Perioral myoclonia with absences: report of 3 cases and literature review
10.3760/cma.j.cn113694-20241126-00761
- VernacularTitle:口周肌阵挛伴失神癫痫3例并文献复习
- Author:
Yingyue DAI
1
;
Jingwen ZUO
1
;
Jiaying ZHANG
1
;
Xiaoqiu SHAO
1
;
Qun WANG
1
;
Ruijuan LYU
1
Author Information
1. 首都医科大学附属北京天坛医院神经病学中心癫痫科，北京100070
- Publication Type:Journal Article
- Keywords:
Epilepsies, myoclonic;
Epilepsy, absence;
Epilepsy;
Electroencephalography
- From:
Chinese Journal of Neurology
2025;58(7):777-788
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and therapeutic effect of perioral myoclonia with absences (PMA), in order to improve the clinicians′ understanding of the disease.Methods:The clinical manifestations during seizures, as well as interictal and ictal electroencephalogram (EEG) features of 3 PMA patients admitted to the Epilepsy Unit, Neurology Center, Beijing Tiantan Hospital, Capital Medical University from May to October 2024 were analyzed. The clinical manifestations, EEG characteristics, differential diagnosis, treatment experience of PMA patients were summarized by retrospective analysis combined with previous literature review.Results:The onset age of these 3 PMA cases was 15, 15, and 7 years, respectively. The prominent manifestation of seizure was perioral myoclonus without disturbance of consciousness. The duration of seizures was brief, less than 10 seconds. PMA can occur several times a day and was prone to present as continuous state of perioral myoclonus. Three patients had rare generalized tonic-clonic seizures (GTCS). The seizures could be controlled by sodium valproate, lamotrigine, levetiracetam, or combined treatment. Fifteen literatures about PMA were retrieved (4 in Chinese and 11 in English). A total of 31 patients (including these 3 patients) were included in the study, of whom 17 were males and 14 were females. The onset age was from 9 months to 34 [7.63 (2.19, 11.00)] years. Perioral myoclonus with varying degrees of disturbance of consciousness was the main seizure type, and 12 patients exhibited continuous state of perioral myoclonus, 24 patients had GTCS. Eight patients had a history of fever convulsion, 6 patients had mental or learning disabilities, and 11 patients had a family history of epilepsy or febrile convulsion. The ictal EEG showed around 3 Hz generalized spike-wave/multiple spike-wave discharges accompanied with synchronous myoelectric bursts. There were no specific abnormalities in physical examination of nervous system and cranial imaging in all the patients. Ten patients were initially diagnosed as focal epilepsy. Nine patients′ seizures were increased or worsened due to improper medication. Valproate, lamotrigine and levetiracetam were the main treatments of PMA, and the seizures of 21 patients were effectively controlled.Conclusions:PMA is clinically characterized by perioral myoclonia with varying degrees of disturbance of consciousness and is easy to be misdiagnosed as focal epilepsy, so it is necessary to use video EEG combined with synchronous electromyography to confirm the diagnosis. PMA should be treated with broad-spectrum antiseizure drugs.
