Clinical insights into juvenile myoclonic epilepsy: Our experience

Yıl 2024, , 217 - 223, 29.05.2024

Saliha Yavuz Eravcı , Ahmet Güven , Burcu Çalışkan , Abdullah Canbal , Hüseyin Çaksen

https://doi.org/10.21673/anadoluklin.1422939

Öz

Aim: Juvenile Myoclonic Epilepsy (JME) is predominantly observed during adolescence, characterized by myoclonic jerks exacerbated by sleep deprivation. Generalized tonic-clonic (GTC) and absence seizures are also common in JME. Patients are often photosensitive and usually require long-term treatment. This study aims to retrospectively evaluate the clinical, demographic, and electroencephalography (EEG) findings of patients diagnosed with JME at our Pediatric Neurology Clinic.

Methods: Patients who were followed up at the Department of Pediatric Neurology between 2017-2022, diagnosed with JME based on clinical and EEG findings, and had at least one year of follow-up were included in this study. The clinical characteristics of the patients, as well as their diagnostic and follow-up EEG results, were retrospectively reviewed.

Results: Of the patients, 12 (55%) were female and 10 (45%) were male. The mean age of the patients was 17±1 (range 14-18) years, and the average age at first seizure was 13±2 (range 12-16) years. When examining the types of seizures in our cases; 12 (55%) had myoclonic and GTC seizures, 4 (18%) had a combination of myoclonic-GTC-absence, and 6 (27%) had isolated myoclonic seizures. EEG results showed that 6 (27%) of the patients had spike and multiple spike waves at 3-5.5 Hz during sleep, while the remaining 16 (73%) had these during wakefulness. Fourteen (64%) of the patients responded to photic stimulation. Six (27%) of the patients had a first-degree relative with a history of epilepsy. A significant association was found between the presence of photosensitivity and family history of epilepsy (p=0.03).

Conclusion: Juvenile myoclonic epilepsy is a type of epilepsy observed in the adolescent period, characterized by myoclonic jerks and photosensitivity. In patients with JME who have a family history of epilepsy, photosensitivity is more commonly observed

Anahtar Kelimeler

Adolescent, myoclonic epilepsy, photosensitivity

Etik Beyan

eklenmiştir

Destekleyen Kurum

yok

Juvenil miyoklonik epilepsi üzerine klinik deneyimimiz

Öz

Amaç: Juvenil Miyoklonik Epilepsi (JME) daha çok ergenlik döneminde ortaya çıkan, uykusuzlukla tetiklenen miyoklonik jerklerin hakim olduğu kliniktir. JME’de jeneralize tonik-klonik (JTK) ve absans nöbetler görülebilmektedir. Hastalar çoğunlukla fotosensitiftir ve genelde uzun süreli tedavi gereklidir. Bu çalışmada Çocuk Nöroloji kliniğimizde JME tanısıyla takipli hastalarımızın klinik, demografik ve elektroensefalografi (EEG) bulgularının retrospektif olarak değerlendirilmesi amaçlanmıştır.

Yöntemler: Çocuk Nöroloji Kliniği’nde 2017-2022 yılları arasında takip edilen, klinik ve EEG bulgularıyla JME tanısı alan ve en az 1 yıl takibi olan olgular çalışmaya dahil edilmiştir. Hastaların klinik özellikleri, tanı ve takipteki EEG sonuçları geriye dönük olarak incelenmiştir.

Bulgular: Hastaların 12’si (% 55) kız, 10’u (% 45) erkek idi. Hastaların ortalama yaşı 17±1 (14-18) yıl, ilk nöbet geçirme yaşı 13±2(12-16) yıl idi. Olgularımızın nöbet tipleri incelendiğinde; 12 (%55) hastada miyoklonik ve JTK nöbet, 4 (%18) hastada miyoklonik-JTK-absans birlikteliği ve 6 (%27) hastada ise izole miyoklonik nöbetler olduğu tespit edildi. Hastaların EEG sonuçları incelendiğinde; 6 (%27) hastanın uyku, diğer 16 (%73) hastanın uyanıklık EEG sonucunda 3-5,5 Hz diken ve çoklu diken dalgalar mevcuttu. Hastaların 14 (%64) tanesinde fotik stimülasyona cevap vardı. Hastalarımızın 6 (% 27) tanesinin birinci derece akrabalarında epilepsi öyküsü mevcuttu. Fotosensitivite ile ailede epilepsi varlığı arasında anlamlı bir ilişki olduğu saptandı (p=0.03).

Sonuç: Juvenil miyoklonik epilepsi adölesan dönemde görülen, miyoklonilerin ve fotosensitivitenin ön planda olduğu bir epilepsi türüdür. Fotosensitive, ailede epilepsi öyküsü olan JME hastalarında daha sık görülmektedir.

Anahtar Kelimeler

Adölesan, fotosensitivite, miyoklonik epilepsi

Kaynakça

• Dinner DS, Lüders H, Morris III HH, Lesser RP. Juvenile myoclonic epilepsy. In: Lüders H, Lesser RP, editors. Epilepsy: electroclinical syndromes. Springer; 1987. p. 131-49.
• Janz D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand. 1985;72(5):449-59.
• Wolf P, Yacubian EMT, Avanzini G, et al. Juvenile myoclonic epilepsy: a system disorder of the brain. Epilepsy Res. 2015;114:2-12.
• Badawy RAB, Macdonell RA, Jackson GD, Berkovic SF. Why do seizures in generalized epilepsy often occur in the morning? Neurology. 2009;73(3):218-22.
• Wheless JW, Kim HL. Adolescent seizures and epilepsy syndromes. Epilepsia. 2002;43:33-52.
• Baykan B, Wolf P. Juvenile myoclonic epilepsy as a spectrum disorder: a focused review. Seizure. 2017;49:36-41.
• Wirrell E, Camfield C, Camfield P, et al. Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy. Neurology. 1996;47(4):912-8.
• Guaranha MS, de Araujo Filho GM, Lin K, et al. Prognosis of juvenile myoclonic epilepsy is related to endophenotypes. Seizure. 2011;20(1):42-8.
• Hiraiwa A, Kobayashi Y, Hojo M, Tohyama J. Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series. Epileptic Disord. 2023;25(1):80-6.
• Assenza G, Lanzone J, Dubbioso R, et al. Thalamic and cortical hyperexcitability in juvenile myoclonic epilepsy. Clin Neurophysiol. 2020;131(8):2041-6.
• Appleton R, Beirne M, Acomb B. Photosensitivity in juvenile myoclonic epilepsy. Seizure. 2000;9(2):108-11.
• Matsuoka H, Takahashi T, Sasaki M, et al. Neuropsychological EEG activation in patients with epilepsy. Brain. 2000;123(2):318-30.
• Uchida CGP, de Carvalho KC, Guaranha MSB, et al. Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis. Seizure. 2015;32:62-8.
• Wandschneider B, Centeno M, Vollmar C, et al. Risk-taking behavior in juvenile myoclonic epilepsy. Epilepsia. 2013;54(12):2158-65.
• Jayalakshmi S, Vooturi S, Bana AK, et al. Factors associated with lack of response to valproic acid monotherapy in juvenile myoclonic epilepsy. Seizure. 2014;23(7):527-32.
• Vollmar C, O’Muircheartaigh J, Barker GJ, et al. Motor system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study. Brain. 2011;134(6):1710-9.
• Cao B, Tang Y, Li J, et al. A meta-analysis of voxel-based morphometry studies on gray matter volume alteration in juvenile myoclonic epilepsy. Epilepsy Res. 2013;106(3):370-7.
• Aydin-Ozemir Z, Terzibasioglu E, Altindag E, et al. Magnetic resonance spectroscopy findings in photosensitive idiopathic generalized epilepsy. Clin EEG Neurosci. 2010;41(1):42-9.
• Delgado-Escueta AV, Koeleman BP, Bailey JN, et al. The quest for juvenile myoclonic epilepsy genes. Epilepsy Behav. 2013;28:52-7.
• Wandschneider B, Centeno M, Vollmar C, et al. Motor co-activation in siblings of patients with juvenile myoclonic epilepsy: an imaging endophenotype? Brain. 2014;137(9):2469-79.
• Hirsch E, French J, Scheffer IE, et al. ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions. Epilepsia. 2022;63(6):1475-99.
• Al-Otaibi F. Safety and efficacy of clonazepam in the treatment of juvenile myoclonic epilepsy: A meta-analysis. J Pharm Bioallied Sci. 2022;14(3):126-31.
• Genton P. Juvenile myoclonic epilepsy today: current definition and limits. JME The Janz synd. 2000.
• Sher K, Sattar RA. Clinical and EEG characteristics of juvenile myoclonic epilepsy. Pak J Med Sci. 2014;30(1):12.
• Baysal L, Bebek N, Baykan B. Fotosensitivite ve Refleks Epilepsiler. Epilepsi: J Turk Epilepsi Soc. 2014;20.
• Penry JK, Dean JC, Riela AR. Juvenile myoclonic epilepsy: long-term response to therapy. Epilepsia. 1989;30:19-23.
• Syvertsen MR, Thuve S, Stordrange BS, Brodtkorb E. Clinical heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years. Seizure. 2014;23(5):344-8.
• Bergey GK. Evidence-based treatment of idiopathic generalized epilepsies with new antiepileptic drugs. Epilepsia. 2005;46:161-8.