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


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Abstract

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.

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About the authors

A. E Shichkina

Regional Children's Clinical Hospital, Stavropol

Email: angelshich@mail.ru
PhD, Neurologist of the Psychoneurological Department

N. A Shamalov

Pirogov Russian National Research Medical University

O. V Agranovich

Regional Children's Clinical Hospital, Stavropol

M. D Bogatyreva

Stavropol Regional Clinical Hospital

E. A Tovkan

Regional Children's Clinical Hospital, Stavropol

References

  1. Launthier S., Carmant L., David M., et al. Stroke in children: The coexistence of multiple risk factors predicts poor outcome. Neurology 2000;54:371-78.
  2. Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young «Management of Stroke in Infants and Children. A Scientific Statement From a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young». Stroke 2008;39:2644-91.
  3. Lynch J.K., Nelson K.B. Epidemiology of perinatal stroke. Curr. Opin. Pediatr. 2001;13:499-505.
  4. Chabrier S., Husson B., Dinomais M., et al. New insights (and new interrogations) in perinatal arterial ischemic stroke. Thromb. Res. 2011;127:13-22.
  5. Simchen M.J., Goldstein G., Lubetsky A., et al. Leiden and Antiphospholipid Antibodies in Either Mothers or Infants Increase the Risk for Perinatal Arterial Ischemic Stroke. Stroke. 2009; 40:65-70.
  6. Kenet G., Lütkhoff L.K., Albisetti M., et al. Impact of Thrombophilia on Risk of Arterial Ischemic Stroke or Cerebral Sinovenous Thrombosis in Neonates and Children. A Systematic Review and Meta-Analysis of Observational Studies. Circulation. 2010;121:1838-47.
  7. Львова О.А. Ишемические инсульты и транзиторные ишемические атаки у детей: клинические и молекулярно-генетические аспекты течения, прогнозирование исходов, тактика динамического наблюдения. Дисc. докт. мед. наук. Екатеринбург, 2017. 42 с.
  8. Curry C.J., Bhullar S., Holmes J., et al. Risk factors for perinatal arterial stroke: a study of 60 mother child pairs. Pediatr. Neurol. 2007;37:99-107
  9. Момот А.П., Ройтман Е.В., Елыкомов В.А. и др. Протокол ведения Всероссийского регистра «Генетические и клинические факторы риска тромбоза у жителей, проживающих на территории РФ, фенотипирование и тромбопрофилактика тромбоэмболических осложнений в онтогенезе». Тромбоз, гемостаз, реология. 2010;3:30-78
  10. Golomb M.R., Heiny M., Garg B.P. Two cousins with neonatal stroke, PAI-1 4G variant and MTHFR A1298C mutation. J. Child. Neurol. 2007;22(6):753-55.
  11. Lu J.X., Lu Z.Q., Zhang S.L., et al. Polymorphism in Integrin ITGA2 is Associated with Ischemic Stroke and Altered Serum Cholesterol in Chinese Individuals. Balkan Med. J. 2014;31(1):55-9.
  12. Miller S.P., Wu Y.W., Lee J., et al. Candidate Gene Polymorphisms Do Not Differ Between Newborns With Stroke and Normal Controls. Stroke. 2006;37: 2678-83.
  13. Львова О.А., Гусев В.В., Кузнецов Н.Н., Баранов Д.А., и др. Наследственные прокоагулянтные и протромботические нарушения как ведущий этиологический фактор ишемических инсультов у детей раннего возраста. Журнал неврологии и психиатрии. 2013;2:13-20.
  14. Luo L., Chen D., Qu Y., et al. Association between Hypoxia and Perinatal Arterial Ischemic Stroke: A Meta-Analysis. PLoS One. 2014;9(2):e90106
  15. Козловская Н.Л. Тромбофилические состояния. Клиническая фармакология и терапия. 2003;12(1):74-9

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