1例表现为认知功能减退的 COL4A1基因突变相关脑小血管病病例报道
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R743.3

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川北医学院2023年度校级科研发展计划项目(CBY23-ZDA02重点培育项目,自然科学类); 南充市2023年市级科技研发计划专项资金(23YYJCYJ0138);


A case report of COL4A1 gene mutation related cerebral small vessel disease with cognitive impairment
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    摘要:

    <正>1病例资料患者,女,57岁,两年前出现肢体无力,平路行走时出现跌倒,之后跌倒越来越频繁;入院半年前开始出现反应变慢,性格由开朗逐渐发展为少言少语伴傻笑。入院1个月前,除了跌倒、傻笑增多外,还出现了坐立不稳,偶有饮水呛咳,病程中无头痛头晕、肢体抽搐及视力障碍。既往否认高血压史、糖尿病史;否认脑血管疾病史、遗传史、精神疾病史;否认手术史、外伤史。查体:生命体征平稳。

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    < positive >1 case data the patient, a 57 year old female, presented with limb weakness two years ago and fell while walking on the flat road, and then fell more and more frequently; Half a year before admission, he began to react slowly, and his personality gradually developed from cheerful to less talkative with a giggle. One month before admission, in addition to falling and giggling, he also had unstable sitting and standing, occasionally choking and coughing with drinking water, and there was no headache, dizziness, limb twitching and visual impairment during the course of the disease. Denied the history of hypertension and diabetes in the past; Deny the history of cerebrovascular disease, genetic history and mental disease; Denied the history of surgery and trauma. Physical examination: vital signs were stable.

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熊程;张小东;.1例表现为认知功能减退的 COL4A1基因突变相关脑小血管病病例报道[J].川北医学院学报,2025,40(2):257-259.

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  • 在线发布日期: 2025-07-24
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