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

Abstract

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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References

DiMauro S. , Tsujino S. : Nonlysosomal glycogenoses, in Engel AG , Franzini-Armstrong C (eds): Myology, 2nd ed, vol 2. New York, McGraw-Hill, 1994, pp 1554-1576.

Brumback RA , Feeback DL , Leech RW : Rhabdomyolysis in childhood. A primer on normal muscle function and selected myopathies characterized by disordered energy production. Pediatr Clin North Am 1992;39:821-858.

Tsujino S. , Shanske S. , DiMauro S. : Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993;329:241-245.

DiMauro S. , Bruno C. : Glycogen storage diseases of muscle. Curr Opin Neurol 1998;11:477-484.

DiMauro S. , Hartwig GB , Hays AP , et al: Debrancher deficiency: Neuromuscular disorder in five adults . Ann Neurol 1979;5:422-436.

Vorgerd M. , Kubish C. , Burwinkel B. , et al: Mutation analysis in myophosphorylase deficiency (McArdle's disease). Ann Neurol 1998;43:326-331.

Nevins MA , Sara M. , Bright M. , Lyon LJ : Pitfalls in interpreting serum creatine phosphokinase activity. JAMA 1973;224:1382-1387.

Schneider J. , Muhfellner G. , Kaffarnik H: Creatine kinase in hyperlipoproteinemic patients treated with clofibrate. Artery 1980;8:164-170.

Klein I. , Lewey GS : Unusual manifestations of hypothyroidism. Arch Intern Med 1984;144:123-128.

10.

Shane E. , McClane KA , Olarte M. , Bilezikian JP : Hypoparathyroidism and elevated muscle enzymes. Neurology 1984;34:544-547.

11.

Brewster LM , de Visser M: Persistent hyperCKemia: Fourteen patients studied in retrospect. Acta Neurol Scand 1988;77:60-63.

12.

Rowland LP , Willner J. , Cerri C. , et al: Approaches to the membrane theory of Duchenne muscular dystrophy , in Angelini C, Danieli GA, Fontanari D (eds): Muscular Dystrophy Research: Advances and New Trends. Amsterdam, Excerpta Medica, 1980, pp 3-13.

13.

Sunohara N. , Takagi A. , Nonaka I. , et al: Idiopathic hyperCKemia . Neurology 1984;34:544-577.

14.

Galassi G. , Rowland LP , Hays AP , et al: High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy. Muscle Nerve 1987;10:346-350.

15.

Joy JL , Oh SJ : Asymptomatic hyper-CK-emia: An electrophysiologic and histopathologic study . Muscle Nerve 1989;12:206-209.

16.

Tachi N. , Wakai S. , Yutoh Y. , et al: Asymptomatic hyperCKemia: Detection of an isolated carrier of Duchenne muscular dystrophy. J Child Neurol 1990;5:351-353.

17.

Lingaraju N. , Rosenberg H. : Unexplained increases in serum creatine kinase levels: Its relation to malignant hyperthermia susceptibility . Anesth Analg 1991;72:702-705.

18.

Frydman M. , Straussberg R. , Shomrat R. , et al: Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. Am J Med Genet 1995;58:209-212.

19.

Weglinski MR , Wedel DJ , Engel AG : Malignant hyperthermia testing in patients with persistently increased serum creatine kinase levels . Anesth Analg 1997;84:1038-1041.

20.

Afifi AK : Idiopathic hyperCKemia revisited, editorial. J Child Neurol 1998;13:251-252.

21.

Gospe SM , El-Schahawi M. , Shanske S. , et al: Asymptomatic McArdle's disease associated with hyperCKemia and absence of myophosphorylase. Neurology 1998 ;51:1228-1229.