Fukui M, Kono S, Sueishi K, Ikezaki K
Department of Neurosurgery, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Neuropathology. 2000 Sep;20 Suppl:S61-4. doi: 10.1046/j.1440-1789.2000.00300.x.
Moyamoya disease is a specific chronic cerebrovascular occlusive disease first reported by Japanese surgeons in 1957. The disease is characterized by stenosis or occlusion of the terminal portions of the bilateral internal carotid arteries and abnormal vascular network in the vicinity of the arterial occlusion. It may cause ischemic attacks or cerebral infarction, which is more frequent in children than in adults. In adults, cerebral hemorrhage may occur. The disease is distributed in all age groups, but the highest peak is in childhood at less than 10 years of age. The characteristic histopathologic features of the steno-occlusive arteries are fibrocellular thickening of the intima containing proliferated smooth muscle cells and prominently tortuous and often duplicated internal elastic lamina. There is usually no atheromatous plaque in the arterial wall. Etiology of the disease is still unknown; however, multifactorial inheritance is considered possible because of a higher incidence of the disease in Japanese and Koreans and approximately 10% of familial occurrence among the Japanese. Recent genetic studies suggest some responsible genetic foci in chromosomes 3, 6 and 17.
烟雾病是一种特殊的慢性脑血管闭塞性疾病，于1957年由日本外科医生首次报道。该病的特征是双侧颈内动脉末端狭窄或闭塞，以及动脉闭塞附近的异常血管网。它可能导致缺血性发作或脑梗死，在儿童中比在成人中更常见。在成人中，可能发生脑出血。该病分布于所有年龄组，但最高峰出现在10岁以下的儿童期。狭窄闭塞动脉的特征性组织病理学特征是内膜纤维细胞增厚，含有增殖的平滑肌细胞，内弹性膜明显扭曲且常重复。动脉壁通常没有动脉粥样硬化斑块。该病的病因仍然未知；然而，由于日本人、韩国人发病率较高，且日本人中约10%有家族发病情况，因此多因素遗传被认为是可能的。最近的基因研究表明，3号、6号和17号染色体上存在一些相关的基因位点。
