Rett Syndrome: A Case report

Rett syndrome (RS) is a severe neuro-developmental disorder leading to severe intellectual disability in females all around the world. A four-year-old girl from Kathmandu presented with classic features of Rett syndrome (RS), including developmental regression with dementia, loss of acquired speech and hand function, and stereotypic hand movements along with generalized tonic clonic convulsion. Key words: Rett Syndrome, Developmental Regression DOI = 10.3126/jnps.v28i1.1401 J. Nepal Paediatr. Soc. Vol.28(1) p.17-19

Rett Syndrome: A Case Report

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