论文部分内容阅读
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 investigate the clinical features and diagnostic methods of patients with subcortical infarcts and leukoencephalopathy associated with cerebella vessecretory cerebral artery disease (CADASIL). Methods One case of CADASIL patients and their relatives were studied systematically in terms of their clinical manifestations, imaging features (MRI, CT) and gene changes. Muscle and nerve biopsies were also targeted. Results The clinical manifestations of the patients were memory loss and stroke. MRI and CT showed multiple infarcts and white matter degeneration. Brain biopsies showed small vessel glass-like changes and osmiophilic granules. Missense mutation of NOTCH3 exon 4 As well as a clear family history, no hypertension, arteriosclerosis, it meets CADASIL diagnostic criteria. Conclusions The disease can be diagnosed in life through clinical features, imaging changes, genetic testing and skin biopsy.