Schrager G O, Cohen S J, Vigman M P
Pediatrics. 1977 Jul;60(1):33-7.
We are reporting what we believe to be the first case of moya moya disease (hemiplegia associated with supraclinoid carotid stenosis and multiple cerebral telangiectasia) in a child with Down's syndrome. On cerebral angiography, multiple collateral vessels and rete mirabile (anastomosis of meningeal vessels with internal cerebral vessels) were noted, in addition to the supraclinoid carotid stenosis. Computerized tomography revealed nonobstructive hydrocephalus and findings consistent with multiple vascular insults or infarcts. It is not clear whether moya moya disease represents a true disease entity (congenital arterial dysplasia) or is a syndrome caused by nonspecific vascular reaction. Since abnormal vascular morphology has previously been described in children with trisomy 21, we suggest that the presence of these two disease entities may not be coincidental. It may represent a genetic predisposition in Down's syndrome toward vascular abnormalities, with variable expressivity which manifested itself in this case by abnormalities in the cerebral circulation.
我们报告了我们认为是第一例患有唐氏综合征的儿童患烟雾病（与鞍上颈动脉狭窄和多发性脑毛细血管扩张相关的偏瘫）的病例。脑血管造影显示，除了鞍上颈动脉狭窄外，还发现了多条侧支血管和异常血管网（脑膜血管与脑内血管的吻合）。计算机断层扫描显示非梗阻性脑积水以及与多发性血管损伤或梗死相符的表现。目前尚不清楚烟雾病是代表一种真正的疾病实体（先天性动脉发育异常）还是由非特异性血管反应引起的综合征。由于先前已在21三体综合征患儿中描述过异常血管形态，我们认为这两种疾病实体的存在可能并非巧合。它可能代表唐氏综合征患者对血管异常的遗传易感性，具有可变的表达性，在本病例中表现为脑循环异常。
