science B.V. All rights reserved.