Pyridoxine-dependent epilepsy: an often unrecognized but treatable cause of intractable seizures: case report from Korle Bu Teaching Hospital, Accra, Ghana

Abstract

OBJECTIVE: To describe a case of pyridoxine-dependent epilepsy and developmental status after treatment.METHODS: An infant who presented with intractable seizures was given a therapeutic trial of pyridoxine. This was at the babies unit of the Korle Bu Teaching Hospital, Accra, Ghana. Full documentation was done together with the patient's clinical course over a period of nearly four years.RESULTS: The patient demonstrated definite features of pyridoxine-dependent epilepsy as evidenced by prompt resolution of seizures when pyridoxine was administered and also as a result of inadvertent withdrawals of pyridoxine when child was ill from other causes and abolition of seizures when restarted. The child showed evidence of moderate psychomotor delay (speech) after nearly four years.CONCLUSION: A very rare case of pyridoxine-dependent epilepsy has been described in Ghana. This report highlights the need to suspect it in cases of recurrent and intractable neonatal seizures. Pyridoxine should be administered as a diagnostic test. Early diagnosis and adequate treatment is paramount in managing this condition to prevent long term effects of neurologic function.