酷似脱髓鞘疾病的CADASIL病例报告
发布时间:2018-10-16 19:11
【摘要】:正伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种非动脉硬化性、非淀粉样变的常染色体显性遗传性脑小血管疾病,是由于19号染色体上Notch3基因发生突变所致~([1])。影像学上常表现为多发皮质下梗死灶及侧脑室旁白质多发斑点状异常信号,且起病时临床症状往往较轻,极易误诊。现将我科收治的1例误诊为脱髓鞘疾病的CADASIL病例报道如下。
[Abstract]:Autosomal dominant cerebral arteriopathy (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL) with subcortical infarction and leukoencephalopathy is a non-arteriosclerotic, non-amyloid, autosomal dominant cerebral microvascular disease. Imaging findings often show multiple subcortical infarction and multiple abnormal signals in the white matter of lateral ventricle, and the clinical symptoms are usually mild when the disease starts, so it is easy to be misdiagnosed. A case of CADASIL misdiagnosed as demyelinating disease in our department is reported as follows.
【作者单位】: 吉林大学白求恩第一医院神经内科和神经科学中心;
【基金】:吉林大学优秀青年教师培养计划支持(项目号419080500582)
【分类号】:R743
[Abstract]:Autosomal dominant cerebral arteriopathy (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL) with subcortical infarction and leukoencephalopathy is a non-arteriosclerotic, non-amyloid, autosomal dominant cerebral microvascular disease. Imaging findings often show multiple subcortical infarction and multiple abnormal signals in the white matter of lateral ventricle, and the clinical symptoms are usually mild when the disease starts, so it is easy to be misdiagnosed. A case of CADASIL misdiagnosed as demyelinating disease in our department is reported as follows.
【作者单位】: 吉林大学白求恩第一医院神经内科和神经科学中心;
【基金】:吉林大学优秀青年教师培养计划支持(项目号419080500582)
【分类号】:R743
【参考文献】
相关期刊论文 前3条
1 黄立;杨期东;陈璇;马明明;袁梅;黄清;曾凤;;西洛他唑治疗CADASIL临床研究[J];中风与神经疾病杂志;2010年03期
2 张巍;刘e,
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