EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS)
https://doi.org/10.17650/2073-8803-2016-11-1-23-28
Abstract
Examinations were made in 11 female patients aged 3 to 23 years with Rett syndrome and typical mutation in the MECP2 gene, who had been followed up from 2006 to 2015. The investigators evaluated neurological and psychic status (systematically) and performed continuous video electroencephalographic (EEG) monitoring (if clinically indicated), magnetic resonance imaging, and molecular cytogenetic examination. Epilepsy was diagnosed in 6 (54.5 %) patients: symptomatic focal epilepsy in 5 cases and symptomatic generalized epilepsy in 1. The mean age at epilepsy onset was 3 years and 9 months. Generalized epileptic seizures were noted in 60 % of cases and focal ones in 40 %. EEG changes were revealed in 9 patients, 5 with slowing of background activity, 2 with regional epileptiform activity, and 1 with diffuse epileptiform activity that corresponded to that of the benign epileptiform patterns of childhood. Five patients were recorded to have multiregional epileptiform activity.
About the Authors
M. Yu. Bobylova
Svt. Luka’s Institute of Child Neurology and Epilepsy
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
K. Yu. Mukhin
Svt. Luka’s Institute of Child Neurology and Epilepsy
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
I. V. Ivanova
Svt. Luka’s Institute of Child Neurology and Epilepsy;
Russian Children’s Clinical Hospital, Ministry of Health of Russia
Russian Federation
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396;
117 Leninskiy Prospekt, Moscow, 117997
I. V. Nekrasova
Russian Children’s Clinical Hospital, Ministry of Health of Russia
Russian Federation
117 Leninskiy Prospekt, Moscow, 117997
Russian Federation
117 Leninskiy Prospekt, Moscow, 117997
O. A. Pylaeva
Svt. Luka’s Institute of Child Neurology and Epilepsy
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
N. Yu. Borovikova
Svt. Luka’s Institute of Child Neurology and Epilepsy
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
Russian Federation
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396
E. S. Il’ina
Russian Children’s Clinical Hospital, Ministry of Health of Russia
Russian Federation
117 Leninskiy Prospekt, Moscow, 117997
Russian Federation
117 Leninskiy Prospekt, Moscow, 117997
References
1. Бобылова М.Ю., Бабенко О.В, Руденская Г.Е. Атипичный синдром Ретта, впервые диагностированный у взрослой больной. Медицинская генетика 2015;14(2):25. [Bobylovа М.Yu., Babenkо О.V., Rudenskaya G.Е. Аtypical Rett’s syndrome, diagnosed for the first time at the adult patient. Meditsinskaya genetika = Меdical Genetics 2015;14(2):25. (In Russ.)].
2. Горбачевская Н.Л., Улас В.Ю. Всемирный конгресс по синдрому Ретта. Журнал неврологии и психиатрии им. С.С. Корсакова 1997;97(12):104–5. [Gorbachevskaya N.L., Ulas V.Yu. World Rett’s syndrome congress. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 1997;97(12): 104–5. (In Russ.)].
3. Грачев В.В. Синдром Ретта: вопросы диагностики. Журнал неврологии и психиатрии им. С.С. Корсакова 2001;101(1):22–6. [Grachev V.V. Rett’s syndrome: diagnostics issues. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2001;101(1): 22–6. (In Russ.)].
4. Мухин К.Ю., Петрухин А.С., Холин А.А. Эпилептические энцефалопатии и схожие синдромы у детей. М.: АртСервис ЛТД, 2011. С. 507–19. [Мukhin K.Yu., Petrukhin А.S., Kholin А.А. Epileptic encephalopathies and related syndromes at children. Мoscow: АrtServis LTD, 2011. Pp. 507–19. (In Russ.)].
5. Симашкова Н.В., Якупова Л.П., Башина В.М. Клинические и нейрофизиологические аспекты тяжелых форм аутизма у детей. Журнал неврологии и психиатрии им. С.С. Корсакова 2006;106(7):12–9. [Simashkovа N.V., Yakupovа L.P., Bashinа V.M. Clinic and neurophysiologic aspects of the childhood autism. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2006;106(7):12–9. (In Russ.)].
6. Скворцов И.А., Башина В.М. Нарушения развития коммуникативных функций у детей при заболеваниях аутистического спектра. Тула: Имидж Принт, 2013. С. 208–30. [Skvortsov I.А., Bashinа V.М. Disorders of the development of communicative functions at children with autistic spectrum disease. Тulа: Imidzh Print, 2013. Pp. 208–30. (In Russ.)].
7. Aicardi J. Diseases of the nervous system in children. 2nd edn. Cambridge: Mac Keith Press, 1998. Pp. 356–8.
8. Cardoza B., Clarke A., Wilcox J. et al. Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice. Seizure 2011;20(8):646–9.
9. Cooper R.A., Kerr A.M., Amos P.A. Rett syndrome: clinical examination of clinical features, serial EEG and video-monitoring in understanding and management. Eur J Pediatr Neurol 1998;2(3):127–35.
10. Dolce A., Ben-Zeev B., Naidu S., Kossoff E.H. Rett syndrome and epilepsy: An update for child neurologists. Pediatr Neurol 2013;48(5):337–45.
11. Garofalo E.A., Drury I., Goldstein G.W. EEG abnormalities aid diagnosis of Rett syndrome. Pediatr Neurol 1988;4(6): 350–3.
12. Glaze D.G., Schultz R.J., Frost J.D. Rett syndrome: characterization of seizures versus non- seizures. Electroencephalogr Clin Neurophysiol 1998;106(1):79–83.
13. Hagberg B., Skjeldal O.H. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994;11(1):5–11.
14. Hoffbuhr K., Devaney J.M., LaFleur B. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001;56(11):1486–95.
15. http://www.omim.org/entry/312750.
16. Niedermeyer E., Rett A., Renner H. Rett syndrome and the electroencephalogram. Am J Med Genet Suppl 1986;1:195–9.
17. Nissenkorn A., Gak E., Vecsler M. et al. Epilepsy in Rett syndrome – the experience of a National Rett Center. Epilepsia 2010;51(7):1252–8.
18. Roche Martínez A., Alonso Colmenero M.I., Gomes Pereira A. et al. Reflex seizures in Rett syndrome. Epileptic Disord 2011;13(4):389–93.
Review
For citations:
Bobylova M.Yu., Mukhin K.Yu., Ivanova I.V., Nekrasova I.V., Pylaeva O.A., Borovikova N.Yu., Il’ina E.S. EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS). Russian Journal of Child Neurology. 2016;11(1):23-28. (In Russ.) https://doi.org/10.17650/2073-8803-2016-11-1-23-28
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