结节性硬化症神经系统病变影像学特征及误漏诊原因分析  

Imaging Features and Cause Analysis of Misdiagnosis and Missed Diagnosis of Central Nervous System Disorders in Patients with Tuberous Sclerosis Complex

作　　者：徐文睿[1] 王俊[2] 陈蓉蓉[3] 张玉石[4] 张宏冰[3] 徐凯峰[2] 张伟宏[1] XU Wcn-rui WANG Jun CHEN Rong-rong ZHANG Yu-shi ZHANG Hong-bing XU Kai-feng ZHANG Wei- hong(Department of Radiology Department of Respiratory Diseases Department of Urinary Sorgery,Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences, Beijing 100730, China School of Basic Medicine of Peking Union Medical College Institute of Basic Medical Sciences of Chinese Academy of Medical Sciences, Beijing 100005, China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院放射科,北京100730 [2]中国医学科学院北京协和医学院北京协和医院呼吸科,北京100730 [3]中国医学科学院基础医学研究所北京协和医学院基础学院,北京100005 [4]中国医学科学院北京协和医学院北京协和医院泌尿外科,北京100730

出　　处：《临床误诊误治》2016年第10期7-12,1,共6页Clinical Misdiagnosis & Mistherapy

基　　金：国家自然科学基金资助项目(81271545)

摘　　要：目的分析结节性硬化症(tuberous sclerosis complex,TSC)神经系统病变的影像学特征及误漏诊原因,以提高诊断准确性。方法回顾性分析2012年7月—2016年2月北京协和医院诊治的50例TSC患者临床资料,重点分析合并皮质发育不良(cortical dysplasia,CD)、室管膜下结节(subependymal nodule,SEN)及室管膜下巨细胞星形细胞瘤(subependymal giant cell astrocytoma,SEGA)患者的影像学特征。结果 39例行头颅MRI平扫,6例行MRI平扫及增强扫描,5例行MRI及CT平扫。结果提示:150例均发现皮质结节,共962处病灶,以额顶叶居多。表现为大脑皮质及皮质下结节样异常信号,T1WI呈等信号,T2WI呈稍高信号,液体衰减翻转恢复像(T2-FLAIR)呈高信号;部分结节伴脑白质放射状移行线。249例SEN,共354处病灶,位于双侧侧脑室室管膜下,沿尾状核走行;T1WI呈稍高信号,T2WI呈稍低信号,T2-FLAIR呈稍高信号;伴有钙化结节者T1WI呈高信号,T2WI呈低信号,T2-FLAIR呈低信号伴周边环状高信号。33例SEGA,共4处病灶,位于侧脑室孟氏孔区;T1WI呈等信号,T2WI呈稍高信号,增强扫描呈明显强化。此外,11例出现脑白质内多发软化灶。本组1例误诊为灰质异位,1例因少量CD及SEN而漏诊。结论对于影像学表现不典型的TSC,MRI结合CT检查有助于神经系统病变的检出。同时,临床医师应密切结合患者其他系统病变及基因检测结果,提高TSC的诊断准确率。Objective To analyze imaging features and causes of misdiagnosis and missed diagnosis of patients with tuberous sclerosis complex （TSC） in order to improve diagnostic accuracy of central nervous system （CNS） disorders. Methods Clinical data of 50 TSC patients between July 2012 and February 2016 was retrospectively analyzed, and cortical dysplasia （CD）, subependymal nodule （SEN） and subependymal giant cell astrocytoma （SEGA） were mainly analyzed. Results Magnetic resonance imaging（MRI） examination was performed in 39 TSC patients, contrast enhanced and plain scan MRI were performed in 6 patients, and MRI and plain CT scan were performed in 5 patients. （1） Cortical nodes were found in 50 patients with 962 lesions, which predominantly located in frontal and parietal lobes. Cortical and subcortical tubers showed ab- normal signal, isointensity on T1WI, slightly hyperintense signal on T2WI and hyperintense signal on T2-FLAIR （fluid attenuated inversion recovery sequence）. Part of tubers was accompanied by radiation migration lines of cerebral white matter. （2） A total of 354 SENs lesions were observed in 49 patients, which located in bilateral ependymal lining of lateral ventricles along the caudate nucleus. SENs demonstrated slightly hyperintense signal on T1WI, slightly hypointensity signal on T2WI and slightly hyperintense signal on T2-FLAIR. Calcified SENs showed hyperintense signal on T1WI, hypointensity signal on T2WI and central hypointensity signal accompanied by peripheral ring-shaped hyperintense signal on T2-FLA1R. （3） Only 4 SEGAs lesions were observed in 3 patients, which located at foramen of Monro. SEGAs showed isointensity signal on T1WI and slightly hyperintense signal on T2WI with significant enhancement after enhancement scanning. In addition, multiple encephalomalacia lesions were observed in 11 patients. Among the 50 patients, 1 patient was misdiagnosed as having gray matter heterotopia, and 1 patient was missed diagnosis as having subtle CD and SEN. Conclus

关 键 词：结节性硬化症 皮质发育畸形 星形细胞瘤 误诊 灰质异位 影像学特征 

分 类 号：R445.2[医药卫生—影像医学与核医学] R596.1[医药卫生—诊断学] R747.9[医药卫生—临床医学]