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Case Report

A Case of Rett Syndrome with MECP2 Gene Mutation

Jin Kyung Kim, Chang Seok Ki, Jong Won Kim

Clin Exp Pediatr. 2002;45(4):540-544. Published online April 15, 2002

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...

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