Internal Carotid Artery Aneurysms in a Patient With Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café au lait macules, neurofibromas, and iris hamartomas. Internal carotid artery aneurysms rarely affect patients with NF-1 but may be associated with rupture or neurologic complications. We report a 42-year-old female patient with NF-1 and a bilobed right internal carotid artery aneurysm extending to C2. The aneurysm was excised with high exposure of the carotid artery and reconstruction was performed using saphenous vein graft. We review the literature relevant to internal carotid aneurysms associated with NF-1.

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

“…Vascular abnormalities are well-recognized but rare manifestations of NF-I and comprise of stenoses, aneurysms, pseudoaneurysms, and rupture or fistulas formation, occlusions and arteriovenous malformations, mainly of the larger blood vessels [2] . The term NF-1 vasculopathy has been coined in the medical literature to describe these vascular abnormalities [1] . The frequency of this vasculopathy is hard to define.…”

“…Neurofibromatosis type 1 (NF-1), or von Recklinghausen disease, is a rare autosomal dominant neurocutaneous genetic disorder characterized by a generalized dysplasia of mesodermal and neuroectodermal tissues [1] , [2] . Cardinal features of NF-1 include multiple café au lait macules, benign neurofibromas, and iris hamartomas [3] .…”

“…Cardinal features of NF-1 include multiple café au lait macules, benign neurofibromas, and iris hamartomas [3] . Vascular abnormalities affect medium- and large-sized vessels and are recognized manifestations of NF-I [1] . Stenotic lesions predominate, while aneurysms are less common [4] , [5] .…”

“…Stenotic lesions predominate, while aneurysms are less common [4] , [5] . The renal artery is the most frequent site of involvement [1] , [3] . Carotid artery aneurysms are rare but often present with spontaneous rupture or neurological complications [1] .…”

“…The renal artery is the most frequent site of involvement [1] , [3] . Carotid artery aneurysms are rare but often present with spontaneous rupture or neurological complications [1] . Pathogenesis, clinical spectrum, and natural history of these abnormalities are unknown.…”