Department of Neurology, Chungnam National University Sejong Hospital, Sejong, Korea.
Department of Neurology, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Korea.
J Korean Med Sci. 2020 Jul 6;35(26):e203. doi: 10.3346/jkms.2020.35.e203.
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 gene. After the introduction of next-generation sequencing, intermediate cases and atypical cases have expanded the clinical spectrum of -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 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 -related disorders.
儿童交替性偏瘫（AHC）是一种罕见的神经发育障碍，其特征是反复发作的阵发性偏瘫发作，影响身体的一侧或另一侧。多达 74%的 AHC 患者存在 基因的病理性变异。在引入下一代测序后，中间病例和非典型病例扩展了 -相关疾病的临床谱。在此，我们报告了韩国首例 AHC 病例。一名 33 岁男性在 1 岁生日后出现反复偏瘫和肌张力障碍发作，来我院就诊。发作间期他完全正常，没有任何共济失调，但脑磁共振成像显示小脑萎缩。他还患有足内翻畸形。全外显子组测序显示 基因（c.2839G > C，rs398122887）存在杂合性 G947R 变异，这是一种已知的病理性变异。这种不典型的 AHC 病例表明了临床方法在诊断 -相关疾病中的重要性。
