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CC BY-NC-ND 4.0 · Neuropediatrics 2023; 54(01): 044-052
DOI: 10.1055/a-1959-9088
Original Article

Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases

M. Garofalo 
1   Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands
,
M. Beudel
2   Department of Neurology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands
3   Amsterdam Neuroscience, Amsterdam, the Netherlands
,
J.M. Dijk
2   Department of Neurology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands
3   Amsterdam Neuroscience, Amsterdam, the Netherlands
,
L.A. Bonouvrié
4   Amsterdam UMC Location Vrije Universiteit Amsterdam, Rehabilitation Medicine, Amsterdam, the Netherlands
5   Amsterdam Movement Sciences, Rehabilitation and Development, Amsterdam, the Netherlands
,
A.I. Buizer 
4   Amsterdam UMC Location Vrije Universiteit Amsterdam, Rehabilitation Medicine, Amsterdam, the Netherlands
5   Amsterdam Movement Sciences, Rehabilitation and Development, Amsterdam, the Netherlands
,
J. Geytenbeek
4   Amsterdam UMC Location Vrije Universiteit Amsterdam, Rehabilitation Medicine, Amsterdam, the Netherlands
,
R.H.N. Prins
2   Department of Neurology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands
,
P.R. Schuurman
6   Department of Neurosurgery, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands
,
L.A. van de Pol
1   Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands
7   Department of Child Neurology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands
› Author Affiliations Funding This research received no external funding.
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Abstract

Background Dystonia is characterized by sustained or intermittent muscle contractions, leading to abnormal posturing and twisting movements. In pediatric patients, dystonia often negatively influences quality of life. Pharmacological treatment for dystonia is often inadequate and causes adverse effects. Deep brain stimulation (DBS) appears to be a valid therapeutic option for pharmacoresistant dystonia in children.

Methods To illustrate the current clinical practice, we hereby describe two pediatric cases of monogenetic movement disorders presenting with dystonia and treated with DBS. We provide a literature review of similar previously described cases and on different clinical aspects of DBS in pediatric dystonia.

Results The first patient, a 6-year-old girl with severe dystonia, chorea, and myoclonus due to an ADCY5 gene mutation, received DBS in an elective setting. The second patient, an 8-year-old boy with GNAO1-related dystonia and chorea, underwent emergency DBS due to a pharmacoresistant status dystonicus. A significant amelioration of motor symptoms (65% on the Burke-Fahn-Marsden Dystonia Rating Scale) was observed postoperatively in the first patient and her personal therapeutic goals were achieved. DBS was previously reported in five patients with ADCY5-related movement disorders, of which three showed objective improvement. Emergency DBS in our second patient resulted in the successful termination of his GNAO1-related status dystonicus, this being the eighth case reported in the literature.

Conclusion DBS can be effective in monogenetic pediatric dystonia and should be considered early in the disease course. To better evaluate the effects of DBS on patients' functioning, patient-centered therapeutic goals should be discussed in a multidisciplinary approach.

Keywords

deep brain stimulation - pediatric dystonia - status dystonicus - GNAO1 gene - ADCY5 gene - monogenetic movement disorders

Authors' Contributions

LAvdP, MG, and MB contributed to conceptualization, investigation, methodology, and writing of the original draft. MG, LAvP, MB, JMD, LAB, AIB, JG, RP, and PRS helped in writing—,reviewing and editing. All authors have read and agreed to the published version of the manuscript.


Patient Consent

Patients and parents' consent for publication was obtained.


Supplementary Material



Publication History

Received: 09 May 2022

Accepted: 12 October 2022

Accepted Manuscript online:
12 October 2022

Article published online:
27 December 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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