Abstract：
In this paper, we describe the multimodal MRI findings in a patient with Wilson disease and a seizure disorder, characterized by an electroclinical picture resembling juvenile myoclonic epilepsy. The brain structural MRI showed a deposition of ferromagnetic materials in the basal ganglia, with marked hypointensities in T2-weighted images of globus pallidus internus bilaterally. A resting-state fMRI study revealed increased functional connectivity in the patient, compared to control subjects, in the following networks: (1) between the primary motor cortex and several cortical regions, including the secondary somatosensory cortex and (2) between the globus pallidus and the thalamo-frontal network. These findings suggest that globus pallidus alterations, due to metal accumulation, can lead to a reduction in the normal globus pallidus inhibitory tone on the thalamo-(motor)-cortical pathway. This, in turn, can result in hyperconnectivity in the motor cortex circuitry, leading to myoclonus and tonic-clonic seizures. We suppose that, in this patient, Wilson disease generated a \'lesion model\' of myoclonic epilepsy.
摘要：
在本文中,我们描述了威尔逊病和癫痫患者的多模态MRI发现，特征是类似于青少年肌阵挛性癫痫的电临床图片。脑结构MRI显示基底神经节有铁磁性物质沉积,在双侧苍白球的T2加权图像中具有明显的低张力。一项静息状态功能磁共振成像研究显示患者的功能连通性增加，与对照组相比，在以下网络中：(1)在初级运动皮层和几个皮层区域之间，包括次级体感皮层和（2）苍白球和丘脑-额叶网络之间。这些发现表明苍白球改变，由于金属积累，可导致丘脑-（运动）-皮层途径上正常苍白球抑制张力的降低。这个,反过来,会导致运动皮层电路的超连接，导致肌阵鸣和强直阵挛性癫痫发作。我们假设，在这个病人身上，威尔逊病产生了肌阵挛性癫痫的“病变模型”。
