Abstracts

We report a tow new cases of [ldquo]peri-oral myoclonia with absence[rdquo], a rare epileptic syndrome recently described by Panayiotopoulos et al (1994), with no effective treatment., Patient 1: A 15-years teenager with no particular personal and family history was referred to our center for [apos]absence[apos] seizures that were refractory to treatment with lamotrigine. Clinical and neurological examinations were normal. His mother highlighted that during the [apos]absence[apos] fits, she noticed labial shivering and twitching. It is also noteworthy that a month after the onset of [apos]absence[apos] seizures, he presented a tonico-clonic fit. Cerebral T2-weighted MRI showed bilateral frontal hypersignal. A video electroencephalogram revealed that peri-oral myoclonia was concomitantly associated with generalised 3-4 Hz spike-waves. We added Sodium valproate to his base-line treatment with lamotrigine. Lamotrigine was subsequently withdrawn.
Patient 2: A 14-years old male (with history of generalised fit at age of 5 years treated with sodium valpoate for 7 years ) presented for perioral myoclonia with loss of consciousness followed, 3 weeks later, by one episode of GTCS. A video electroencephalogram revealed a peri-oral myoclonia associated with generalised 3-4 Hz spike-waves; Cerebral MRI was normal. At presentation he was treated with sodium valproate. The GTCS was stopped but he has persistence of absence seizures. We added lamotrigine without improvement. Finally the levetiracetam decreased the rate of seizures by 50 %., One month after starting sodium valproate, the first patient had no more absences, and the EEG became normal. The second patient showed 50% reduction of absence after starting levetiracetam., We report an [apos]atypical[apos] and typical new case of [ldquo]peri-oral myoclonia with absence[rdquo] in one of them abnormal cerebral MRI changes were detected.It could be argued if the first patient is a variant of the condition described by Panayiotopoulos as [ldquo]peri-oral myoclonia with absence[rdquo], with the additional finding of cerebral MRI frontal disorders. Conversely, this patient may be viewed as a case with frontal cerebral abnormalities presenting with peri-oral myoclonia and absence. At the present state of knowledge, it is not known if such a distinction makes any valid difference. However, this observation probably widens the spectrum of findings in this newly described entity.
Furthermore, while this condition is known to be refractory to treatment. The first patient respond favourably to sodium valproate and the second to levetiracetam. Our follow-up should, however, be continued beyond the few-month window of opportunity.,