Document Detail

A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy.
MedLine Citation:
PMID:  23022904     Owner:  NLM     Status:  In-Data-Review    
Pyridoxine-dependent epilepsy presents early in life, even in utero. It is usually refractory to conventional antiepileptic medications and responds only to lifelong pyridoxine supplementation. Seizures are usually generalized tonic clonic. We report a 3-year-old child that was born prematurely at 25 weeks of gestation. He presented with abnormal movements in the second month of life. At 10 months of age he presented with status epilepticus, which was refractory to multiple antiepileptic medications and was controlled with intravenous pyridoxine. An elevated level of a-aminoadipic semialdehyde excretion in the urine supported the diagnosis of pyridoxine-dependent epilepsy. Subsequently, a c.1195G>C homozygous mutation in the 5q31 aldehyde dehydrogenase 7A1 gene was confirmed. This case calls for considering pyridoxine-dependent epilepsy and its early management in cases with resistant seizures; even in the presence of extreme prematurity with its neurological consequences.
Abdulaziz S Al-Saman; Tamer M Rizk
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neurosciences (Riyadh, Saudi Arabia)     Volume:  17     ISSN:  1319-6138     ISO Abbreviation:  Neurosciences (Riyadh)     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101252453     Medline TA:  Neurosciences (Riyadh)     Country:  Saudi Arabia    
Other Details:
Languages:  eng     Pagination:  371-3     Citation Subset:  IM    
Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
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