Abstract
Although cerebral sinovenous thrombosis (CSVT) is a rare condition in the neonatal period, high rates of morbidity and mortality necessitate the establishment of an early diagnosis. Methylenetetrahydrofolate reductase (MTHFR) plays a central role in the folate cycle and mutations of MTHFR are associated with vascular disease. While the C677T common missense mutation is the most well-defined MTHFR polymorphism, another common missense mutation, A1298C also exists. There has been no reported case of CSVT associated with MTHFR A1298C mutation in the neonatal period. Herein, we report a neonate with CSVT who was found to have MTHFR A1298C homozygosity.
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Acknowledgments
The authors would like to thank Dr. Elif Ayşe Çizmeci for her sincere contributions in translation of the patient’s medical documents.
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The authors declare that they have no conflict of interest.
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For this type of case report, no ethical permission is required in Turkey. Informed consent was taken from the parents for the publication of the case report.
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Cizmeci, M.N., Kanburoglu, M.K., Akelma, A.Z. et al. Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: a case report. J Thromb Thrombolysis 35, 279–281 (2013). https://doi.org/10.1007/s11239-012-0776-9
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DOI: https://doi.org/10.1007/s11239-012-0776-9