Endovascular management of craniospinal arteriovenous fistula causing steal syndrome in neurofibromatosis type 1: a case report

Introduction

Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen disease, is caused by autosomal dominantly inherited or de novo pathogenic variants in NF1, a large tumor suppressor gene located at 17q11.2 (1-3). As of recent data, over 3,000 distinct mutations in the NF1 gene have been identified and catalogued in the Human Gene Mutation Database with challenges in establishing clear genotype-phenotype correlations, contributing to a wide clinical spectrum of disease (4,5). NF1 represents a multi system disorder with extensive phenotypic variability. Its hallmark features include cutaneous neurofibromas, café-au-lait spots, and optic pathway gliomas (OPGs). However, systemic manifestations such as vascular anomalies, skeletal deformities, and neoplasms contribute significantly to morbidity and mortality (6,7). Although less common than OPG in patients with NF1, vascular anomalies carry greater clinical significance due to their potential to cause hemorrhage, ischemic stroke, and progressive neurological deterioration (8). Estimated incidence of NF1-associated vascular anomalies ranges from about 0.4% to 6.4% overall, with cerebrovascular involvement observed in roughly 2% to 5% of patients (9). The variety of vascular pathologies associated with NF1 collectively termed “NF1 vasculopathy”, encompasses arterial stenoses, aneurysms and arteriovenous fistulas (AVFs), predominantly affecting medium and large caliber vessels. The underlying mechanism of vascular lesions in NF1 involves abnormal proliferation and dysplasia of vascular smooth muscle cells secondary to neurofibromin deficiency, leading to fragile vessel walls prone to malformations (10). Although vascular abnormalities in NF1 are well documented (11-14), AVF remain exceptionally rare, with particularly scarce data available on craniospinal AVFs (15-19). Cerebral AVF can induce intracranial steal syndrome by establishing high flow, low resistance shunts that divert blood away from adjacent brain parenchyma (20). This diversion can lead to regional hypoperfusion and consequent neurological deficits (21,22). The combination of AVF and cerebral steal syndrome in NF1 is exceptionally rare. Despite increasing recognition of NF1 associated vasculopathy, there are lack of reports of craniospinal AVFs in NF, and therapeutic strategies remain poorly defined. Herein, we describe a unique clinical case of a large craniospinal AVF manifesting with migraine-like headache and steal syndrome in a patient with NF1, successfully treated with an endovascular approach. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-206/rc).

Case presentation

A 52-year-old female with a longstanding history of NF1 diagnosis based on clinical criteria established by the National Institutes of Health Consensus Development Conference (23) presented with new onset episodes of left-sided pulsatile hemi-cranial headaches, associated with photophobia and phonophobia but unresponsive to analgesics or triptans. The duration of episodes varied from several hours till full day. Headache symptoms improved after sleep. Over the course of 1 year, headache frequency progressively increased, reaching 23 days per month.

Her medical history was significant for multiple café-au-ait macules noted since early childhood, with progressive emergence of cutaneous and subcutaneous neurofibromas over several decades. At age 21 years, she identified a soft tissue lesion on the left index finger, initially mistaken for a wart. Subsequently, neurofibromas developed in the left popliteal fossa and other locations, culminating in a formal diagnosis of NF1 at age 23 years. Periodically the patient had shooting pains in the largest neoplasms, which were self-resolved. About 3 years ago, she began to experience periodical left sided ear pain with paresthesia and noted the soft tissue mass on the left posterolateral surface of the neck. There was no history of trauma or prior vascular pathology. The patient’s mother died in an accident when the girl was 3 years old, but, according to close relatives, the mother had a large number of moles and freckles on the skin of the trunk and extremities. The father had no similar manifestations. The patient’s son suffers from NF1, diagnosed at the age of 8 years, and had his right foot amputated at the age of 12 years due to intractable pain and gross deformity caused by neurofibroma. Genetic analysis was not conducted, primarily because of financial limitations, as testing is costly and not reimbursed by the healthcare system.

A preliminary diagnosis of migraine was made by the family physician; however, the headache was unresponsive to both analgesics and triptans. Several days prior to a scheduled neurologic consultation, she developed transient right-sided weakness and speech problems. The symptoms lasted about 10 minutes and afterwards disappeared. The frequency, duration and severity of episodes of neurological symptoms increased with time and in 1 month they occurred daily.

Neurological examination revealed patient fully alert and oriented, intact cranial nerves I XII, right-hand weakness fluctuated from light to severe and slightly instable gait. No sensory deficits were found. Multiple neurofibromas and café-au-lait spots of varying sizes were distributed over the limbs, trunk, and scalp (Figure 1). A pulsatile, non-tender mass was palpable on the left posterior lateral cervical region.

Figure 1 Diverse dermatological and soft tissue lesions in the patient with NF1. (A) Neurofibroma deforming the distal phalanx of the left index finger. (B) Non-deforming flat neurofibroma of the dorsal surface of the right hand. (C) Multiple neurofibromas of different sizes, birthmarks and coffee- and milk-colored spots on the abdominal wall. (D) Large neurofibroma and coffee-colored spots in the left hamstring area. (E) Xanthomatosis of the eyelids. (F) Hemangioma of the right nasolabial fold. NF1, neurofibromatosis type 1.

Magnetic resonance imaging (MRI) of the brain and cervical spine revealed a right OPG with cystic and solid components without compression of the optic chiasm, multiple T2 hyperintense cutaneous nodules, and a large spindle shaped mass in the left paravertebral region at C6–T4. Of particular note, MRI angiography revealed markedly dilated and tortuous vessels around the craniovertebral junction deforming the spinal cord, suggestive of a vascular malformation. Further diagnostic cerebral angiography revealed AVF in the left occipital retro-mastoid region, extending under the skull base and to the posterior neck (Figure 2). All fistulas drained into an ecstatic left paravertebral veins. The AVF was supplied by a direct fistula from the V4 segment of the left vertebral artery, with a longitudinal defect three times the artery’s diameter, as well as smaller feeders from the left occipital and ascending cervical arteries. A steal phenomenon was observed: AVF was opacified via the vertebrobasilar junction from the right vertebral artery, while the basilar artery and its branches were not visualized due to diversion of flow, instead filling retrogradely from the left carotid system via the posterior communicating artery (Figure 2).

Figure 2 Total selective digital subtractive cerebral angiography. (A) AG series from the right CCA (AP projection): retrograde contrast of the BA and its vascular territory through the VBJ. (B) AG series from the left CCA (lateral projection): contrasting the AVF from the left OA. (C) Superselective AG series from the left OA (lateral projection): intense opacification of the AVF with rapid filling of the ectatic left PVV. (D) AG series from the right VA (AP projection): retrograde opacification of the left VA (V4 segment) with subsequent opacification of the AVF; BA and its vascular territory are not opacified (steal syndrome). (E,F) AG series from the left VA: AVF at the proximal V4 segment of the left VA demonstrates marked AV shunting with drainage into an ectatic left PVV; there is no contrasting of arteries distal to the AVF (steal syndrome) (E: AP projection; F: lateral projection). (G,H) AG series from the left SCA (G: AP projection; H: lateral projection): in addition to direct arterial supply from the left VA, the AVF received additional arterial feeders from the left AsCA. AG, angiography; AP, anteroposterior; AsCA, ascending cervical artery; AVF, arteriovenous fistula; BA, basilar artery; CCA, common carotid artery; OA, occipital artery; PVV, paravertebral veins; SCA, subclavian artery; VA, vertebral artery; VBJ, vertebrobasilar junction.

A final diagnosis of craniospinal AVF with associated steal phenomenon in the context of NF1 was established. The vascular steal phenomenon was likely responsible for the patient’s migraine-like headache and intermittent neurological deficits. Given the high flow nature of the AVF and the patient’s progressively worsening symptoms, there was a significant risk of ischemic stroke and potential rupture, underscoring the need for prompt and careful management. The therapeutic strategy evolved during the patient’s care. Although open surgery was initially considered, surgical resection was deemed high risk due to the complex vascular anatomy, fragile dysplastic vessels, and deep-seated location adjacent to critical neurovascular structures. These facts led to a change in favor of an endovascular approach, with selective embolization undertaken to occlude the fistulous connections and exclude the AVF from the cerebral circulation. Using bilateral femoral access, two guiding catheters were placed into both vertebral arteries. Dual lumen dimethyl sulfoxide compatible balloon catheters (eclipse 6 mm × 15 mm) were positioned from the right and left vertebral arteries to isolate the fistulous defect. Balloon catheters were inflated to prevent reflux and distal embolization. After balloon inflation to block venous outflow, detachable Axium coils and Onyx 18 liquid embolic agent were delivered into the venous pouch adjacent to the arterial defect in the left vertebral artery.

The patient tolerated the endovascular embolization procedure well, with no intraoperative complications. Post embolization angiography confirmed complete occlusion of the AVF and the pathological segment of the vertebral artery, with preserved perfusion of the posterior inferior cerebellar artery via collateral flow from the contralateral vertebral artery. The basilar and cerebral arteries were adequately perfused without residual arteriovenous shunting (Figure 3).

Figure 3 Endovascular selective embolization to occlude the fistulous connections and exclude the AVF from cerebral circulation. (A) BC 1 was advanced from the right VA across the VBJ into the left VA (V4 segment), positioned proximal to the AVF and distal to the origin of the left PICA. BC 2 was advanced from the left VA and positioned distal to the fistula within the V4 segment. (B) BC 2 was inflated to occlude the arterial feeder arising from the left VA. (C) Through the working lumen of BC 1, detachable coils and the liquid embolic agent Onyx 18 were delivered into the AVF and the ectatic left PVV. (D) Postoperative AG series from the right VA (AP projection): complete occlusion of the AVF. The entire vertebrobasilar circulation is opacified. Retrograde opacification of the V4 segment of the left VA up to the origin of the left PICA, as well as opacification of the PICA via the VBJ from the right VA, was observed. (E) Postoperative AG series from the right VA (lateral projection) demonstrated complete AVF occlusion, opacification of the vertebrobasilar circulation, and retrograde opacification of the left VA (V4 segment) up to the PICA origin via the VBJ. (F) Postoperative AG series from left VA (AP projection): complete occlusion of the AVF with sacrifice of the left VA at the level of the fistulous defect. (G) Postoperative AG series (lateral projection): no residual arterial supply to the AVF from the left AsCA. (H) Postoperative AG series from the left CCA (lateral projection): no residual arterial supply to the AVF from the left OA. AG, angiography; AP, anteroposterior; AsCA, ascending cervical artery; AVF, arteriovenous fistula; BA, basilar artery; BC, balloon catheter; CCA, common carotid artery; OA, occipital artery; occl, occluded; PICA, posterior inferior cerebellar artery; PVV, paravertebral veins; VA, vertebral artery; VBJ, vertebrobasilar junction.

The patient was reexamined 24 hours after intervention. She reported an improvement of headache and experienced no further neurologic deficits. Neurological assessment confirmed complete resolution of symptoms, including normal muscle strength in the right hand and normal gait, demonstrating immediate effectiveness of the procedure. She was discharged on 5^th day after intervention. However, on postoperative day 10, the patient had dyspnea and was readmitted with spontaneous hemothorax, necessitating emergent chest drainage. Subsequent computer tomography angiography excluded pulmonary embolism. No vascular abnormalities of the chest were detected on imaging. This rare complication more probably was attributed to NF1-related vasculopathy, consistent with reports of spontaneous hemorrhage due to vessel fragility in these patients. Dynamic outpatient follow up was recommended. Management of the coexisting OPG was adjusted toward a conservative approach, given its stable size, indolent course, and lack of significant visual impairment. Regular ophthalmological and neuroimaging surveillance were advised.

During follow-up visit 1 month after intervention the patient did not have any neurological symptoms. According to her headache diary, 2/30 days of non-pulsative headache resolved after 1,000 mg of acetaminophen. Follow-up angiography performed 6 months later confirmed no recurrence of the AVF. The patient was observed during 14 months after intervention. She had one new neurofibroma on the left leg and was still free of symptoms. Description of timeline of presentation and case progression was provided in Table 1. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient for publication of this case report and accompany images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

This case report highlights the successful recognition and further endovascular management of rare NF1 manifestations: craniospinal AVF with associated steal syndrome, which are often overlooked but significantly impact the patients’ outcomes (6). Craniospinal AVFs in NF1 are exceptionally rare, and reports documenting successful management are limited (8-10,21,22). NF1 is most linked to such vascular abnormalities as stenosis or occlusions, as well as intracranial aneurysms. Less commonly, NF1 may be associated with vascular malformations, including AVF and fistulas (7). To the best of our knowledge, the patient presented in this report represents one of the very few documented cases of a craniospinal AVF linked to NF1.

A systematic review identified approximately 48 reported cases of vertebral AVFs associated with NF1, most of which occurred in adults, were in the cervical region, and were reported predominantly in female patients. Left-sided fistulae were more common than the right side and most seen in the upper V2 segment of the vertebral artery (24). Clinical presentation was heterogeneous and included cervical bruit, radiculopathy, myelopathy, headache, signs of venous hypertension and, in some cases, steal phenomenon. Several case reports describe NF1-associated vertebral artery AVFs presenting with symptoms related to high-flow shunting. Zhao et al. reported a 31-year-old woman with NF1 who developed a vertebral AVF and presented with neck pain, headache, and upper limb weakness; endovascular occlusion of the fistula resulted in clinical improvement (13). Wang et al. described a complex multi orifice vertebral AVF in a patient with NF1 and severe scoliosis, emphasizing that these fistulas are typically extradural and arise from dysplastic vertebral arteries (25). Totsuka et al. reported a cervical vertebral AVF in a 65-year-old female patient with NF1 who presented with radiculopathy and was successfully treated by endovascular embolization (26). Earlier reports have also documented spontaneous spinal epidural AVFs in NF1 associated with large venous varices and progressive radiculomyelopathy, further supporting the observation that most NF1-related spinal shunts drain into the epidural venous system and cause symptoms through mass effect or venous congestion rather than intradural venous hypertension alone (27).

In contrast to previously reported NF1-associated AVFs, which predominantly manifest with radiculomyelopathy, bruit, or compressive symptoms from epidural venous drainage, our case is distinguished by a headache dominant clinical presentation attributable to a spinal AVF with angiographic evidence of vascular steal phenomenon (26-28). High flow AVFs lead to intracranial steal syndrome through diversion of blood from normal circulation. The phenomenon arises due to the pressure gradient between arteries supplying the AVF and those perfusing normal brain tissue, resulting in a redistribution of blood flow toward the AVF nidus (20,22). In our patient, this diversion led to retrograde flow through the posterior communicating artery from the carotid circulation, resulting in hypoperfusion and neurological symptoms. In some reported cases, high-flow shunting was associated with hemodynamic steal phenomena and symptoms related to impaired perfusion, particularly in cases accompanied by headache or neurological symptoms disproportionate to local compressive findings. Benndorf et al. described a vertebral AVF in a patient with NF1 in which retrograde flow in the contralateral vertebral artery was observed due to a steal phenomenon on angiography, reflecting hemodynamic diversion of blood through the high-flow shunt (29). Although this aspect has not been extensively addressed in published series. Therefore, our clinical case broadens the recognized spectrum of NF1-related vasculopathy by demonstrating that spinal AVFs may produce clinically significant cerebrovascular hemodynamic effects in the absence of overt myelopathy or hemorrhage.

Open surgical resection carries high risk due to vessel fragility, whereas endovascular intervention offers a minimally invasive alternative with lower perioperative morbidity (27). Treatment in the majority of reported NF1-associated AVFs has been endovascular, predominantly transarterial or transvenous embolization, whereas open surgical intervention was reserved for complex or refractory cases. Embolization most commonly was realized using coils and liquid embolic agents, frequently performed with a deconstructive strategy including parent vertebral artery sacrifice (28). Overall, endovascular treatment achieved high rates of angiographic cure with acceptable morbidity (24). We demonstrate a minimally invasive therapeutic option in the context of fragile NF1 vasculature. Mechanisms proposed for AVF formation include dysplastic proliferation of smooth muscle cells or neurofibromatous involvement of the vessel wall, as well as congenital mesodermal dysplasia (8-10,25).

The AVF in our patient likely developed gradually, with perinatal origin or postnatal enlargement due to NF1-related vascular dysplasia. The clinical presentation and imaging findings support this mechanistic interpretation, emphasizing the interplay between structural vascular anomalies and hemodynamic consequences in NF1.

Literature also supports conservative management of small, asymptomatic OPGs, which guided the decision in this case (30).

Spontaneous hemothorax in our patient, developed on the tenth day after intervention, most probably not connected with the procedure. It may be attributed to vascular fragility associated with NF1. Previous reports have documented spontaneous arterial rupture and hemorrhagic complications in NF1, reflecting underlying vessel wall dysplasia and fragility predisposing to spontaneous bleeding (31,32).

Screening for vascular anomalies in NF1 remains controversial. Routine vascular imaging is not currently recommended for asymptomatic patients due to low prevalence; however, selective imaging is indicated in patients presenting with neurological symptoms suggestive of vascular compromise (29), the usefulness of this recommendation was underlined by our case. Annual clinical screening for common NF1-related conditions is recommended to prevent complications such as vision problems due to OPG or stroke from vascular abnormalities (3,5,7). NF1 presents a multisystemic challenge requiring a multidisciplinary approach, with particular attention to vascular complications.

Limitations of this report include single patient design, which reduces generalizability, and the lack of genetic testing, precluding correlation between genotype and vascular phenotype.

Conclusions

This report highlights the rare coexistence of craniospinal AVF and NF1 manifested by migraine-like headache and transient neurological deficit caused by hemodynamic “steal” syndrome. Endovascular embolization provided safe and effective treatment, resulting in symptom resolution and AVF occlusion. The case underscores the importance of recognizing vascular complications in NF1 and tailoring individualized management strategies. To ensure rapid diagnosis and optimal care, clinicians must be familiar with the wide spectrum of NF1 manifestations. Increased reporting and further research on NF1 genetics will enhance understanding of these associations.

Acknowledgments

We would like to thank the interventional radiology team for procedural support and the patient for consenting to this publication.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-206/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-206/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-206/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient for publication of this case report and accompany images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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