Description of the familial case of the development of ischemic stroke in woman and perinatal ischemic brain damage in her two sons against the background of the thrombophilia gene polymorphism carrier status

Background. At present, cerebral circulation disorders in childhood remain insufficiently studied problem, despite the formation of a pronounced neurological deficit and a high risk of mortality. Description of the clinical case. In this clinical observation, a description of a 34-year-old woman with ischemic stroke, as well as her two sons with perinatal ischemic brain damage against background of thrombophilia, is presented. The results of the analysis of single nucleotide substitutions in the hemostasis system genes revealed that the mother had a coincidence of polymorphisms with the eldest son for three genes: F13 (G/T allele), ITGA2 (C/T allele) and PAI-1 (4G/4G allele), and also the coincidence of the /C allele for the ITGB3 gene with the younger son. Conclusion. In described case, the presence of risk factors for thrombotic conditions contributed to the onset of ischemic stroke in a female patient at a young age, and also became a predisposing factor in the development of severe cerebral ischemia in her sons.

ischemic stroke in young people, perinatal pathology, thrombophilia