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Updated: May 4, 2026

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[Rett syndrome].

Paul R van Urk1, Mariëll P van den Berg, Barend J van Royen

  • 1St. Antonius Ziekenhuis, afd. Chirurgie, Nieuwegein.

Nederlands Tijdschrift Voor Geneeskunde
|January 16, 2014
PubMed
Summary

Rett syndrome, a neurodevelopmental disorder caused by MECP2 gene mutations, leads to developmental regression in young girls. Current treatment focuses on multidisciplinary clinical management due to the lack of causal therapies.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome is a severe X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene.
  • The MECP2 gene encodes a protein crucial for central nervous system development, transcription, and gene regulation.
  • Affected individuals typically exhibit normal early development followed by significant regression.

Observation:

  • A case study details a 3-year-old girl with initial normal development, followed by stagnation and regression.
  • The patient lost speech, developed severe dyspraxia, and exhibited characteristic stereotypic hand movements.
  • Genetic testing confirmed the clinical diagnosis of Rett syndrome.

Findings:

  • The case illustrates the typical progression of Rett syndrome, including loss of acquired skills and motor deficits.

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  • Epileptic seizures and severe scoliosis were observed later in the case.
  • The case underscores the importance of genetic confirmation for Rett syndrome diagnosis.

    • Implications:

    • Rett syndrome remains a significant challenge in pediatric neurology, primarily affecting females.
    • There is currently no cure for Rett syndrome, necessitating experienced multidisciplinary care.
    • Further research into MECP2 gene function and therapeutic strategies is critical for future treatment development.