Tandem Mass Spectrometry in Patients with Drug Resistant Epilepsy

Abstract

Background: Inherited metabolic abnormality was a common influential factor in the pathogenesis of intractable epilepsy. Screening of inborn metabolic abnormality in children with intractable epilepsy should be conducted as early as possible, to achieve early treatment and improve their prognosis. Methods: Descriptive study was conducted in Outpatient Neurology Clinic-Ain Shams University Pediatric Hospital. It included 30 (12 male and 18 female) patients with intractable epilepsy during the period from February 2017 to December 2017. All patients presented with drug resistant epilepsy. subjected to full history talking , clinical examination and were investigated by serum lactate, serum ammonia, arterial blood gases, Extended Metabolic Screen using tandem mass spectrometry, urinary organic acids, fundus examination, EEG and neuroimaging. Results: Abnormal urinary organic acid analysis was present in 5 patients as follows: 3-hydroxyglutaric acid in one patient, increase lactic acid in three patients and 2-oxoglutaric in one patient. Plasma amino acid analysis results were alanine elevation in 4 patients, elevated C5-DC in one patient, abnormal co-carnitine in three patients, 2 of them had low concentration and one had high concentration, elevated glycine in two patients and phenylalanine elevation in only one .Conclusion: Inherited metabolic abnormality was a common influential factor in the pathogenesis of intractable epilepsy.