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

Overview

Journal Interv Neuroradiol

Publisher Sage Publications

Specialty Neurology

Date 2010 Jun 23

PMID 20566100

Citations 11

Authors

V M Pereira

S Geiprasert

T Krings

J G M P Caldas

F Toulgoat

A Ozanne

P Mercier

P L Lasjaunias

Affiliations

Soon will be listed here.

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.

Citing Articles

Extracranial Thrombosed Vertebral Aneurysm Associated Neurofibromatosis Type1 Treated by Neuroendovascular Coil Embolization: A Case Report and Review of Literature.

Sano K, Kuge A, Kondo R, Yamaki T, Nakamura K, Saito S Clin Case Rep. 2025; 13(1):e70066.

PMID: 39759190 PMC: 11695465. DOI: 10.1002/ccr3.70066.

Diffuse scalp neurofibromas: Case series and Clinicoradiological characteristics of a rare vascular lesion.

Bleakley A, Betts G, Sainuddin S, Hilditch C Interv Neuroradiol. 2024; :15910199241267301.

PMID: 39094573 PMC: 11571356. DOI: 10.1177/15910199241267301.

[Neurovascular pathology in a patient with neurofibromatosis type 1. Case report].

Simal-Antuna M, Fernandez-Fernandez C, Larrosa-Campo D Rev Neurol. 2024; 79(4):115-118.

PMID: 39078031 PMC: 11469116. DOI: 10.33588/rn.7904.2024172.

Vertebral Artery Stenosis: A Narrative Review.

Burle V, Panjwani A, Mandalaneni K, Kollu S, Gorantla V Cureus. 2022; 14(8):e28068.

PMID: 36127977 PMC: 9477552. DOI: 10.7759/cureus.28068.

Successful Endovascular Trapping for Symptomatic Thrombosed Giant Unruptured Aneurysms of the V1 and V2 Segments of the Vertebral Artery: Case Report and Literature Review.

Fuga M, Tanaka T, Tachi R, Nogami R, Teshigawara A, Ishibashi T NMC Case Rep J. 2022; 8(1):681-690.

PMID: 35079534 PMC: 8769453. DOI: 10.2176/nmccrj.cr.2021-0107.

References

Kahara V, Lehto U, Ryymin P, Helen P . Vertebral epidural arteriovenous fistula and radicular pain in neurofibromatosis type I. Acta Neurochir (Wien). 2002; 144(5):493-6. DOI: 10.1007/s007010200071. View

Giuffre R, Sherkat S . The vertebral artery: developmental pathology. J Neurosurg Sci. 2000; 43(3):175-89. View

Muhonen M, Godersky J, VanGilder J . Cerebral aneurysms associated with neurofibromatosis. Surg Neurol. 1991; 36(6):470-5. DOI: 10.1016/0090-3019(91)90163-4. View

Vinchon M, Laurian C, George B, DArrigo G, Reizine D, Aymard A . Vertebral arteriovenous fistulas: a study of 49 cases and review of the literature. Cardiovasc Surg. 1994; 2(3):359-69. View

Easton D, Ponder M, Huson S, Ponder B . An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993; 53(2):305-13. PMC: 1682337. View

Cluzel P, Pierot L, Leung A, Gaston A, Kieffer E, Chiras J . Vertebral arteriovenous fistulae in neurofibromatosis: report of two cases and review of the literature. Neuroradiology. 1994; 36(4):321-5. DOI: 10.1007/BF00593272. View

Murata T, Arisawa M, Oda Y, Uchida Y, Okumura T, Morimoto M . [Case of cervical AVM associated with neurofibromatosis presenting unilateral pulsating exophthalmos]. Neurol Med Chir (Tokyo). 1983; 23(10):807-13. DOI: 10.2176/nmc.23.807. View

Tanaka T, Hasegawa Y, Kanki T, Hayashi J, Ui K, Usami S . [Combination of intravascular surgery and surgical operation for occipital subcutaneous arteriovenous fistula in a patient with neurofibromatosis type I]. No Shinkei Geka. 2002; 30(3):309-13. View

Schievink W, Piepgras D . Cervical vertebral artery aneurysms and arteriovenous fistulae in neurofibromatosis type 1: case reports. Neurosurgery. 1991; 29(5):760-5. DOI: 10.1097/00006123-199111000-00020. View

10.

Riccardi V . The vasculopathy of NF1 and histogenesis control genes. Clin Genet. 2001; 58(5):345-7. DOI: 10.1034/j.1399-0004.2000.580502.x. View

11.

Delis K, Gloviczki P . Neurofibromatosis type 1: from presentation and diagnosis to vascular and endovascular therapy. Perspect Vasc Surg Endovasc Ther. 2006; 18(3):226-37. DOI: 10.1177/1531003506296488. View

12.

Koenigsberg R, Aletich V, DEBRUN G, Camras L, Ausman J . Cervical vertebral arteriovenous fistula balloon embolization in a patient with neurofibromatosis type 1. Surg Neurol. 1997; 47(3):265-73. DOI: 10.1016/s0090-3019(96)00254-6. View

13.

Hamilton S, Friedman J . Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet. 2001; 58(5):341-4. DOI: 10.1034/j.1399-0004.2000.580501.x. View

14.

Ohkata N, Ikota T, Tashiro T, Okamoto K . [A case of multiple extracranial vertebral artery aneurysms associated with neurofibromatosis]. No Shinkei Geka. 1994; 22(7):637-41. View

15.

Rosser T, Vezina G, Packer R . Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 2005; 64(3):553-5. DOI: 10.1212/01.WNL.0000150544.00016.69. View

16.

PENFIELD W . Notes on Operative Technic in Neurosurgery. Ann Surg. 1946; 124(2):383-5. PMC: 1803640. View

17.

Magara T, Onoe M, Yamamoto Y, Kawakami K, Hirai T, Matsumoto M . [Massive mediastinal bleeding due to spontaneous rupture of the vertebral artery in von Recklinghausen disease]. Jpn J Thorac Cardiovasc Surg. 1998; 46(9):906-9. DOI: 10.1007/BF03217843. View

18.

Fujimura T, Terui T, Kusaka Y, Tagami H . Neurofibromatosis 1 associated with an intracranial artery abnormality, moyamoya disease and bilateral congenital large hairy pigmented macules. Br J Dermatol. 2004; 150(3):611-3. DOI: 10.1046/j.1365-2133.2004.05819.x. View

19.

Jentarra G, Snyder S, Narayanan V . Genetic aspects of neurocutaneous disorders. Semin Pediatr Neurol. 2006; 13(1):43-7. DOI: 10.1016/j.spen.2006.01.010. View

20.

Riccardi V . Histogenesis control genes and neurofibromatosis 1. Eur J Pediatr. 2000; 159(7):475-6. DOI: 10.1007/s004310051312. View