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MECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series
Alexandra Morgan1,2, Alice Pham1, Sydni Beeley1
1Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Journal of Child Neurology
|March 12, 2026
Summary
Genetic testing revealed MECP2-associated Rett syndrome (RS) in four girls with global developmental delay. These cases show atypical presentations of RS, emphasizing broad genomic sequencing for developmental disorders.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Neurodevelopmental disorders require continuous clinical phenotype expansion.
- Advancements in genetic testing are crucial for elucidating new clinical criteria.
- Global developmental delay is a common referral reason in specialty clinics.
Purpose of the Study:
- To report a case series of pediatric patients with global developmental delay.
- To highlight unexpected genetic diagnoses of MECP2-associated Rett syndrome (RS).
- To demonstrate the broadening clinical presentation of RS.
Main Methods:
- Retrospective case series analysis.
- Review of clinical data for four female pediatric patients.
- Analysis of genetic testing results for MECP2 mutations.
Main Results:
- Four female pediatric patients diagnosed with MECP2-associated Rett syndrome (RS).
- None of the patients met the established clinical diagnostic criteria for RS prior to genetic testing.
- Patients presented with global developmental delay without typical development or regression.
Conclusions:
- Broad genomic sequencing is important for patients with global developmental delay.
- Atypical and mild presentations of Rett syndrome are increasingly recognized.
- Understanding of RS clinical spectrum evolves with genetic testing standardization.
