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Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy

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Detalhes bibliográficos
Resumo:ABSTRACT Homocystinuria is a treatable autosomal recessive inherited disorder. This condition may cause life-threatening complications such as thromboembolic events. Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolic events. Here, we report a case of late diagnosis of homocystinuria presenting with deep venous thrombosis and COVID-19. This study highlights a sustained high index of suspicion for homocystinuria to prevent severe thromboembolic complications.
Autores principais:Yakut,Nurhayat
Outros Autores:Tuzun,Behzat; Ergun,Nurcan Ucuncu
Assunto:Homocystinuria COVID-19 Thrombosis
Ano:2022
País:Brasil
Tipo de documento:relatório
Tipo de acesso:acesso aberto
Instituição associada:IBICT
Idioma:inglês
Origem:Oasisbr
Descrição
Resumo:ABSTRACT Homocystinuria is a treatable autosomal recessive inherited disorder. This condition may cause life-threatening complications such as thromboembolic events. Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolic events. Here, we report a case of late diagnosis of homocystinuria presenting with deep venous thrombosis and COVID-19. This study highlights a sustained high index of suspicion for homocystinuria to prevent severe thromboembolic complications.

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