John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

A case of perioral myoclonia with absences and its evolution in adulthood? Volume 20, numéro 3, June 2018

Illustrations

  • Figure 1
  • Figure 2
  • Figure 3
Auteurs
1 Health of Science University, Umraniye Education and Research Hospital, Department of Neurology, Istanbul,
2 Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, Istanbul, Turkey
* Correspondence: Reyhan Surmeli Department of Neurology, Health of Science University, Umraniye Education and Research Hospital, Umraniye, Istanbul, Turkey
  • Mots-clés : perioral myoclonia with absences, idiopathic (genetic) generalised epilepsy, clinical features, electrographic features
  • DOI : 10.1684/epd.2018.0978
  • Page(s) : 195-9
  • Année de parution : 2018

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.