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CADASIL 1例报告

CADASIL 1 Example Report
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摘要 患者女,53岁,因“反应迟钝、言语含糊半年”入院;8月前曾因口角歪斜伴言语模糊入院,行头颅MR示右侧基底节-放射冠区急性脑梗死,双侧侧脑室周围脱髓鞘病变,拟急性脑梗死予以治疗,症状无明显改善;1月前复查MR示脱髓鞘病变范围较前增大,反应迟钝较前加重。既往有糖尿病史3年,无明确家族史。查体:记忆力、计算力下降,双侧咽反射减弱,双侧腱反射减弱。实验室检查:同型半胱氨酸14.5umol/l,抗中性粒细胞浆抗体(pANCA、cANCA)阴性,脑脊液寡克隆区阴性。头颅MR示:桥脑、左侧丘脑、双侧基底区-放射冠区、外囊、双侧颞极多发斑点、小片状长或等T1、长T2信号影,压水序列上部分呈高信号,部分呈低信号。脑干右份新发条片状稍长T2信号影,边界不清;增强扫描未见异常强化灶;双侧脑室增宽,各脑沟、裂稍增宽。结论:双侧侧脑室旁、双侧颞极、外囊、脑干右份脱髓鞘病变;桥脑、左侧丘脑、双侧基底节区-放射冠区多发软化灶及腔梗灶;弥漫性脑萎缩。
作者 朱春潘 陈奕晴 梁治平 步军 ZHU Chun-pan;CHEN Yi-qing;LIANG Zhi-ping;BU Jun(Department of Radiology,Guangzhou Red Cross Hospital,Guangzhou Red Cross Hospital Of Jinan University,Guangzhou 510220,Guangdong Province)
出处 《罕少疾病杂志》 2024年第3期8-8,共1页 Journal of Rare and Uncommon Diseases
关键词 脑血管病 NOTCH3基因 磁共振成像 Cerebrovascular Disease Notch3 Gene MRI Imaging
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