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BMJ Case Reports 2012; doi:10.1136/bcr-2012-006451
  • Rare disease

Neonatal stroke associated with de novo antiphospholipid antibody and homozygous 1298C/C methylenetetrahydrofolate reductase mutation

  1. Rui Vasconcellos1
  1. 1Department of Paediatrics, Paediatric Neurology Unit, Hospital Central do Funchal, Funchal, Portugal
  2. 2Department of Reumatology, Hospital Central do Funchal, Funchal, Portugal
  1. Correspondence to Dr Paulo Rego Sousa, pauloregodesousa{at}portugalmail.pt

Summary

Antiphospholipid antibodies are a recognised prothrombotic risk factor associated with acute ischaemic infarction. Most autoimmune diseases are rare in infants, and in the neonatal period, autoimmunity is related to transplacental passage of maternal immunoglobulin G autoantibodies. Distinguishing between de novo and acquired autoimmunity has important therapeutic implications and is crucial for determining the prognosis. We present a case of a neonatal thrombotic stroke associated with de novo synthesis of antiphospholipid antibodies, a homozygous 1298C/C methylene-tetrahydrofolate reductase mutation and a double-homozygous plasminogen activator inhibitor 1 polymorphism (PAI-1 844A/A and 675 4G/4G), which may have increased the final thrombotic risk. Her mother was not positive for antiphospholipid antibodies. The authors highlight an unequivocal evidence of a de novo case of paediatric antiphospholipid antibody syndrome and emphasise the need for a thorough investigation in cases of neonatal stroke including molecular thrombophilia study.

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