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

Rego Sousa, P.; Figueira, R.; Vasconcellos, R.

http://hdl.handle.net/10400.26/34671

Use this identifier to reference this record.

Name:	Description:	Size:	Format:
Neonatal stroke associated with de novo antiphospholipid.pdf		138.32 KB	Adobe PDF	Download

Send Feedback

Authors

Rego Sousa, P.

Figueira, R.

Vasconcellos, R.

Abstract(s)

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.

Keywords

Antibodies, Antiphospholipid Antiphospholipid Syndrome Brain Ischemia Female Homozygote Humans Infant, Newborn Methylenetetrahydrofolate Reductase (NADPH2) Mutation Plasminogen Activator Inhibitor 1 Polymorphism, Genetic Stroke Madeira Island Região Autónoma da Madeira Portugal