Piovesan E J, Scola R H, Werneck L C, Zétola V H, Nóvak E M, Iwamoto F M, Piovesan L M
Internal Medicine Department, Hospital de Clinicas of Federal University of Parana, Brasil.
Arq Neuropsiquiatr. 1999 Jun;57(2B):484-8. doi: 10.1590/s0004-282x1999000300022.
Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.
1型神经纤维瘤病（NF1）几乎可累及任何器官，最常见的表现是“牛奶咖啡斑”和神经纤维瘤。血管病变是NF1已知的并发症，但脑血管疾病较为罕见。我们报告一例51岁男性患者，入院前4个月有中风病史。体格检查发现他有多处“牛奶咖啡斑”和皮肤神经纤维瘤。神经系统检查显示右侧面瘫、右侧偏瘫和失语。头颅计算机断层扫描显示基底节和半卵圆中心有低密度区。颅骨和颈椎X线片显示颅底凹陷。血管造影显示双侧椎动脉和左侧颈内动脉完全闭塞，右侧颈内动脉部分狭窄。存在一个大的侧支血管网络（烟雾病综合征）。这是一例与NF1相关的闭塞性脑血管疾病的罕见病例，因为文献中描述的大多数病例发生在年轻人中，且往往不累及大脑后循环。与该病例相关的颅底凹陷可能被认为是纯粹的巧合，但也有罕见的颅底凹陷与NF1相关的病例报道。
