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Abstract Details

The Rarest of The Rare: Late-Onset Pyridoxine Dependent Epilepsy in a Child
Child Neurology and Developmental Neurology
Child Neurology and Developmental Neurology Posters (7:00 AM-5:00 PM)
043
Not applicable.
Pyridoxine dependent epilepsy (PDE), a rare, (prevalence ranging from 1/20,000 to 1/783,000 live births) autosomal recessive disorder, that usually presents with neonatal onset seizures. A small cohort of patients can be atypical and present as late onset PDE i.e. beyond the neonatal period. Late onset PDE may initially respond to anti-epileptic drugs (AEDs) and then become refractory to them, but then will successfully respond to pyridoxine with an overall better developmental outcome. To the best of our knowledge, late onset PDE has not been reported with onset after 2 years of age.

Clinical Case: A now 5 year-old male presented with his first seizure at 2.5 years of age. About 8 months later, he began having recurrent seizure clusters requiring admissions to the pediatric intensive care unit in status epilepticus, despite being on multiple AEDs (levetiracetam, valproic acid, topiramate). Electroencephalograms (EEG) demonstrated findings of epileptic encephalopathy with multifocal epileptiform discharges. Given the EEG findings and an unclear etiology for the refractory nature of his epilepsy, a trial of pyridoxine was administered. Interestingly, he has remained seizure free since then and continues to do so 1.5 years later at his most recent follow-up and is off AEDs. He remains on pyridoxine monotherapy with normalization of his EEG.  
Not applicable.
With only over 200 reported cases, PDE is a rare cause of early onset epileptic encephalopathy with refractory seizures but is easily amenable to treatment with pyridoxine. Literature surrounding atypical cases with a late onset is further sparse. While typically seen in neonates, this case shows that late onset PDE, especially after 2 years of age, must be considered in patients with intractable seizures or refractory status epilepticus without an underlying diagnosis, and especially in those unresponsive to conventional AEDs.
Authors/Disclosures
Barbra Giourgas, MD (MUSC Pediatric Neurology)
PRESENTER 		Dr. Giourgas has nothing to disclose.
Sonal O. Bhatia, MD (Medical University of South Carolina) Dr. Bhatia has nothing to disclose.