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

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.

Paediatric acute basilar thrombosis successfully treated with intravenous alteplase.

Acute ischaemic stroke has significant attendant morbidity and is one of the top ten causes of childhood death. It requires prompt investigation and management, however little is known about the safety and efficacy of acute thrombolytic therapies in childhood arterial ischaemic stroke. The authors report a case of a 13-year-old girl with an acute basilar thrombosis, successfully treated with intravenous recombinant tissue plasminogen activator and discuss the management of paediatric arterial ischaemic stroke.