Fusiform aneurysmal dilatation of the intracavernous carotid siphon in a case of neurofibromatosis Type 1: simple coincidence?

Introduction: Neurofibromatosis Type I (NF1), is often mentioned among the heritable neurocutaneous disorders associated with stenoses or aneurysmal arterial disease affecting predominantly the renal arteries and less often the abdominal aorta (middle aortic syndrome), and mesenteric and peripheral arteries, but the association with intracranial aneurysms, has not been firmly established. Here, we report a case of multiple intracranial arterial aneurisms occurring in a patient affected by NF1. Materials and methods: A 21-year-old man affected by NF1 was admitted to the hospital with a history of left painful ophthalmoplegia occurred 1 month before admission. A MR Imaging (MRI) of the brain with MR and CT Angiography, of the intracranial arteries wasperformed. Results: The patient was followed clinically since the age of 4 years, when a routine MRI has shown two intracranial aneurysms, one at left internal carotid artery as a huge fusiform intracavernous aneurysm and the second as controlateral smaller aneurysm. Otherwise in good health, the patient has followed a long clinical 18-year follow-up, without any special treatment. At age 21 he suddenly manifested a left painful ophthalmoplegia. The MR imaging (MRI), with MR and CT angiography, showed a partial thrombosis of left intracavernous aneurysm. An oral anticoagulation quickly established has resulted in complete resolution of symptoms. Conclusions: Among the rare cerebrovascular abnormalities in NF1, more than 85% cases are of purely occlusive or stenotic nature with intracranial aneurysm being uncommon. Including our case, we identified 29 cases of intracranial aneurysms in the literature. Predominantly, the aneurysms were located in the ICA circulation, being very rare multiple aneurysms, as evidenced in our patient. In conclusion, NF1, from presentation and diagnosis to its treatment, requires continued attention with emphasis on vascular disease and its management.