Continuous spike-and-wave activity during slow-wave sleep in patients with rett syndrome
https://doi.org/10.17650/2073-8803-2021-16-1-2-63-68
Abstract
The article presents a description of a clinical case of a child 3 years 8 months old with Rett syndrome caused by the mutation of p.Val485fs in the MECP2 gene. According to electroencephalography data at the age of 1 year and 6 months, diffuse continued epileptiform activity in the form of high-amplitude (up to 300 μV) acute – slow wave complexes (continuous spike-waves during slow-wave sleep, CSWS) with an index of 90–100 % was revealed. At the control examination at the age of 2 years and 10 months diffuse epileptiform activity was replaced by multifocal activity with an index of up to 70–80 % at certain epochs, in general, not exceeding 50–60 %. During the entire observation period there were no epileptic seizures. It remains unknown whether the presence of CSWS at such an early age is a predictor of a more severe course of Rett syndrome – in our observation the girl did not acquire walking skills and a delay in psychic and speech development was evident already before the 12 month of life. more research is needed on the frequency of the CSWS phenomenon and its role in the development of clinical features in Rett syndrome.
About the Authors
S. L. Kulikova
Republican Research and Practical Center of Neurology and Neurosurgery
Belarus
Belarus
Svetlana Leonidovna Kulikova
24 Frantsiska Skoriny St., Minsk 220114
I. V. Kozyreva
Republican Research and Practical Center of Neurology and Neurosurgery
Belarus
Belarus
24 Frantsiska Skoriny St., Minsk 220114
S. A. Likhachev
Republican Research and Practical Center of Neurology and Neurosurgery
Belarus
Belarus
24 Frantsiska Skoriny St., Minsk 220114
M. Yu. Bobylova
Svt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Child and Adult Neurology and Epilepsy
Russian Federation
Russian Federation
5 Nagornaya St., Troitsk, Moscow 108840
9 Akademika Anokhina St., Moscow 119579
References
1. Бобылова М.Ю., Иванова И.В., Некрасова И.В. и др. Особенности эпилепсии у детей с типичным вариантом синдрома Ретта, вызванным мутацией MECP2. Журнал неврологии и психиатрии им. C.C. Корсакова 2017;117(9–2):80–7. [Bobylova M.Yu., Ivanova I.V., Nekrasova I.V. et al. Specific features of epilepsy in children with typical Rett syndrome associated with MECP2 gene mutations. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2017; 117(9–2):80–7. (In Russ.)].
2. Куликова С.Л., Кузнецова А.В., Савченко М.А. и др. Нарушение дыхания как коморбидное расстройство при синдроме Ретта. Неврология и нейрохирургия. Восточная Европа 2020;10(1):41–51. [Kulikova S.L., Kuznetsova A.V., Savchenko M.A. et al. Respiratory impairments as a comorbidity in patients with Rett syndrome. Nevrologiya i neyrokhirurgiya. Vostochnaya Evropa = Neurology and Neurosurgery. Eastern Europe 2020;10(1):41–51. (In Russ.)].
3. Малинина Е.В., Забозлаева И.В. Эпилепсия у детей с синдромом Ретта. Доктор.Ру 2017;8(137):18–21. [Malinina E.V., Zabozlaeva I.V. Epilepsy in children with Rett syndrome. Doktor.Ru = Doctor. Ru 2017;8(137):18–21. (In Russ.)].
4. Мухин К.Ю., Карпова В.И., Безрукова И.С. и др. Синдром Ретта (обзор литературы и описание клинического случая). Русский журнал детской неврологии 2010;5(2):43–52. [Mukhin K.Yu., Karpova V.I., Bezrukova I.S. et al. Rett syndrome (literature review and case report). Russkiy zhurnal detskoy nevrologii = Russian Journal of Child Neurology 2010;5(2):43–52. (In Russ.)].
5. Caraballo R., Pavlidis E., Nikanorova M., Loddenkemper N. Encephalopathy with continuous spike-waves during slow-wave sleep: evolution and prognosis. Epileptic Disord 2019;21(Suppl 1):15–21. DOI: 10.1684/epd.2019.1052.
6. 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. DOI: 10.1016/j.seizure.2011.06.010.
7. Cooper R.A., Kerr A.M., Amos P.M. Rett syndrome: critical examination of clinical features, serial EEG and video-monitoring in understanding the management. Eur J Paediatr Neurol 1998;2:125–7. DOI: 10.1016/s1090-3798(98)80028-7.
8. Dolce A., Ben-Zeev B., Naidu S., Kossoff E.H. Rett syndrome and epilepsy: An update for child neurologists. Pediatric Neurology 2013;48:337–45. DOI: 10.1016/j.pediatrneurol.2012.11.001.
9. Gardella E., Cantalupo G., Larsson P.G. et al. EEG features in encephalopathy related to status epilepticus during slow sleep. Epileptic Disord 2019;21(Suppl 1): 22–30. DOI: 10.1684/epd.2019.1054.
10. Gold W.A., Krishnarajy R., Ellaway C., Christodoulou J. Rett syndrome: А genetic update and clinical review focusing on comorbidities. ACS Chem Neurosci 2017;9(2):167–76. DOI: 10.1021/acschemneuro.7b00346.
11. Guerrini R., Parrini E. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-generelated encephalopathies. Epilepsia 2012;53(12):2067–78.
12. Hagne I., Witt Engerstrom I., Hagberg B. EEG development in Rett syndrome. A study of 30 cases. Electroencephalogr Clin Neurophysiol 1989;72:1–6. DOI: 10.1016/0013-4694(89)90025-4.
13. Jian L., Nagarajan L., de Klerk N. et al. Predictors of seizure onset in Rett syndrome. J Pediatrics 2006;149:542–7. DOI: 10.1016/j.jpeds.2006.06.015.
14. Kessi M., Peng J., Yang L. et al. Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review. BMC Genetics 2018;19(1):40. DOI: 10.1186/s12863-018-0628-5.
15. Krajnc N. Management of epilepsy in patients with Rett syndrome: perspectives and considerations. Ther Clin Risk Management 2015;11:925–32.
16. Nissenkorn A., Gak E., Vecsler M. et al. Epilepsy in Rett syndrome – the experience of a National Rett Center. Epilepsia 2010;51:1252–8.
17. Operto F.F., Mazza R., Pastorino G.M.G. et al. Epilepsy and genetic in Rett syndrome: A review. Brain Behav 2019;9:5.
18. Scheltens-de Boer M. Guidelines for EEG in encephalopathy related to ESES/CSWS in children. Epilepsia 2009;50:13–7. DOI: 10.1111/j.1528-1167.2009.02211.x.
19. Srivastava S., Desai S., Cohen J. et al. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics 2018;19(1):41–7.
20. Steffenburg U., Hagberg G., Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr 2001;90:34–9.
21. Tassinari C.A., Rubboli G. A commentary on encephalopathy related to status epilepticus during slow sleep: from concepts to terminology. Epileptic Disord 2019;21(Suppl 1):13–4.
22. Vidal S., Brandi N., Pacheco P. et al. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. Eur J Paediatr Neurol 2019;23(4):609–20. DOI: 10.1016/j.ejpn.2019.04.006.
Review
For citations:
Kulikova S.L., Kozyreva I.V., Likhachev S.A., Bobylova M.Yu. Continuous spike-and-wave activity during slow-wave sleep in patients with rett syndrome. Russian Journal of Child Neurology. 2021;16(1-2):63-68. (In Russ.) https://doi.org/10.17650/2073-8803-2021-16-1-2-63-68
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