Bhargav Adip G, Lundy Paige A, Coffman Keith A, Kaufman Christian B
Department of Neurological Surgery, Medical Center, University of Kansas, Kansas City, KS, USA.
Division of Neurosurgery, Department of Surgery, Children's Mercy Hospital, Kansas City, KS, USA.
Childs Nerv Syst. 2025 Aug 7;41(1):255. doi: 10.1007/s00381-025-06921-2.
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.
运动障碍，包括肌张力障碍和震颤，在儿科人群中会导致身体衰弱。神经代谢综合征，如典型半乳糖血症，是儿科运动障碍病因的一个子集，目前可用于指导治疗的数据有限。深部脑刺激尽管很少进行，但对于有难治性症状的儿科患者是一种选择。在此，我们报告一例14岁男孩，患有典型半乳糖血症导致的进行性、难治性全身性肌张力障碍和小脑震颤。他接受了双侧丘脑腹中间核和内侧苍白球植入术以进行深部脑刺激。在6年的随访期内，患者的震颤和肌张力障碍均有持久改善。对于精心挑选的患者，双靶点、双侧深部脑刺激可以是缓解典型半乳糖血症所致混合运动障碍的有效疗法。据我们所知，这是首例在半乳糖血症所致震颤的情况下实施双靶点深部脑刺激的病例，可能是该患者群体中有前景的治疗模式。
