儿童遗传代谢性脑病DWI序列的影像特征  

Brain Imaging Characteristics of DWI Sequence in Children with Inherited Metabolic Diseases

作　　者：靳瑞娟 黄锦钊 汪建华[1] 陈传明[1] 李福彰[1] 靳秀丽 JIN Rui-Juan;HUANG Jin-zhao;WANG Jian-hua;CHEN Chuan-ming;LI Fu-zhang;JIN Xiu-li(Department of Radiology,Zhongshan BOAI Hospital Affiliated to Southern Medical University,Zhongshan 528400,Guangdong Province,China;Department of Radiology,Guangzhou Development District Hospital,Guangzhou 510730,Guangdong Province,China)

机构地区：[1]南方医科大学附属中山市博爱医院,中山市妇女儿童医院影像科,广东中山528403 [2]广州开发区医院影像科,广东广州510730

出　　处：《罕少疾病杂志》2021年第2期18-21,共4页Journal of Rare and Uncommon Diseases

基　　金：广东中山市2019年度社会公益科技研究项目(2019B1085)。

摘　　要：目的总结儿童遗传代谢性脑病的磁共振扩散加权序列(DWI)的影像特征。方法回顾分析16例经临床及染色体检查确诊的儿童遗传代谢性脑病的MRI资料,记录其患病部位及信号特点。结果线粒体脑肌病(MELAS综合征)8例:急性期病灶DWI高信号,其中1例呈对称性病变。肾上腺脑白质营养不良(ALD)3例:双侧侧脑室后角白质蝶翼样信号异常,花边样强化,病灶部分扩散受限。海绵状脑白质营养不良(CD)1例:双侧脑白质弥漫水肿,T2WI信号增高,双侧丘脑及基底节区也信号增高,上述部位DWI序列均显示稍高信号。戊二酸尿症Ⅰ型(GA-1)1例及Menkes病(MD)1例:除了对称性病变,还有髓鞘发育落后及慢性硬膜下血肿。枫糖尿病(MSUD)2例:新生儿期发病,髓鞘部位见明显高信号。结论急性期病灶DWI序列扩散受限的儿童遗传代谢性脑病种类较多,以双侧对称性分布为特征,DWI信号改变随病程而变化,DWI结合受累部位对鉴别诊断有重要价值。Objective To summarize the imaging features of magnetic resonance diffusion-weighted sequence(DWI)in children with genetic metabolic encephalopathy.Methods The MRI data of 16 children with genetic metabolic encephalopathy confirmed by clinical and chromosome examination were retrospectively analyzed,and the location and signal characteristics of the disease were recorded.Results 8 cases of mitochondrial encephalomyopathy(MELAS syndrome)showed high DWI signal in acute stage lesions,1 of which presented symmetrical lesions.3 cases of adrenal leukodystrophy(ALD):The lesions were abnormal white matter located in the trigone of the bilateral lateral ventricle.The lesions were like a butterfly wing,and part of them showed high signal in DWI,and signal abnormality demonstrates a"leading edge"in enhancement.One case of Canavan disease(CD):There was extensive edema of bilateral white matter,the signal of T2WI was increased,the signal of bilateral thalamus and basal ganglia was also increased.The DWI sequence of the above parts showed a slightly higher signal.One case of glutaric acidemia typeⅠ(GA-1)and 1 case of Menkes disease(MD):In addition to the symmetrical lesions,there are underdeveloped myelin development and chronic subdural hematoma.2 cases of maple syrup urine disease(MSUD):All the 2 cases were onset of neonatal stage,the myelin sheath region showed significantly high signal in DWI.Conclusion There are many kinds of genetic metabolic encephalopathy in children with limited diffusion of DWI sequence in the acute stage,which is characterized by bilateral symmetrical distribution,the changes of DWI signal vary with the course of the disease,the combination of DWI and affected parts are of great value in the differential diagnosis.

关 键 词：遗传代谢性脑病 磁共振 扩散加权成像 

分 类 号：R725.8[医药卫生—儿科] R445.2[医药卫生—临床医学]