Scientific article
Case report
English

Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report

Published inNeuropediatrics, vol. 45, no. 1, p. 64-68
Publication date2014
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.

Keywords
  • Brain Diseases, Metabolic/diagnosis/drug therapy
  • Humans
  • Hypoxia-Ischemia, Brain/diagnosis/drug therapy
  • Infant, Premature
  • Infant, Premature, Diseases/diagnosis/drug therapy
  • Male
  • Phosphoric Monoester Hydrolases/therapeutic use
  • Pyridoxaminephosphate Oxidase/deficiency
  • Seizures/diagnosis/drug therapy
  • Treatment Outcome
Citation (ISO format)
PORRI, Stéphanie et al. Positive outcome following early diagnosis and treatment of pyridoxal-5′-phosphate oxidase deficiency: a case report. In: Neuropediatrics, 2014, vol. 45, n° 1, p. 64–68. doi: 10.1055/s-0033-1353489
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0174-304X
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