Аннотация: Представлены результаты успешного хирургического лечения пациента с крайне редким заболеванием - синдромом Паркса-Вебера-Рубашова, проявляющимся артериовенозными мальформациями нижней конечности и спинного мозга. Произведена эндоваскулярная эмболизация артериовенозной мальформации нижней конечности c использованием трех спиралей Flipper в связи с выраженностью клинической симптоматики. Сделано заключение об эффективности данного способа лечения. Список литературы 1. Ferrero E., Ferri M., Viazzo A. Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years. Ann Vasc Surg. 2011; 25(3): 384.e9-384.e15. 2. Boon L.M., Mulliken J.B. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum. Mol. Genet. 1994; 3: 1583-1587. 3. Brouillard P, Vikkula M. Genetic causes of vascular malformations. Hum. Mol. Genet. 2007; 16: R140-R149. 4. Volz K.R., Kanner C.D., Evans J. Klippel-Tmnaunay Syndrome: Need for Careful Clinical Classification. J. Ultrasound Med. 2016; 10: 7863/ultra.15.08007. 5. Namba K. and Nemoto S. Parkes Weber Syndrome and Spinal Arteriovenous Malformations. AJNR Am. J. Neuroradiol. 2013; 34: E110-E112. 6. Djindjian M., Djindjian R. Spinal cord arteriovenous malformations and the Klippel-Trenaunay-Weber syndrome. Surg Neurol. 1977; 8:229-37. 7. Greene A.K., Kieran M., Burrows PE. Wilms Tumor Screening Is Unnecessary in Klippel-Trenaunay Syndrome. Pediatrics. 2004; 113: e326 - e329. 8. Fernandez-Pineda I., Lopez-Gutierrez J.C. Parkes-Weber syndrome associated with a congenital short femur of the affected limb. Ann Vasc Surg. 2009; 23(2): 257.e1-2. 9. Revencu N., Boon L.M., Mulliken J.B. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008; 29(7): 959-65. 10. Revencu N., Boon L.M. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008; 29:959-65. 11. Thiex R., Mulliken J.B. A novel association between RASA1 mutations and spinal arteriovenous anomalies. AJNR Am J Neuroradiol. 2010; 31:775-79. 12. Sato T.N., Tozawa Y Distinct roles of the receptor tyrosine kinases Tie-1 and Tie-2 in blood vessel formation. Nature. 1995; 376: 70-74. 13. Lelievre E., Bourbon PM. Deficiency in the p110alpha subunit of PI3K results in diminished Tie2 expression and Tie2(-/-)-like vascular defects in mice. Blood. 2005; 105: 3935-3938. 14. Boon L.M., Mulliken J.B. RASA1: Variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev. 2005; 15(3): 265-269. 15. Revencu N. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008; 29(7):959-965. 16. Burrows PE., Gonzalez-Garay M.L., Rasmussen J.C. Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. PNAS. 2013; 110: 8621-8626. 17. Конюшевская А.А., Ярошенко С.Я. Клинический случай редкой наследственной патологии - синдром Клиппеля-Треноне-Вебера-Рубашова в практике врача-педиатра. Здоровье ребенка. 2014; 2(53): 117-122. 18. Behr G.G. CM-AVM syndrome in a neonate: Case report and treatment with a novel flow reduction strategy. Vasc Cell. 2012; 4(1): 19. 19. Wijn R.S. Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. Eur J Med Genet. 2012; 55(3):191-195.