RESUMEN
Nineteen of 161 infants with a confirmed diagnosis of phenylketonuria (PKU) had initially abnormal EEGs obtained within days of diagnosis. The abnormalities consisted of single repetitive or multiple spikes and/or sharp waves, focal or scattered, which rarely occurred in paroxysmal bursts. Initial maximal diagnostic serum phenylalanine (Phe) levels were significantly higher for the group with abnormal EEGs. The mean diagnostic serum Phe level was 56 mg/dL in the group with abnormal EEGs, whereas the mean diagnostic Phe level was 48 mg/dL in the group with normal tracings. The average age at initiation of restrictive dietary treatment was approximately 3 weeks. The initially abnormal EEGs became normal by 1 year of age in all but two patients who had a minimal and a mild abnormality, respectively. Hypsarrhythmic patterns were not seen. Infants with PKU detected early and treated well do not appear to need routine EEG monitoring.
Asunto(s)
Electroencefalografía , Fenilcetonurias/fisiopatología , Encéfalo/fisiopatología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Fenilalanina/sangre , Fenilcetonurias/dietoterapia , Pruebas PsicológicasRESUMEN
In two children treated for hypoglycemia and convulsions with diazoxide and diphenylhydantoin, therapeutic serum diphenylhydantoin levels were not achieved despite doses of diphenylhydantoin of 17 and 29 mg/kg/day, respectively. After diazoxide was discontinued, serum diphenylhydantoin levels were within the therapeutic range in each patient with doses of 6.6 and 10 mg/kg/day, respectively. Serum diphenylhydantoin fell to undetectable levels within four days after experimental reinitiation of diazoxide administration in one patient. Although the mechanism for the effect of diazoxide on serum concentrations of diphenylhydantoin is uncertain, an increased rate of metabolism of diphenylhydantoin is suggested by our findings. Decreased plasma protein binding of diphenylhydantoin, induced by diazoxide, was observed and may play a role.