Poretti A, Boltshauser E, Loenneker T, Valente E M, Brancati F, Il'yasov K, Huisman T A G M
Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
AJNR Am J Neuroradiol. 2007 Nov-Dec;28(10):1929-33. doi: 10.3174/ajnr.A0703. Epub 2007 Sep 26.
Neuropathologic findings and preliminary imaging studies demonstrated the absence of pyramidal tract and superior cerebellar peduncular decussation in individual patients with Joubert syndrome (JS). We hypothesized that functional-structural neuroimaging findings do not differ between the genetic forms of JS.
MR imaging was performed with a 3T MR imaging-unit. Multiplanar T2- and T1-weighted imaging was followed by diffusion tensor imaging (DTI). Isotropic diffusion-weighted images, apparent diffusion coefficient maps, and color-coded fractional anisotropy maps, including tractography, were subsequently calculated.
In all 6 patients studied, DTI showed that the fibers of the superior cerebellar peduncles did not decussate in the mesencephalon and the corticospinal tract failed to cross in the caudal medulla. The patients represented various genetic forms of JS.
In JS, the fibers of the pyramidal tract and the superior cerebellar peduncles do not cross, irrespective of the underlying mutation.
神经病理学发现和初步影像学研究表明，个别Joubert综合征（JS）患者不存在锥体束和小脑上脚交叉。我们推测，JS的不同遗传形式之间，功能-结构神经影像学表现并无差异。
采用3T磁共振成像设备进行磁共振成像。在多平面T2加权和T1加权成像之后进行扩散张量成像（DTI）。随后计算各向同性扩散加权图像、表观扩散系数图以及包括纤维束成像在内的彩色编码分数各向异性图。
在所有6例研究患者中，DTI显示小脑上脚纤维在中脑未交叉，皮质脊髓束在延髓尾部未交叉。这些患者代表了JS的不同遗传形式。
在JS中，无论潜在突变如何，锥体束纤维和小脑上脚均不交叉。
