Continuous spike-and-wave activity during slow-wave sleep in patients with rett syndrome-Reference-Cited by-同舟云学术

Continuous spike-and-wave activity during slow-wave sleep in patients with rett syndrome

Published:2021-07-30 Issue:1-2 Volume:16 Page:63-68
ISSN:2412-9178
Container-title:Russian Journal of Child Neurology
language:
Short-container-title:Rus. ž. det. nevrol.

Author:

Kulikova S. L.¹^ORCID,Kozyreva I. V.¹,Likhachev S. A.¹,Bobylova M. Yu.²

Affiliation:

1. Republican Research and Practical Center of Neurology and Neurosurgery

2. Svt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Child and Adult Neurology and Epilepsy

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.

Publisher

Publishing House ABV Press

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Reference22 articles.

1. Bobylova M.Yu., Ivanova I.V., Nekrasova I.V. i dr. Osobennosti epilepsii u detei s tipichnym variantom sindroma Retta, vyzvannym mutatsiei MECP2. Zhurnal nevrologii i psikhiatrii im. C.C. Korsakova 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. Kulikova S.L., Kuznetsova A.V., Savchenko M.A. i dr. Narushenie dykhaniya kak komorbidnoe rasstroistvo pri sindrome Retta. Nevrologiya i neirokhirurgiya. Vostochnaya Evropa 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. Malinina E.V., Zabozlaeva I.V. Epilepsiya u detei s sindromom Retta. Doktor.Ru 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. Mukhin K.Yu., Karpova V.I., Bezrukova I.S. i dr. Sindrom Retta (obzor literatury i opisanie klinicheskogo sluchaya). Russkii zhurnal detskoi nevrologii 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.