PMC9211437_01
Patient's family pedigree tree. The arrow points to the presented case in this report. Black and gray color represent the family member with confirmed and with suspicious dopa-responsive dystonia (DRD) diagnoses, respectively. The family member with a confirmed diagnosis of Parkinson's disease is represented as the black dot crossed with a horizontal line.
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F1
His family pedigree tree is presented in Figure 1.
(A) Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total, severity, disability, and pain scores at baseline, 2, 5, and 8 months after bilateral GPi-DBS surgery. (B-D) Lead location of bilateral globus pallidus internus-deep brain simulation (GPi-DBS) and volume of tissue activated (red) in the initial, second, third programming parameters. Globus pallidus internus (green), globus pallidus externus (blue), subthalamic nucleus (orange), and red nucleus (deep red). For localizing the anatomical electrode position and determining the volume of tissue activated (VTA), T1-weighted magnetization prepared rapid gradient echo (MP-RAGE) images of the patient were obtained preoperatively and registered with post-operative high-resolution CT using the Lead-DBS software package.
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F2
The severity, pain, and disability of cervical dystonia were rated with Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) (Figure 2A). A injection treatments, bilateral globus pallidal internus deep brain stimulation (GPi-DBS) (3,387, Medtronic, Minneapolis, Minnesota USA) was performed. After the surgery, the patient's left-sided torticollis was slightly relieved by initiating the stimulation at voltage 2 V, pulse width 90 mus, frequency 160 Hz, and contact of left GPi (9+;10-) in bipolar mode and right GPi (C+;2-) in monopolar mode (Figure 2B). In the 2-month follow-up visit, the severity level of his torticollis was reduced by 29.4% compared with the baseline value (17 vs. 12, Figure 2A). To optimize the GPi-DBS treatment, we increased the voltage to 3.5 V on the left and 3 V on the right without changing other parameters (Figure 2C). Because the patient developed side effects, such as slurred speech and muscle twitching, in the 5-months follow-up visit, we re-adjusted the stimulation to the following setting: contact in the left GPi (C+;9-) and in the right GPi (C+;1-) in monopolar mode; the voltage at 3 V; pulse width at 90 mus; the frequency at 160 Hz (Figure 2D). The global score, severity subscale, pain subscale, and disability subscale of TWSTRS were improved by 87.2, 76.5, 83.3, and 100% respectively (Figure 2D).