<p>Movement disorders, including dystonia and tremor, are debilitating in the pediatric population. Neurometabolic syndromes such as classic galactosemia represent a subset of etiologies of pediatric movement disorders for which limited data is available to guide treatment. Deep brain stimulation, though rarely performed, is an option for pediatric patients with refractory symptoms. Here, we report a case of a 14-year-old boy with progressive, refractory generalized dystonia and cerebellar tremor resulting from classic galactosemia. He underwent implantation of bilateral thalamic ventral intermediate nucleus and globus pallidus internus for deep brain stimulation. The patient experienced durable improvement in both tremor and dystonia over a 6-year follow-up period. Dual-target, bilateral deep brain stimulation can be an effective therapy for alleviation of mixed movement disorders resulting from classic galactosemia in carefully selected patients. To our knowledge, this is the first case in which dual-target deep brain stimulation has been implemented in the setting of galactosemia-induced tremor and may be a promising treatment paradigm in this patient population.</p>

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Simultaneous, dual-target, bilateral deep brain stimulation for treatment of galactosemia-induced dystonia and tremor in a pediatric patient

  • Adip G. Bhargav,
  • Paige A. Lundy,
  • Keith A. Coffman,
  • Christian B. Kaufman

摘要

Movement disorders, including dystonia and tremor, are debilitating in the pediatric population. Neurometabolic syndromes such as classic galactosemia represent a subset of etiologies of pediatric movement disorders for which limited data is available to guide treatment. Deep brain stimulation, though rarely performed, is an option for pediatric patients with refractory symptoms. Here, we report a case of a 14-year-old boy with progressive, refractory generalized dystonia and cerebellar tremor resulting from classic galactosemia. He underwent implantation of bilateral thalamic ventral intermediate nucleus and globus pallidus internus for deep brain stimulation. The patient experienced durable improvement in both tremor and dystonia over a 6-year follow-up period. Dual-target, bilateral deep brain stimulation can be an effective therapy for alleviation of mixed movement disorders resulting from classic galactosemia in carefully selected patients. To our knowledge, this is the first case in which dual-target deep brain stimulation has been implemented in the setting of galactosemia-induced tremor and may be a promising treatment paradigm in this patient population.