Joubert综合征的MRI诊断  

MRI Diagnosis of Joubert Syndrome

作　　者：张小旭 尹义 刘雅文 杨艳萍 黄中霞 余晖 ZHANG Xiao-xu;YIN Yi;LIU Ya-wen;YANG Yan-ping;HUANG Zhong-xia;YU Hui(Department of Radiology,Affiliated Hospital of Guizhou Medical University,Guiyang 550004,Guizhou Province,China)

机构地区：[1]贵州医科大学附属医院影像科,贵州贵阳550004

出　　处：《中国CT和MRI杂志》2023年第3期62-64,共3页Chinese Journal of CT and MRI

摘　　要：目的探讨Joubert综合征的临床表现及MRI特征,以提高对本病的认识。方法回顾性分析我院经临床确诊的7例Joubert综合征患儿的临床及MRI资料,同时收集7例性别、年龄相匹配的正常儿童的MRI资料作为对照组,将两组图像对比分析,总结病患组不同于对照组的所有异常MRI表现,并于MRI横轴位上测量两组儿童的中脑峡部前后径及脚间池深度,并计算其比值。结果7例患儿均可见典型中脑“臼齿”征、“蝙蝠翼”状第四脑室、“中线裂”征,5例可见“三角形”第四脑室;其他表现包括2例枕大池扩大,1例胼胝缺如并双侧侧脑室分离、扩大,1例颞极部蛛网膜囊肿。正常对照组中脑峡部前后径与大脑脚间池深度的比值均大于1,而病患组均小于1。结论Joubert综合征MRI表现具有特征性,结合临床并参照正常儿童的MRI影像容易诊断;对于该疾病中脑发育不良的情况,有望借助中脑峡部前后径与大脑脚间池深度的比值来评价。Objective To explore the clinical manifestations,MRI features of Joubert Syndrome in children in order to improve the knowledge of this disease.Methods The clinical and MRI data of 7 clinically confirmed Joubert syndrome children in our hospital were retrospectively analyzed,and MRI data of 7 normal children with matched gender and age were collected as the control group.The images of the two groups were compared and analyzed to summarize all abnormal MRI findings in the patient group that were different from the control group.The anteroposterior diameter of the middle cerebral isthmus and the depth of interpeduncular cistern were measured on the horizontal axis of MRI,and their ratios were calculated.Results All 7 cases had typical“molar tooth sign”,“bat-wing”fourth ventricle and“midline cleft sign”,5 cases had the"triangular"fourth ventricle;Other findings included occipital cistern enlargement in 2 cases,agenesis of corpus callosum in 1 case with bilateral lateral ventricle separation and enlargement,and arachnoid cyst in 1 case at temporal pole.The ratio of the anteroposterior diameter of the middle cerebral isthmus and the depth of interpeduncular cistern was greater than 1 in the normal group,but less than 1 in the patients.Conclusion MRI findings of Joubert syndrome are characteristic,and it is easy to diagnose in combination with clinical findings and MRI images of normal children,The ratio of the anteroposterior diameter of the middle cerebral isthmus and the depth of interpeduncular cistern is expected to be used to evaluate the dysplasia of the middle brain in this disease.

关 键 词：JOUBERT综合征 遗传性疾病 磁共振成像 小脑蚓缺如 臼齿征 

分 类 号：R445.2[医药卫生—影像医学与核医学]