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Abstract:

Results of successful surgical treatment of a patient with an extremely rare disease - Parkes-Weber- Rubashov syndrome, manifestating by arteriovenous malformations of the lower limb and spinal cord are presented. Endovascular embolization of arteriovenous malformation of the lower limb was treated with use of three Flipper coils due to the severity of the clinical symptoms. A conclusion about the effectiveness of this method of treatment is presented. 

 

References

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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.

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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.   Konyushevskaya A.A., Yaroshenko S.Ya. Klinicheskiy sluchay redkoy nasledstvennoy patologii - sindrom Klippelya-Trenone-Vebera-Rubashova v praktike vracha-pediatra [Rare hereditary pathology in practice of pediatrics - Klippel-Trenone-Weber-Rubashov syndrome (case report)]. Zdorov'ye rebenka. 2014; 2(53): 117 - 122 [In Russ].

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Abstract:

Arteriovenous malformation (AVM) of kidney - is rarely seen vascular anomaly, with clinical polymorphism (hematuria, hypertension, left ventricular hypertrophy, heart failure, abdominal pain), and difficult diagnostic algorithms and is often a cause for radical organ-resecting operations (nephrectomy).

Article describes a case report of 37 years old patient with a diagnosis of «arteriovenous malformation of left renal artery», and the clinical picture of hematuria, post-hemorrhagic anemia. Patient underwent ultrasound of kidneys and bladder (no disease found) and multi-slice computed tomography (AVM of upper pole of left kidney, sized 5,4x5,0 cm).

Patient underwent endovascular embolization of AVM with 4 coils «Flipper». Patients was discharged on the 7th day without complications after the control ultrasound and MSCT The use of selective endovascular embolization of renal AVM reduces or removes clinical manifestations, and has lower operational risks, as well as allows you to save the function of the intact portion of renal parenchyma, which don't lead to patient's disability (in comparison with to organ-resecting surgery).

 

           References

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3.     Sountoulides P, Zachos I. Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report. J Med Case Reports. 2008;2:144

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8.     Lacombe M. Renal arteriovenous fistula following nephrectomy. Urology. 1985;25:13-16.

9.     15. Bozgeyik Z., Ozdemir H., Orhan I., Cihangiroglu M., Cetinkaya Z. Pseudoaneurysm and renal arteriovenous fistula after nephrectomy: two cases treated by transcatheter coil embolization. Emerg Radiol. 2008;15:119-122.

10.   Oleaga J.A., Grossman R.A., McLean G.K., Rosen R.J., Freiman D.B., Ring E.J. Arteriovenous fistula of a segmental renal artery branch as a complication of a percutaneous angioplasty. AJR Am J Radiol. 1981;136:988-989.

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12.   Lupattelli T., Garaci F.G., Manenti G., Belli A.M., Simonetti G. Giant high-flow renal arteriovenous fistula treated by percutaneous embolization. Urology. 2003; 61:837.

13.   Saliou C., Raynaud A., Blanc F., Azencot M., Fabiani J.N. Idiopathic renal arteriovenous fistula: treatment with embolization. Ann Vasc Surg. 1998;12:75-77.

14.   6. Campbell J.E., Davis C., Defade B.P., Tierney J.P., Stone P. A. Use of an Amplatzer Vascular Plug for transcatheter embolization of a renal arteriovenous fistula. Vascular. 2009;17:40-43.

15.   7. Trocciola S.M., Chaer R.A., Lin S.C., Dayal R., Scherer M., Garner M., Coll D., Kent K.C., Faries P.L. Embolization of renal artery aneurysm and arteriovenous fistula: a case report. Vasc Endovascular Surg.2005;39: 525-529.

16.   Somani B.K., Nabi G., Thorpe P., Hussey J., McClinton S. Therapeutic transarterial embolisation in the management of benign and malignant renal conditions. Surgeon. 2006;4:348-352.

17.   Carrafiello G., Lagana D. Gross hematuria caused by a congenital intrarenal arteriovenous malformation: a case report. Journal of Medical Case Reports. 2011; 5:510.

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