A. Žnidar
Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

N. Kranjc
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Rett syndrome (RTT) is a neurodevelopmental and not a neurodegenerative disorder with a typical clinical course and anatomical and neuroradiological findings. Developmental regression with the loss of purposeful hand use, independent walking and verbal communication with epilepsy, respiratory dysrhythmia in the awake state and hand stereotypies are present. Denovo mutation in the MECP2 gene, which encodes methyl¬-CpG-binding protein 2 (MECP2), is confirmed in the majority of patients, supporting the diagnosis establis¬hed by accepted clinical criteria. The revised clinical criteria and typical clinical presentation of classical RTT are presented in the paper.

Key words: Rett syndrome, diagnostic criteria, aetiology.