This paper reports a critical case of catastrophic rupture of an internal carotid aneurysm in a 30-year-old female diagnosed with Neurofibromatosis Type 1 (NF1). The patient, previously operated on for scoliosis and without known history of NF1, presented to the emergency department with a rapidly expanding latero-cervical mass following a minor infection treated with antibiotics. Initial examinations revealed a jugulo-carotid fistula and extensive vascular damage characterized by a ruptured aneurysm of the left internal carotid artery. Despite emergent surgical intervention aimed at vascular control and haemostasis, the patient succumbed to complications. This case highlights the vascular fragility associated with NF1 and underscores the need for heightened awareness of its possible severe manifestations in undiagnosed individuals. The findings suggest that vascular abnormalities in NF1, while rare, pose significant risks and require careful diagnostic scrutiny to prevent fatal outcomes. This study contributes to the limited knowledge on the vascular involvements in NF1, particularly the incidence and management of carotid artery aneurysms, urging for further research and better diagnostic protocols.
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Boulman et al. (2024) studied this question.
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