摘要
目的:探讨儿童Joubert综合征临床表现、影像学特点以及基因学研究进展,以提高对本病的认识。方法:回顾性分析14例Joubert综合征的临床资料及影像学表现,其中男9例,女5例,年龄3个月~17岁,平均6岁。14例患儿均有不同程度的智力和运动发育滞后于同龄儿,肌张力减退,共济失调。所有病例均行MRI检查,其中2例胎儿期有MRI检查。结果:14例头颅MRI平扫均具有以下特征性表现:①小脑半球“中线裂征”:表现为小脑蚓部发育不全,双侧小脑半球间线样裂隙脑脊液信号;②“磨牙征”:表现为小脑上脚延长并增厚,脑干发育异常,轴位上双侧小脑上脚与中脑交接处呈“磨牙”改变;③四脑室扩大,呈“蝙蝠翼状”。其他还有脑室系统不同程度扩大7例,胼胝体完全缺如1例,腺垂体发育不良1例。2例有胎儿期MRI检查中1例误诊为Dandy-Walker综合征,1例诊断准确。结论:Joubert综合征有特征性的MRI表现,结合临床可以确诊:“磨牙征”是胎儿MRI检查诊断本病的基础影像学表现,对进一步探索致病基因、发现预防出生缺陷有着重要指导意义。
Purpose:To explore the clinical manifestations,imaging features and genetic research progress of Joubert Syndrome in children in order to improve the knowledge of this disease.Methods:The clinical data and imaging findings of 14 cases of Joubert syndrome were collected.The cases included 9 boys and 5 girls,age ranged from 3 months to 17 years,with median age 6 years old.Clinical manifestations showed that all the patients were with low intelligent,their development of intelligence and motor was lagging behind their peers,as well as hypotonia and ataxia.Results:The MRI features of the brain included:(a)"Center-line crack"of the cerebellum hemisphere:it was characterized by partial hypoplasia of cerebellar vermis and linear fssures between bilateral cerebellar hemispheres.(b)The"molar tooth sign":it was characterized by prolongation and thickening of the upper cerebellar foot,abnormal brainstem development,and"molar"changes at the junction of the bilateral upper cerebellar foot and the midbrain on the axis.(C)The"bat-wing"of enlarged fourth ventricle.The ventricle systems were expanded in 7 cases,1 case was with corpus callosum completely absence,and I case was with pituitary dysplasia.Two cases were confirmed postnatally,one case was misdiagnosed as Dandy-Walker syndrome in fetal period,and one case was diagnosed accurately.Conclusion:Joubert syndrome has characteristic MRI manifestations,combined with clinical manifestations,the definite diagnosis could be made."Molar tooth sign"is the basic feature for diagnosis of Joubert syndrome in fetal MRI.It is helpful to further explore the pathogenic genes and prevent birth defets.
作者
朱芳梅
王宇军
杨光钊
邓水堂
钟玉敏
周莺
ZHU Fang-mei;WANG Yu-jun;YANG Guang-zhao;DENG Shui-tang;ZHONG Yu-min;ZHOU Ying(Department of Radiology,Tongde Hospital of Zhejiang Province;Department of Radiology,Shanghai Children's Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,P.R.C.)
出处
《中国医学计算机成像杂志》
CSCD
北大核心
2020年第3期281-285,共5页
Chinese Computed Medical Imaging
基金
浙江省医药卫生科技计划项目(项目号:2019319609)。
作者简介
通信作者:周莺,(电子邮箱:scmczhouying@163.com)。
