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Interv Neuroradiol. 2007 Dec;13(4):315-28. Epub 2008 Feb 1.

Extracranial vertebral artery involvement in neurofibromatosis type I. Report of four cases and literature review.

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1
Service de Neuroradiologie Diagnostique et Thérapeutique, Hôpital de Bicetre, Le Kremlin-Bicetre, Paris, France - Department of Neuroradiology, University of Sao Paulo, Brasil - vitormpbr@hotmail.com.

Abstract

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. 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.

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