Anand Geetha, Bridge Holly, Rackstraw Peter, Chekroud Adam M, Yong Jean, Stagg Charlotte J, Pike Michael
Department of Paediatric Neurology, Children's Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
Dev Med Child Neurol. 2015 Mar;57(3):265-72. doi: 10.1111/dmcn.12594. Epub 2014 Oct 7.
Paediatric opsoclonus-myoclonus syndrome (OMS) is a poorly understood condition with long-term cognitive, behavioural, and motor sequelae. Neuroimaging has indicated cerebellar atrophy in the chronic phase, but this alone may not explain the cognitive sequelae seen in many children with OMS. This study aimed to determine the extent of structural change throughout the brain that may underpin the range of clinical outcomes.
Nine participants with OMS (one male, eight females; mean age [SD] 14y, [6y 5mo], range 12-30y) and 10 comparison individuals (three males, seven females; mean age 12y 6mo, [4y 9mo], range 10-23y) underwent magnetic resonance imaging to acquire T1-weighted structural images, diffusion-weighted images, and magnetic resonance spectroscopy scans. Neuroblastoma had been present in four participants with OMS. Voxel-based morphometry was used to determine changes in grey matter volume, tract-based spatial statistics to analyze white matter integrity, and Freesurfer to analyze cortical thickness across visual and motor cortices.
Whole-brain analysis indicated that cerebellar grey matter was significantly reduced in the patients with OMS, particularly in the vermis and flocculonodular lobe. A region-of-interest analysis indicated significantly lower cerebellar grey matter volume, particularly in patients with the greatest OMS scores. Diffusion-weighted images did not show effects at a whole brain level, but all major cerebellar tracts showed increased mean diffusivity when analysis was restricted to the cerebellum. Cortical thickness was reduced across the motor and visual areas in the OMS group, indicating involvement beyond the cerebellum.
Across individuals with OMS, there is considerable cerebellar atrophy, particularly in the vermis and flocculonodular lobes with atrophy severity associated with persistent symptomatology. Differences in cerebral cortical thickness indicate disease effects beyond the cerebellum.
儿童眼阵挛-肌阵挛综合征（OMS）是一种了解甚少的疾病，会导致长期的认知、行为和运动后遗症。神经影像学显示在慢性期存在小脑萎缩，但仅此一点可能无法解释许多OMS患儿出现的认知后遗症。本研究旨在确定全脑结构变化的程度，这些变化可能是一系列临床结果的基础。
9名OMS患者（1名男性，8名女性；平均年龄[标准差]14岁，[6岁5个月]，范围12 - 30岁）和10名对照个体（3名男性，7名女性；平均年龄12岁6个月，[4岁9个月]，范围10 - 23岁）接受了磁共振成像，以获取T1加权结构图像、弥散加权图像和磁共振波谱扫描。4名OMS患者曾患神经母细胞瘤。基于体素的形态计量学用于确定灰质体积的变化，基于纤维束的空间统计学用于分析白质完整性，Freesurfer用于分析视觉和运动皮层的皮质厚度。
全脑分析表明，OMS患者的小脑灰质显著减少，尤其是在蚓部和绒球小结叶。感兴趣区分析表明，小脑灰质体积显著降低，尤其是OMS评分最高的患者。弥散加权图像在全脑水平未显示出影响，但当分析局限于小脑时，所有主要的小脑中纤维束平均弥散率增加。OMS组的运动和视觉区域皮质厚度均降低，表明病变超出了小脑范围。
在OMS患者中，存在相当程度的小脑萎缩，尤其是蚓部和绒球小结叶，萎缩严重程度与持续症状相关。大脑皮质厚度的差异表明疾病影响超出了小脑范围。
