Document Detail

Pyridoxine-dependent epilepsy initially responsive to phenobarbital.
MedLine Citation:
PMID:  18094870     Owner:  NLM     Status:  MEDLINE    
Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life, initially responsive to anticonvulsant therapy, which remitted within two weeks. Seizures were characterized as multifocal myoclonic jerks of upper and lower limbs associated with buccal-lingual oral movements and eyelid blinking. Laboratory and neuroimaging studies were normal. Electroencephalographic record demonstrated a abnormal background activity with high-voltage epileptic discharges and a burst-suppression pattern. The seizures ceased after oral administration of pyridoxine, but recurred after withdrawal, confirming the diagnosis.
Jaime Lin; Katia Lin; Marcelo Rodrigues Masruha; Luiz Celso Pereira Vilanova
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Arquivos de neuro-psiquiatria     Volume:  65     ISSN:  0004-282X     ISO Abbreviation:  Arq Neuropsiquiatr     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-12-20     Completed Date:  2008-06-02     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0125444     Medline TA:  Arq Neuropsiquiatr     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  1026-9     Citation Subset:  IM    
Division of Child Neurology, Escola Paulista de Medicina, Federal University of São Paulo, SP, Brazil.
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MeSH Terms
Epilepsy / diagnosis,  drug therapy*,  etiology
Follow-Up Studies
Infant, Newborn
Pyridoxine / therapeutic use*
Treatment Outcome
Vitamin B Complex / therapeutic use*
Reg. No./Substance:
12001-76-2/Vitamin B Complex; 65-23-6/Pyridoxine
Comment In:
Arq Neuropsiquiatr. 2008 Jun;66(2A):288; author reply 288-9   [PMID:  18545806 ]

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