Bir Türk hasta kohortunda jüvenil absans epilepsi tanılı hastaların klinik ve elektrofizyolojik özellikleri

Yıl 2022, , 704 - 707, 31.12.2022

Mesut Güngör , Merve Öztürk , Adnan Deniz , Defne Alikılıç , Ömer Karaca , Bülent Kara

https://doi.org/10.54005/geneltip.1190790

Öz

Juvenil absans epilepsisi, genellikle 9-13 yaşları arasında başlayan ve ağırlıklı olarak absans nöbetlerin görüldüğü ancak takipte motor nöbetlerin de eşlik edebileceği genetik jeneralize epilepsiler grubunda yer alan bir epileptik sendromdur. Çalışmamızda 2010-2022 yılları arasında juvenil absans epilepsi tanısı ile kliniğimizde takip edilen 33 hasta retrospektif olarak değerlendirildi. 13'ü klinik veya elektrofizyolojik bilgilerinin yetersiz olması, izlem sırasında başka bir epileptik sendrom tanısı alması nedeniyle çalışma dışı bırakıldı. Değerlendirmeye alınan 20 hastanın yaş ortalaması 16.8 idi; Ortalama nöbet başlangıç yaşı 10.6 yıldı. Tüm hastalarda günde bir defadan fazla görülmeyen absans nöbetleri, %40'ında ek jeneralize tonik-klonik nöbetler ve %20'sinde elektroensefalografide jeneralize deşarjlara ek olarak fokal elektroensefalografik anormallikler vardı. Tedavisi sonlandırılan 5 hastanın 3'ünde nöbetler tekrarladı. Halihazırda hastaların %85'inin valproik asit ile tedaviye devam ettiği ve monoterapinin yeterli olduğu bulundu. Elektrofizyolojik olarak tanı anında jeneralize deşarjlar varken, takipte fokal bulgular ortaya çıkma eğilimindedir; Bunun da uzun dönem takipli hastalarda nöbet nüksünün ve tedavi seçeneklerinin değerlendirilmesinde önemli olduğu bulundu.

Anahtar Kelimeler

Jüvenil absans epilepsi, Elektroensefalografi, Valproik asit

Clinical and Electrophysiological Characteristics of Patients with Juvenile Absence Epilepsy in a Turkish Cohort

Öz

Juvenile absence epilepsy is an epileptic syndrome that usually begins between the ages of 9-13 and is classified in the group of genetic generalized epilepsies, in which absence seizures are seen mainly but may also be accompanied by motor seizures in the follow-up. In our study, 33 patients who were followed up in our clinic with the diagnosis of juvenile absence epilepsy between 2010-2022 were evaluated retrospectively. Thirteen of them were excluded from the study due to insufficient clinical or electrophysiological knowledge, being diagnosed with another epileptic syndrome during follow-up. The mean age of the 20 patients included in the evaluation was 16.8 years; The mean age of seizure onset was 10.6 years. All patients had absence seizures, which were not seen more often than once a day, 40% had additional generalized tonic-clonic seizures, and 20% had focal electroencephalographic abnormalities in addition to generalized discharges on electroencephalography. Seizures recurred in 3 of 5 patients whose treatment was terminated. It was found that currently 85% of the patients continued treatment with valproic acid and monotherapy was sufficient. While there are generalized discharges at the time of diagnosis electrophysiologically, focal findings tend to occur in the follow-up; This was also found to be important in the evaluation of seizure recurrence and treatment options in patients with long-term follow-up.

Anahtar Kelimeler

Juvenile absence epilepsy, Electroencephalography, Valproic acid

Kaynakça

• 1. Fisher RS, Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy: Position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58(4):522-530. doi: 10.1111/epi.13670
• 2. Wirrell EC, Nabbout R, Scheffer IE, et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE task force on nosology and definitions. Epilepsia 2022;63(6):1333-1348. doi: 10.1111/epi.17237
• 3. Nordli Jr. DR. Idiopathic generalized epilepsies recognized by the International League Against Epilepsy. Epilepsia. 2005;46(9):48-56. doi: 10.1111/j.1528-1167.2005.00313.x
• 4. Asadi-Pooya AA, Farazdaghi M. Seizure outcome in patients with juvenile absence epilepsy. Neurol Sci. 2016;37(2):289-292. doi: 10.1007/s10072-015-2411-y
• 5. Healy L, Moran M, Singhal S, O’Donoghue MF, Alzoubidi R, Whitehouse WP. Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy. Seizure. 2018;59:116-122. doi: 10.1016/j.seizure.2018.05.015
• 6. Wheless JW, Clarke DF, Arzimanoglou A, Carpenter D. Treatment of pediatric epilepsy: European expert opinion, 2007. Epileptic Disorders. 2007;9(4):353-412. doi:10.1684/epd.2007.0144
• 7. Tovia E, Goldberg-Stern H, Shahar E, Kramer U. Outcome of children with juvenile absence epilepsy. J Child Neurol. 2006;21(9):766-768. doi:10.1177/08830738060210092101
• 8. Boesen MS, Børresen ML, Christensen SK, et al. School performance and psychiatric comorbidity in juvenile absence epilepsy and juvenile myoclonic epilepsy: A Danish population-based cohort study. J Neurol. 2022;269(9):4997-5007. doi:10.1007/s00415-022-11147-2
• 9. Thakran S, Guin D, Singh P, et al. Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. Int J Mol Sci. 2020;21(20):7784. doi:10.3390/ijms21207784
• 10. Aiguabella Macau M, Falip Centellas M, Veciana de Las Heras M, et al. Long term prognosis of juvenile absence epilepsy. Neurologia. 2011;26(4):193-199. doi:10.1016/j.nrl.2010.09.005
• 11. Danhofer P, Brázdil M, Ošlejšková H, Kuba R. Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. Seizure. 2014;23(6):443-447. doi:10.1016/j.seizure.2014.03.002
• 12. Betting LE, Mory SB, Lopes-Cendes I, et al. EEG features in idiopathic generalized epilepsy: Clues to diagnosis. Epilepsia. 2006;47(3):523-528. doi: 10.1111/j.1528-1167.2006.00462.x.
• 13. Ferrie CD. Idiopathic generalized epilepsies imitating focal epilepsies. Epilepsia. 2005;46(s9):91-95. doi: 10.1111/j.1528-1167.2005.00319.x.
• 14. Japaridze G, Kasradze S, Lomidze G, et al. Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. Clin. Neurophysiol. 2016;127(2):1182-1187. doi: 10.1016/j.clinph.2015.11.048.
• 15. Tezer FI, Sahin G, Ciger A, Saygi S. Focal EEG findings in juvenile absence syndrome and the effect of antiepileptic drugs. Clin EEG Neurosci. 2008;39(1):33-38. doi: 10.1177/155005940803900111.
• 16. Betting LE, Mory SB, Li LM, et al. Voxel-based morphometry in patients with idiopathic generalized epilepsies. NeuroImage. 2006;32(2):498-502. doi: 10.1016/j.neuroimage.2006.04.174.
• 17. Tondelli M, Vaudano AE, Ruggieri A, Meletti S. Cortical and subcortical brain alterations in juvenile absence epilepsy. NeuroImage: Clinical. 2016;12:306-311. doi: 10.1016/j.nicl.2016.07.007.
• 18. Brigo F, Igwe SC, Lattanzi S. Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. Cochrane Database Syst Rev. 2021;2021(1):CD003032. doi: 10.1002/14651858.CD003032.pub4.
• 19. Hughes JR. Absence seizures: A review of recent reports with new concepts. Epilepsy Behav. 2009;15(4):404-412. doi: 10.1016/j.yebeh.2009.06.007.
• 20. Nolan D, Lester SG, Rau SM, Shekkhaas RA. Clinical Use and Efficacy of Levetiracetam for Absence Epilepsies. J Child Neurol. 2019;34(2):94-98. doi: 10.1177/0883073818811511.