Vol. 22 - Num. 88
aServicio de Pediatría. Hospital Universitario Miguel Servet. Zaragoza. España.
bServicio de Bioquímica Clínica. Sección de Genética Clínica. Hospital Universitario Miguel Servet. Zaragoza. España.
cUnidad de Neuropediatría. Servicio de Pediatría. Hospital Universitario Miguel Servet. Zaragoza. España.
Correspondence: V Fernández. E-mail: firstname.lastname@example.org
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: 1763
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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