Aims

IEM  in few cases is one of the treatable cause of EIEE.

1.To identify treatable etiology like IEM for EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

2.Assessment of neurodevelopment in  treated infants with IEM.

Methods:

All EIEE in   clinics were included

Patients with perinatal insults were excluded .

Seizure semiology was recorded in all patients with video EEG .

Metabolic workup included Blood glucose, lactate, ammonia, ABG.

CSf glucose sugar  carried out in few, followed by TMS and Urine GCMS.

Biotinidase assay  done  in indicated cases

Dietary management included low protein food combined with commercial formula in few cases.

Those who responded with metabolic cocktail and could not be established by TMS and GCMs were subjected to exome sequencing.

All patients were followed up for 6months -3 years for neurodevelopment assessment.

Results

Total 4 patients had biotinidase deficiency

1 patient had GLUt1 transporter defect

1 patient had multiple carboxylase deficiency responded to biotin and 1 died during treatment

3 patients had MMA

1 patient had MTHFR deficiency.

2 patients had pyridoxine dependency and one lost to follow up

One patient with abnormal parameters had multiple gene defect

All treated patients had near normal neurodevelopment on follow up

Conclusion:

Total 15 patients were included in study.

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.