A Rare Case of Pyridoxine-dependent Seizures in Infancy
A 45-day-old male infant was brought to our hospital with complaints of frequent seizures. Birth history revealed that baby delivered by caesarean section and weighed 3.14 kg at birth. He was suspected of having perinatal asphyxia due to APGAR score and the need for ventilation for respiratory difficulty and neonatal seizures he developed. Baby developed respiratory distress and transferred to NICU. Baby required ventilatory support for 3 days. Baby had neonatal seizures which were treated with antiepileptics (levetiracetam and phenobarbitone). After discharge on fifteenth day of life baby developed seizures, readmitted and treated with antiepileptics (phenobarbitone, levetiracetam and phenytoin) and had temporary improvement. Baby was discharged with oral antiepileptics. On 45th day of life baby had seizures again and this time baby was brought to our hospital. Seizures were myoclonic jerks in type and multiple in episodes. Baby was started on antiepileptics after initial investigations. Blood sugar, serum calcium and septic screen were normal. In view of recurrent seizures despite antiepileptic medication we started on pyridoxine and seizures subsided. Ultrasound cranium was normal. Other investigations including MRI brain, Cerebrospinal fluid analysis and blood culture were normal. Baby remained seizure free and was discharged with advice to continue pyridoxine and phenobarbitone. Parents stopped pyridoxine ignoring medical advice. Baby developed seizures at three months of age after two days of stopping pyridoxine and was brought back to our hospital. After reinitiation of pyridoxine, seizures subsided dramatically. Baby was discharged on oral pyridoxine. All antiepileptic drugs were tapered off and stopped. Subsequently the baby remained seizure free on oral pyridoxine. Infant is currently six months old with age appropriate mile stones and neurological examination was normal by Amiel-Tison method. Parents were advised to come for regular follow-up for neurodevelopment assessment. Parents were counselled to continue pyridoxine indefinitely.