Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors

Turk J Pediatr. 2017;59(1):71-75. doi: 10.24953/turkjped.2017.01.012.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Heparin, Low-Molecular-Weight / therapeutic use
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Plasminogen Activator Inhibitor 1 / genetics*
  • Polymorphism, Genetic
  • Risk Factors
  • Sinus Thrombosis, Intracranial / drug therapy
  • Sinus Thrombosis, Intracranial / etiology
  • Sinus Thrombosis, Intracranial / genetics*

Substances

  • Heparin, Low-Molecular-Weight
  • Plasminogen Activator Inhibitor 1
  • SERPINE1 protein, human
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)