High prevalence of inherited thrombophilia in 'presumed peri-neonatal' ischemic stroke

Abstract

The aim of this study was to assess the prevalence of inherited thrombophilia in 'peri-neonatal arterial ischemic stroke' (AIS), and its possible correlation with type of stroke and long-term neurological outcome. A cohort of twenty-four infants affected by AIS were analysed for risk factors, clinical and neuroradiological features, coagulation and thrombophilia profile and outcome. Two subgroups were considered, based on clinical presentation: infants symptomatic in the neonatal period, acute AIS (aAIS) and those with a delayed presentation (presumed peri-neonatal onset, pAIS). The mean follow-up on patients was 3 yr and 1 month (range 1-15 yr). Inherited thrombophilia, consisting of factor V Leiden and prothrombin G20210A mutations, protein C and/or protein S deficiencies, was detected in 28.6%. A significantly higher prevalence of inherited thrombophilia was observed in infants with pAIS compared with aAIS (Fisher's exact test, P = 0.011). Infants with pAIS had a significantly worse neurological outcome with respect to aAIS (Fisher's exact test, P = 0.014). Inherited thrombophilia was significantly higher in patients with a poor neurological outcome (Fisher's exact test P = 0.002). Although the clinical presentation (aAIS vs. pAIS) was associated with future neurological disabilities, it is the thrombophilia but not the clinical presentation, which remains the only significant prognostic factor in the logistic regression analysis. Although preliminary, these data suggest an association of unfavourable neurological outcome and inherited prothrombotic defects in neonatal AIS. The higher prevalence of inherited thrombophilia identified in pAIS and the worse neurological outcome encourage further investigations in population-based studies.