Rodríguez-Jadraque R, Martínez-Salio A, García de Alvaro M T, Porta-Etessam J, Torres-Mohedas J, Mateos-Beato F
Sección de Neuropediatría, Hospital 12 de Octubre, Madrid, España.
Rev Neurol. 2000;31(11):1043-5.
Neurofibromatosis type I may be accompanied by cerebrovascular complications, mainly stenosis or aneurysms and more rarely vertebral arteriovenous fistulas and malformations. We report the first case of a child, as far as we know, with neurofibromatosis type I and subarachnoid hemorrhage caused by rupture of an arteriovenous malformation.
A 9 year old girl presented with the acute onset of a condition preceded by vomiting, deterioration in her level of consciousness and neck rigidity caused by subarachnoid and intraventricular hemorrhage. On angiography a right interpeduncular arteriovenous malformation was seen which arose from the right anterior choroid artery. The patient was admitted to the intensive care unit for stabilization of her condition, followed by surgical operation and good subsequent progress.
We review the cerebrovascular complications associated with neurofibromatosis type I that have been described in the literature. Neurofibromatosis type I may be associated with cerebrovascular complications. The most frequent of these are occlusive or stenotic, isolated or with a vascular pattern of progressive cerebral artery occlusive disease of moyamoya type and aneurysms. Other rarer cerebrovascular complications include fistulas and arteriovenous malformations. The patient we report is the first case of vascular malformation in children associated with neurofibromatosis type I as far as we are aware.
I型神经纤维瘤病可能伴有脑血管并发症，主要为狭窄或动脉瘤，较少见的有椎动脉动静脉瘘和畸形。据我们所知，我们报告了首例患有I型神经纤维瘤病且因动静脉畸形破裂导致蛛网膜下腔出血的儿童病例。
一名9岁女孩因蛛网膜下腔和脑室内出血出现呕吐、意识水平下降和颈部强直等症状后急性起病。血管造影显示右侧脚间池动静脉畸形，起源于右侧脉络膜前动脉。患者被收入重症监护病房以稳定病情，随后接受手术，术后恢复良好。
我们回顾了文献中描述的与I型神经纤维瘤病相关的脑血管并发症。I型神经纤维瘤病可能与脑血管并发症相关。其中最常见的是闭塞性或狭窄性病变，可为孤立性或伴有烟雾病类型的进行性大脑动脉闭塞性疾病的血管模式以及动脉瘤。其他较罕见的脑血管并发症包括瘘和动静脉畸形。据我们所知，我们报告的患者是首例与I型神经纤维瘤病相关的儿童血管畸形病例。
