Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others

Abstract

in the case of Streptococcus pneumoniae sepsis, a systematic search for Howell-Jolly bodies on blood smears and ultrasound examination of the abdomen for the presence of asplenia should be mandatory to detect isolated congenital asplenia. If asplenia is found, potentially life-saving antibiotic prophylaxis and pneumococcal vaccination should be initiated.

Epidemiology, Etiology, Pathogenesis, and Diagnosis of Recurrent Bacterial Meningitis

“…Congenital asplenia occurs mainly in the context of Ivemark syndrome (also referred to as asplenia syndrome), which consists of congenital heart disease, complex thoracoabdominal heterotaxia, and asplenia (27). However, rare cases of isolated congenital asplenia have also been described and have been associated with recurrent pneumococcal meningitis on three reported occasions (62).…”

Immunity to Microbes: Lessons from Primary Immunodeficiencies

“…Overwhelming systemic S. pneumoniae infections are the main clinical manifestations of congenital asplenia, as is also true when it is associated with other defects (such as Ivemark syndrome) (48,99). Life-threatening H. influenzae infections have also been observed in patients with congenital asplenia (48).…”

“…Life-threatening H. influenzae infections have also been observed in patients with congenital asplenia (48).…”

Trombositozu olan bir yaşında erkek çocuk

“…Congenital splenic anomalies can be associated with other organ anomalies especially cardiac anomalies or can be present alone (Ivemark syndrome) (5). Solitary asplenia is generally recognized after a severe, fulminant and fatal infection (6). In the absence of the spleen, the risk of fulminant infection with bacteriae with capsules including Streptococcus pneumonia, Hemophilus influenza and Neissseria meningitis increases.…”