| Autor: |
Rossi J; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41121 Modena, Italy., Cavallieri F; Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy., Giovannini G; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41121 Modena, Italy.; Unit of Neurology, OCB, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy., Benuzzi F; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy., Ballotta D; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy., Vaudano AE; Unit of Neurology, OCB, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy.; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy., Ferrara F; Internal Medicine Unit, Centre for Hemochromatosis and Heredometabolic Liver Diseases, Policlinico, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy., Contardi S; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neurologia e Rete Stroke Metropolitana, Ospedale Maggiore, 40133 Bologna, Italy., Pietrangelo A; Internal Medicine Unit, Centre for Hemochromatosis and Heredometabolic Liver Diseases, Policlinico, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy., Corradini E; Internal Medicine Unit, Centre for Hemochromatosis and Heredometabolic Liver Diseases, Policlinico, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy., Lui F; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy., Meletti S; Unit of Neurology, OCB, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy.; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy. |
| Abstrakt: |
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. |
