Surmelı Reyhan, Kurucu Hatice, Yalcın Ayse Destina, Yenı Seher Naz
Health of Science University, Umraniye Education and Research Hospital, Department of Neurology, Istanbul.
Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, Istanbul, Turkey.
Epileptic Disord. 2018 Jun 1;20(3):195-199. doi: 10.1684/epd.2018.0978.
The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video-EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA. Firstly, consciousness was preserved during seizures, with no manifestation of absences. Secondly, regarding the EEG features, in some of the seizures, the perioral motor symptoms were tonic rather than myoclonic. The defining features of POMA are discussed in relation to this case.
罕见的口周肌阵挛伴失神发作综合征（POMA）被描述为一种特发性全身性癫痫的特定类型，其中失神发作伴有突出的口周肌阵挛，这是一种持续存在的症状。我们报告一名52岁男性，因难治性癫痫转诊至我科。典型发作表现为6岁起出现的唇部节律性抽搐，其首次惊厥发作发生在20岁左右。基于视频脑电图记录，我们呈现出两种不同的脑电图模式，且临床表现略有差异，这似乎不符合POMA的典型表现。首先，发作期间意识保留，无失神表现。其次，关于脑电图特征，在某些发作中，口周运动症状为强直性而非肌阵挛性。结合该病例对POMA的定义特征进行了讨论。
