Neurofibromatosis type 1 (NF1) is a variable penetrance autosomal dominant condition predominantly involving the peripheral nervous system. NF1 exhibits a wide spectrum of clinical patterns involving the skin, eye, brain, spinal cord, and, to a lesser extent, long bones and arteries. Arterial stenosis or aneurysms have been variously studied, but the association with NF1 has not been firmly established. A 31-year-old gentleman with NF1 experienced progressive neck pain over a five-month period, associated with limited range of motion and dysphagia. Magnetic resonance imaging (MRI) of the cervical spine suggests paraspinal plexiform neurofibromas with excessive reverse cervical lordosis. Further workups revealed a large left vertebral artery fusiform aneurysm and a pseudoaneurysm. The patient made a full recovery following endovascular embolization. It is crucial to maintain a high index of suspicion for vascular malformations in patients with NF1. The pathogenesis of vascular manifestations in NF1 and options for therapeutic management were discussed.
Keywords: endovascular embolization; neurofibromatosis; pseudoaneurysm; reverse cervical lordosis; vertebral artery aneurysm.
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