Department of Neurology, The Hospital for Sick Children, Toronto, Canada.
Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada.
Pediatr Neurol. 2019 Feb;91:11-19. doi: 10.1016/j.pediatrneurol.2018.10.006. Epub 2018 Oct 15.
Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic "puff of smoke" appearance. Moyamoya confers a lifelong risk of stroke and neurological demise, with peak age of presentation in childhood ranging between five and 10 years. Moyamoya disease refers to patients who do not have a comorbid condition, whereas moyamoya syndrome refers to patients in whom moyamoya occurs in association with an acquired or inherited disorder such as sickle cell disease, neurofibromatosis type-1 or trisomy 21. The incidence of moyamoya disease and moyamoya syndrome demonstrates geographic and ethnic variation, with a predominance of moyamoya disease in East-Asian populations. Antiplatelet therapy and surgical revascularization procedures are the mainstay of management, as there are no available treatments to slow the progression of the arteriopathy. Future research is required to address the major gaps that remain in our understanding of the pathologic basis, optimal timing for surgery, and determinants of outcome in this high-stroke risk condition of childhood.
烟雾病是一种慢性进行性狭窄闭塞性血管病，通常影响 Willis 环的前循环动脉。为了绕过闭塞，深穿通支和纹状体动脉会形成侧支循环，从而导致特征性的血管造影“烟雾状”外观。烟雾病会导致终身中风和神经功能丧失的风险，发病的高峰年龄在 5 至 10 岁之间。烟雾病是指没有合并症的患者，而烟雾病综合征是指烟雾病发生在镰状细胞病、神经纤维瘤病 1 型或 21 三体等获得性或遗传性疾病的患者中。烟雾病和烟雾病综合征的发病率存在地域和种族差异，东亚人群中烟雾病更为常见。抗血小板治疗和手术血运重建是主要的治疗方法，因为目前尚无治疗方法可以减缓血管病变的进展。未来需要研究来解决我们在病理基础、手术最佳时机以及这种高中风风险儿童疾病结局决定因素方面的理解方面存在的主要差距。
