School of Medicine

Perinatal stroke is a focal cerebrovascular event occurring during fetal or neonatal life before 28 days after birth that occurs in approximately 1 out of every 2,500 term births. Perinatal stroke is associated with lifelong morbidity, but because the developing brain is capable of tremendous plasticity, developmental outcomes can vary greatly among patients. While some pro-thrombotic conditions have been implicated as risk factors for early ischemic events, there is less data about the impact these genetic factors have on developmental outcomes. One particularly interesting pro-thrombotic trait is the methylenetetrahydrofolate reductase (MTHFR) gene with polymorphisms at nucleotides 677 and 1298, which lead to increased serum homocysteine levels and has been shown to potentially increase the risk of a number of cardiovascular diseases, including ischemic stroke. To explore the potential association between MTHFR mutations and outcomes of perinatal stroke, 13 children with perinatal stroke were categorized into three genotype groups based on the presence of C677T and A1298C mutations in MTHFR which were correlated with neurodevelopmental outcomes. There was no significant increased allele frequency or genotype frequency of MTHFR in perinatal stroke subjects compared to the general population. Given the small sample size, no significant difference in lesion size or language and cognitive outcomes among the genotype groups could be detected however, there was a trend toward worse outcomes with increasing mutant MTHFR polymorphisms which may warrant further study.