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

2012Journal article Open access
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dc.contributor.authorRego Sousa, P.
dc.contributor.authorFigueira, R.
dc.contributor.authorVasconcellos, R.
dc.date.accessioned2021-01-12T16:11:35Z
dc.date.available2021-01-12T16:11:35Z
dc.date.issued2012
dc.description.abstractAntiphospholipid 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1136/bcr-2012-006451pt_PT
dc.identifier.issn1757-790X
dc.identifier.urihttp://hdl.handle.net/10400.26/34671
dc.language.isoengpt_PT
dc.publisherBMJpt_PT
dc.subjectAntibodies, Antiphospholipidpt_PT
dc.subjectAntiphospholipid Syndromept_PT
dc.subjectBrain Ischemiapt_PT
dc.subjectFemalept_PT
dc.subjectHomozygotept_PT
dc.subjectHumanspt_PT
dc.subjectInfant, Newbornpt_PT
dc.subjectMethylenetetrahydrofolate Reductase (NADPH2)pt_PT
dc.subjectMutationpt_PT
dc.subjectPlasminogen Activator Inhibitor 1pt_PT
dc.subjectPolymorphism, Geneticpt_PT
dc.subjectStrokept_PT
dc.subjectMadeira Islandpt_PT
dc.subjectRegião Autónoma da Madeirapt_PT
dc.subjectPortugalpt_PT
dc.titleNeonatal stroke associated with de novo antiphospholipid antibody and homozygous 1298C/C methylenetetrahydrofolate reductase mutationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPagebcr2012006451pt_PT
oaire.citation.issuenov14 2pt_PT
oaire.citation.startPagebcr2012006451pt_PT
oaire.citation.titleCase Reportspt_PT
oaire.citation.volume2012pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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