Brain stimulation in Primary Dystonia: first pediatric Patient operated in Uruguay

Abstract

Introduction: Dystonia is one of the most common neurological movement disorders in children. Often refractory to pharmacological treatment, it may have a profound negative impact in the quality of life of the child and his caretakers. Thus, there is a particular interest in developing new therapeutic approaches, such as deep brain stimulation. The aim of this paper is to present the first case in Uruguay of a child with primary generalized dystonia, confirmed with genetic testing, who underwent implantation of a brain neurostimulator. Clinical case: 11 year-old boy diagnosed with early-onset (age 9) primary generalized dystonia, carrier of the DYT1 mutation. The dystonic symptoms were deemed severe and disabling. Given its refractoriety to medical treatment, the patient was submitted to bilateral stimulation of the globus pallidus internus (GPi). The surgical intervention, at 3 month- follow-up, led to a 76% improvement in the Burke Fahn Marsden Dystonia Rating Scale motor score (BFMDRS-M), 70% improvement in the disability score (BFMDRS-D), and substantial improvement (72%) in the child’s quality of life (SF36 questionnaire).
Discussion: Patients suffering inherited isolated dystonia without neurodegeneration or structural lesions of the central nervous system, as the case of our patient, are the best candidates for this type of surgery. Pallidal stimulation is a feasible treatment in our country, safe and effective in a group of carefully selected dystonic children.