Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
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.
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Related Subject Headings
- Pyridoxal Phosphate
- Neurology & Neurosurgery
- Mutation
- Male
- Infant
- Humans
- Epilepsy
- Electroencephalography
- Child, Preschool
- 5203 Clinical and health psychology
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Pyridoxal Phosphate
- Neurology & Neurosurgery
- Mutation
- Male
- Infant
- Humans
- Epilepsy
- Electroencephalography
- Child, Preschool
- 5203 Clinical and health psychology