Isolated Congenital Asplenia in an Asymptomatic Patient: A Very Rare Diagnosis
  • Sofia Dinis Ferreira
    Medicina Intensiva, Hospital Central do Funchal, SESARAM, Funchal, Madeira, Portugal http://orcid.org/0000-0002-8862-607X
  • Cláudia Lemos
    Medicina Intensiva, Hospital Central do Funchal, SESARAM, Funchal, Madeira, Portugal
  • Mónica Caldeira
    Medicina Interna, Hospital Central do Funchal, SESARAM, Funchal, Madeira, Portugal
  • Miguel Homem da Costa
    Medicina Interna, Hospital Central do Funchal, SESARAM, Funchal, Madeira, Portugal
  • Maria Luz Brazão
    Medicina Interna, Hospital Central do Funchal, SESARAM, Funchal, Madeira, Portugal
  • Fernando Aveiro
    Hematologia Clínica, Hospital Central do Funchal, SESARAM, Funchal, Madeira, Portugal

Keywords

Isolated congenital asplenia, hyposplenism, sepsis

Abstract

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.

VIEW THE ENTIRE ARTICLE

References

  • Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CL, Tornilhac O, et al. Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr 2011;158(1):142–148.

  • William BM, Corazza G. Hyposplenism: a comprehensive review. Part I: Basic concepts and causes. Hematology 2007;12(1):1–13.

  • Thiruppathy K, Privitera A, Jain K, Gupta S. Congenital asplenia and group B streptococcus sepsis in the adult: case report and review of the literature. FEMS Immunol Med Microbiol 2008;53(3):437–439.

  • Iijima S. Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review. BMC Infect Dis 2017;17:777.

  • Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, et al. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. PNAS 2018;115(34):e8007–e8016.
  • Views: 1199
    HTML downloads: 164
    PDF downloads: 575


    Published: 2020-02-28
    Issue: 2020: Vol 7 No 4 (view)


    How to cite:
    1.
    Ferreira SD, Lemos C, Caldeira M, Homem da Costa M, Brazão ML, Aveiro F. Isolated Congenital Asplenia in an Asymptomatic Patient: A Very Rare Diagnosis. EJCRIM 2020;7 doi:10.12890/2020_001429.

    Most read articles by the same author(s)