Source of Support: None, Conflict of Interest: None
Pyridoxine-dependent seizure is a rare autosornal recessive disorder that usually presents as neonatal intractable seizures. This syndrome is due to an inborn abnormality of the enzyme glutamic acid decarboxylase, which results in reduced pyridoxine-dependent synthesis of the inhibitory neurotransmitter gamma amino butyric acid. We report a girl child who had seizures on the second post natal day which was controlled with oral pyridoxine. She had status epilepticus twice when the drug was stopped at the age of 3 months and 21 months. The neurological development was normal. There was normalization of EEG abnormalities on intravenous administration of 100 mg pyridoxine. A brief review of the literature is also included.