title: A preterm neonate with seizures unresponsive to conventional treatment.
abstract: 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 B6 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.
authors.affiliation: Section of Pediatrics, Department of Translational Medical Sciences, Università "Federico II", Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Raimondi
authors.affiliation: Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
authors.forename: Philippa
authors.initials: P
authors.lastname: Mills
authors.affiliation: Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
authors.affiliation: Section of Pediatrics, Department of Translational Medical Sciences, Università "Federico II", Naples, Italy.
authors.forename: Ennio
authors.initials: E
authors.lastname: Del Giudice
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008099:Liver / Q000503:physiopathology; D008111:Liver Function Tests; D016254:Mutagenesis, Insertional; D011732:Pyridoxal Phosphate / Q000627:therapeutic use*; D011734:Pyridoxaminephosphate Oxidase / Q000235:genetics; D012640:Seizures / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D000927:Anticonvulsants; D014803:Vitamin B Complex; D011732:Pyridoxal Phosphate; D011734:Pyridoxaminephosphate Oxidase