【摘要】：正伴有皮質(zhì)下梗死和白質(zhì)腦病的常染色體顯性遺傳性腦動(dòng)脈病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一種非動(dòng)脈硬化性、非淀粉樣變的常染色體顯性遺傳性腦小血管疾病,是由于19號(hào)染色體上Notch3基因發(fā)生突變所致~([1])。影像學(xué)上常表現(xiàn)為多發(fā)皮質(zhì)下梗死灶及側(cè)腦室旁白質(zhì)多發(fā)斑點(diǎn)狀異常信號(hào),且起病時(shí)臨床癥狀往往較輕,極易誤診�，F(xiàn)將我科收治的1例誤診為脫髓鞘疾病的CADASIL病例報(bào)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.
【作者單位】： 吉林大學(xué)白求恩第一醫(yī)院神經(jīng)內(nèi)科和神經(jīng)科學(xué)中心;
【基金】：吉林大學(xué)優(yōu)秀青年教師培養(yǎng)計(jì)劃支持(項(xiàng)目號(hào)419080500582)
【分類(lèi)號(hào)】：R743

【參考文獻(xiàn)】

相關(guān)期刊論文 前3條

1 黃立;楊期東;陳璇;馬明明;袁梅;黃清;曾鳳;;西洛他唑治療CADASIL臨床研究[J];中風(fēng)與神經(jīng)疾病雜志;2010年03期

2 張巍;劉e，

本文編號(hào)：2275363