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KMID : 1197720200130020154
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대한파킨슨병 및 이상운동질환 학회지
2020 Volume.13 No. 2 p.154 ~ p.158
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Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
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Mun Jun-Kyu
Kim Ah-Reum
Ahn Jong-Hyeon
Kim Min-Kyeong
Cho Jin-Whan
Lee Jung-Il
Cho Kyung-Rae
Youn Jin-Young
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Abstract
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Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.
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KEYWORD
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WordsaaDeep brain stimulation, Dystonia, Globus pallidus, KMT2B, Pallidum
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