title: A case of McLeod syndrome with unusually severe myopathy.
abstract: 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, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a definite diagnosis of McLeod syndrome for his condition. Brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Although immunocytochemical analysis of dystrophin in muscle specimens from our patient 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 lower extremities revealed the 'selectivity pattern' characteristically reported 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 this condition may be much more severe than previously thought.
authors.affiliation: Department of Neurology, Jichi Medical School, Tochigi, Japan. jms79023@jichi .ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Kawakami
authors.forename: Y
authors.initials: Y
authors.lastname: Takiyama
authors.forename: K
authors.initials: K
authors.lastname: Sakoe
authors.forename: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: T
authors.initials: T
authors.lastname: Yoshioka
authors.forename: M
authors.initials: M
authors.lastname: Nishizawa
authors.forename: M E
authors.initials: ME
authors.lastname: Reid
authors.forename: O
authors.initials: O
authors.lastname: Kobayashi
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: I
authors.initials: I
authors.lastname: Nakano
mesh_terms: D000050:Acanthocytes / Q000473:pathology*; D001284:Atrophy; D002819:Chorea / Q000473:pathology* / Q000503:physiopathology; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007626:Kell Blood-Group System / Q000276:immunology; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis; D009468:Neuromuscular Diseases / Q000473:pathology* / Q000503:physiopathology; D013577:Syndrome; D014960:X Chromosome
chemical_list: D007626:Kell Blood-Group System; D003402:Creatine Kinase