Neurofibromatosis Resulting in Carotid Aneurysms with Subsequent Rupture: Presentation and Follow-up Management with Duplex Ultrasound

Abstract

Background Neurofibromatosis (NF) is a common genetic disorder responsible for the development of neuroectodermal tumors throughout the body. Although vascular involvement with these growths is uncommon, arteriovenous malformations, aneurysms, stenosis, and occlusions have been reported. We report a case of a patient with NF who presented with a ruptured internal carotid artery aneurysm and then developed a common carotid pseudoaneurysm with subsequent hemorrhage during repair. The use of duplex ultrasound (DU) in the initial diagnosis and follow-up management of this patient will be discussed. Case Report A 31 year-old man with a history of NF presented to the emergency department with pharyngitis and right neck swelling. The initial DU revealed a 2.4-cm distal right internal carotid artery (RICA) aneurysm, which was treated with a covered stent. On the first postoperative day, a new wall irregularity in the right common carotid artery measuring 1.6 cm and a high resistant Doppler signal in the RICA suggesting distal occlusion were demonstrated by DU. A transcranial duplex supported the ICA occlusion by demonstrating cross filling from the left to the right through the anterior communicating artery. Because of increased neck swelling, DU was repeated on the third day. At the site of the previously noted CCA irregularity, a 3.4-cm pseudoaneurysm had developed. During attempted repair in the endovascular suite, the patient developed massive hemorrhage. To control bleeding, intravascular coils were used to occlude the right external carotid artery, RICA, and right common carotid artery. An intraoperative DU confirmed the successful occlusion of the carotid vessels. Conclusion DU provided an accurate initial and follow-up diagnosis of the carotid aneurysms in a patient with vascular complications from NF.