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The metabolic disorder, pyridoxine-dependent epilepsy (PDE), exemplifies the principle that expeditious diagnosis and implementation of a targeted therapy, in this case, pyridoxine or vitamin B6, may prevent catastrophic neurodevelopmental outcomes. Scurvy in sailors was the first disease identified as curable by ingestion of a vitamin over 300 years ago. The association between pyridoxine and early onset neonatal epileptic encephalopathy was established by a single-case report nearly 70 years ago.1 A mother's third pregnancy led to a child successfully treated for neonatal seizures once it became apparent that vitamins ingested during gestation had relieved hyperemesis gravidarum and then neonatal seizures. This followed a prior pregnancy with a devastating neurologic outcome in an older sibling, without the benefit of vitamin trials and a diagnosis.
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Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the editorial.
See page 1035
- Received July 22, 2022.
- Accepted in final form August 3, 2022.
- © 2022 American Academy of Neurology
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