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[Rett syndrome: report of 7 cases].

I Bruck1, S A Antoniuk, D De Paola

  • 1Departmento de Pediatria, Universidade Federal do Paraná, Brasil.

Arquivos De Neuro-Psiquiatria
|December 1, 1990
PubMed
Summary
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This study details clinical and laboratory findings in seven girls with Rett syndrome, highlighting developmental regression, seizures, and EEG abnormalities. Further research is needed to understand the pathogenesis of this rare neurodevelopmental disorder.

Area of Science:

  • Neurology
  • Pediatrics
  • Genetics

Context:

  • Rett syndrome is a rare neurodevelopmental disorder primarily affecting girls.
  • Early diagnosis and understanding of clinical manifestations are crucial for management.

Purpose:

  • To report the clinical and laboratory findings of seven girls diagnosed with Rett syndrome.
  • To contribute to the understanding of the pathogenesis and clinical spectrum of Rett syndrome.

Summary:

  • Seven girls with Rett syndrome (age 2-10 years) were followed for an average of 5 years and 9 months.
  • Key findings included developmental milestone deterioration (5-24 months), acquired microcephaly (6 patients), hyperventilation (3 patients), and generalized tonic-clonic seizures (6 patients).
  • EEG abnormalities showed spike discharges (5 patients) and paroxysmal high-amplitude theta activity (4 patients); other lab tests were unremarkable. Carbamazepine effectively controlled seizures.

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Impact:

  • Provides valuable clinical data on a rare neurodevelopmental disorder.
  • Highlights common clinical features and EEG findings in Rett syndrome.
  • Underscores the need for further research into the unknown pathogenesis of Rett syndrome.