Sener R N
Department of Radiology, Ege University Hospital Bornova, Izmir, Turkey.
Comput Med Imaging Graph. 1995 Nov-Dec;19(6):481-6. doi: 10.1016/0895-6111(96)00005-5.
Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs), and describes MR imaging findings in seven of these. Besides the previously described characteristic and relatively common changes of the syndrome, the MR imaging findings in these patients revealed thinned optic tracts, enlarged temporal horns in the absence of hydrocephalus, high-signal of the cerebral periventricular white matter, abnormal signal in the decussation of the superior cerebellar peduncles, and abnormal embryonic vessels associated with the dysplastic folia of the cerebellar hemispheres.
乔伯特综合征是一种罕见的小脑蚓部发育缺陷，伴有发作性呼吸急促和呼吸暂停、异常眼动及智力障碍。该病通常在新生儿期通过临床诊断。本文报告了9例该综合征患者（6例男性，3例女性；年龄2.5至9岁），并描述了其中7例的磁共振成像（MR）表现。除了该综合征先前描述的特征性及相对常见的改变外，这些患者的MR成像表现还显示视神经束变薄、在无脑积水情况下颞角扩大、脑室周围脑白质高信号、小脑上脚交叉处信号异常以及与小脑半球发育异常小叶相关的异常胚胎血管。
