误诊为非惊厥性癫痫持续状态的异常脑电图现象:频繁的亚临床周期性放电被突然的听觉刺激终止。

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY Clinical EEG and Neuroscience Pub Date : 2023-03-01 DOI:10.1177/15500594221129965
Emel Oguz-Akarsu, Barıs Salman, Sibel Ugur-Iseri, Betul Baykan
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引用次数: 0

摘要

外界刺激触发或调节癫痫发作和节律性脑电图模式是众所周知的,最常见的临床表现是由物理或听觉刺激引起的刺激诱发周期性放电(SI- pd)模式。然而,刺激终止周期性放电(st - pd),换句话说,由外部刺激停止的周期性放电是一种极其罕见的脑电图(EEG)发现。我们报告了一位20岁的女性,她有明显的精神运动性发育延迟,原因不明,脑电图模式频繁出现长时间(10-60秒)的双侧阵发性高电压慢波,偶尔有尖峰,被误诊为非惊厥性癫痫持续状态。然而,在这些亚临床关键期脑电图记录中,技术人员、医生和她的母亲没有注意到明显的临床变化。然而,有趣的是,这些癫痫放电在脑电图上被突然的言语刺激反复打断。全外显子组测序和基因分型研究了可能的遗传病因,发现了两个序列变异,CACNA1H NM_021098.3:c.1701del;Asp568ThrfsTer15和GRIN2D NM_000836.4错义变体:c.1783A>T;Thr595Ser以及ATP6V1A基因arr [hg19]3q13.31(113,499,698_113,543,081)x1的拷贝数变异部分缺失作为可能的致病候点。亚临床周期性放电终止的言语刺激,是一个非常罕见的表现,需要特别注意。外部调制的初始脑电图模式是重要的识别刺激终止脑电图模式。
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An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli.

Triggering or modulation of seizures and rhythmic EEG patterns by external stimuli are well-known with the most common clinical appearance of stimulus induced periodic discharges (SI- PDs) patterns which are elicited by physical or auditory stimulation. However, stimulus terminated periodic discharges (ST-PDs), in other words, the periodic discharges stopped by external stimuli is an extremely rare electroencephalographic (EEG) finding. We report a 20-year-old woman with a marked psychomotor developmental delay of unknown cause, with frequent EEG patterns of long-lasting (10-60 s) bilateral paroxysmal high-voltage slow waves with occasional spikes, misdiagnosed as non-convulsive status epilepticus. However, no apparent clinical change was noted by the technician, physician, and her mother during these subclinical ictal EEG recordings. Interestingly, however, these epileptic discharges were abruptly interrupted by sudden verbal stimuli on the EEG, repeatedly. Whole exome sequencing and genotyping were performed to investigate possible genetic etiology that revealed two sequence variants, a frameshift variant of CACNA1H NM_021098.3:c.1701del;p.Asp568ThrfsTer15 and a missense variant of GRIN2D NM_000836.4:c.1783A>T;p.Thr595Ser as well as a copy number variant part deletion of ATP6V1A gene arr [hg19]3q13.31(113,499,698_113,543,081)x1 as possible pathogenic candidates. The subclinical periodic discharges terminated by verbal stimuli, is a very rare manifestation and needs particular attention. External modulation of ictal-appearing EEG patterns is important to identify stimulus terminated EEG patterns.

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来源期刊
Clinical EEG and Neuroscience
Clinical EEG and Neuroscience 医学-临床神经学
CiteScore
5.20
自引率
5.00%
发文量
66
审稿时长
>12 weeks
期刊介绍: Clinical EEG and Neuroscience conveys clinically relevant research and development in electroencephalography and neuroscience. Original articles on any aspect of clinical neurophysiology or related work in allied fields are invited for publication.
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