title: Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.
abstract: Pyridoxal-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive, vitamin-responsive metabolic disorder causing refractory neonatal seizures that respond to the administration of pyridoxal-5'-phosphate (PLP). There are currently few case studies that have documented the functional outcome in PNPO deficiency, which remains poor in the majority of cases. We present the case of a male infant born at 35 weeks gestation who promptly responded to oral administration of PLP, following resistance to common anticonvulsive therapy and to a pyridoxine trial. Neurological outcome at 21 months is favorable and illustrates the importance of standardized vitamin trials in the acute setting of "therapy-resistant" neonatal seizures. Early recognition of PNPO deficiency and appropriate intervention might be associated with a more favorable outcome than initially considered.
authors.affiliation: Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Geneva, Switzerland.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Porri
authors.affiliation: Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Geneva, Switzerland.
authors.forename: Joel
authors.initials: J
authors.lastname: Fluss
authors.affiliation: Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Zurich, Switzerland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Plecko
authors.affiliation: Laboratory of Metabolic Diseases, Department of Pediatrics, Medical University of Graz, Austria.
authors.forename: Eduard
authors.initials: E
authors.lastname: Paschke
authors.affiliation: Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Geneva, Switzerland.
authors.forename: Christian M
authors.initials: CM
authors.lastname: Korff
authors.affiliation: Department of Pediatrics, Pediatric Nephrology and Metabolism Unit, Children's Hospital, University of Geneva, Switzerland.
authors.forename: Ilse
authors.initials: I
authors.lastname: Kern
mesh_terms: D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000188:drug therapy*; D006801:Humans; D020925:Hypoxia-Ischemia, Brain / Q000175:diagnosis* / Q000188:drug therapy*; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000188:drug therapy*; D008297:Male; D010744:Phosphoric Monoester Hydrolases / Q000627:therapeutic use*; D011734:Pyridoxaminephosphate Oxidase / Q000172:deficiency*; D012640:Seizures / Q000175:diagnosis* / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D011734:Pyridoxaminephosphate Oxidase; C022493:pyridoxal-5-phosphatase; D010744:Phosphoric Monoester Hydrolases