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KMID : 1197720220150010062
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대한파킨슨병 및 이상운동질환 학회지
2022 Volume.15 No. 1 p.62 ~ p.65
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Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder
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Domino Joseph S.
Gelineau-Morel Rose
Kaufman Christian
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Abstract
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Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment. This study represents only the third case of DBS for CS-associated movement disorder and the first in which both proposed targets had devices implanted, allowing for direct comparison. A case of DBS for CS-associated movement disorder is presented. Previous literature documents two cases with one targeting the ventral intermediate nucleus of the thalamus (VIM) and the other targeting the globus pallidus interna (GPi). Our patient underwent stimulation of GPi nuclei followed by repositioning to VIM nuclei with improved symptom control using VIM stimulation. In all cases, there was a significant clinical benefit without off-target effects. CS-associated movement disorder exhibits phenotypic variability for which DBS is a viable treatment. Target selection should be driven by clinical phenotype.
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KEYWORD
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Cockayne syndrome, Deep brain stimulation, Dystonia, Tremor
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