婴儿期模仿癫痫发作的阵发性强直性向上凝视：诊断挑战

摘要(中文译文)

描述阵发性强直性上视（PTU）的临床特征，并强调其在婴儿中模仿癫痫发作的潜在可能。我们报告一例11月龄婴儿，表现为反复、短暂的持续性双眼上视偏斜，首次发现于6月龄。评估了神经系统检查、精神运动发育、经囟门超声及视频脑电图。发作频率逐渐增加，不伴意识障碍、肌张力异常或自主神经受累。神经系统检查及精神运动发育正常。经囟门超声未见异常，视频脑电图未见癫痫样活动。临床表型、发作间期检查正常及缺乏脑电图相关性支持PTU的诊断。认识PTU是一种非癫痫性阵发性障碍对于避免癫痫误诊和不必要的治疗干预至关重要。

Abstract

To describe the clinical features of paroxysmal tonic upgaze (PTU) and highlight its potential to mimicepileptic seizures in infants. We report the case of an 11-month-old infant with recurrent, brief episodes of sustained upward deviation of the eyes, first observed at six months of age. Neurological examination, psychomotor development, transfontanellar ultrasound, and video EEG were assessed. The episodes progressively increased in frequency without impairment of consciousness, motor tone, or autonomic involvement. Neurological examination and psychomotor development were normal. Transfontanellar ultrasound was unremarkable, and video EEG revealed no epileptiform activity. The clinical phenotype, normal interictal findings, and absence of electrographic correlates supported the diagnosis of PTU. Recognition of PTU as a non-epileptic paroxysmal disorder is essential to avoid misdiagnosis of epilepsy and unnecessary therapeutic interventions.

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