ICNC Abstracts, ICNC 2018

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Cohort of Clinical profile and Outcome of Pyridoxine dependent epilepsy
KAPIL JETHA, Vykuntaraju K Gowda

Last modified: 2018-09-15


Introduction: Pyridoxine dependent epilepsy (PDE) is an important treatable cause of inherited metabolic epilepsy and early diagnosis can improve outcome.

Methods: This is a retrospective analysis of clinical profile and outcome of fourteen children with PDE who presented to us from Jan 2014 to April 2018.

Results: All had neonatal onset of seizures, eight were male. Seizures of different semiology (clonic in seven and multiple in four and Infantile spasm in three) were present. Consanguinity was present in ten. Two had family history. Three mothers had history of increased foetal movements. One had significant birth insult. Ten had abnormal EEG before giving pyridoxine which got normalized within seven days after giving pyridoxine in seven. Imaging was normal in all except for one who had HIE and intra cranial bleed. Seven had recurrence of seizure within a week of stopping pyridoxine. Diagnosis was confirmed biochemically (CSF pipecolic acid and AASA, and urine AASA) in two and genetically in two children. Age of diagnosis ranged from 3months to 5.5years. Currently one child has normal development, four has mild intellectual disability and five have severe intellectual disability. Four children died and had retrospective diagnosis. All children are on pyridoxine, two on levipil also.

Conclusion:Pyridoxine dependent epilepsy should be considered in all children with neonatal onset refractory seizures with normal imaging. Delayed treatment will result in increased morbidity, developmental delay. Early treatment will improve outcome and reduce the requirement of multiple antiepileptic drugs.

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