Advertisement

Paroxysmal Alpha Activity in Rett Syndrome: A Case Report

      Abstract

      Background

      Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Classically the disorder is characterized by early normal development, followed by a period of regression and later recovery or stagnation. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. Epilepsy affects between 70% and 90% of individuals with Rett syndrome. A number of stereotypical electroencephalography findings have been reported in Rett syndrome.

      Patient description

      We report a 9-year-old girl with Rett syndrome and epilepsy with a unique electroencephalography finding consisting of intermittent paroxysms of alpha activity in both wakefulness and sleep without clinical signs.

      Results

      This unique electroencephalography signature has not previously been reported in the English literature.

      Conclusions

      Knowledge of this unique electroencephalography pattern of diffuse paroxysmal alpha activity represents an additional distinct feature of the electroencephalogram in Rett syndrome and expands the spectrum of electroencephalography abnormalities in Rett syndrome.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Pediatric Neurology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Neul J.L.
        • Kaufmann W.E.
        • Glaze D.G.
        • et al.
        Rett syndrome: revised diagnostic criteria and nomenclature.
        Ann Neurol. 2010; 68: 944-950
        • Dunn H.
        • MacLeod P.
        Rett syndrome: review of biological abnormalities.
        Can J Neurol Sci. 2001; 28: 16-29
        • Dolce A.
        • Ben-Zeev B.
        • Naidu S.
        • Kossoff E.
        Rett syndrome and epilepsy: an update for child neurologists.
        Pediatr Neurol. 2013; 48: 337-345
        • Nissenkorn A.
        • Gak E.
        • Vecsler M.
        • Reznik H.
        • Menascu S.
        • Ben Zeev B.
        Epilepsy in Rett syndrome—the experience of a National Rett Center.
        Epilepsia. 2010; 51: 1252-1258
        • Pintaudi M.
        • Calevo M.G.
        • Vignoli A.
        • et al.
        Epilepsy in Rett syndrome: clinical and genetic features.
        Epilepsy Behav. 2010; 19: 296-300
        • Hagberg B.
        Clinical manifestations and stages of Rett syndrome.
        Ment Retard Dev Disabil Res Rev. 2002; 8: 61-65
        • Moser S.
        • Weber P.
        • Lutschg J.
        Rett syndrome: clinical and electrophysiologic aspects.
        Pediatr Neurol. 2007; 36: 95-100
        • Guerrini R.
        • Parrini E.
        Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
        Epilepsia. 2012; 53: 2067-2078
        • Glaze D.G.
        Neurophysiology of Rett syndrome.
        J Child Neurol. 2005; 20: 740-746
        • Steffenburg U.
        • Hagberg g
        • Hagberg B.
        Epilepsy in a representative series of Rett syndrome.
        Acta Paediatr. 2001; 90: 34-39
        • Niedermeyer E.
        • Naidu S.
        • Plate C.
        Unusual EEG theta rhythms over central region in Rett syndrome: considerations of the underlying dysfunction.
        Clin Electroencephalogr. 1997; 28: 36-43
        • Neidermeyer E.
        • Rett A.
        • Renner H.
        • Murphy M.
        • Naidu S.
        Rett syndrome and the electroencephalogram.
        Am J Med Genet Suppl. 1986; 1: 195-199
        • Glaze D.G.
        • Frost Jr., J.D.
        • Zoghbi H.Y.
        • Percy A.K.
        Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging.
        Arch Neurol. 1987; 44: 1053-1056
        • Ostendorf A.
        • Gutmann D.
        • Weisenberg J.
        Epilepsy in individuals with neurofibromatosis type 1.
        Epilepsia. 2013; 54: 1810-1814
        • Hughes S.
        • Crunelli V.
        Thalamic mechanisms of EEG alpha rhythms and their pathological implications.
        Neuroscientist. 2005; 11: 357-372