Abstracts

Rationale: Jeavons syndrome (JS) is a childhood onset epilepsy syndrome characterized by frequent occurrence of eyelid myoclonia with or without brief absences, generalized epileptiform activity triggered by eye closure, generalized photoparoxysmal EEG response, and history of visually induced seizures. The correct diagnosis is very important to discuss the prognosis of the epilepsy in these patients. JS may be misdiagnosed as JME. We aimed to study the electroclinical characteristics and treatment of patients with JS who have been misdiagnosed as JME. Methods: Cases were identified from the Cleveland Clinic Epilepsy Center's EEG database. Results of all EEGs performed between 2012 and 2015 were searched for patients with a diagnosis of JME who had positive photoparoxysmal response. EEGs of these patients were reviewed for the presence of eye closure related activation of epileptiform discharges which was used as the key diagnostic clue for the diagnosis of JS. Clinical characteristics and treatment of these patients were reviewed. Results: Ten patients (35%) with electroclinical characteristics of JS were found in a cohort of 29 patients with photoparoxysmal response and JME. Age of epilepsy onset was between 1.16-13 years (mean 5.86 years). All patients were females (100%). All 10 patients had eyelid myoclonia. Other seizure types include myoclonic (6/10), absences (2/10), and generalized tonic clonic seizure (GTCS) (2/10). Initial seizure was a GTCS in 3 patients (30%). Epilepsy was medically refractory in 4/10 patients. EEG analysis showed that polyspikes elicited by eye closure were located in the posterior quadrant in 4 patients and 2 of them had refractory epilepsy. Polyspikes elicited by eye closure were located in the anterior head region in 6 patients and 2 patients were medically refractory. Six patients with controlled epilepsy were treated with monotherapy (4/6) with valproate or Ethosuximide or Lamotrigine or Levetiracetam, no drugs-new diagnosis (1/6) and combination of valproate and Ethosuximide (1/6). Four patients with refractory epilepsy were on polytherapy with Clobazam/Lamotrigine/Ethosuximide (1/4) Lamotrigine/valproate (1/4) and Levetiracetam/ Clonazepam (1/4) and valproate/ethosuximide (1/4). Conclusions: JS could be viewed to be in the spectrum of JME due to overlap of electroclinical features. One-third of patients with JME and photoparoxysmal response had electroclinical features consistent with JS. These patients had earlier seizure onset and two distinctive electrographic patterns (polyspikes with anterior or posterior predominance) elicited by eye closure that distinguish them from patients with JME. Also most of the patients who were seizure free were in monotherapy indicating that seizures can be controlled. Long term follow up of a larger cohort will clarify if the electrographic difference found in these patients is indicative of a different epilepsy syndrome and its importance for treatment assignment and prognosis of the disease. Funding: none