Epilepsy with Eyelid Myoclonias with Photoparoxysmal Response-a Diagnosis Concealed in Other Genetic Generalized Epilepsies
Abstract number :
3.202
Submission category :
4. Clinical Epilepsy / 4B. Clinical Diagnosis
Year :
2021
Submission ID :
1825920
Source :
www.aesnet.org
Presentation date :
12/6/2021 12:00:00 PM
Published date :
Nov 22, 2021, 06:51 AM
Authors :
ifrah Zawar, MD - University of Virginia; Martha Garcia Toribio - Cleveland clinic ohio; Xiaowei Xu - The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzen, China; Rawyah Alnakhli - 3. Dr Sulaiman AlHabib Medical Group, Riyadh City, Saudi Arabia; Daniela Benech - Cleveland clinic ohio; Ahsan Moosa Naduvil - Cleveland clinic ohio; Elaine Wyllie - Cleveland clinic ohio; Richard Burgess - Cleveland clinic ohio; Prakash Kotagal - Cleveland clinic ohio; Deepak Lachhwani - Cleveland clinic ohio; Ajay Gupta - Cleveland clinic ohio; Elia Pestana Knight - Cleveland clinic ohio
Rationale: Epilepsy with eyelid myoclonias(EMA) or Jeavons Syndrome is a genetic generalized epilepsy characterized by eyelid myoclonia, eye-closure sensitivity and photosensitivity. EMA is a common childhood epilepsy syndrome which accounts for up to 12.9% of genetic generalized epilepsies, and 2.7% of all epilepsies. Data on EMA patients who specifically present with photoparoxysmal response on EEG is lacking. EMA is an under-recognized syndrome which is frequently misclassified as another genetic generalized epilepsy. The main objective of our research is to describe the occurrence of EMA versus other genetic generalized epilepsies among patients with photoparoxysmal response and evaluate their distinguishing features.
Methods: We retrospectively identified all patients who had photoparoxysmal response on EEGs performed at Cleveland clinic between 01/01/2012 and 12/31/2019. Initial epilepsy diagnosis and clinical data were collected. EEGs were reviewed for eyelid myoclonia and eye-closure-sensitivity which were used as main diagnostic clues for EMA. Diagnosis of many patients were thus revised as EMA.
Results: Of 249 patients with photoparoxysmal response, 70 (28.1%) met EMA criteria. Sixty-two (88.6%) were females. Mean age of onset of epilepsy was 7 years (+7.9) and 120 (48.2%) had other genetic generalized epilepsies. Fifty-four (77.1%) EMA patients were misclassified as another epilepsy of whom 40 (57.1%) were diagnosed as childhood absence epilepsy or Juvenile Myoclonic Epielspy so we compared EMA with these syndromes. Female preponderance, drug refractoriness, older age of onset and generalized myoclonia were more common in EMA than childhood absence epilepsy. Earlier age of onset, absence seizures, and lack of generalized myoclonic jerks were more common EMA than juvenile myoclonic epilepsy.
Conclusions: Our study describes the occurrence of EMA versus other genetic generalized epilepsies in photoparoxysmal response patients, identified EMA patients who were misclassified as other genetic generalized epilepsies such as childhood absence epilepsy and juvenile myoclonic epilepsy and analyzed their distinguishing clinical and EEG features. This study identified certain additional distinguishing features of EMA which may be used in addition to EMA diagnostic criteria to help make the accurate diagnosis to help facilitate appropriate management strategies. Our study also highlights other clinical and electrographic features of EMA and therapeutic options that maybe utilized especially in refractory cases.
Funding: Please list any funding that was received in support of this abstract.: None.
Clinical Epilepsy