Clinical analysis in nine Brazilian cases of the Rett syndrome

The author reports on the clinical and laboratory findings of 9 cases of the Rett syndrome (RS) diagnosed in Brazil. All patients are female. The age of onset varied from 6 months to 2 years. The onset of the manual stereotypies varied from 6 months to 3 years. Hyperventilation was observed in only 3 cases. Epilepsy was present in all cases. EEGs were always abnormal and the CT scan showed mild atrophy in the majority of the cases. EMG lysosomal enzymes analysis, and conjunctival biopsy, whenever performed, did not show abnormalities. In spite of the lack of epidemiological data, RS in Brazil must be as frequent as in the first-world countries.