RETT SYNDROME: A CASE REPORT

Abstract

Background-Rett syndrome is a very rare disorder characterised by severe neurodevelopmental delay affecting mostly girl child due to mutation of MECP-2 gene. The cause of this remains unknown but brain dysfunction and genetic factors have been implicated. We Clinical featurespresent one such case of 3 year 8-month-old female with no prior diagnostic intervention who presented with multiple episodes of convulsion (GTCS). History revealed normal physical development and normal achievement of developmental milestone for the rst 1yr of life, followed by regression of acquired hand skills and speech, and appearance of midline stereotypical hand movement after 1.5 years of age. TreatmentMainstay of treatment focussed on counselling of parents about the illness and taking multidisciplinary approach. Patient was discharged in a stable condition with antiepileptic drugs for controlling seizures, given high calorie diet for proper growth and referred to DEIC Unit of our Department for physiotherapy and speech therapy which will eventually help to increase the quality of life. This case report emphasises the Conclusionimportance of being aware of rare yet signicant disorder of interest because early identication and timely intervention can help both the patient and their families in improving quality of life.