Ruptured left external carotid artery aneurysm presenting as upper airway obstruction in von Recklinghausen's disease.

INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café-au-lait macules, neurofibromas, and iris hamartomas. Carotid artery aneurysms rarely affect patients with NF-1 but may be associated with rupture. We report the first episode of a ruptured external carotid aneurysm with severe life-threatening airway obstruction in a NF-1 patient.

PRESENTATION OF CASE: We report a case of NF-1 32-year-old woman admitted to our department for life-threatening upper airway obstruction caused by spontaneous expanding swelling in the left sided neck. The diagnosis of ruptured aneurysm was suspected clinically and confirmed by computed tomography of the neck. The patient required tracheotomy for breathing difficulties and hemostasis was assured surgically by ligation of the external carotid artery.

DISCUSSION: Vascular abnormalities are rare but recognized manifestation of type NF-1. They often affect medium and large sized vessels. Carotid aneurysms are asymptomatic in most patients; they are subject to sudden rupture with potentially devastating consequences. CT angiography is the gold standard for diagnosis of an aneurysmal rupture in NF-1 patients. Treatment consists on surgical ligation, resection and reconstruction or on percutaneous embolization.

CONCLUSION: Patients with NF-I have a wide spectrum of vascular abnormalities. Particularly, aneurysms can be life-threatening for these patients; their surgical management must be urgent in these situations.