Hsu Charlie Chia-Tsong, Kwan Gigi Nga Chi, Bhuta Sandeep
Department of Medical Imaging, Gold Coast University Hospital, Southport, Queensland, Australia.
Department of Medical Imaging, Gold Coast University Hospital, Southport, Queensland, Australia; Griffith University, School of Medicine, Southport, Queensland, Australia.
Pediatr Neurol. 2015 Jul;53(1):47-52. doi: 10.1016/j.pediatrneurol.2015.02.027. Epub 2015 Mar 5.
We undertook diffusion tensor imaging analysis of brainstem fiber tracts in two Joubert syndrome patients.
Two Joubert syndrome patients underwent magnetic resonance imaging brain examination with diffusion tensor imaging. Imaging findings were compared with five age- and sex-matched control subjects with approval from the institutional ethic committee. The medical history and clinical examination findings in both patients were documented.
Diffusion tensor imaging analysis of the first patient demonstrated absence of the dorsal pontocerebellar tract and thinning of the middle cerebral peduncle. Diffusion tensor imaging analysis of the second child revealed thinning of the both the dorsal pontocerebellar and ventral pontocerebellar tract. Both patients exhibited thickened and horizontally oriented superior cerebellar peduncles. The superior cerebellar peduncles also failed to decussate in the mesencephalon.
Pontocerebellar tract abnormalities in Joubert syndrome patients have not been previously recognized. The difference in the pontocerebellar tract between the two Joubert syndrome patients suggests a spectrum of severity of pontine axonal migration abnormality.
我们对两名Joubert综合征患者的脑干纤维束进行了扩散张量成像分析。
两名Joubert综合征患者在获得机构伦理委员会批准后，接受了磁共振成像脑部检查及扩散张量成像。将成像结果与五名年龄和性别匹配的对照受试者进行比较。记录了两名患者的病史和临床检查结果。
对第一名患者的扩散张量成像分析显示，脑桥小脑背侧束缺失，大脑脚中部变薄。对第二名儿童的扩散张量成像分析显示，脑桥小脑背侧束和腹侧束均变薄。两名患者均表现出增厚且水平取向的小脑上脚。小脑上脚在中脑也未交叉。
Joubert综合征患者的脑桥小脑束异常此前未被认识到。两名Joubert综合征患者脑桥小脑束的差异提示脑桥轴突迁移异常存在严重程度范围。
