诊断影像学临床（118）。
Clinics in diagnostic imaging (118).
作者信息
Subramanian S, Hari S, Santosh Kumar S
机构信息
Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
出版信息
Singapore Med J. 2007 Sep;48(9):869-72; quiz 873.
PMID:17728972
Abstract
An 18-month-old boy presented with delayed milestones, hypotonia, strabismus and an episode of seizure. Magnetic resonance (MR) imaging of the brain revealed abnormally-oriented and thickened superior cerebellar peduncle, giving rise to the characteristic molar tooth sign on axial images. The isthmus was thinned out, with widened interpeduncular cistern and hypoplastic vermis. The clinical and MR imaging features were diagnostic of Joubert syndrome.
摘要
一名18个月大的男孩出现发育迟缓、肌张力减退、斜视和一次癫痫发作。脑部磁共振成像显示上小脑脚方向异常且增厚，在轴位图像上产生典型的磨牙征。峡部变细，脚间池增宽，小脑蚓部发育不全。临床和磁共振成像特征可诊断为乔伯特综合征。
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