title: [Rett syndrome].
abstract: BACKGROUND
  Rett syndrome is caused by mutations in the X-linked MECP2 gene, encoding MeCP2 protein. This protein is essential for the transcription and repression of other genes and is important for the development and plasticity of the central nervous system. Children with Rett syndrome initially develop normally but after a few months their development deteriorates.
  
  
  METHODS
  The case describes a girl aged 3 years 7 months whose development had initially been normal but then stagnated and was followed by a phase of regression. Her speech was lost and she developed severe dyspraxia with stereotypic hand movements characteristic of the condition. The clinical diagnosis of Rett syndrome was confirmed through genetic testing. Later on she developed epileptic seizures and a severe scoliosis for which surgical correction and stabilisation was carried out.
  
  
  CONCLUSIONS
  Rett syndrome is a severe neurological developmental disorder that occurs almost exclusively in females and for which there is still no causal treatment. The treatment is multidisciplinary and based on clinical experience.
authors.affiliation: St. Antonius Ziekenhuis, afd. Chirurgie, Nieuwegein.
authors.forename: Paul R
authors.initials: PR
authors.lastname: van Urk
authors.forename: Mariëll P
authors.initials: MP
authors.lastname: van den Berg
authors.forename: Barend J
authors.initials: BJ
authors.lastname: van Royen
authors.forename: Eric E J
authors.initials: EE
authors.lastname: Smeets
authors.forename: Leopold M G
authors.initials: LM
authors.lastname: Curfs
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D051783:Methyl-CpG-Binding Protein 2