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<p>A retrospective analysis was conducted to evaluate the clinical characteristics, diagnostic challenges, and management strategies in a child with perioral myoclonia with absences (PMA). The case involved a 10-year-old boy with a six-month history of intermittent seizure episodes, which had worsened over the previous month. Clinical manifestations included transient blank stares, cessation of movement, unresponsiveness to verbal cues, and rhythmic twitching at the corners of the mouth, without limb rigidity or urinary/fecal incontinence. The duration of the seizures ranged from 10 to 15&#xa0;s. Video electroencephalography (VEEG) showed bilateral synchronous and symmetrical 3-Hz spike-wave discharges persisting for 10–15&#xa0;s, with rhythmic twitching captured on perioral EMG. The patient became seizure-free for 8 months only with 1000&#xa0;mg daily of valproate after 2 weeks treatment. PMA is an idiopathic generalized epilepsy syndrome characterized by typical absence seizures with perioral myoclonia. VEEG monitoring is crucial for definitive diagnosis. For children with typical absence seizures accompanied by perioral twitching, perioral EMG should be performed alongside routine deltoid EMG to clarify seizure type. PMA might be classified either as a special subtype of typical absence or as an independent seizure type. Paying close attention to the special phenomenon will help to clarify the clinical spectrum of this epileptic disorder.</p>

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Perioral myoclonia with absences in children: a case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月26日

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  • Mei Jin,
  • Fan Yang,
  • Yi Qu,
  • Yaning Sun,
  • Jia Gao,
  • Xiaojie Yang,
  • Suzhen Sun

摘要

A retrospective analysis was conducted to evaluate the clinical characteristics, diagnostic challenges, and management strategies in a child with perioral myoclonia with absences (PMA). The case involved a 10-year-old boy with a six-month history of intermittent seizure episodes, which had worsened over the previous month. Clinical manifestations included transient blank stares, cessation of movement, unresponsiveness to verbal cues, and rhythmic twitching at the corners of the mouth, without limb rigidity or urinary/fecal incontinence. The duration of the seizures ranged from 10 to 15 s. Video electroencephalography (VEEG) showed bilateral synchronous and symmetrical 3-Hz spike-wave discharges persisting for 10–15 s, with rhythmic twitching captured on perioral EMG. The patient became seizure-free for 8 months only with 1000 mg daily of valproate after 2 weeks treatment. PMA is an idiopathic generalized epilepsy syndrome characterized by typical absence seizures with perioral myoclonia. VEEG monitoring is crucial for definitive diagnosis. For children with typical absence seizures accompanied by perioral twitching, perioral EMG should be performed alongside routine deltoid EMG to clarify seizure type. PMA might be classified either as a special subtype of typical absence or as an independent seizure type. Paying close attention to the special phenomenon will help to clarify the clinical spectrum of this epileptic disorder.