Clinical insights into juvenile myoclonic epilepsy: Our experience

Year 2024, Volume: 29 Issue: 2, 217 - 223, 29.05.2024

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

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

Abstract

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

Keywords

Adolescent, myoclonic epilepsy, photosensitivity

Ethical Statement

eklenmiştir

Supporting Institution

yok

Juvenil miyoklonik epilepsi üzerine klinik deneyimimiz

Abstract

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.

Keywords

Adölesan, fotosensitivite, miyoklonik epilepsi

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