摘要
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 (cerebralautosomedominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy ,CADASIL)患者的临床特点和诊断方法。方法 对 1例CADASIL患者及其亲属的临床表现、影像学 (MRI、CT)特点及基因改变等方面进行了系统研究 ,并针对性地进行了肌肉及神经活检。结果 患者的临床表现为记忆力减退 ,有脑卒中发作 ;MRI、CT检查可见多发性梗死、脑白质变性 ;脑组织活检示小血管玻璃样变、嗜锇颗粒 ;NOTCH3第 4外显子错义突变以及明确的家族史 ,没有高血压、动脉硬化 ,故符合CADASIL的诊断标准。结论 本病通过临床特点、影像学改变、基因检测及皮肤活检 ,可在生前进行诊断。
Objective To investipate the cerebral autosomal dominat arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) through the clinical features , pathology, neuroimage, and molecular genetics as well as the family tree of a case as to exploring the diagnostic method of the disease .Methods Systematic study on the clinical manifestations, genetic site, neurologic and muscular biopsy was performed. Results The main clinical features including poor memory and history of stroke were found. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. Biopsy indicated the arteriolar hyalinosis,GOM and osmiophilic granule. A family history was confirmed. A mutation on the fourth exon of notch 3 gene was revealed. And no risk factors of hypertension and arteriosclerosis were found. All these features are in conformity with those of CADASIL.Conclusion CADAIL is not rare and is possible to be defined in vivo by way of dermal biopsy,examination of gene and neuroimage characteristics.
出处
《中华神经科杂志》
CAS
CSCD
2000年第5期272-276,共5页
Chinese Journal of Neurology
关键词
脑动脉疾病
脑白质病
进行性多病灶
脑梗塞
基因
Cerebral artery diseases
Leukoencephalopathy,progressive multifocal
Cerebral infarction
Genes