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Gabriela Paduraru, Anca Adam, Ancuta Ignat, Vasile Valeriu Lupu, Marin Burlea


Rett syndrome is a childhood neurodevelopmental disorder that affects girls almostt exclusively. It is a genetic mutation (on the X chromosome) characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. Children with Rett syndrome display a wide variety of symptoms. They have many different health issues that require various treatments. This syndrome does not affect the normal pubertal development of the child. The authors present the case of a 17 years old child hospitalized at the 5th Pediatric Clinics of “St. Mary” Children’s Emergency Hospital who was diagnosed with Rett syndrome.

Key words: Rett syndrome, teenage girl, genetic mutation

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