Objective: To report the efficacy of deep brain stimulation in the Globus pallidus pars interna (GPi-DBS) as rescue treatment of therapy-refractory dystonic storm in an adult patient with a GNAO1-mutation.
Background: A 22-year-old patient with known de novo GNAO1– mutation was admitted to our intensive care unit (ICU) because of a therapy-refractory dystonic storm complicated with rhabdomyolysis. At admission, the patient required mechanical ventilation through a tracheostomy tube, an enteral nutrition through a percutaneous endoscopic gastrostomy tube and an analgo-sedation with propofol/sufentanil, which was yet unable to control the dystonic storm. Isofluran was added to break it. Any attempt to wean the analgo-sedation over one week time by further combining an alpha-agonist, a low potent neuroleptic and bezodiazepine was ineffective. We then opted for GPi-DBS as a rescue treatment.
Method: We targeted the posterior third of the GPi. Multidirectional leads were placed in each GPi after electrophysiological microelectrode recordings and test-stimulation. Leads position was confirmed with intraoperative CT-scan.
Results: There was no acute improvement of the dystonic storm after surgery. To minimise ECG-artefacts during ICU-monitoring, we opted for a bipolar stimulation. Ten days after switching on the GPi-DBS, we were able to beginn weaning the analgo-sedation, which was stopped eventually three weeks after surgery. Dystonia was effectively controlled and the patient resumes the motor condition previous to hospitalisation. No further episodes of dystonic storm has occurred at four months follow up.
Conclusion: This is the first report of GPi-DBS rescue treatment for dystonic storm in an adult patient with GNAO1-mutation. GPi-DBS is an effective treatment, but may requires a few days to significantly reduce dystonia.
To cite this abstract in AMA style:
V. Maltese. Efficacy of emergency deep brain stimulation in the Globus pallidus pars interna (GPi-DBS) for dystonic storm in an adult patient with de novo GNAO1-Mutation [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/efficacy-of-emergency-deep-brain-stimulation-in-the-globus-pallidus-pars-interna-gpi-dbs-for-dystonic-storm-in-an-adult-patient-with-de-novo-gnao1-mutation/. Accessed July 1, 2025.« Back to 2023 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/efficacy-of-emergency-deep-brain-stimulation-in-the-globus-pallidus-pars-interna-gpi-dbs-for-dystonic-storm-in-an-adult-patient-with-de-novo-gnao1-mutation/