Incidence Of Epilepsy In 92 Cases Of Classical Phenylketonuria

The incidence of epilepsy in classical phenylketonuria (PKU) is relatively low (25% of patients) comparing with the high incidence of EEG abnormalities (78 to 95% of cases). Seizures are most often of generalised type. We observed 92 patients affected by classical PKU: 53 cases early-diagnosed(< I month) and 39 late-diagnosed cases (age of diagnosis ranging from 19 months to 7 years). Only 5 patients (5%) suffered from epilepsy; all of them were from the late-diagnosed group. In 4/5 cases the seizures were well-controlled by antiepileptic drug administration, whereas one case had a Lennox-Gastaut syndrome and was only partially controlled by polytherapy.