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Title

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

Authors
Plecko, Barbara
Paschke, Eduard
Published in Neuropediatrics. 2014, vol. 45, no. 1, p. 64-8
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 therapyHumansHypoxia-Ischemia, Brain/diagnosis/drug therapyInfant, PrematureInfant, Premature, Diseases/diagnosis/drug therapyMalePhosphoric Monoester Hydrolases/therapeutic usePyridoxaminephosphate Oxidase/deficiencySeizures/diagnosis/drug therapyTreatment Outcome
Identifiers
PMID: 24297574
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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. 64-8. https://archive-ouverte.unige.ch/unige:48446

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Deposited on : 2015-03-26

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