Joubert综合征的影像与临床相关性分析

Analysis of Correlation between Clinical Manifestation and Imaging Features in Patients with JS

目的:分析Joubert综合征(JS)影像学特征,并与临床相关性做探讨。方法:回顾性分析15例JS患儿的临床及MRI资料。结果:JS典型影像表现包括小脑半球间"中线裂",第四脑室上部呈蝙蝠翼状和第四脑室中部呈三角形以及中脑水平的磨牙征。本组15例患儿均可见中线裂,其中仅发生在下蚓部者8例,上下蚓部均见裂隙者7例,后者肌张力减低程度较前者显著;13例显示蝙蝠翼状和三角形第四脑室;12例显示磨牙征,其中2例不典型,3例未显示磨牙征,10例显示典型磨牙征患儿在横断面图像上依据小脑上脚走向分为平行6例,V字形2例,A字形1例,弧形1例,且小脑上脚走行的分型与临床表现无明确相关性。结论:中线裂、蝙蝠翼状或三角形第四脑室及磨牙征与患儿的肌张力减低/共济失调等症状相关。影像学检查能很好的发现JS小脑蚓部发育不良的征象,结合JS临床表现,可以做出较可靠的诊断。

Purpose： To discuss the imaging features of Joubert syndrome （JS） and its correlation with clinical manifestation. Methods： Clinical and MR1 data of 15 cases with JS were analyzed retrospectively. Results： The typical imaging features of JS included midline cleft between cerebellar hemispheres, ＂bat- wing＂ and ＂triangle＂ shape in the upper and middle part of the fourth ventricle, and ＂molar tooth sign＂ on the midbrain level. On MRI, all cases had ＂midline cleft＂. Cleft of the cerebellar under vermis and whole vermis was respectively presented in 8 and 7 cases. For the latter, reduction of the muscle tone was more obvious than the former in the study. ＂Bat-wing＂ and ＂triangular-shaped＂ fourth ventricle was present in 13 cases. Twelve cases showed ＂molar tooth sign＂ including 2 atypical cases, and 3 other cases showed no molar tooth sign. The parallel, V-like, A-like, and curved superior cerebellar peduncles were revealed respectively in 6, 2, 1 and 1 cases on axial images. The shape of superior cerebellar peduncles wasn＇t related to clinical manifestations. Conclusion： ＂Midline cleft＂, ＂bat-wing＂ and ＂triangular- shaped＂ fourth ventricle and ＂molar tooth sign＂ were related to reduced muscle tone and ataxia. Imaging examination can find signs of cerebellar verims dysplasia. Combined with clinical manifestations, a reliable diagnosis can be made.