A case of perioral myoclonia with absences and its evolution in adulthood?

Epileptic Disord

Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, Istanbul, Turkey.

Published: June 2018

AI Article Synopsis

  • * A case study of a 52-year-old man highlights his long history of treatment-resistant epilepsy, starting with lip twitching at age six and convulsive seizures by age 20.
  • * The report details EEG observations showing two unusual seizure patterns: preserved consciousness without absence seizures and instances where lip twitching was tonic instead of the typical myoclonic movements associated with POMA.

Article Abstract

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.

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http://dx.doi.org/10.1684/epd.2018.0978DOI Listing

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