Русский журнал детской неврологии. 2014; 9: 6-13
Электроэнцефалографические изменения при синдроме Драве
https://doi.org/10.17650/2073-8803-2014-9-4-6-13Аннотация
Синдром Драве (СД, тяжелая миоклоническая эпилепсия младенчества) – эпилептическая энцефалопатия с дебютом на первом году жизни, проявляющаяся фебрильными и афебрильными генерализованными и фокальными приступами, с наличием миоклонических пароксизмов в типичных случаях, отставанием в психическом развитии и резистентностью к антиэпилептической терапии. Заболевание было впервые описано Ch. Dravet в 1978 г. во Франции, затем подробно Сh. Dravet et al. в 1982 г. В классификации 1989 г. СД занимал особое место, относясь к формам эпилепсии, имеющим как генерализованные, так и фокальные клинические проявления. В проекте современной классификации 2001 г. заболевание относится к эпилептическим энцефалопатиям младенческого возраста. Основная причина развития СД – мутация в гене SCN1A, выявляемая у большинства (но не у всех) пациентов. Предполагается, что существуют и некоторые другие мутации, детерминирующие развитие СД, в частности GABRG2-мутация.
Для СД характерен полиморфизм эпилептических приступов: фебрильные судороги, фокальные моторные (включая гемиклонические и вторично-генерализованные), генерализованные тонико-клонические, альтернирующие гемиконвульсии, миоклонические, атипичные абсансы, фокальные диалептические приступы, а также эпилептический статус. Прогноз заболевания тяжелый. Приступы в большинстве случаев продолжаются во взрослой жизни, хотя с меньшей частотой, чем в детстве. Авторы подробно рассматривают вопросы этиологии и патогенеза, клинические проявления, диагностику и лечение СД. Особый акцент сделан на патологических изменениях на электроэнцефалограмме (ЭЭГ) у пациентов с СД. Отчетливое замедление основной активности фоновой записи, преобладание мультирегиональной эпилептиформной активности, региональное замедление и выраженная фотосенситивность (паттерн-сенситивность) – наиболее прогностически неблагоприятные ЭЭГ-паттерны при СД.
Список литературы
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5. Bureau M., Dalla Bernardina B. Electroencephalographic characteristics of Dravet syndrome. Epilepsia 2011;52 Suppl 2:S13–23.
6. Caraballo R.H., Fejerman N. Dravet syndrome: a study of 53 patients. Epilepsy Res 2006;70 Suppl 1:S231–8.
7. Catarino C.B., Liu J.Y., Liagkouras I. et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 2011;134(Pt 10):2982–3010.
8. Ceulemans B., Boel M., Claes L. et al. Severe myoclonic epilepsy in infancy: toward an optimal treatment. J Child Neurology 2004;19(7):516–21.
9. Chiron C., Marchand M.C., Tran A. et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet 2000;356(9242):1638–42.
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18. Dravet Ch., Daquin G., Battaglia D. Severe myoclonic epilepsy of infancy (Dravet syndrome). In: Long-term evolution of epileptic encephalopathies. M. Nikanorova, P. Genton, A. Sabers (еds.). London: John Libbey, 2009. Pр. 29–38.
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22. Giovanardi-Rossi P., Santucci M., Gobbi G. et al. Long-term follow-up of severe myoclonic epilepsy in children. Brain Dev 1990;12:608.
23. Guerrini R., Bonanni P., Parmeggiani L. et al. Pathophysiology of myoclonic epilepsies. Adv Neurol 2005;95:23–46.
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25. Kanazawa O., Shirane S. Can early zonizamide medication improve the prognosis in the core and peripheral types of severe myoclonic epilepsy in infants? Brain Dev 1999;91:503.
26. Marini C., Mei D., Temudo T. et al. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 2007;48(9):1678–96.
27. Misulis K.E. Atlas of EEG, seizure semiology and management. Oxford University Press, 2014. P. 230.
28. Nieto-Barrera M., Candau R., Nieto-Jimenez M. et al. Topiramate in the treatment of severe myoclonic epilepsy in infancy. Seizure 2000;9(8):590–4.
29. Oguni H., Hayashi K., Awaya Y. et al. Severe myoclonic epilepsy in infants – a review based on the Tokyo Women’s Medical University series of 84 cases. Brain Dev 2001;23(7):736–48.
30. Ohki T., Watanabe K., Negoro K. et al. Severe myoclonic epilepsy in infancy: evolution of seizures. Seizure 1997;6(3):219–24.
31. Panayiotopoulos C.P. A clinical guide to epileptic syndromes and their treatment. 2nd ed. London: Springer-Verlag, 2007. Pр. 231–5.
32. Ragona F., Brazzo D., De Giorgi I. et al. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain 2010;32(1):71–7.
33. Ragona F., Granata T., Dalla-Bernardina B. et al. Cognitive development in Dravet syndrome: a retrospective, multi-center study of 26 patients. Epilepsia 2011;52(2):386–92.
34. Siegler Z., Barsi P., Neuwirth M. et al. Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study. Epilepsia 2005:46(5):704–8.
Russian Journal of Child Neurology. 2014; 9: 6-13
ELECTROENCEPHALOGRAPHIC CHANGES WITH DRAVET SYNDROME
https://doi.org/10.17650/2073-8803-2014-9-4-6-13Abstract
Dravet syndrome (DS, severe myoclonic epilepsy of early infancy) is epileptic encephalopathy with onset in the first year of life, manifested with febrile and afebrile generalized and focal seizures, with the presence of myoclonic paroxysms in typical cases, mental retardation, and resistance to antiepileptic therapy. The disease was for the first time described by Ch. Dravet in 1978 in France, then, in details, by Сh. Dravet et al. in 1982. In the classification of 1989, DS held a particular place being attributed to the forms of epilepsy that have both generalized and focal clinical manifestations. According to Proposed diagnostic scheme for people with epileptic seizures and with epilepsy (2001), this disease is attributed to epileptic encephalopathies of early infancy. The main reason of DS development is a mutation in the SCN1A gene revealed with most (but not all) patients. It is assumed that there are certain other mutations that determine DS development, in particular, the GABRG2 mutation. Polymorphism of epileptic seizures is typical of the DS: febrile seizures, focal motor (including hemiclonic and secondarily generalized), generalized tonic and clonic, alternating hemiconvulsions, myoclonic, atypical absences, focal dialeptic seizures, as well as epileptic status. The prognosis of the disease is severe. In most cases, seizures continue to occur in adult life but with lower frequency than in childhood. The authors review the issues of etiology and pathogenesis in details, as well as clinical manifestations, diagnostics, and treatment of the DS. A particular emphasis is given to pathological changes on electroencephalogram (EEG) of patients with DS. Distinct slowing of background activity, prevalence of multiregional epileptiform activity, regional slowing, and severe photosensitivity (pattern sensitivity) are the most prognostically unfavorable EEG patterns of the DS.
References
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8. Ceulemans B., Boel M., Claes L. et al. Severe myoclonic epilepsy in infancy: toward an optimal treatment. J Child Neurology 2004;19(7):516–21.
9. Chiron C., Marchand M.C., Tran A. et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet 2000;356(9242):1638–42.
10. Claes L., Del-Favero J., Ceulemans B. et al. De novo mutations in the sodium-channel gene SCN1A causes severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68(6):1327–32.
11. Dalla-Bernardina B., Colamaria V., Capovilla G., Bondavalli S. Nosological classification of epilepsies in the first three years of life. In: Epilepsy: an update on research and treatment. G. Nistico, R. Di Perri, H. Meinardi (eds.). N.Y.: Alan Liss, 1983. Rr. 165–83.
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13. Doose H., Lunau H., Castiglione E., Waltz S. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 1998;29(5):229–38.
14. Dravet Ch. Les epilepsies graves de l’enfant. Vie Med 1978;8:543–8.
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17. Dravet Ch., Bureau M., Oguni H. et al. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Epileptic syndromes in infancy, childhood and adolescence. 4th ed. J. Roger, M. Bureau, Ch. Dravet et al. (eds.). London: John Libbey, 2005. Pr. 89–113.
18. Dravet Ch., Daquin G., Battaglia D. Severe myoclonic epilepsy of infancy (Dravet syndrome). In: Long-term evolution of epileptic encephalopathies. M. Nikanorova, P. Genton, A. Sabers (eds.). London: John Libbey, 2009. Pr. 29–38.
19. Dravet Ch., Guerrini R. Dravet syndrome. Paris: John Libbey Eurotext, 2011. 120 r.
20. Engel J. Seizures and epilepsy. 2nd ed. Oxford University Press, 2013. Pr. 249.
21. Fontana E., Dalla-Bernardina B., Sgro V. et al. Epilessia mioclonica severa (EMS) e/o sindrome di Dravet: studio elettroclinico longitudinale di 53 soggetti. Boll Lega It Epil 2004;125–6:337–40.
22. Giovanardi-Rossi P., Santucci M., Gobbi G. et al. Long-term follow-up of severe myoclonic epilepsy in children. Brain Dev 1990;12:608.
23. Guerrini R., Bonanni P., Parmeggiani L. et al. Pathophysiology of myoclonic epilepsies. Adv Neurol 2005;95:23–46.
24. Guerrini R., Marini C. Epileptic Encephalopathies. In: Epilepsy and epileptic seizures. S. Shorvon, R. Guerrini, M. Cook, S. Lhatoo (eds.). Oxford University Press, 2013. Pr. 177–80.
25. Kanazawa O., Shirane S. Can early zonizamide medication improve the prognosis in the core and peripheral types of severe myoclonic epilepsy in infants? Brain Dev 1999;91:503.
26. Marini C., Mei D., Temudo T. et al. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 2007;48(9):1678–96.
27. Misulis K.E. Atlas of EEG, seizure semiology and management. Oxford University Press, 2014. P. 230.
28. Nieto-Barrera M., Candau R., Nieto-Jimenez M. et al. Topiramate in the treatment of severe myoclonic epilepsy in infancy. Seizure 2000;9(8):590–4.
29. Oguni H., Hayashi K., Awaya Y. et al. Severe myoclonic epilepsy in infants – a review based on the Tokyo Women’s Medical University series of 84 cases. Brain Dev 2001;23(7):736–48.
30. Ohki T., Watanabe K., Negoro K. et al. Severe myoclonic epilepsy in infancy: evolution of seizures. Seizure 1997;6(3):219–24.
31. Panayiotopoulos C.P. A clinical guide to epileptic syndromes and their treatment. 2nd ed. London: Springer-Verlag, 2007. Pr. 231–5.
32. Ragona F., Brazzo D., De Giorgi I. et al. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain 2010;32(1):71–7.
33. Ragona F., Granata T., Dalla-Bernardina B. et al. Cognitive development in Dravet syndrome: a retrospective, multi-center study of 26 patients. Epilepsia 2011;52(2):386–92.
34. Siegler Z., Barsi P., Neuwirth M. et al. Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study. Epilepsia 2005:46(5):704–8.
