Vol. 22 - Num. 88
aUnidad de Neuropediatría. Servicio de Pediatría. Hospital Universitario Miguel Servet. Zaragoza. España.
bServicio de Bioquímica Clínica. Sección de Genética Clínica. Hospital Universitario Miguel Servet. Zaragoza. España.
Correspondence: V Fernández. E-mail: email@example.com
Reference of this article: Fernández Ventureira V, Hernández Abadía R, Miramar Gallart MD, Monge Galindo L, López Pisón J, Peña Segura JL. Asymptomatic hyperCKemia in children. Central core disease with non-diagnostic muscle biopsy. Rev Pediatr Aten Primaria. 2020;22:e211-e215.
Published in Internet: 09-12-2020 - Visits: 381
Introduction: persistently elevated serum creatine kinase levels may lean the first manifestation of an underlying neuromuscular disease. Its appropriate approach allows an adequate early treatment, a genetic counselling and information concerning complications and prognosis.
Case description: our patient was an asymptomatic 7-year-old boy with persistent serum CK elevation. He had a normal physical examination. After a normal metabolic study, a specific genetic study for dystrophinopaties or other myopathies was requested. A variant of uncertain significance mutation [RYR1, c.9912C>A; p. (Cys3304*)] associated with central core disease (#MIM11700) was obtained. Before this genetic diagnosis the invasive testing was rejected.
Discussion: central core disease is the most frequent congenital neuromuscular disease. About 90% of cases are linked to RYR1 gene mutations. RYR1 protein is a part of macromolecular complex deputed to excitation-contraction coupling through Ca2+ channels. Its diagnosis is confirmed by histological examination. CCD is associated to malignant hyperthermia and rabdomiolisis susceptibility.
Keywords● Creatine phosphokinase ● Malignant hyperthermia ● Myopathy ● Rabdomiolisis
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