Authors :
Presenting Author: Ryan Nguyen, MD, MEng – Mayo Clinic
Elaine Wirrell, MD – Mayo Clinic, Rochester MN, USA.
Jeffrey Britton, MD – Mayo Clinic, Rochester MN, USA.
Lily C. Wong-Kisiel, MD – Mayo Clinic, Rochester, MN, USA.
Kelsey M. Smith, MD – Mayo Clinic, Rochester MN, USA.
Rationale:
The purpose of this study was to characterize eyelid myoclonic status epilepticus (EMSE) in patients with epilepsy with eyelid myoclonia (EEM). EEM, previously known as Jeavons syndrome, is a genetic generalized epilepsy syndrome with childhood-onset and a 2:1 female predominance characterized by eyelid myoclonia (EM), eye-closure induced EEG paroxysms or seizures, and photosensitivity. EMSE can occur in 20% of patients with EEM, but literature about the circumstances and treatment of EMSE is sparse.
Methods:
This is a single center retrospective chart review of patients with EEM who had EMSE. Mayo Data Explorer EHR search application was used using search terms “eyelid myoclonia” and “Jeavons syndrome.” Those who met the diagnostic criteria for EEM and had EEG reports documenting status epilepticus were included. EMSE was defined as an episode of continuous or recurrent eyelid myoclonus without return to baseline lasting longer than 10 minutes. Patient demographics, seizure risk factors, prior history of/episodes concerning for status epilepticus, EMSE details, and EEG findings were abstracted. Video-EEGs from the EMSE episodes were reviewed by a board-certified epileptologist (KMS).
Results: Six patients (four females) were identified with EEM and EMSE. Mean age of epilepsy onset was 6.1 years (range 2-12). All patients had drug-resistant epilepsy. Three patients underwent genetic testing: one patient had 8q deletion (chromosomal microarray) and the other two had normal genetic testing (whole genome sequencing). A total of 11 EMSE episodes were identified among the six patients in eight EEG recordings. One patient had four EMSE episodes in three total EEG (one EEG recording captured two episodes), and one patient had three EMSE episodes in one EEG recording. All episodes of EMSE were associated with altered awareness. Mean age at the time of the recorded EMSE was 14 years (range 10-22). Average length of EMSE was 25.4 minutes (range 13-45 minutes). Four of six patients had prior clinical history concerning for possible EMSE, including episodes of confusion upon awakening.
Two EMSE episodes were in the setting of withdrawal of antiseizure medications. All episodes of EMSE were associated with generalized epileptiform activity on EEG, typically in the form of generalized polyspikes and polyspike and wave discharges. During some of the episodes, there were frequent eye-closures prior to the epileptiform activity with brief periods of intermixed normal appearing background activity.
Five EMSE episodes occurred upon awakening. Five EMSE episodes were treated with benzodiazepines, and one was treated with IV valproate load with complete resolution. Neither treated nor untreated EMSE episodes progressed to generalized tonic-clonic (GTC) seizures.
Conclusions:
We describe EMSE in six patients with EEM. Benzodiazepines both PO and IV were effective in stopping EMSE, and none progressed to GTC seizures. Some of the patients had a history of confusion upon awakening, which was confirmed to be EMSE on EEG. Further study could help identify those at risk for EMSE and establish treatment recommendations.
Funding: This research received no specific grant from any funding agency.