Rett Syndrome: A Case Report

Authors

  • MR Pathak (MD. Resident in Paediatrics), National Academy of Medical Sciences (NAMS), Mahabaudha, Kathmandu
  • A Neopane Consultant Paediatrician, Birendra Hospital Chhauni, Kathmandu.

DOI:

https://doi.org/10.3126/jnps.v28i1.1402

Keywords:

Rett syndrome, Developmental Regression, X Linked Dominant.

Abstract

Rett Syndrome (RS) is a neurodevelopmental disorder in which girls are predominantly affected, transmitted as an X linked dominant inheritance and caused by mutation in MECP2 gene. The basic presentation in RS is regression of previously acquired developmental milestones, lack of social interaction skills and acquired microcephaly after a certain age, which starts in early months of infancy. It is frequently misdiagnosed as autism, cerebral palsy or nonspecific developmental delay and is relatively frequent cause of delayed development in girls. Diagnosis is mainly clinical after excluding the neurodegenerative and other causes of delayed milestones. The chromosomal analysis, confirmatory tool for diagnosis is available in limited centers. The treatment is mainly speech therapy and counseling though few pharmacological agents have been tried with little response. A ten years age girl presented with the history of seizures, regression of speech and delayed motor milestones in our out patient clinic which was subsequently diagnosed as Rett Syndrome.

Key Words: Rett syndrome, Developmental Regression, X Linked Dominant.   

DOI = 10.3126/jnps.v28i1.1402  

J. Nepal Paediatr. Soc. Vol.28(1) p.20-22

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How to Cite

Pathak, M., & Neopane, A. (2008). Rett Syndrome: A Case Report. Journal of Nepal Paediatric Society, 28(1), 20–22. https://doi.org/10.3126/jnps.v28i1.1402

Issue

Vol. 28 No. 1 (2008)

Section

Brief Reports/Case Reports/Case Series

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