case_images: PMC11306016_01
case_images: The genetic examination results of the patient and show a single nucleotide variant and a small fragment insertion-deletion variant.
case_images: fneur-15-1377377-g001.jpg
case_images: PMC11306016_01_fneur-15-1377377-g001.jpg
case_images: fig1
case_images: The genetic examination results (Figure 1) showed the patient had two heterozygous mutations in the VPS13A gene, mutation 1 (c.7253A > G, p.Asn2481Ser, source of variation: father) was located in the coding region: nucleotide 7,253 was mutated from adenine to guanine resulting in a mutation of amino acid 2,481 from asparagine to serine.
case_images: Intraoperative electrophysiologic monitoring unit observed cellular discharges typical of GPi. The coordinates on the leftmost side of the picture, the number 0 indicates the preset depth of the target point, the number 17 indicates 17 mm above the target point, and the cellular discharges are continuously recorded from the number 17 downwards, and the cellular discharges are the most typical and obvious in the black box, and then 0.622 mm and 0.531 mm above the target point. The different colored circles are related to the background sound (the sound during intraoperative testing of the nuclei), with the higher the background sound the redder the color.
case_images: fneur-15-1377377-g002.jpg
case_images: PMC11306016_01_fneur-15-1377377-g002.jpg
case_images: fig2
case_images: On March 23, 2023, we performed stereotactic deep brain electrode placement, as shown in Figure 2.
case_images: Image after fusion of preoperative MR plan and postoperative CT and it is a postoperative image fusion, suggesting that the stimulation electrode is precisely located in the GPI nucleus.
case_images: fneur-15-1377377-g003.jpg
case_images: PMC11306016_01_fneur-15-1377377-g003.jpg
case_images: fig3
case_images: After completing the first half of the procedure, we performed a Computed Tomography (CT) scan, fused the CT data with the preoperative implantation plan, and began implanting the peripheral pulse generator under general anesthesia after confirming the accuracy of the implantation position (Figure 3).