PDF(Pubmed)
Abstract：
Dandy-Walker malformation (DWM) is a common prenatally diagnosed cerebellar malformation, characterized by cystic dilatation of the fourth ventricle, upward rotation of the hypoplastic vermis, and posterior fossa enlargement with torcular elevation. DWM is associated with a broad spectrum of neurodevelopmental abnormalities such as cognitive, motor, and behavioral impairments, which cannot be explained solely by cerebellar malformations. Notably, the pathogenesis of these symptoms remains poorly understood. This study investigated whether fetal structural developmental abnormalities in DWM extended beyond the posterior fossa to the cerebrum even in fetuses without apparent cerebral anomalies. Post-acquisition volumetric fetal magnetic resonance imaging (MRI) analysis was performed in 12 fetuses with DWM and 14 control fetuses. Growth trajectories of the volumes of the cortical plate, subcortical parenchyma, cerebellar hemispheres, and vermis between 18 and 33 weeks of gestation were compared. The median (interquartile range) gestational ages at the time of MRI were 22.4 (19.4-24.0) and 23.9 (20.6-29.2) weeks in the DWM and control groups, respectively (p = 0.269). Eight of the 12 fetuses with DWM presented with associated cerebral anomalies, including hydrocephalus (n = 3), cerebral ventriculomegaly (n = 3), and complete (n = 2) and partial (n = 2) agenesis of the corpus callosum (ACC); 7 presented with extracerebral abnormalities. Chromosomal abnormalities were detected by microarray analysis in 4 of 11 fetuses with DWM, using amniocentesis. Volumetric analysis revealed that the cortical plate was significantly larger in fetuses with DWM than in controls (p = 0.040). Even without ACC, the subcortical parenchyma, whole cerebrum, cerebellar hemispheres, and whole brain were significantly larger in fetuses with DWM (n = 8) than in controls (p = 0.004, 0.025, 0.033, and 0.026, respectively). In conclusion, volumetric fetal MRI analysis demonstrated that the development of DWM extends throughout the brain during the fetal period, even without apparent cerebral anomalies.
摘要：
Dandy-Walker畸形（DWM）是一种常见的产前诊断的小脑畸形，以第四脑室囊性扩张为特征，发育不良的疣向上旋转，后颅窝增大伴圆形抬高。DWM与广泛的神经发育异常有关，例如认知，电机,和行为障碍，不能仅仅用小脑畸形来解释.值得注意的是,这些症状的发病机制仍然知之甚少。这项研究调查了DWM中的胎儿结构发育异常是否延伸到后颅窝，甚至在没有明显脑异常的胎儿中也是如此。对12例DWM胎儿和14例对照胎儿进行了采集后体积胎儿磁共振成像（MRI）分析。皮质板体积的生长轨迹，皮质下薄壁组织,小脑半球,比较了妊娠18至33周的Vermis。在DWM组和对照组中，MRI时的中位（四分位范围）胎龄分别为22.4（19.4-24.0）和23.9（20.6-29.2）周，分别(p=0.269)。12例DWM胎儿中有8例伴有脑异常,包括脑积水（n=3），脑室增宽（n=3），以及call体（ACC）的完全（n=2）和部分（n=2）发育不全；7例表现为脑外异常。通过微阵列分析在11个DWM胎儿中的4个中检测到染色体异常，用羊膜穿刺术.体积分析显示，DWM胎儿的皮质板明显大于对照组（p=0.040）。即使没有ACC,皮质下薄壁组织,整个大脑,小脑半球,DWM胎儿（n=8）和全脑明显大于对照组（p分别为0.004、0.025、0.033和0.026）。总之,容积胎儿MRI分析表明，在胎儿期，DWM的发展延伸到整个大脑，即使没有明显的大脑异常.
