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Vol. 18 - Num. 70

Clinical Reviews

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

Arantxa Mosquera Gorostidia, Elena Delgado Fuentesb, Sergio Aguilera Albesac, Petri María Eugenia Yoldid

aServicio de Pediatría. Complejo Hospitalario de Navarra. Pamplona. 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

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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