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Dinis-Ferreira, Sofia

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  • Isolated Congenital Asplenia in an Asymptomatic Patient: A Very Rare Diagnosis
    Publication . Dinis-Ferreira, Sofia; Lemos, Cláudia; Caldeira, Mónica; Homem-Costa, Miguel; da Luz Brazão, Maria; Aveiro, Fernando
    Isolated congenital asplenia is a rare condition that mostly manifests in the early years, usually due to fatal systemic infections. In this paper, however, we present a case of a 36-year-old asymptomatic patient who was referred for suspected hyposplenism, with no history of splenectomy. There were no significant changes on physical examination. Blood analysis revealed leukocytosis and thrombocytosis as well as moderate anisopoikilocytosis and red blood cells with Howell-Jolly bodies. No spleen or other malformations were identified on imaging. Individuals with isolated congenital asplenia have an increased susceptibility to invasive infections and sepsis, with rapid clinical decline and a high mortality rate despite treatment.