Endovascular management of spontaneous vertebrovertebral arteriovenous fistula associated with neurofibromatosis 1

Narayana, Randhi Venkata; Pati, Rajesh; Dalai, Sibasankar

doi:10.4103/0971-3026.150132

Cited by 8 publications

(4 citation statements)

References 9 publications

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“…However, untreated symptomatic cases pose the potential for heightened adverse outcomes [1,3,26]. Approximately one-third of VVF cases are spontaneous, often observed in individuals with underlying genetic disorders, such as NF-1, or connectivetissue disorders, like Ehlers-Danlos syndrome or fibromuscular dysplasia [10][11][12][13][14]16,17].…”

Section: Discussionmentioning

confidence: 99%

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Vertebro-Vertebral Arteriovenous Fistulae: A Case Series of Endovascular Management at a Single Center

Withayasuk,

Wichianrat,

Sangpetngam

et al. 2024

Diagnostics

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Objective: Vertebro-vertebral arteriovenous fistulae (VVFs) are a rare disorder characterized by a direct shunt between the extracranial vertebral artery and the veins of the vertebral venous plexus. This study aims to comprehensively review the characteristics and outcomes of endovascular treatments for VVFs at our center. Methods: A retrospective review was conducted on 14 patients diagnosed with a VVF who underwent endovascular treatment at Siriraj Hospital from January 2000 to January 2023. The study assessed patient demographics, presentation, fistula location, treatment strategies, endovascular techniques employed, and treatment outcomes. Results: Among the 14 patients, 11 (78.6%) were female, with an age range from 25 to 79 years (median: 50 years). Spontaneous VVFs were observed in 64.3% of the cases, including three associated with neurofibromatosis type 1 (NF-1). Iatrogenic injury accounted for two cases, and three patients had VVFs resulting from traffic accidents. A pulsatile neck mass and tinnitus, with or without neurological deficits, were common presenting symptoms. Active bleeding was observed in three cases with vascular injury, while unilateral proptosis, congestive heart failure, and incidental findings each presented in one patient. All the VVFs were successfully obliterated without major treatment complications. Parent vessel sacrifice was performed in 85.7% of the cases, while vertebral artery preservation was achieved in the remaining two patients. Embolic materials included detachable balloons, detachable coils, and n-butyl cyanoacrylate (NBCA) glue. All the presenting symptoms showed improvement, and no morbidity or mortality was observed. Conclusions: Endovascular embolization is a feasible and effective approach for achieving complete VVF obliteration with safety. Parent artery sacrifice should not be reluctantly performed, particularly when adequate collateral circulation is demonstrated.

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Section: Discussionmentioning

confidence: 99%

“…These occurrences, while relatively infrequent, may arise spontaneously or result from mechanical, traumatic, or iatrogenic factors [4][5][6][7][8]. Spontaneous VVFs are associated with conditions such as NF-1, fibromuscular dysplasia, or other connective tissue diseases [3,[9][10][11][12][13][14][15][16][17].…”

Section: Introductionmentioning

confidence: 99%

Vertebro-Vertebral Arteriovenous Fistulae: A Case Series of Endovascular Management at a Single Center

Withayasuk,

Wichianrat,

Sangpetngam

et al. 2024

Diagnostics

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“…Spontaneous vertebral AVF is extremely rare and is associated with a variety of vascular dysplastic disorders such as NF-1, fibromuscular dysplasia, and Marfan's syndrome ( 4 ). A series of cases of AVF associated with NF-1 have been published during the past decades and most cases were vertebral AVF ( 5 ), among which the female accounted for the majority.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Multi-Orifices Vertebral Arteriovenous Fistula With Severe Scoliosis in Neurofibromatosis Type 1: Might Be a Congenital Disease With Mesodermal Dysplasia

et al. 2021

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Background: Vertebral arteriovenous fistula (AVF) associated with neurofibromatosis type 1 (NF-1) is a rare condition in the previous reports. However, whether vertebral AVF in NF-1 is congenital or NF-1 disease progression hasn't been clarified.Case Description: We reported a 48-year-old male case of vertebral AVF simultaneously combined with thoracic scoliosis and NF-1. Preoperative CT angiography showed the AVF with multiple orifices located on the vessel wall of the vertebral artery, which was proved during the procedure of endovascular treatment. By occluding the parent vertebral artery, the AVF was finally cured. Further whole-exome sequencing identified a novel germline heterozygous point nonsense mutation, c.G397T(p.E133X), in the NF1(NM_000267) gene exon4.Conclusions: From this patient, we speculate that vertebral AVF associated with NF-1 might be a congenital disease as a manifestation of mesodermal dysplasia.

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“…AVM of the brain and spinal cord in NF1, although rare, is not an uncommon association and has been described in previous reports. [89] They tend to be clinically silent lesions and symptoms vary depending on their type, size, and location. AVMs are usually congenital in origin but may be followed by trauma.…”

Section: Discussionmentioning

confidence: 99%

Arteriovenous malformation underlying a plexiform neurofibroma: An unusual presentation

Abbas¹,

Khani

Zare³

2017

Indian Dermatol Online J

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Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma. This report emphasizes the importance of careful examination and proper investigations of the plexiform neurofibroma prior to treatment strategies to avoid future complications. The rarity of plexiform neurofibroma in association with arteriovenous malformation at the same site was also highlighted in this report.

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Endovascular management of spontaneous vertebrovertebral arteriovenous fistula associated with neurofibromatosis 1

Abstract: Extra cranial vertebrovertebral arteriovenous fistulas (VV AVF) are commonly associated with trauma. Their presentation may vary from palpable thrill and myelopathy or myeloradiculopathy. Sudden onset paraparesis is rare.

Cited by 8 publications

References 9 publications

Vertebro-Vertebral Arteriovenous Fistulae: A Case Series of Endovascular Management at a Single Center

Vertebro-Vertebral Arteriovenous Fistulae: A Case Series of Endovascular Management at a Single Center

Case Report: Multi-Orifices Vertebral Arteriovenous Fistula With Severe Scoliosis in Neurofibromatosis Type 1: Might Be a Congenital Disease With Mesodermal Dysplasia

Arteriovenous malformation underlying a plexiform neurofibroma: An unusual presentation

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