Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings

Síndrome de Rett devido a mutação no gene MECP2 e achados eletroencefalográficos

A 6-year-old girl with MECP2-positive Rett syndrome presented for investigation of seizures. The electroencephalogram (EEG) showed markedly disorganized cerebral activity, epileptiform paroxysms and a quasiperiodic pattern, followed by attenuation after paroxysmal activity (Figures 1 and 2). In MECP2-positive patients, there is a progression of EEG findings in stages. First, seizures are not a prominent feature, and the EEG may be normal. Second, focal spikes may be observed, especially in the centrotemporal regions. Third, there is an accentuation of epileptiform activity, abnormalities during sleep, and the presence of bilaterally synchronous discharges of pseudoperiodic delta activity and generalized rhythmic spike discharges. Fourth, there are theta waves in the central and frontal regions, multifocal epileptiform activity in the waking state, and generalized slow spike and wave activity during sleep.¹,²

Figure 1
Bipolar longitudinal.

Figure 2
Average referential.

References

• ¹
  Operto FF, Mazza R, Pastorino GMG, Verrotti A, Coppola G. Epilepsy and genetic in Rett syndrome: A review. Brain Behav 2019;9(05):e01250. Doi: 10.1002/brb3.1250
  » https://doi.org/10.1002/brb3.1250
• ²
  Spagnoli C, Fusco C, Pisani F. Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review. Genes (Basel) 2021;12(08):1157. Doi: 10.3390/genes12081157
  » https://doi.org/10.3390/genes12081157

Appendix A

Quiz

1. What is the main gene involved in typical cases of Rett syndrome?

   1. CDKL5

   2. FOXG1

   3. MECP2

   4. SCNA1

   answer: c

2. In a patient with Rett syndrome due to a mutation in the MECP2 gene, in how many stages does the progression of electroencephalographic findings occur?

   1. 3

   2. 4

   3. 5

   4. 6

   answer: b

3. A patient with Rett syndrome due to a mutation in the MECP2 gene who presents a pattern of pseudoperiodic discharges on the electroencephalogram can be classified into which stage?

   1. 3

   2. 4

   3. 5

   4. 6

   answer: a

Edited by

Editor-in-Chief: Hélio A. G. Teive

Associate Editor: Luciano de Paola

Publication Dates

• Publication in this collection
  23 Aug 2024
• Date of issue
  2024

History

• Received
  03 Feb 2024
• Accepted
  06 Apr 2024