Initial Misdiagnosis and Subsequent Disastrous Events in an Adult with Neurofibromatosis Type I Complicated by Vascular Involvement

Abstract

Background: Neurofibromatosis type 1(NF1) is a hereditary neurocutaneous syndrome caused by the mutation in NF1 gene with a very low incidence. Neurofibroma, Café-au-lait spot and osseous deformity are the most common clinical findings, however, uncommon vascular involvement in NF1 is the second most common cause of mortality following after malignancy.Case presentation: We report a patient with NF1 who suffered a rupture of his internal thoracic artery aneurysm and subclavian artery branch aneurysm in the setting of an intact extracranial vertebral artery aneurysm, which was ever mistaken for neurofibroma and subsequently underwent right brachial plexus nerve bundle separation due to conspicuous pain of his right upper arm and hand.Conclusions: This case highlights synchronous multiple aneurysms of NF1 presenting with life-threatening aneurysm rupture after surgery. Contrast-enhanced CT precisely defines its location and anatomic relationship with adjacent organs. Additionally, endovascular treatment has become the mainstay for vascular lesions or aneurysm rupture in those patients with NF1.