The Turkish Journal of Pediatrics
2017 , Vol 59 , Num 1
Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors
1 Divisions of Neonatology, Baskent University Faculty of Medicine, Ankara, Turkey2 Divisions of Pediatric Hematology, Baskent University Faculty of Medicine, Ankara, Turkey
3 Divisions of Pediatric Neurology, Baskent University Faculty of Medicine, Ankara, Turkey
4 Divisions of Pediatric Nephrology, Baskent University Faculty of Medicine, Ankara, Turkey
5 Department of Medical Genetics, Baskent University Faculty of Medicine, Ankara, Turkey DOI : 10.24953/turkjped.2017.01.012 Turan Ö, Anuk-İnce D, Olcay L, Sezer T, Gülleroğlu K, Yılmaz-Çelik Z, Ecevit A. Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors. Turk J Pediatr 2017; 59: 71-75.
Cerebral sinovenous thrombosis (CSVT) is a rare disease in the neonatal period and also the greatest risk of neonatal mortality and morbidity. In this report, we presented two cases with CSVT and different risk factors. One of these cases had methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism and the other case had both MTHFR A1298C homozygous polymorphism, plasminogen activator inhibitor-1 (PAI-1) 4G/ 5G polymorphism and elevated lipoprotein a. Early diagnosis and prompt initiation of therapy of neonatal CSVT may prevent neonatal mortality and poor long-term neurodevelopmental outcomes.
Keywords : anticoagulation, cerebral sinovenous thrombosis, newborn