McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L), lactate dehydrogenase (624 U/L), and myoglobulin (671 ng/mL). A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later.
O surgimento do vírus da síndrome respiratória aguda grave – coronavírus 2, responsável pela doença COVID-19, conduziu a um rápido desenvolvimento de métodos moleculares e serológicos para o seu diagnóstico. Apesar de o teste molecular de amostras do trato respiratório ser o teste de diagnóstico standard, verifica-se um interesse crescente pelo uso de exames serológicos, mas existe, ainda, evidência limitada sobre os mesmos. Os autores apresentam dois casos clínicos em que traduzem algumas das vantagens da utilização do teste serológico como complementar no diagnóstico da infeção pelo vírus da síndrome respiratória aguda grave – coronavírus 2, nomeadamente nos casos ativos de COVID-19, que apresentam teste molecular inicial negativo.
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