EVALUATION OF CLINICAL, DEMOGRAPHIC AND ELECTROENCEPHALOGRAPHY FINDINGS OF DRAVET SYNDROME PATIENTS

Yıl 2021, Cilt: 84 Sayı: 1, 64 - 67, 15.01.2021

Mahmut Aslan Serdal Güngör

https://doi.org/10.26650/IUITFD.2019.0024

Öz

Objective: Dravet syndrome (DS) is a severe myoclonic epilepsy affecting infants and is classified among epileptic syndromes. Generally, the first seizures begin with febrile diseases during infancy. Cognitive functions and behavior of patients begin to decline from the age of two. In DS, the most common SCN1A mutation is detected. Material and Method: The study included 18 patients with DS who were presented to Inonu University Pediatric Neurology Clinic between 2012 and 2017. We retrospectively evaluated the demographic characteristics, seizure frequency, AED therapies and response to treatment. Results: The mean age of our patients was 4.22±2.12 years. The F/M ratio was 1.57. The age of onset of seizures was 6.7±2.9 months. 77% of damage affecting patients was febrile onset. 77.7% of our patients were from VPA; 66.6% of the patients benefited from BZD, and sodium voltage-gated channel alpha subunit 1 (SCN1A) mutation was detected in all of our patients. Two patients were monozygous twins and three siblings were also monozygous. The same mutation was observed in our sister patients who were monozygous and their age at seizure onset, seizure type, clinical course, and responses to AEDs were similar. The same mutation was observed in three siblings, but the age at the time of seizure, the onset of seizures, the seizure type, clinical course, and response to AEDs were different from each other. Conclusion: If neuromotor developmental retardation is associated with recurrent febrile seizures, DS should be considered among the preliminary diagnoses. Instead of this sentence, the most common cause of Dravet syndrome among these patients is the SCN1A mutation.

Anahtar Kelimeler

Dravet syndrome, febril seizure, epileps, electroencephalography

DRAVET SENDROMLU HASTALARIN KLİNİK, DEMOGRAFİK VE ELEKTROENSEFALOGRAFİ BULGULARININ DEĞERLENDİRİLMESİ

Öz

Amaç: Dravet sendromu (DS) süt çocuğunun ağır myoklonik epilepsisi olup epileptik sendromlar arasında sınıflandırılır. Genelde ilk nöbetler süt çocukluğu döneminde ateşli hastalıklar ile başlar. Hastaların ikinci yaştan itibaren bilişsel işlevleri ve davranışlarında gerileme başlar. DS’da en sık sodium voltage-gated channel alpha subunit 1 (SCN1A) mutasyonu saptanır. Gereç ve Yöntem: Çalışmamıza 2012-2017 yılları arasında İnönü Üniversitesi Pediatrik Nöroloji kliniğine başvuran DS tanılı 18 hasta alındı. Hastalarımızın demografik özellikleri, nöbet sıklıkları, antiepileptik ilaç tedavileri (AEİ) ve tedaviye yanıtları retrospektif olarak değerlendirildi. Sonuçlar: Hastalarımızın ortalama yaşı 4,22±2,12 yıl, erkek/kız oranı 1,57 idi. Hastalarımızın nöbet başlama yaşı 6,7±2,9 ay idi. Hasalarımızın %77’sinde febril başlangıç vardı. Hastalarımızın %77,7’si valproik asitten; %66,6’sı ise benzodiazepinden ve fayda görmüştü. Hastalarımızın tamamında SCN1A geninde mutasyon saptandı. İki kardeş monozigotik ikiz, 3 hastamızda kardeşti. Monozigotik olan kardeş hastalarımızda aynı mutasyon izlenmişti ve bu hastaların nöbet başlama yaşı, nöbet tipi, klinik seyri, AEİ’lara yanıtları benzerdi. Kardeş olan 3 hastamızda aynı mutasyon izlenmişti fakat hastaların nöbet başlama yaşı, nöbetlerin febril başlayıp başlamaması, nöbet tipi, klinik seyri ve AEİ’lara verilen yanıt birbirlerinden farklıydı. Sonuç: Tekrarlayan febril nöbetleri olan hastalarda nöromotor gelişim geriliği de eşlik ediyorsa DS ön tanılar arasında düşünülmeli. Bu hastalardan Dravet sendromuna en sık neden olan SCN1A mutasyonu çalışılmadır.

Anahtar Kelimeler

Dravet sendromu, febril nöbet, epilepsi, elektroensefalografi

Kaynakça

• 1. Muthugovindan D, Hartman LA. Pediatric epilepsy syndromes. Neurologist 2010;16(4):223-37. [CrossRef]
• 2. Okumura A, Watanabe K, Negoro T, et al. Long-term follow-up of patients with benign partial epilepsy in infancy. Epilepsia 2006;47:181-5. [CrossRef]
• 3. Parihar R, Ganesh S. The SCN1A gene variants and epileptic encephalopathies. J Hum Genet 2013;58(9):573- 80. [CrossRef]
• 4. Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE. When should clinicians order genetic testing for Dravet syndrome? Pediatr Neurol 2011;45(5):319-23. [CrossRef]
• 5. Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 2011;134(Pt10):2982-3010. [CrossRef]
• 6. Millichap JJ, Koh S, Laux LC, et al. Child Neurology: Dravet syndrome: when to suspect the diagnosis. Neurology 2009;13(13):e59-62. [CrossRef]
• 7. Kwan P, Arzimanoglou A, Berg AT, Brodie MJ, Allen Hauser W, Mathern G, et al. Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia 2010;51:1069-77. [CrossRef]
• 8. Yildiz EP, Ozkan MU, Uzunhan TA, Bektaş G, Tatlı B, Aydınlı N, Çalışkan M, Özmen M. Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome. J Child Neurol 2019;34(1):33-7. [CrossRef]
• 9. Nordli RD. Epileptic encephalopathies in infancy and early childhood: Overview.In Panayiotopoulos CP.ed. Atlas of Epilepsies. Oxford. Springer-Verlag London Limited 2010. pp.881-3. [CrossRef]
• 10. Ozmen M, Tatlı B, Ekici B. Yenidoğan ve süt çocukluğunun epileptik sendromları. Türk Pediatri Arşivi 2011;46(3):191-5. [CrossRef]
• 11. Covanis A. Myoklonic Epilepsy in infancy. In Panayiotopoulos CP. ed. Atlas of Epilepsies. Oxford. Springer-Verlag London Limited 2010. pp.871-7. [CrossRef] 12. Nabbout R, Dulac O. Epileptic syndromes in infancy and childhood. Curr Opin Neurol 2008;21(2):161-6. [CrossRef]
• 13. Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 2009;46(3):183-91. [CrossRef]
• 14. Kobayashi K, Ohmori I, Ouchida M, Ohtsuka Y. Dravet syndrome with an exceptionally good seizure outcome in two adolescents. Epileptic Disord 2011;13(3):340-4. [CrossRef]
• 15. Chiron C, Marchand MC, Tran A, et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomized placebocontrolled syndrome-dedicated trial. STICLO study group. Lancet 2000;356(9242):1638-42. [CrossRef]
• 16. Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 2011;134(Pt 10):2982-3010. [CrossRef]
• 17. Chieffo D, Battaglia D, Lettori D, Del Re M, Brogna C, Dravet C, et al. Neuropsychological development in children with Dravet syndrome. Epilepsy Res 2011;95(1- 2):86-93. [CrossRef]