Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

Abstract

We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. One patient presented with neonatal tonic status epilepticus with subsequent generalized tonic-clonic seizures, and the second, with refractory complex partial seizures starting at 2 years of age. The pretreatment EEG revealed, interictally, burst suppression, multifocal independent sharp waves, and electrical status epilepticus in sleep. Ictally and interictally, it revealed runs of unilateral spike/slow waves. Previously reported features include burst suppression, myoclonus, tonic seizures, clonic seizures, and spasms. In the appropriate clinical scenario, the aforementioned features should raise the possibility of PLP-DE and appropriate treatment should be initiated. The first late-onset case (at 2 years) of PLP-DE is reported.

• Authors: Aravindhan Veerapandiyan, Sara A Winchester, William B Gallentine, Edward C Smith, Sujay Kansagra, Keith Hyland, Mohamad A Mikati
• Journal: Epilepsy & behavior : E&B (Epilepsy Behav) Vol. 20 Issue 3 Pg. 494-501 (Mar 2011) ISSN: 1525-5069 [Electronic] United States
• PMID: 21292558 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright © 2011 Elsevier Inc. All rights reserved.

Chemical References

• Pyridoxal Phosphate

Topics

• Child, Preschool
• Electroencephalography (drug effects)
• Epilepsy (drug therapy, genetics, physiopathology)
• Humans
• Infant
• Male
• Mutation (genetics)
• Pyridoxal Phosphate (cerebrospinal fluid, genetics, therapeutic use)