Both Deep Brain Stimulation and Thalamotomy in a 13-Year-Old Patient with Primary Dystonia

Primary dystonia is a neurologic disease with characteristics of abnormal, involuntary twisting and turning movements, which greatly affect quality of life of patients. Treatments for dystonia consist of oral medications, botulinum neurotoxin injections, physical therapy, and surgery. For medication-refractory dystonia, surgery, especially deep brain stimulation (DBS), is the optimal option.

The patient was a 13-year-old boy suffering from extremely severe primary dystonia, with a Burke-Fahn-Marsden Dystonia Rating Scale-motor score of 118 and a Toronto Western Spasmodic Torticollis Rating Scale-severity score of 29. The examination of 173 genes, including DYT, failed to identify any abnormality. He responded ineffectively to medications. After both bilateral subthalamic nucleus DBS and unilateral thalamic lesion in ventralis intermedius nucleus and ventralis oralis nucleus (Vim-Vo thalamotomy), his movement disorder improved dramatically. Four and 7 months after the operation, the scores of 2 rating scales sharply decreased. Potential brain structural changes were reflected in sensorimotor-related cortical thickness, surface area, and gray matter volume from magnetic resonance imaging, which may reveal a valid method to evaluate surgical effect on the brain with enough patients.

DBS and thalamotomy is potentially an effective combination of treatments for severe medication-refractory dystonia.