Staged endovascular and surgical management of vertebral arteriovenous fistula with ruptured aneurysm and pseudoaneurysm in neurofibromatosis type 1 complicated by fatal reperfusion injury: illustrative case

Abstract

BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with diverse systemic manifestations. Severe vertebral vascular complications are uncommon, and the combination of a vertebral arteriovenous fistula, ruptured aneurysm, and pseudoaneurysm is extremely rare and life-threatening. Management of these complex malformations remains challenging. Moreover, postoperative brainstem reperfusion injury after combined endovascular and surgical treatment has been poorly reported, and its clinical hazards are often underestimated. OBSERVATIONS This case involves a 41-year-old female with clinically confirmed NF1 and a positive family history. She presented with a progressive cervical mass and left upper limb neurological deficits. CT angiography and digital subtraction angiography confirmed the vascular lesions. The patient underwent staged endovascular embolization and open resection. Imaging verified complete lesion occlusion and relieved mass compression. Nevertheless, she developed cerebral hyperperfusion syndrome postoperatively and died of delayed fatal brainstem reperfusion injury on postoperative day 10. LESSONS Staged endovascular surgical treatment is a viable option for complex NF1-related vertebral vascular lesions. Chronic hypoperfusion from arterial steal increases reperfusion injury risk, requiring strict perioperative monitoring. Routine vascular screening is recommended for NF1 patients to detect hidden vascular lesions and facilitate early intervention. https://thejns.org/doi/10.3171/CASE26583