Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is characterized by intractable tonic seizures in the setting of a severe encephalopathy and a burst-suppression background pattern on EEG. Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Approximately 100 cases total have been reported but this may be an underestimate. Ohtahara syndrome is a rare clinico-EEG syndrome. Gold standard investigation is genetic panel for epilepsy in case of nil structural abnormalities. It is refractory to any mode of treatment including ketogenic diet and surgery and carries highest mortality rate, die in infancy.

Summary: Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by deficiency of Glutaryl CoA dehydrogenase, a mitochondrial matrix enzyme involved in the degradation of lysine, hydroxyl lysine and trypophan[1] resulting in accumulation of glutaric acid,3-hydroxy glutaric acid in central nervous system. The estimated prevalence of GA-I is approximately 1 in 1,00,000 live births.[2] The classic symptom of glutaric aciduria type I (GAI) is irreversible focal striatal necrosis during an acute illness, most often between the ages of 3 and 18 months termed as “Encephalopathic crisis” results in dystonic-dyskinetic disorder.