Disclosures: Katherine F. Thomas, MD: No financial relationships or conflicts of interest

Case Diagnosis: Pediatric patient with Gabriele-de Vries syndrome (GADEVS) who demonstrated substantial functional improvement after receiving a deep brain stimulator (DBS).

Case Description: A 12-year-old male with history of fetal alcohol syndrome, premature birth at 34 weeks gestation, and GADEVS presented for management of his ongoing movement disorder. Throughout childhood he demonstrated developmental delay and had significant difficulty with activities of daily living including struggling to hold utensils as well as bowel and bladder incontinence. He further struggled with speech production, dysphagia, and poor vision stemming in part from poor control of extraocular movements. He had previously trialed multiple medications for his movement disorder including carbidopa/levodopa, clonidine, and risperidone with minimal improvement. Physical examination was remarkable for difficulty with visual tracking, mixed tone including hypotonia, chorea, and dystonia and was largely dependent for mobility. Additional work-up including MRI brain was unremarkable but genetic evaluation revealed heterozygous 16p11.2 microduplication and a novel heterozygous YY1 gene mutation (specifically variant P.V135TfsX114) resulting in GADEVS.

Discussion: A DBS (Medtronic DBS, Activa RC, model 37612) was placed with leads targeting the bilateral globus pallidus internus. Although his settings are continuing to be titrated, his most recent settings are 2.2 volts of stimulation on left and 1.3 volts on right, 120 microseconds, and 60 hertz frequency.

Setting: Academic Medical Center

Assessment/Results: Since DBS implantation, his parents report he has had significant functional improvement including substantially improved visual tracking, resolution of dysphagia, and excellent use of utensils. He is now able to speak in full paragraphs, is largely independent for mobility, and bowel as well as bladder incontinence is significantly improved.

Conclusion: DBS resulted in substantial functional improvement in a child with GADEVS as has previously been reported by Zorzi et al., 2021. Although studies using larger sample sizes are needed to confirm findings, DBS may be considered in treatment of individuals with GADEVS.

Level of Evidence: Level IV

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/functional-improvement-in-pediatric-patient-with-gabriele-de-vries-syndrome-after-deep-brain-stimulator-placement/