Introduction Neurofibromatosis type-1(NF-1) is a rare autosomal dominant disease that affects one out of 3000 individuals. Patients of NF-1 are characterized by neuroectodermal tumors in the peripheral nervous system and cafe-au-lait spots. It can affect any organ system including vascular tissues. It was reported that 3.6% of patiens with NF-1 have associated vasculopathy which includes stenosis, aneurysms, and arteriovenous malformations. Spontaneous rupture of aneurysms is rare but when it happens, it can cause neurological deficit and life-threatening events such as neck hematoma compressing trachea and hemothorax. In general, patient’s tissue of neurofibromatosis-1 is very fragile and we have to consider this condition when we make treatment strategies for the patients. The pathogenesis and natural history of vascular lesions of NF-1 remains unknown.
Materials and methods We reviewed literatures of NF-1 patients who presented cervical artery pseudoaneurysm, specifically carotid, vertebral, or subclavian artery pseudoaneurysm and investigated the initial symptom, rupture or not, treatment and clinical outcome.
Results Total 52 cases, 59 pseudoaneurysms were reported in the English and Japanese literatures between 1967 and 2014. The mean age at the time of diagnosis was 43.84years old (range, 1–74 years). Twenty two cases were men and 30 cases were women. Seven cases had peudoaneurysms in multiple arteries. Fourteen lesions were at the extracranial internal carotid artery, one lesion of common carotid artery, 6 lesions of external carotid artery, 24 lesions of extracranial vertebral artery and 14 lesions of subclavian artery. Fifteen lesions were incidental and in the remaining 44 lesions, the symptom were ruptured psedoaneurysm (26 lesions), expanding mass (6 lesions), and neurological symptom (12 lesions). The treatments were surgery in 21 lesions, endovasclular treatment in 24 lesions, and the remaining 14 lesions received conservative treatment or were untreated. Most cases got recovery from the initial symptoms. Mortality was mostly associated with untreated cases and massive hemorrhage at the initial rupture of the aneurysm.
Conclusion Surgical repair and vessel reconstruction are limited by fragile nature of the artery in patients with NF-1. An endovascular approach, such as stenting and coil embolization is preferable in NF-1 associated pseudoaneurysms.
Disclosures M. Takano: None. O. Hamasaki: None. H. Chikuie: None.
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