Abstract
Background and Objectives: Phenylketonuria is a congenital defect in phenylalanine metabolism. Some of these patients suffer from uncontrollable seizures that lead to frequent admissions in Pediatric Intensive Care Unit. The aim of the present study was to evaluate the frequency and types of seizure as well as electroencephalographic (EEG) findings in children with phenylketonuria.
Materials and Methods: In a cross-sectional and descriptive-analytic study, 50 patients with phenylketonuria in Tabriz Children’s Hospital were assessed with regard to the frequency and types of seizure as well as electroencephalographic findings.
Results: The mean age of the patients was 4.49±3.67 years. Twenty five patients were male (50%). The frequency of seizures was 34%. The most common type of the seizures was generalized tonic-colonic (35.3%) and infantile spasm (35.3%). Abnormal EEG was found in 88.2% of the patients with seizure. There was no significant correlation between the seizure and age (P=0.32), sex (P=0.50), and serum level of phenylalanine before treatment (P=0.45).
Conclusion: Nearly one third of children with phenylketonuria suffer from seizures. Most of these seizures are infantile spasm or generalized tonic-colonic seizure and are accompanied with abnormal EEG findings.