Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

Abstract

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive outcome in neonates. A consensus for the diagnosis of PDE is based on refractive seizures and responsiveness to pyridoxine, however, a growing body of evidence suggests that additional elements should be considered which include biochemical data, genetic screening, and EEG monitoring. We present a case study of a neonate with PDE, who presented with misleading clinical presentation and a novel mutation in the antiquitin (ALDH7A1) gene (A294V), and highlight important aspects in order to consider the definition of diagnosis and management of PDE in the light of more recent data.

• Authors: Dorothée Ville, Carole Ginguene, Stéphanie Marignier, Vincent des Portes, Jullita de Bellescize
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 17 Issue 6 Pg. 676-80 (Nov 2013) ISSN: 1532-2130 [Electronic] England
• PMID: 23916709 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Vitamin B Complex
• ALDH7A1 protein, human
• Aldehyde Dehydrogenase
• Pyridoxine

Topics

• Aldehyde Dehydrogenase (genetics)
• Child
• Electroencephalography
• Epilepsy (diagnosis, drug therapy, genetics, metabolism)
• Female
• Humans
• Mutation (genetics)
• Pyridoxine (therapeutic use)
• Video Recording
• Vitamin B Complex (therapeutic use)