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KMID : 0191120200350260203
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Journal of Korean Medical Science
2020 Volume.35 No. 26 p.203 ~ p.203
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Alternating Hemiplegia of Childhood in Korea: a Case Report
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Shin Chae-Won
Yoo Dal-Lah
Kim Han-Joon
Jeon Beom-Seok
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Abstract
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Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent paroxysmal hemiplegic attacks that affect one or the other side of the body. Up to 74% of patients with AHC have a pathologic variant in the ATP1A3 gene. After the introduction of next-generation sequencing, intermediate cases and atypical cases have expanded the clinical spectrum of ATP1A3-related disorders. Herein, we report the first case of AHC in Korea. A 33-year-old man visited our hospital with recurrent hemiplegic and dystonic episode after his first birthday. He was completely normal between episodes and did not have any ataxia, but brain magnetic resonance imaging showed cerebellar atrophy. He also had pes planovalgus deformity. Whole exome sequencing revealed a heterozygous G947R variant in the ATP1A3 gene (c.2839G > C, rs398122887), which is a known pathologic variant. This atypical case of AHC demonstrates the importance of the clinical approach in diagnosing ATP1A3-related disorders.
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KEYWORD
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Alternating Hemiplegia of Childhood, ATP1A3 Gene, Cerebellar Atrophy, Pes Planovalgus
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