Vertebral artery aneurysm rupture and hemothorax in a patient with neurofibromatosis Type-1: A case report and review of the literature

Abstract

Neurofibromatosis type-1 (NF-1) is an autosomal dominant genetic condition caused by mutation in the neurofibromin gene. Classic symptoms include neurofibromas, hyperpigmented cutaneous spots (cafe-au-lait macules), axillary and/or inguinal freckling, iris hamartomas (Lisch nodules), and bone lesions [1]. Rarely, patients with NF-1 can have vascular abnormalities such as aneurysms, stenoses, and arteriovenous malformations. The exact pathogenesis of these abnormalities is unknown, but is thought to be due to alteration of neurofibromin expression in endothelial and smooth muscle cells of blood vessels [2]. Most patients remain asymptomatic. The most common site of involvement was reported to be the renal artery, which leads to renal artery hypertension [2]. \n \nWe report a case of a 30-year-old female with NF-1 who presented with a spontaneous rupture of a vertebral artery (VA) aneurysm. A review of the literature by Oderich et\xa0al. found 46 reports of carotid, vertebral, and cerebral aneurysms, and noted that they occur most commonly in the third decade of life and are more frequent in women [3]. However, extracranial vertebral artery aneurysm in neurofibromatosis type 1 is very rare. Our review of the literature reveals 24 cases of extradural vertebral artery aneurysms in patients with NF-1, 12 of which ruptured and caused hemorrhage [4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24] (Table\xa01). \n \nTable\xa01 \n \nCases of Vertebral Artery Aneurysm in association with NF-1.