儿童白质消融性白质脑病的临床和MRI表现  

Clinical and MRI Features in Children with Vanishing White Matter Disease

作　　者：徐化凤[1] 管红梅[1] 郭虎[2] 金波[2] 张新荣[1] 高修成[1] XU Hua-feng;GUAN Hong-mei;GUO Hu;JIN Bo;ZHANG Xin-rong;GAO Xiu-cheng(Department of Radiology,Nanjing Children's Hospital,Nanjing Medical University;Department of Neurology,Nanjing Children's Hospital,Nanjing Medical University)

机构地区：[1]南京医科大学附属儿童医院放射科 [2]南京医科大学附属儿童医院神经内科

出　　处：《中国医学计算机成像杂志》2019年第6期559-563,共5页Chinese Computed Medical Imaging

摘　　要：目的:总结并探讨儿童白质消融性白质脑病(VWM)的临床和MRI表现特点。方法:回顾性分析3例经基因突变分析确诊VWM患儿的临床情况和MRI表现特点,并复习相关文献。结果:3例发病前及病情加重前均有呼吸道感染史;运动、语言发育均较同龄人落后,以运动障碍较智力障碍重为特征;头颅MRI表现为双侧深部及皮质下脑白质弥漫性长T1、长T2信号,Flair为高信号或病灶中心部分可见多发小囊状低信号,DWI为高信号,病变可累及胼胝体、内囊、外囊、脑干及小脑;1例脊髓MRI表现为双侧脊髓对称长T1、长T2信号,累及全脊髓;半年后随访病变范围向周围渐进性扩展。结论:以运动障碍重于智力障碍为临床特点,以双侧脑白质弥漫性对称性长T1、长T2信号为MRI表现特点,基因突变分析可最终确诊VWM。Purpose:To summarize and investigate the clinical and MR features in children with vanishing white matter disease(VWM).Methods:The clinical and MR features of 3 children diagnosed as VWM by genetic mutation test were analyzed retrospectively,and the relevant literature was reviewed.Results:All 3 patients had a history of respiratory infection before the onset of the disease and the aggravation of the disease;Movement and language development of them were more backward than their peers,and their movement disorder were more serious than intellectual disorders.Brain MRI showed diffuse long T1 and long T2 signals in the deep part of both sides and subcortical white matter.FLAIR sequence showed hyperintensity or multiple cystic low intensity signals in the central part of the lesion,DWI showed hyperintensity.The lesions involved corpus callosum,internal capsule,external capsule,brain stem and cerebellum.MRI of the spinal cord in 1 case showed bilateral symmetric long T1 and long T2 signals involving the whole spinal cord.After half a year follow-up,the lesion gradually expanded to the surrounding areas.Conclusion:The clinical features of VWM show movement disorder more serious than intellectual disorders,the MR features of VWM show diffuse and symmetrical abnormal long T1 and long T2 signal in cerebral white matter.VWM can be confirmed by genetic mutation test.

关 键 词：白质消融性白质脑病 磁共振成像 

分 类 号：R445.2[医药卫生—影像医学与核医学]