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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
Summary
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.
- 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.