遗传性弥漫性白质脑病合并轴索球样变的临床和影像学特点(附1例报告)  

The features of clinical and imaging of Hereditary diffuse leukoencephalopathy with axonal spheroids(attach one case report)

作　　者：于晓攀 崔荣荣[1] 孙静[1] 刘潇[1] 李福锦[2] 周畅[1] 

机构地区：[1]青岛大学附属医院神经内科,266071 [2]安丘市中医院急诊ICU

出　　处：《临床神经病学杂志》2017年第6期464-467,共4页Journal of Clinical Neurology

基　　金：山东省自然科学基金(ZR2014HM064)

摘　　要：目的探讨遗传性弥漫性白质脑病合并轴索球样变(HDLS)的临床和影像学特点。方法对1例HDLS患者的临床资料进行回顾性分析。结果本例患者为中年男性,表现为快速进展的运动功能障碍、行为及认知改变,头颅MRI表现为双侧额颞叶白质病变、DWI像双侧脑室旁多发点状高信号。基因检测结果显示,集落刺激因子1受体基因突变。患者儿子检测到相同突变基因,尚未表现出相应临床症状。结论 HDLS为罕见疾病,临床表现多样,影像学无特异性,临床医师缺乏认识,容易误诊,遗传学检测是诊断的首选方法。Objective To investigate the clinical and imaging features of hereditary diffuse leukoencephalopathy with axonal spheroids（ HDLS）. Methods The clinical data of one cases of HDLS was retrospectively analyzed.Results The proband was middle-aged man,presented rapidly progressive motor dysfunction,behavioral and cognitive changes. Brain MRI showed bilateral fronto-temporal white matter lesions,multifocal high signal in bilateral periventricular in diffuse weight imaging. DNA analysis disclosed a mutation in exon 18 of the colony stimulating factor 1 receptor. Conclusion HDLS is an rare disease with diverse clinical manifestations and no imaging specificity. Clinicians lack knowledge and are prone to misdiagnosis. Genetic testing is the preferred method of diagnosis.

关 键 词：遗传性弥漫性白质脑病合并轴索球样变 集落刺激因子1受体 帕金森综合征 额颞叶痴呆 脑白质病变 

分 类 号：R742[医药卫生—神经病学与精神病学]