[E.E.G. appearances in hyperphenylalaninaemia (author's transl)]

Abstract

Since 1973 the authors have studied the EEG appearances in hyperphenylalaninaemia : 82 children were studied, comprising : 68 children with phenylketonuria, 33 of whom had been treated within the first 3 months of life, whilst 35 had only started therapy after 9 months; 14 patients with hyperphenylalaninaemia. The morphological appearances seen commonly were compared with those described in the literature: the abnormalities and maturational changes were observed, including background rhythm changes, characteristic appearance of high amplitude, sharp spindles and percentages of generalised fast rhythms. Incidence of re-evaluation tests was also studied. Serial changes represented the most important aspect of this study, correlations being possible between the tracings and the child's development. The effects of correct dietary management, nonadherence to treatment, and the changes occurring on stopping treatment were also assessed. An assessment of the value of the EEG in following these cases could thus be made.