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Frequent Fall: Seizure or Weakness? A Case Report of Alternating Hemiplegia of Childhood

机译:经常跌倒:癫痫发作还是虚弱?儿童交替性偏瘫的病例报告

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摘要

Alternating Hemiplegia of Childhood (AHC) is a complex disease which causes recurrent hemiplegic attacks. Although ATP1A3 gene has been identified as the cause of this neurological entity, many variants are being reported nowadays, adding to the spectrum of ATP1A3 gene-related disorders due to the advancement in genetic testing. Hereby, authors presents a case report of a 3-year-old male child who presented with a complaint of frequent falls while walking with gait abnormality and has been on treatment for seizure disorder since, 5 months of age. On assessing the history and evaluating the child, AHC was suspected and the same was confirmed using genetic tests.
机译:儿童交替性偏瘫 (AHC) 是一种复杂的疾病,会导致反复发作的偏瘫发作。尽管 ATP1A3 基因已被确定为这种神经系统实体的病因,但如今已报道了许多变体,由于基因检测的进步,增加了 ATP1A3 基因相关疾病的范围。在此,作者提交了一份病例报告,一名 3 岁男童主诉走路时经常跌倒,步态异常,自 5 个月大以来一直在接受癫痫治疗。在评估病史和评估儿童时,怀疑 AHC,并通过基因检测证实了 AHC。

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