Rett syndrome is neurodegenerative disorder in girls characterized by global deceleration of psychomotor development and subsequent loss of acquired cognitive and motor skills, occuring after 6~18 months of apparently normal development.
In 1966, Andreas Rett reported 31 girls who had mental regression, abnormal neurologic examinations, curious and repetitive hand-wringing, stereotypic movements, and other peculior behavioral manifestations.
There is no known biologic marker for Rett syndrome. So diagnosis should be focused on well-defined clusters of developmental and clinical deviations.
We experienced one case of Rett syndrome in 4 years old girl and reported the case with clinical, radiologic, histologic findings.
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