Rett syndrome. A commonly overlooked progressive encephalopathy in girls
M. Al-Mateen, M. Philippart and W. D. Shields
We report 15 cases of Rett syndrome, a slowly progressive disorder that
occurs only in girls and is characterized by early deterioration of higher
brain function with dementia and autistic behavior, loss of purposeful use
of the hands, and deceleration of head growth. Epilepsy, with minor motor
seizures being the predominant type, has its onset between 2 and 4 years of
age in the majority of cases. Additional features include an extrapyramidal
disorder with dystonia and choreoathetosis, and lactic acidemia. A precise
biochemical marker of this disorder has not been identified.
