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MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations

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Abstract

Background

Stroke in pediatric age is a rare event with a multifactorial genesis which could involve genetic factors as methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism. At the same time, twin gestation with co-twin demise is an important potential risk factor for premature brain damage.

Patients and methods

We describe two children presenting with presumed cerebral stroke born from two MC twin pregnancies in which the other co-twin had died in utero associated to maternal and fetal homozygosity for MTHFR C677T and MTHFR A1298C, respectively. Brain damage was diagnosed immediately before the delivery.

Conclusion

Our observations underline the necessity to make a thrombophilia workup in women before or during pregnancy and, above all, in twin pregnancy. Data of literature are not clear about what kind of genetic polymorphism is prominent in the genesis of cerebral stroke (factor V leiden, MTHFR, activated protein C resistance, factor II G20210A). A multifactorial genesis for severe fetal and perinatal cerebral vascular alterations has been supposed; for this reason an early folate supplementation both to mother and infant could reduce the risk of brain damage due to fetal/perinatal stroke and eventual recurrence of thrombotic events.

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Acknowledgement

We want to thank Carla Arpino for everything she has done, with passion and dedication, for children and for our unit.

Conflict of interest

The authors declare that they have no conflict of interest.

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Correspondence to Paolo Curatolo.

Additional information

Carla Arpino: deceased

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Arpino, C., Compagnone, E., Cacciatore, D. et al. MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations. Childs Nerv Syst 27, 665–669 (2011). https://doi.org/10.1007/s00381-010-1340-6

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  • DOI: https://doi.org/10.1007/s00381-010-1340-6

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