Supporting Data docx 34KB

Study of 15 patients with early infantile neurometabolic epileptic encephalopathy-treatable etiologies

Objective:  To identify the characteristics of seizures in infantile epileptic encephalopathy  To identify the EEG pattern of neurometabolic seizures in different disorders  To identify the outcome in terms of cessation of seizures, EEG changes and neurodevelopment in subsequent years to follow

Methods: Inclusion criteria  All neonatal or early infantile seizures in absence of perinatal cause  Positive screening for IEM

Exclusion criteria • All early infantile seizures with normal biochemical parametres but morbid outcomeLike EIME • Untreatable metabolic disorders • Seizure semiology was recorded in all patients with video EEG . Metabolic workup -RBS, lactate, ammonia, ABG. CSf glucose ?RBS, TMS,Urine GCMS.Exome sequencing Biotinidase assay Dietary management included low protein food combined with commercial formula in few cases. All patients were followed up for 6months -3 years for neurodevelopment assessment.

Results: Table 1 as attached in supplementary data

Conclusion: Cofactor like biotin and pyridoxine has dramatic effect on supplementation in deficient cases Organic acidemias responded to low protein diet combined with hydroxycobalamin and carnitine. EIEE may have few treatable IEM conditions which if diagnosed in time leads to near normal outcome but if diagnosed late in infancy leads to permanent sequalae. This insight is useful even for future generation hence, screening for IEM should be mandatory in developing countries like INDIA.
Keywords: Epileptic encephalopathy,IEM,cofactors