A preterm neonate with seizures unresponsive to conventional treatment

The case of a patient who presented with neonatal seizures unresponsive to conventional antiepileptic drugs and pyridoxine is reported. The baby girl was subsequently treated with pyridoxal 5′-phosphate (PLP) on day 20 of life, and showed rapid seizure control and normal development, with only mildly abnormal liver function tests at the current age of 6 years. Sequencing of the pyridox(am)ine 5′-phosphate oxidase (PNPO) gene revealed a heterozygous insertion of a single base in exon 7. The second allele was found to be normal although the patient may carry a mutation in another gene of the vitamin B 6 pathway. Follow-up at 6 years of age showed a seizure-free young girl (on 42 mg/kg/day PLP) with normal development but mild elevation of liver function tests. A high index of suspicion for metabolic disease must be kept in mind with neonatal seizures unresponsive to conventional treatment.