Zhao J Z, Han X D
Department of Neurosurgery, Beijing Tian Tan Hospital, China.
Surg Neurol. 1998 Dec;50(6):592-6. doi: 10.1016/s0090-3019(97)00376-5.
von Recklinghausen's neurofibromatosis is a hereditary disease that may affect any organ or system of the body primarily or secondarily, including the vascular system. Among the rare cerebrovascular abnormalities, the most common is stenosis or occlusion of the cerebral artery. Intracranial aneurysms are uncommon.
A case of an intracranial cerebral aneurysm associated with von Recklinghausen's neurofibromatosis is reported. A 55-year-old woman presented with a history of intermittent headache for 2 months and right oculomotor nerve palsy for 1 month. Widespread cutaneous neurofibromas and angiomas were found over her trunk and limbs with prominent cafe-au-lait spots. X-ray showed that her left lung was compressed by a large mass in the left chest with rib defects and lateral spinal curvature. Right internal carotid angiography revealed a saccular aneurysm between C1 and C2. Craniotomy to clip the aneurysm could not be performed because the mass in her chest made intubation for general anaesthesia almost impossible.
The clinical features of this case are discussed together with a review of 15 similar cases in the literature. There are different theories about this disorder. We agree that the malformations are derived not only from ectodermal, but also from mesodermal pathology. In terms of our case, we consider the progression of this disease to be slow.
冯雷克林霍增氏神经纤维瘤病是一种遗传性疾病，可原发或继发影响身体的任何器官或系统，包括血管系统。在罕见的脑血管异常中，最常见的是脑动脉狭窄或闭塞。颅内动脉瘤并不常见。
报告一例与冯雷克林霍增氏神经纤维瘤病相关的颅内脑动脉瘤病例。一名55岁女性，有2个月间歇性头痛病史和1个月右动眼神经麻痹病史。在她的躯干和四肢发现广泛的皮肤神经纤维瘤和血管瘤，伴有明显的咖啡牛奶斑。X线显示她的左肺被左胸的一个大肿块压迫，伴有肋骨缺损和脊柱侧弯。右侧颈内动脉血管造影显示在C1和C2之间有一个囊状动脉瘤。由于她胸部的肿块几乎无法进行全身麻醉插管，因此无法进行开颅夹闭动脉瘤手术。
结合文献中15例类似病例对本病例的临床特征进行了讨论。关于这种疾病有不同的理论。我们同意这些畸形不仅源于外胚层，也源于中胚层病变。就我们的病例而言，我们认为这种疾病进展缓慢。
