asplenia

Synopsis

 recurrent invasive bacterial infections
 Howell-Jolly bodies in the blood smear
 relative with congenital isolated asplenia.

Etiology

 isolated asplenia

• isolated congenital asplenia
• vanishing spleen and hyposplenism

 syndromic asplenia

• asplenia with situs ambiguus (heterotaxia)
  • asplenia/polysplenia syndrome (Ivemark syndrome) (MIM.208530)

• deleted ring chromosome 4 (8933346)

Associations

 cardiovascular malformations

• dextrocardia (11105625)
• transposition of the great vessels (TGV) (11105625)
• stenosis of the pulmonary artery (11105625)
• common atrioventricular canal (CAVC) (11105625)
• patent ductus arteriosus (11105625)

 situs anomalies (heterotaxy)
 renal dysplasia

• cystic dilated collecting ducts of the kidney (11105625)

 cystic dilated collecting ducts of the kidney (11105625)

 hepatopancreaticorenal dysplasia

• Crawfurd syndrome (hepatopancreaticorenal dysplasia with asplenia)