All issues > Volume 45(4); 2002

Case Report

J Korean Pediatr Soc. 2002;45(4):540-544. Published online April 15, 2002.

A Case of Rett Syndrome with MECP2 Gene Mutation

Jin Kyung JK Kim¹, Chang Seok CS Ki², Jong Won JW Kim²

¹Department of Pediatrics, Child Development Clinic, The Catholic University of Korea, School of Medicine, Daegu, Korea
²Department of Clinical Pathology, Sungkyunkwan University School of Medicine, Seoul, Korea

Abstract

Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by gradual loss of speech and purposeful hand use, and development of microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After regression between infancy and the fifth year of life, the clinical course stabilizes and patients usually survive into adulthood. It was recently discovered that Rett syndrome is caused by mutations in the methyl-CpG binding protein 2(MECP2) gene. Diagnosis of Rett syndrome is clinically difficult before three years of age, especially in atypical cases, but molecular analysis of the MECP2 gene could assist correct diagnosis in some patients. Recently, we diagnosed a case of Rett syndrome in a two year-old girl by mutational analysis of the MECP2 gene and want to report this case with brief review of literature.

Keywords :Rett syndrome, Methyl-CpG-binding protein 2 gene(MECP2), Mutation