Division of Pediatric Neurology, University Children's Hospital of Zurich, Switzerland.
AJNR Am J Neuroradiol. 2011 Sep;32(8):1459-63. doi: 10.3174/ajnr.A2517. Epub 2011 Jun 16.
VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.
VH 和 MTS 是 JSRD 的神经影像学标志。我们旨在观察 JSRD 的全谱神经影像学表现，并回顾了 75 例 JSRD 患者的 MRI 表现，包括 13 名兄弟姐妹和 4 名 OFD VI 患者。所有患者均有 VH 和第四脑室扩大。VH 的程度和 MTS 的形式多种多样。在大多数患者中，小脑半球正常，PF 增大。30%的患者脑干形态异常。幕上发现包括海马旋转不良、胼胝体发育不良、移行障碍、脑膨出和脑室扩大。所有 OFD VI 患者均具有相似的表现，包括 2 例 HH。未发现神经影像学与基因型的相关性。我们患者的广泛神经影像学谱支持 JSRD 的异质性。兄弟姐妹之间的神经影像学差异代表了家族内的异质性。由于与基因型无相关性，神经影像学表现对 JSRD 患者的分类价值有限。
