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A case of Rett syndrome.

S Lazuardi1, N Advani, S Ismael

  • 1Department of Child Health, Medical School, University of Indonesia, Jakarta.

Paediatrica Indonesiana
|November 1, 1989
PubMed
Summary
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This case report details a 3 1/2-year-old girl with Rett syndrome, a neurodevelopmental disorder. Diagnosis was based on clinical signs and developmental regression, highlighting the condition

Area of Science:

  • Pediatric Neurology
  • Neurodevelopmental Disorders
  • Genetics

Background:

  • Rett syndrome is a rare neurodevelopmental disorder primarily affecting girls.
  • Early development is typically normal until 6-18 months, followed by regression.
  • Genetic mutations, particularly in the MECP2 gene, are the primary cause.

Observation:

  • A 3 1/2-year-old girl presented with regression after 14 months of normal development.
  • Clinical manifestations included reduced head circumference, loss of eye contact, stereotypic hand movements, and gait disturbance.
  • No specific laboratory tests confirmed the diagnosis.

Findings:

  • The diagnosis of Rett syndrome was established through clinical history and characteristic manifestations.
  • This case represents the first documented instance of Rett syndrome in Indonesia.

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  • The presentation underscores the importance of clinical diagnosis in resource-limited settings.

    • Implications:

    • Increased awareness of Rett syndrome in Indonesia is crucial for early diagnosis and intervention.
    • Further research is needed to understand the prevalence and genetic landscape of Rett syndrome in Southeast Asia.
    • This case highlights the diagnostic challenges and clinical approach to Rett syndrome.