Rett syndrome: discrimination of typical and variant forms
AK Percy, HY Zoghbi, DG Glaze - Brain and Development, 1987 - Elsevier
Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen
patients fulfill the criteria established by Hagberg et alflj whereas three represent clinical
variants. Detailed biochemical and neurodiagnostic assessment was conducted in all
patients. Reduction in cerebrospinal biogenic amine metabolites and characteristic
alterations in respiratory, sleep, and EEG patterns were helpful in supporting the clinical
diagnosis in the fifteen patients with typical features of Rett syndrome. In the remaining three …
patients fulfill the criteria established by Hagberg et alflj whereas three represent clinical
variants. Detailed biochemical and neurodiagnostic assessment was conducted in all
patients. Reduction in cerebrospinal biogenic amine metabolites and characteristic
alterations in respiratory, sleep, and EEG patterns were helpful in supporting the clinical
diagnosis in the fifteen patients with typical features of Rett syndrome. In the remaining three …