Rossi Jessica, Cavallieri Francesco, Giovannini Giada, Benuzzi Francesca, Ballotta Daniela, Vaudano Anna Elisabetta, Ferrara Francesca, Contardi Sara, Pietrangelo Antonello, Corradini Elena, Lui Fausta, Meletti Stefano
Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41121 Modena, Italy.
Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy.
Brain Sci. 2022 Apr 26;12(5):553. doi: 10.3390/brainsci12050553.
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.
在本文中，我们描述了一名患有威尔逊病和癫痫障碍患者的多模态磁共振成像（MRI）结果，其临床电生理表现类似于青少年肌阵挛性癫痫。脑部结构MRI显示基底神经节中有铁磁性物质沉积，双侧苍白球内侧在T2加权图像上有明显低信号。一项静息态功能磁共振成像（fMRI）研究显示，与对照组相比，该患者在以下网络中功能连接增加：（1）初级运动皮层与包括次级体感皮层在内的几个皮层区域之间；（2）苍白球与丘脑-额叶网络之间。这些发现表明，由于金属蓄积导致的苍白球改变可导致丘脑-（运动）-皮层通路中正常苍白球抑制性张力降低。反过来，这可能导致运动皮层回路的过度连接，从而引发肌阵挛和强直-阵挛性癫痫发作。我们推测，在该患者中，威尔逊病产生了一种肌阵挛性癫痫的“病变模型”。
