Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.
Journal Article (Journal Article)
A 2-year-old girl from a consanguineous marriage was evaluated for refractory seizures that had presented at birth. Since her presentation, she had been treated with pyridoxine and antiepileptic medications. Because she did not manifest the expected clinical response, pyridoxine was discontinued, which led to an increase in clinical events. Cerebrospinal fluid neurotransmitter metabolite chromatography and an assay of serum biomarkers, including pipecolic acid and α-aminoadipic semialdehyde, confirmed the diagnosis of pyridoxine-dependent epilepsy, and genetic testing identified a homozygous mutation in our patient, and in a first cousin with epilepsy. The reintroduction of pyridoxine and addition of folinic acid eventually led to control of her seizures. Early testing of biomarkers may prevent delays in diagnosing pyridoxine-dependent epilepsy. We recommend that all patients presenting with cryptogenic seizures before age 18 months undergo this evaluation.
Full Text
Duke Authors
Cited Authors
- Segal, EB; Grinspan, ZM; Mandel, AM; Gospe, SM
Published Date
- April 2011
Published In
Volume / Issue
- 44 / 4
Start / End Page
- 289 - 291
PubMed ID
- 21397171
Pubmed Central ID
- 21397171
Electronic International Standard Serial Number (EISSN)
- 1873-5150
Digital Object Identifier (DOI)
- 10.1016/j.pediatrneurol.2010.11.012
Language
- eng
Conference Location
- United States