Jeavons syndrome

 

Presentation

Also called eyelid myoclonia with absences (EMA), manifesting in preschool or young children; more in girls. Development and cognition are not affected.

 

Brief absences lasting 2 – 3 seconds (always <6 sec) only can be easily missed in early weeks, but clusters of brief absences associated ‘eyelid myoclonia’ draws attention.

During the brief absences, there is quick uprolling of eyes with backward jerking of head for a few beats in a rhythmical manner. These can be triggered by closure of eyes or flickering lights (photosensitive). Sometimes, myoclonus or GTCs are noticed.

 

The ‘eyelid myoclonia is different to flickering of eyelids that is sometimes seen in absence epilepsy where absences last longer (10 – 15 seconds); and frequency increases to up to 30 episodes daily.

 

Differential is motor tics, but video of episodes are helpful.

 

Investigation

Interictal EEG is nearly always abnormal with bursts of fast (3-6 Hz) generalized spike-and-wave activity, enhanced by photic stimulation.

 

Management

Seizures respond to Valproate, Ethosuximide or Lamotrigine – alone or their combination to reduce seizures; but complete seizure freedom is rarely achieved.

 

Addition of Clobazam may be considered.

Avoid Carbamazepine or Phenytoin as seizures could worsen.

Seizures persist in to adulthood, but development or cognition is not affected.