Objective: To report on the clinical course and outcomes following bilateral globus pallidus pars interna deep brain stimulation (GPi DBS) in a child with SOX2-anophthalmia syndrome and medically refractory status dystonicus

Background: GPi DBS is a treatment for medically refractory status dystonicus, but response is variable and questions remain about optimal patient selection. Genetic dystonia generally shows the best outcomes, whereas benefit is much more variable in patients with structural brain abnormalities. SOXopathies are genetic disorders, some of which are associated with severe dystonia and structural brain abnormalities. DBS use has not previously been described in SOXopathies. We describe the use of DBS for treatment of medically refractory status dystonicus in a child with SOX2-anophthalmia syndrome.

Method: We measured dystonia severity with the Dystonia Severity Grading Scale before and after bilateral GPi DBS in a 9-year-old girl with SOX2-anophthalmia syndrome and generalized dystonia. She presented in status dystonicus requiring intubation, deep sedation, and paralytics. She did not tolerate attempts to wean sedation. We thus recommended bilateral GPi DBS implantation, performed 1 month into her hospitalization.  We stimulated select leads demonstrating excessive synchronization on local field potential recordings.

Results: Status dystonicus resolved within 2 weeks of DBS surgery, and she was extubated and weaned off infusions. Shortly after and prior to achieving discharge readiness, status dystonicus recurred requiring re-intubation in the setting of systemic infection and recent programming changes. Though she improved with antibiotics, she continued to have frequent exacerbations in the setting of recurrent infections. Due to concern that DBS may have been contributing to her worsening and lack of reserve, we empirically turned DBS OFF. She showed no improvement with DBS OFF over the next 2 months before again turning DBS ON. She improved gradually and with each increase in stimulation settings over 4 months at which time she discharged home. Dystonia severity improved from grade 5 to grade 1 from admission to discharge.[1]

Conclusion: This case report illustrates the potential therapeutic benefit of GPi DBS to treat status dystonicus in SOX2-related disorders. Benefit may develop over months.

This abstract was previously presented 11/12/24 at the Child Neurology Society Annual Meeting.

References: [1] Lumsden, Daniel E et al. “Status dystonicus in childhood.” Current opinion in pediatrics vol. 29,6 (2017): 674-682. doi:10.1097/MOP.0000000000000556

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