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

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.

Unmasking the entity of ‘drug‐resistant’ perioral myoclonia with absences: the twitches, darts and domes!

“…Patient 6, detailed in this study to demonstrate the problems in diagnosing POMA, had a distinctive course with a clinical history showing a later appearance of myoclonic jerks, interictal and ictal EEG abnormalities that favoured a combined focal and generalized epilepsy. The ictal semiology, consisting of focal features and demonstrable asymmetric facial myoclonia, along with a bifrontal and generalized 10–12‐Hz ictal rhythm without a ‘dart‐dome’ pattern, ( figure , video sequence 5A, B ), as has previously been reported in patients with POMA [6]. With an initial diagnosis of resistant GGE and POMA, the patient failed to respond to trials of valproate and withdrawal of carbamazepine.…”

“…Based on the atypical features noted in Patient 6, it is pertinent to note that the peri‐oral motor manifestations ( video sequence 5A, B ), similar to opercular‐onset focal epilepsy, have been associated with a metamorphic generalized 10–12‐Hz sharp‐wave rhythm without a consistent focal onset, as described previously in a case report [6]. The latter was associated with a more sustained tonic nature of facial contraction or ‘chapeau de gendarme’ which was not apparent in our patient.…”

“…• 315 pattern, (figure 5, video sequence 5A, B), as has previously been reported in patients with POMA [6]. With an initial diagnosis of resistant GGE and POMA, the patient failed to respond to trials of valproate and withdrawal of carbamazepine.…”

“…Despite its association with generalized discharges which have a GGE-like morphology, the presence of clinical features, which point towards focal-onset motor seizures with impaired awareness or EEG asymmetry, frequently lead to misdiagnosis as focal epilepsy [4]. The actual prevalence of this entity in epilepsy care centres is sparsely reported in the literature and few case reports with POMA exist; more studies with video-telemetry recordings with documentation of distinctive facial myoclonia are necessary in order to recognize this syndrome [5,6]. Problems and pitfalls in the diagnosis of this syndrome are also rarely discussed.…”