Sree Chitra Tirunal Institute for Medical Sciences and Technology, Dept of Neurology, Thiruvananthapuram, Kerala, India.
Epileptic Disord. 2021 Apr 1;23(2):313-324. doi: 10.1684/epd.2021.1265.
Perioral myoclonia with absences (POMA) is not recognized as a unique electro-clinical syndrome and studies suggest its inclusion under the genetic generalized epilepsy (GGE) spectrum. The aim of this study was to explore the prevalence and electro-clinical homogeneity of this disorder in an epilepsy monitoring unit. Between 2013 and 2019, among drug-resistant epilepsy patients who were referred for video-telemetry, those diagnosed with POMA based on the presence of documented absences with prominently observed peri-oral muscular contractions accompanied by generalized EEG features were included. Among 62 patients who were diagnosed with absence epilepsy, five finally met the criteria for POMA (8.1%) with late childhood or adolescent onset of epilepsy. Four (80%) had a referral diagnosis of focal epilepsy based on historical focal features with exacerbation of seizures on oxcarbazepine. All five patients demonstrated brief absences with orbicularis oris muscle contractions accompanied by subtle focal phenomenology. One patient had concurrent axial-appendicular myoclonic jerks precipitated by hyperventilation. While four patients had strikingly identical interictal and ictal characteristics of typical absence epilepsy, one patient demonstrated additional atypical generalized polyspike discharges without a "dart-dome" morphology. Therapeutic response to introduction of sodium valproate was noted in all five patients. Features that were not consistent with the diagnosis were apparent in one patient who was re-classified with combined focal and generalized epilepsy. Differentiating aspects in this patient included multifocal discharges, background slowing, fast-recruiting ictal rhythms and valproate resistance. This is one of the largest case series of POMA. This entity, which falls under the spectrum of GGE, remains under-diagnosed and its distinctive electro-clinical features need to be recorded in order to prevent misclassification as focal epilepsy of probable opercular origin. Background-slowing, atypical ictal rhythms and valproate unresponsiveness are not consistent with the diagnosis of this unique absence epilepsy. [Published with video sequences].
口周肌阵挛伴失神（POMA）不被认为是一种独特的电临床综合征，研究表明其属于遗传性全面性癫痫（GGE）谱。本研究旨在探讨该障碍在癫痫监测单元中的患病率和电临床同质性。在 2013 年至 2019 年间，在因视频遥测而转介的耐药性癫痫患者中，那些根据存在记录的失神且明显观察到伴有全身性 EEG 特征的口周肌肉收缩而被诊断为 POMA 的患者被纳入研究。在 62 例被诊断为失神性癫痫的患者中，最终有 5 例符合 POMA 的标准（8.1%），其癫痫发作始于童年后期或青少年期。有 4 例（80%）基于既往局灶性特征且奥卡西平治疗后发作恶化而被转诊诊断为局灶性癫痫。所有 5 例患者均表现为短暂失神伴口轮匝肌收缩，伴有轻微的局灶性表现。1 例患者因过度通气而出现轴向-附肢肌阵挛性抽搐。虽然 4 例患者的发作间期和发作期均具有典型失神性癫痫的明显相同特征，但 1 例患者表现出附加的非典型全面性多棘波放电，没有“尖峰-穹窿”形态。所有 5 例患者在引入丙戊酸钠后均有治疗反应。1 例患者的诊断与上述情况不符，重新归类为局灶性和全面性癫痫合并发作。该患者的鉴别特征包括多灶性放电、背景减慢、快募集发作节律和丙戊酸钠耐药。这是 POMA 最大的病例系列之一。该实体属于 GGE 谱，仍未得到充分诊断，为了防止误诊为可能起源于盖部的局灶性癫痫，需要记录其独特的电临床特征。背景减慢、非典型发作节律和丙戊酸钠无反应性与该独特失神性癫痫的诊断不符。[发表伴有视频序列]。
