title: Neonatal stroke associated with de novo antiphospholipid antibody and homozygous 1298C/C methylenetetrahydrofolate reductase mutation.
abstract: 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.
authors.affiliation: Department of Paediatrics, Paediatric Neurology Unit, Hospital Central do Funchal, Funchal, Portugal. pauloregodesousa@portugalmail.pt
authors.forename: Paulo
authors.initials: P
authors.lastname: Rego Sousa
authors.forename: Ricardo
authors.initials: R
authors.lastname: Figueira
authors.forename: Rui
authors.initials: R
authors.lastname: Vasconcellos
mesh_terms: D017152:Antibodies, Antiphospholipid / Q000096:biosynthesis*; D016736:Antiphospholipid Syndrome / Q000097:blood / Q000150:complications*; D002545:Brain Ischemia / Q000209:etiology*; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D020521:Stroke / Q000209:etiology*
chemical_list: D017152:Antibodies, Antiphospholipid; D017395:Plasminogen Activator Inhibitor 1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)