Catastrophic antiphospholipid syndrome: first signs in the neonatal period

• DOI: 10.1007/s00431-011-1548-9
• Publication Date: 2011-08-17T15:32:26Z
• Authors: Marta Cabral; Clara Abadesso; Marta Conde; Helena Almeida; Helena Carreiro
• Keywords: Catastrophic antiphospholipid syndrome; Lupus anticoagulant; Renal vein thrombosis; Stroke

The term "catastrophic" antiphospholipid syndrome (CAPS) is used to define a subset of the antiphospholipid syndrome (APS) characterized by the clinical evidence of three or more organ involvement by thrombotic events in a short period of time and with laboratory confirmation of the presence of antiphospholipid antibodies. We describe a male infant first admitted at 17 days old for necrotizing enteritis complicated by cardiac and renal failure. Because of progressive renal function deterioration, a renal biopsy was performed at 8 months old, and histopathologic examination was compatible with renal venous thrombosis. Laboratory searching for vascular, prothrombotic, and metabolic disease was negative. Five months later, he developed two different episodes (20-day range) of ischemic stroke. Genetic test for thrombophilic conditions was positive for two different mutations, and repeatedly high titers of lupus anticoagulant, anticardiolipin, and anti-β2glicoprotein I antibodies were found. He was treated successfully with anticoagulants and showed a favorable clinical evolution. To the best of our knowledge, this is the youngest patient reported with probable CAPS. Although rare, APS/CAPS in the neonatal period or in the first year of life must be suspected in infants presenting with thrombotic phenomena. The present case illustrates the importance of an early diagnosis and treatment to enhance possibilities of survival.