| Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. | |
| | |
MedLine Citation:
|
PMID: 21292558 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
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 2years 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 2years) of PLP-DE is reported. |
| | |
Authors:
|
Aravindhan Veerapandiyan; Sara A Winchester; William B Gallentine; Edward C Smith; Sujay Kansagra; Keith Hyland; Mohamad A Mikati |
Related Documents
:
|
19025618 - Left hand polydactyly: a case report. 10959498 - Giant hydronephrosis of a duplex system associated with ureteral ectopia: a cause of re... 21360158 - Migralepsy, hemicrania epileptica, post-ictal headache and "ictal epileptic headache": ... 6744208 - Carcinoma of the gallbladder with an anomalous connection between the choledochus and t... 9204328 - Solitary plasmacytomas of the occipital bone: a report of two cases. 3113958 - His bundle tachycardia--arrhythmogenic and antiarrhythmic effects of therapy. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-2-1 |
Journal Detail:
|
Title: Epilepsy & behavior : E&B Volume: - ISSN: 1525-5069 ISO Abbreviation: - Publication Date: 2011 Feb |
Date Detail:
|
Created Date: 2011-2-4 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 100892858 Medline TA: Epilepsy Behav Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
|
Division of Pediatric Neurology, Duke University Medical Center, Durham, NC, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Peripheral blood galectin-1-expressing T and natural killer cells in normal pregnancy and preeclamps...
Next Document: Evaluation of knowledge of and attitudes toward epilepsy among the health science students of Manipa...