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

Sousa, Paulo Rego; Figueira, Ricardo; Vasconcellos, Rui

doi:10.1136/bcr-2012-006451

Cited by 8 publications

(6 citation statements)

References 10 publications

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“…At the present time, it is still unclear whether outcomes for de novo and transmitted neonatal APS are different, and whether the de novo APS may precede other autoimmune diseases, such as systemic lupus erythematosus (26)(27)(28)(29)(30)(31)(32)(33)(34).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Infantile Ischemic Stroke and Antiphospholipid Antibodies, Description of Four Cases

et al. 2020

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Antiphospholipid syndrome (APS) is a rare condition in childhood, but even more in the neonatal age. Most neonatal cases are considered a passively acquired autoimmune disease, due to a transplacental passage of maternal antiphospholipid antibodies (aPL) from mothers with primary or secondary APS or, more often, from asymptomatic aPL carriers. Exceedingly unusual is the neonatal de novo production of aPL. We present four infants with presumed perinatal stroke in presence of increased and persistent aPL levels, even after 6 months of life, opening the window on a gray zone related to the origin of these antibodies (maternal or neonatal) and on their role in the pathogenesis of stroke.

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Section: Discussionmentioning

confidence: 99%

Case Report: Infantile Ischemic Stroke and Antiphospholipid Antibodies, Description of Four Cases

et al. 2020

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“…37 The reports on the existence of de novo LAC in neonates with perinatal stroke and no other prothrombotic risk factors denoted the role of LAC. 13,36,38 Although limited, the data on the implication of LAC in perinatal stroke is contradictory. Therefore, re-testing after 12 weeks is important to specify whether LAC had a true contributory role.…”

Section: Antiphospholipid Antibodies and Cerebral Thrombosismentioning

confidence: 99%

“…Therefore, re-testing after 12 weeks is important to specify whether LAC had a true contributory role. Since monoparesis persisted upon follow-up in one case where LAC was confirmed positive, 13 it would be essential to study the relationship of persistent LAC positivity with neurological outcomes after perinatal strokes.…”

Section: Antiphospholipid Antibodies and Cerebral Thrombosismentioning

confidence: 99%

“…3,10,11 As in adults, the presence of aPL can act as a risk factor for cerebral ischemia in children. 12–16 For example, 25% of children with acute stroke and no previous head injury or CNS infection tested positive for aPL. 17 In addition, it has been reported that aPL positive children have more than a 6-fold risk of stroke compared with healthy children.…”

Section: Introductionmentioning

confidence: 99%

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Antiphospholipid antibodies and cerebrovascular thrombosis in the pediatric population: Few answers to many questions

Hasbani

Taher

Sunji

et al. 2021

Lupus

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Most of the knowledge in pediatric antiphospholipid syndrome (APS) is derived from studies performed on the adult population. As in adults, antiphospholipid antibodies (aPL) can contribute to thrombosis, especially cerebrovascular thrombosis, in neonates and children. Since aPL have the potential to cross the placental barrier, and since the pediatric population is prone to infections, re-testing for their positivity is essential to specify their role in cerebrovascular thrombosis. In this review, we aimed at assessing the prevalence of aPL, criteria or non-criteria, in neonatal and childhood ischemic stroke and sinovenous thrombosis trying to find an association between aPL and cerebrovascular thrombosis in the neonatal and pediatric population. Also, we looked into the effect of aPL and anticoagulants/antiplatelets on the long term neurological outcomes of affected neonates or children. The questions regarding the prevalence of aPL among pediatric patients with cerebrovascular thrombosis, the relationship between the titers of aPL and incidence and recurrence of cerebrovascular events, the predictability of the long term neurological outcomes, and the most optimal anticoagulation plan are still to be answered. However, it is crucial for clinicians to screen neonates and children with cerebrovascular thrombosis for aPL and confirm their presence if positive.

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“…De-novo production of aPL antibodies in a neonate has been previously reported in a handful of cases. 2,3 However, the occurrence of thrombosis in these settings is extremely rare. A review has described only 21 cases of neonatal thrombosis in association with aPL antibodies.…”

Section: Introductionmentioning

confidence: 99%

Portal vein thrombosis, livedo reticularis, polymicrobial sepsis and high antiphospholipid antibody titers in a newborn: A clinicopathological conference of antiphospholipid-associated neonatal syndrome

Chaudhary

Jindal

Vignesh

et al. 2020

Lupus

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Neonatal Antiphospholipid syndrome (APS) is a rare disease related to transplacental passage of antiphospholipid (aPL) antibodies from the mother or de novo production of aPL in a newborn. Neonatal aPL antibodies have rarely been associated with thrombosis. We describe a 5-week-old infant who developed fever, portal vein thrombosis and livedo reticularis like skin rash. Evaluation for thrombosis revealed high titers of antiphospholipid (aPL) antibodies (dual positive) in the child without any evidence of aPL antibodies in the mother, suggesting a de novo production in the child. Autopsy findings revealed umbilical vein sepsis with thrombosis of portal vein secondary to gram positive cocci which led to multiple liver and lung abscesses. Additionally, the baby had disseminated Cytomegalovirus (CMV) disease (acquired postnatally) involving walls of umbilical and portal vein, liver, lungs, adrenals, pancreas, thymus, and kidneys. Our case highlights the need for testing of aPL in every neonate with arterial or venous thrombosis even when the mother may have no features suggestive of an autoimmune disease.

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

Cited by 8 publications

References 10 publications

Case Report: Infantile Ischemic Stroke and Antiphospholipid Antibodies, Description of Four Cases

Case Report: Infantile Ischemic Stroke and Antiphospholipid Antibodies, Description of Four Cases

Antiphospholipid antibodies and cerebrovascular thrombosis in the pediatric population: Few answers to many questions

Portal vein thrombosis, livedo reticularis, polymicrobial sepsis and high antiphospholipid antibody titers in a newborn: A clinicopathological conference of antiphospholipid-associated neonatal syndrome

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