Evaluation of seizures and clinical features of pediatric patients diagnosed with Rett Syndrome who were detected to have MECP2 mutation

Abstract

Rett syndrome is a neurodevelopmental disorder largely seen in girls. It occurs as a result of the mutations in methyl CpG binding protein 2 (MECP2) gene on X chromosome. The disease shows itself with psychomotor retardation and purposeless hand movements that are developed after normal development stages between months 6-18. It is frequently accompanied by microcephalia. Rett syndrome diagnosis is a clinical diagnosis, and molecular analysis is a supportive element for diagnosis. In this study, we have investigated seizures and clinical features of 9 patients monitored in our third line pediatric neurology clinic with Rett Syndrome diagnosis. Increased awareness provides early diagnosis and suitable treatment for female patients applied with otism and microcephalia in particular, and it is also important for preventing unnecessary diagnostic tests.