Reid Amy J, Bhattacharjee Meenakshi B, Regalado Ellen S, Milewicz Allen L, El-Hakam Lisa M, Dauser Robert C, Milewicz Dianna M
Department of Internal Medicine, University of Texas Health Science Center, Houston, Texas 77030, USA
J Neurosurg Pediatr. 2010 Sep;6(3):244-9. doi: 10.3171/2010.5.PEDS09505.
Moyamoya disease is a rare stroke syndrome of unknown etiology resulting from stenosis or occlusion of the supraclinoid internal carotid artery (ICA) in association with an abnormal vascular network in the basal ganglia. Although the highest incidence of moyamoya disease is in pediatric patients, pathology reports have been primarily limited to adult samples and describe occlusive fibrocellular lesions in the intimae of affected arteries. We describe the case of a young girl with primary moyamoya disease who presented at 18 months of age with right hemiparesis following an ischemic stroke. Angiography showed stenosis of the distal left ICA, left middle cerebral artery, and right ICA. An emergent left-sided dural inversion was performed. Recurrent strokes and alternating hemiplegia necessitated a right dural inversion 6 months later. Nonetheless, her aggressive disease proved uniquely refractory to surgical revascularization, and she succumbed to recurrent strokes and neurological deterioration at 2.5 years of age. Pathological specimens revealed a striking bilateral occlusion of the anterior carotid circulation resulting from intimal proliferation of smooth muscle cells (SMCs). Most strikingly, the ascending aorta and the superior mesenteric artery demonstrated similar intimal proliferation, along with SMC proliferation in the media. The systemic pathology involving multiple arteries in this extremely young child, the first case of its kind available for autopsy, suggests that globally uncontrolled SMC proliferation, in the absence of environmental risk factors and likely resulting from an underlying genetic alteration, may be a primary etiologic event leading to moyamoya disease.
烟雾病是一种病因不明的罕见中风综合征，由床突上段颈内动脉（ICA）狭窄或闭塞并伴有基底节区异常血管网所致。尽管烟雾病在儿科患者中的发病率最高，但病理报告主要限于成人样本，且描述的是受累动脉内膜的闭塞性纤维细胞病变。我们描述了一名原发性烟雾病的年轻女孩病例，她18个月大时因缺血性中风出现右侧偏瘫。血管造影显示左侧ICA远端、左侧大脑中动脉和右侧ICA狭窄。急诊进行了左侧硬脑膜翻转术。复发性中风和交替性偏瘫使得6个月后又进行了右侧硬脑膜翻转术。尽管如此，她的侵袭性疾病对手术血管重建具有独特的难治性，最终在2.5岁时死于复发性中风和神经功能恶化。病理标本显示，由于平滑肌细胞（SMC）内膜增生，双侧颈前循环出现显著闭塞。最引人注目的是，升主动脉和肠系膜上动脉也表现出类似的内膜增生，同时中膜也有SMC增生。在这个极年幼的儿童中出现累及多条动脉的全身性病理改变，这是首例可供尸检的此类病例，表明在没有环境危险因素且可能由潜在基因改变导致的情况下，全球范围内不受控制的SMC增生可能是导致烟雾病的主要病因事件。
