scholarly journals Familial isolated congenital asplenia

2020 ◽  
Author(s):  
Keyword(s):  
Isolated Congenital Asplenia

A Rare Case of Isolated Congenital Asplenia Presenting in Septic Shock: Howell-Jolly Bodies a Clue to Early Diagnosis

2017 ◽  
Vol 57 (5) ◽  
pp. 597-599
Author(s):  
Pradeep Bangalore Prakash ◽  
Sook-Kyung C. Kwon ◽  
Aditya Badheka ◽  
Veerajalandhar Allareddy
Keyword(s):  
Septic Shock ◽  
Early Diagnosis ◽  
Rare Case ◽  
Isolated Congenital Asplenia

scholarly journals Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

Science ◽  
2013 ◽  
Vol 340 (6135) ◽  
pp. 976-978 ◽  
Author(s):  
A. Bolze ◽  
N. Mahlaoui ◽  
M. Byun ◽  
B. Turner ◽  
N. Trede ◽  
...  
Keyword(s):  
Ribosomal Protein ◽  
Isolated Congenital Asplenia

scholarly journals RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus

Development ◽  
2018 ◽  
Vol 145 (20) ◽  
pp. dev166181 ◽  
Author(s):  
John N. Griffin ◽  
Samuel B. Sondalle ◽  
Andrew Robson ◽  
Emily K. Mis ◽  
Gerald Griffin ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Rrna Processing ◽  
Isolated Congenital Asplenia

scholarly journals Isolated Congenital Asplenia in an Asymptomatic Patient: A Very Rare Diagnosis

2020 ◽  
Author(s):  
Sofia Dinis Ferreira ◽  
Cláudia Lemos ◽  
Mónica Caldeira ◽  
Miguel Homem da Costa ◽  
Maria Luz Brazão ◽  
...  
Keyword(s):  
Asymptomatic Patient ◽  
Rare Condition ◽  
Blood Analysis ◽  
Early Years ◽  
Invasive Infections ◽  
History Of ◽  
Isolated Congenital Asplenia ◽  
Systemic Infections ◽  
Rare Diagnosis ◽  
Increased Susceptibility

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.

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