Kendall B, Kingsley D, Lambert S R, Taylor D, Finn P
Department of Neuroradiology, Hospital for Sick Children, London, England.
Neuroradiology. 1990;31(6):502-6. doi: 10.1007/BF00340131.
A characteristic malformation of the cerebellum, including dysgenesis of the vermis and enlargement of the fourth ventricle was observed on computed tomography (CT) in 16 children on review of our consecutive material. Seven of these children underwent magnetic resonance imaging (MRI) which showed hypoplasia of the brainstem in addition to cerebellar vermian dysgenesis. One child had, in addition, dysgenesis of the corpus callosum. All these children were developmentally delayed, and many had neonatal breathing abnormalities, congenital retinal dystrophy and supranuclear ocular motor abnormalities. Joubert's syndrome should be suspected in children in whom dysgenesis of the cerebellar vermis and hypoplasia of the brainstem is shown on CT or MRI.
回顾我们连续收集的病例资料发现，16例儿童经计算机断层扫描（CT）观察到小脑有特征性畸形，包括蚓部发育不全和第四脑室扩大。其中7例儿童接受了磁共振成像（MRI）检查，结果显示除小脑蚓部发育不全外，脑干也发育不全。另外，有1例儿童胼胝体发育不全。所有这些儿童均有发育迟缓，许多儿童还伴有新生儿呼吸异常、先天性视网膜营养不良和核上性眼球运动异常。对于CT或MRI显示小脑蚓部发育不全和脑干发育不全的儿童，应怀疑患有朱伯特综合征。
