Extracranial Vertebral Artery Involvement in Neurofibromatosis Type I: Report of Four Cases and Literature Review

Abstract

<jats:p> Neurofibromatosis type 1 (NF-1) is one of the most common inherited diseases and as an autosomal dominant genetic disorder results from NF-1 gene mutation with 100% penetration and wide phenotypic variability. </jats:p><jats:p> The disease can involve a wide variety of tissues derived from all three embryonic layers. NF-1 vasculopathy has been described primarily in peripheral arteries, but arteries supplying the CNS may also be involved. Of those, extracranial vertebral involvement is the commonest and most important. A series of four patients with NF-1 and vascular disease of the vertebral artery is described with a review of the pathophysiology, vascular phenotypes, their management and the pertinent literature. </jats:p>

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“…Similar to extracranial fistula in NF1 patients, the optimal treatment for VVAVFs in FMD is sacrifice of the affected artery due to the pathologic changes in the arterial wall. Complete assessment of the angioarchitecture or vascular anatomy of the VVAVFs and identification of the collateral flow from the uninvolved VA is imperative before planning endovascular treatment [21].…”

“…case can occur from forceful epidural compression from bilateral dilated epidural venous pouches. The large epidural venous pouch compressing spinal cord from spontaneous VVAVF was found more frequently in the fistula associated with NF1 [21,[26][27][28][29][30][31].…”

“…Spontaneous vertebro-vertebral arteriovenous fistulas (VVAVFs) are non-traumatic abnormal connections between the extracranial VA or its branches and neighboring veins including epidural venous plexus, paravertebral veins, internal jugular vein, and/or perimedullary veins [16,17]. Spontaneous VVAVFs have been associated with FMD, Neurofibromatosis Type 1 (NF1), and Ehlers-Danlos syndrome (EDS) [18][19][20][21][22]. Bilateral VVAVFs are extremely rare and usually traumatic cause, especially by bilateral iatrogenic puncture [23,24].…”

Targeted Embolization of Vertebral Arteriovenous Fistula Associated with Type 1 Neurofibromatosis: Case Report

“…Vascular lesions typically include arterial occlusion, intracranial vascular hypoplasia, moyamoya vessels, and arterial aneurysms. 1) AVFs associated with NF1 are rare, and to date, there have been only 40 case reports, 2,3) of which a few have been cured by means of endovascular treatment. The cause of AVF is usually believed to be an acquired condition caused by vascular fragility associated with NF1, 4) but some believe that it is due to congenital abnormalities of arteriovenous communication.…”

“…Of these, while vascular lesions are not uncommonly observed, vertebral arteriovenous fistula (AVF) is rare in NF1. [1][2][3] A few cases have been cured by means of endovascular treatment. Detachable balloons or a number of coils have been used in these cases.…”