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

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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Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

Sao Paulo Medical Journal ◽

10.1590/s1516-31802011000200010 ◽

2011 ◽

Vol 129 (2) ◽

pp. 110-112 ◽

Cited By ~ 7

Author(s):

Luiz Guilherme Darrigo Júnior ◽

Elvis Terci Valera ◽

André de Aboim Machado ◽

Antonio Carlos dos Santos ◽

Carlos Alberto Scrideli ◽

...

Keyword(s):

Moyamoya Disease ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Neurofibromatosis Type ◽

Type I ◽

Moyamoya Syndrome ◽

Radiological Findings ◽

Convulsive Seizures ◽

Age Range

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.

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Spontaneous Rupture of Multiple Occipital Artery Aneurysms in a Patient With Neurofibromatosis Type 1

Vascular and Endovascular Surgery ◽

10.1177/1538574417742285 ◽

2017 ◽

Vol 52 (1) ◽

pp. 86-88 ◽

Cited By ~ 3

Author(s):

Daniele Bissacco ◽

Maurizio Domanin ◽

Silvia Romagnoli ◽

Edoardo Martelli ◽

Vittorio Civelli ◽

...

Keyword(s):

Nervous System ◽

Neurofibromatosis Type 1 ◽

Spontaneous Rupture ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Neurofibromatosis Type ◽

Occipital Artery ◽

Endovascular Approach ◽

Spontaneous Hematoma

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder, mainly characterized by skin and peripheral nervous system abnormalities. Uncommonly, NF-1 may be associated with peripheral or supra-aortic trunks artery aneurysms. We report a case of symptomatic multiple occipital artery aneurysms detected in a 53-year-old woman affected by sporadic NF-1. An endovascular approach was performed to exclude aneurysms and to stop laterocervical spontaneous hematoma.

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EXTRACRANIAL VERTEBRAL ARTERY ANEURYSM RUPTURED INTO THE THORACIC CAVITY WITH NEUROFIBROMATOSIS TYPE 1: CASE REPORT

Neurosurgery ◽

10.1227/01.neu.0000125547.31328.69 ◽

2004 ◽

Vol 54 (6) ◽

pp. 1517-1521 ◽

Cited By ~ 22

Author(s):

Takeshi Miyazaki ◽

Fumihito Ohta ◽

Mitsuhiro Daisu ◽

Yoshinobu Hoshii

Keyword(s):

Case Report ◽

Vertebral Artery ◽

Neurofibromatosis Type 1 ◽

Artery Aneurysm ◽

Neurofibromatosis Type ◽

Thoracic Cavity ◽

Extracranial Vertebral Artery

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Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

Case Reports in Pediatrics ◽

10.1155/2013/458543 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4

Author(s):

Masato Kimura ◽

Shuhei Kakizaki ◽

Kengo Kawano ◽

Shinichi Sato ◽

Shigeo Kure

Keyword(s):

Thoracic Aorta ◽

Neurofibromatosis Type 1 ◽

Aortic Coarctation ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Neurofibromatosis Type ◽

Lisch Nodules ◽

Atypical Coarctation ◽

Graft Interposition

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly with renal artery stenosis in children. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been reported. Here we describe the case of a 4-year-old girl who presented with NF1 and hypertension due to atypical coarctation of the thoracic aorta. The diagnosis of coarctation of the thoracic aorta at the Th5-to-Th6 level was made following catheterization with a pressure gradient of 40 mmHg. The patient underwent surgery comprising resection of the coarctation of the thoracic aorta and graft interposition. On the basis of our findings, annual assessment of blood pressure is advised for patients with NF1.

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Ruptured Extracranial Vertebral Artery Aneurysm Associated With Neurofibromatosis Type 1

Neurologia medico-chirurgica ◽

10.2176/nmc.52.446 ◽

2012 ◽

Vol 52 (6) ◽

pp. 446-449 ◽

Cited By ~ 11

Author(s):

Hisaya HIRAMATSU ◽

Shusuke MATSUI ◽

Shuhei YAMASHITA ◽

Mika KAMIYA ◽

Tae YAMASHITA ◽

...

Keyword(s):

Vertebral Artery ◽

Neurofibromatosis Type 1 ◽

Artery Aneurysm ◽

Neurofibromatosis Type ◽

Extracranial Vertebral Artery

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A Rare Association Between Neurofibromatosis Type 1 and Thigh Leiomyosarcoma

Journal of Clinical and Medical Research ◽

10.37191/mapsci-2582-4333-3(4)-080 ◽

2021 ◽

Author(s):

Nissrine Amraoui

Keyword(s):

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Neurofibromatosis Type ◽

Dominant Mode ◽

National Institutes Of Health ◽

Rare Association ◽

Pleomorphic Sarcoma ◽

Clinical Diagnostic Criteria

Neurofibromatosis type 1 (NF1) is a rare genetic disorder sporadic or genetically transmitted in autosomal dominant mode with an estimated incidence of 1 :3000-4000 live births [1]. Clinical diagnostic criteria are well established. About that there are seven criteria for NF I according to the National Institutes of Health (Table 1) [2] and two or more of which must be met to make a diagnosis of the disease. During NF I, the susceptibility to neoplastic malignant transformation is the main feature of the disease with a probability from 3 to 4 times greater than the general population [3-5]. On the other hand, few cases of NF I associated with sarcoma including pleomorphic sarcoma [6], rhabdomyosarcoma [7], leiomyosarcoma [8] and Ewing sarcoma [9], have been reported.

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Vertebral Arteriovenous Fistula Associated with Neurofibromatosis Type I Misdiagnosed as a Giant Aneurysm

Interventional Neuroradiology ◽

10.1177/159101990000600109 ◽

2000 ◽

Vol 6 (1) ◽

pp. 67-74 ◽

Cited By ~ 5

Author(s):

G. Benndorf ◽

U. Assmann ◽

A. Bender ◽

T. N. Lehmann ◽

W. R. Lanksch

Keyword(s):

Arteriovenous Fistula ◽

Giant Aneurysm ◽

Neurofibromatosis Type ◽

Treatment Modalities ◽

Type I ◽

Extracranial Vertebral Artery ◽

Mca Aneurysm ◽

The Right ◽

Partial Thrombosis

A 59-year-old man with neurofibromatosis type 1 (NF1) presented with bruits and neck pain due to a space occupying lesion in the right neck tissue. Digital subtraction angiography (DSA) showed an arteriovenous fistula (AVF) of the right extracranial vertebral artery (VA) with a giant venous pouch and an intracranial berry aneurysm of the right middle cerebral artery (MCA). First, the MCA aneurysm was surgically clipped, then the patient was treated by embolisation with coils. The coils were placed transarterially from the left VA resulting in a partial thrombosis of the venous pouch. Complete closure was achieved secondarily by retrograde transvenous catheterization. Etiology and treatment modalities are discussed.

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Cervical Vertebral Artery Aneurysms and Arteriovenous Fistulae in Neurofibromatosis Type 1: Case Reports

Neurosurgery ◽

10.1227/00006123-199111000-00020 ◽

1991 ◽

Vol 29 (5) ◽

pp. 760-765 ◽

Cited By ~ 48

Author(s):

Wouter I. Schievink ◽

David G. Piepgras

Keyword(s):

Vertebral Artery ◽

Neurofibromatosis Type 1 ◽

Case Reports ◽

Artery Aneurysm ◽

Neurofibromatosis Type ◽

Neck Mass ◽

Vascular Lesions ◽

Subclavian Artery Aneurysm ◽

Extracranial Vertebral Artery

Abstract Neurofibromatosis is of particular interest to neurosurgeons because of the various central and peripheral nervous system tumors and, more rarely, cervicocerebral arterial lesions associated with the disease. In the present paper, we report two patients with neurofibromatosis Type 1 (von Recklinghausen's disease) who had anomalies of the extracranial vertebral arteries. A large extracranial vertebral artery' aneurysm was incidentally discovered in the first patient, a 43-year-old woman, after rupture of a subclavian artery aneurysm. The second patient, a 28-year-old woman, had an enlarging neck mass and was found to have an extensive extracranial vertebral artery arteriovenous fistula. The vascular lesions associated with neurofibromatosis Type 1 in general and those arising from the extracranial vertebral artery in particular are reviewed.

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PSEUDOTUMORAL PRESENTATION OF A CERVICAL EXTRACRANIAL VERTEBRAL ARTERY ANEURYSM IN NEUROFIBROMATOSIS TYPE 1

Neurosurgery ◽

10.1227/01.neu.0000290919.47847.d7 ◽

2007 ◽

Vol 61 (3) ◽

pp. E658-E658 ◽

Cited By ~ 19

Author(s):

Matthieu Peyre ◽

Augustin Ozanne ◽

Ranjeev Bhangoo ◽

Vitor Pereira ◽

Marc Tadié ◽

...

Keyword(s):

Magnetic Resonance ◽

Vertebral Artery ◽

Neurofibromatosis Type 1 ◽

Artery Aneurysm ◽

Neurofibromatosis Type ◽

Vascular Lesions ◽

Cervical Lesions ◽

Computed Tomographic ◽

Extracranial Vertebral Artery

Abstract OBJECTIVE Neurofibromatosis Type 1 (NF1) is known to be associated with vascular lesions. Association with an extracranial vertebral artery aneurysm is very rare. We report the case of such an aneurysm mimicking a cervical neurofibroma in NF1. CLINICAL PRESENTATION An 18-year-old woman with previously diagnosed NF1 presented with a C6 radiculopathy. There were no clinical features suggesting a vascular origin for the lesion. The computed tomographic and standard magnetic resonance imaging scans showed a C5–C6 contrast-enhancing lesion responsible for bony erosion. Subsequent, magnetic resonance angiography and digital subtraction angiography diagnosed the lesion as a C5–C6 vertebral artery aneurysm. INTERVENTION The lesion was treated by endovascular occlusion of both the aneurysm and the parent vertebral artery with an initial immediate disappearance of the pain. CONCLUSION This case serves as a reminder of the importance of ruling out a vertebral artery aneurysm with angiography when managing cervical lesions in patients with NF1.

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