Neuropediatrics 2014; 45(01): 064-068
DOI: 10.1055/s-0033-1353489
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5′-Phosphate Oxidase Deficiency: A Case Report

Authors

  • Stephanie Porri

    1   Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Geneva, Switzerland
  • Joel Fluss

    1   Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Geneva, Switzerland
  • Barbara Plecko

    2   Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Zurich, Switzerland
  • Eduard Paschke

    3   Laboratory of Metabolic Diseases, Department of Pediatrics, Medical University of Graz, Austria
  • Christian M. Korff

    1   Department of Pediatrics, Pediatric Neurology, Children's Hospital, University of Geneva, Switzerland
  • Ilse Kern

    4   Department of Pediatrics, Pediatric Nephrology and Metabolism Unit, Children's Hospital, University of Geneva, Switzerland
Further Information

Publication History

07 May 2013

01 July 2013

Publication Date:
25 September 2013 (online)

Preview

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.