Rett syndrome

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Abstract
Keywords Definition Etiology Frequency Clinical description Evolution Management including treatment References Abstract Rett syndrome in girls is characterized by a serious and global developmental disorder affecting the central nervous system. It has been recently established that Rett syndrome is associated with mutation in MeCP2, a gene encoding methyl-CpG-binding protein 2 and located on the long arm of chromosome X, in region Xq28. A deceleration of head growth is observed after the first year of life, and corresponds to an important cerebral atrophy that is diffuse and affects mainly gray matter. The evolution follows a characteristic pattern in typical forms. The main clinical manifestation consists of hand stereotypies. Rett syndrome exists in different parts of the world. Prevalence in Europe has been estimated to approximately 1:15,000. Mutations in the MeCP2 gene have been recently reported in males with severe encephalopathies. No etiologic treatment is available. Nonetheless, it is important to propose symptomatic treatment when necessary as well as adapted educational therapy.