伴有皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(附一家系临床及治疗观察)

Cerebral Autosomal Dominat Arteriopathy with Subcortical Infarcts and Leukoencep-halopathy

目的:探讨伴有皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)患者的临床特征、影像学特点及基因诊断。方法:调查先证者及其家族的发病情况及遗传方式,对其临床表现、影像学特征、分子遗传学及治疗等方面进行研究。结果:患者均有记忆力减退、乏力、脑卒中样发作等特点,头颅CT、MRI检查可见多发性梗死灶、脑白质变性,有家族聚集性,没有高血压、动脉硬化,符合CADASIL的临床诊断。基因测序显示Notch3基因第3、4号外显子突变。全家系5代已有4代14人呈临床或亚临床发病,符合常染色体显性遗传。患者经活血化瘀、改善微循环、保护脑细胞治疗,症状略有缓解。结论:该家系的临床、影像及分子遗传学特征符合CADASIL诊断标准。本病病理特点目前尚无法改变,但积极地改善脑供血、保护脑细胞治疗似可改善肢体肌力,改善生活质量。

Objective：To investigate the clinical features, neuroimaging characteristics and molecular genetics diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoenee - phalopathy（CADASIL ）. Methods：A systematic study on the clinical manifestations, neuroimaging characteristics, therapeutic measure and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family tree of the proband was also done. Results： The main clinical features including poor memory and history of stroke were found. Neuroimaging examination showed muhiinfaret lesions and leukoencephalopathy. A family history was confirmed. And no risk factors of hypertension and arteriosclerosis were found. All these features arein conformity with those of CADASIL. 14 cases pertaining to 5 generations of the proband with clinical or subclinical onset and confirmed classical family history of autosomal dominant hereditary were studied. A mutation on the third and fourth exon of notch 3 gene was revealed. Symptomatic relief via the improving of the cerebral circulation and the protecting of brain cell. Conclusion ： It is prossible to define CADASIL clinically by way of studying the clinical features , hereditary pattern, neuroimaging characteristics and sequencing of gene.The myodynamia and quality of life can be improved by improving the cerebral circulation and protecting the brain cell.