Classic Rett Syndrome with Developmental Regression and Epilepsy in a Four-Year-Old Child: A Case Report

Abstract

Rett syndrome is a rare neurodevelopmental disorder that predominantly affects girls and is commonly associated with pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene. It is characterised by apparently normal early development followed by developmental regression, loss of acquired communication and purposeful hand skills, stereotypic hand movements, seizures, and acquired deceleration of head growth. We report the case of a four-year-old girl who presented with developmental regression and recurrent seizures. Early development was reported to be normal until nine months of age, when the child had her first fever-associated seizure, followed by recurrent seizure episodes. Between 12 and 18 months of age, she showed progressive loss of purposeful hand movements, communication abilities, and previously attained motor skills. By approximately two years of age, stereotypic hand movements, including hand wringing and hand mouthing, were observed, along with acquired microcephaly and bruxism. Magnetic resonance imaging of the brain, cerebrospinal fluid analysis, and metabolic investigations were normal. Electroencephalography demonstrated bilateral epileptiform activity. Genetic testing identified a pathogenic MECP2 variant, supporting the diagnosis of classic Rett syndrome; however, detailed mutation nomenclature was not available for review. The child was managed with antiepileptic therapy, physiotherapy, occupational therapy, speech therapy, nutritional supplementation, and planned multidisciplinary surveillance for associated complications. This case highlights the importance of considering Rett syndrome in girls with developmental regression, stereotypic hand movements, seizures, and acquired deceleration of head growth after a period of apparently normal early development. Timely recognition may support appropriate diagnostic evaluation, symptom-directed management, rehabilitation, and ongoing family counselling.