Asymptomatic hyper-CK-emia and thrombocytopenia as initial symptoms of McArdle's disease

Arantxa Mosquera Gorostidi^a, Elena Delgado Fuentes^b, Sergio Aguilera Albesa^c, Petri María Eugenia Yoldi^d

^aPediatra. Servicio Navarro de Salud. Osasunbidea. Pamplona. Navarra. España.
^bPediatra. CS Carabanchel Alto. Madrid. España.
^cServicio de Neuropediatría. Complejo Hospitalario de Navarra. Pamplona. Navarra. España.
^dServicio de Neuropediatría. Complejo Hospitalario de Navarra. . Pamplona. Navarra. España.

Reference of this article: Mosquera Gorostidi A, Delgado Fuentes E, Aguilera Albesa S, María Eugenia Yoldi YP. Asymptomatic hyper-CK-emia and thrombocytopenia as initial symptoms of McArdle's disease. Rev Pediatr Aten Primaria. 2016;70:171-3.

Published in Internet: 29-04-2016 - Visits: 15955

Abstract

McArdle disease is a metabolic and genetic disease due to a deficiency of an enzyme responsible for the glycogen metabolism. We report the case of a patient of a 14-year-old patient, who showed blood tests alterations preceding the clinical symptomatology.

Keywords

● Asthenia ● CPK ● Glycogen ● McArdle disease ● Metabolic disease

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