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Journal of Child Neurology, Vol. 15, No. 2, 137-138 (2000)
DOI: 10.1177/088307380001500216

HyperCKemia as the Only Sign of McArdle's Disease in a Child

Claudio Bruno, MD

Department of Neurology Columbia University New York, Department of Pediatrics Istituto Giannina Gaslini Universitá di Genova Genoa, Italy

Enrico Bertini, MD

Department of Molecular Medicine Ospedale Bambin Gesú Rome, Italy

Filippo M. Santorelli, MD

Department of Molecular Medicine Ospedale Bambin Gesú Rome, Italy

Salvatore DiMauro, MD

Department of Neurology Columbia University New York, New York, sdl2{at}columbia.edu

An asymptomatic 13-year-old boy, who never complained of exercise intolerance or myalgia, was found to have markedly elevated serum creatine kinase (CK) levels during a routine check-up. General physical and neurologic examinations were normal. Surprisingly, histochemical and biochemical analysis of muscle showed myophosphorylase deficiency and genetic analysis showed that the patient was homozygous for the most common mutation encountered in McArdle's disease (R49X). This case illustrates the fuzzy correlation between molecular defect and clinical phenotype in patients with McArdle's disease, and suggests that a thorough study of the muscle biopsy is important in patients with idiopathic hyperCKemia for correct diagnosis and careful follow-up. (J Child Neurol 2000;15:137-138).


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