Neuropediatrics 2025; 56(S 01): S1-S24
DOI: 10.1055/s-0045-1812146
Movement Disorders

Palliative GPi-DBS for Severe Dystonia in SCN2A-Related Developmental and Epileptic Encephalopathy

Authors

  • L. Abela

    1   Universitäts-Kinderspital Zürich, Neuropädiatrie, Zürich, Switzerland

  • S. Mahendran

    2   Universitäts-Spital Zürich, Neurologie, Zürich, Switzerland

  • L. Stieglitz

    3   Universitäts-Spital Zürich, Neurochirurgie, Zürich, Switzerland

  • B. Balint

    2   Universitäts-Spital Zürich, Neurologie, Zürich, Switzerland

  • A. Hackenberg

    1   Universitäts-Kinderspital Zürich, Neuropädiatrie, Zürich, Switzerland
Further Information
Also available at
 

Background/Purpose: SCN2A-related developmental and epileptic encephalopathy (DEE) is a rare neurogenetic disorder typically presenting with early-onset epilepsy and profound intellectual disability. In addition to seizures, affected individuals may develop hyperkinetic movement disorders, including dystonia, chorea, and ataxia. Treatment options for refractory dystonia in this population remain limited.

Methods: We report a patient with a de novo heterozygous SCN2A mutation.

Results: He presented with seizures and status epilepticus at 2 months of age. Initial management included multiple anti-seizure medications, which led to a reduction in seizure frequency over time. However, the patient subsequently developed a progressive generalized dystonic movement disorder, with severe opisthotonic posturing. Despite aggressive pharmacological management, including gabapentin, clonidine, trihexyphenidyl, diazepam, chloral hydrate, and baclofen, he developed status dystonicus. At age 4, he underwent palliative bilateral globus pallidus internus deep brain stimulation (GPi-DBS). At 3 months postoperatively, the patient demonstrated a notable improvement in limb dystonia, with a reduction in dystonic posturing and discomfort. Axial dystonia and opisthotonus demonstrated mild improvement, with a favorable trend suggesting further benefit over time.

Conclusion: Movement disorders are an increasingly recognized phenotype in SCN2A-DEE, likely related to the role of SCN2A-encoded sodium channels in basal ganglia function. While DBS is well-established in genetic dystonia of other etiologies, its use in genetic DEE, such as SCN2A-related DEE, remains exploratory. This case highlights that GPi-DBS can be an effective palliative intervention in cases of medically refractory dystonia secondary to SCN2A-DEE. Further data are needed to define patient selection criteria, timing, and long-term outcomes.



Publication History

Article published online:
26 September 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany