Pyridoxine-dependent epilepsy: treatment

Evidence-based neurology checklist on pyridoxine-dependent epilepsy: treatment: Pyridoxine Consider a trial of pyridoxine in all early onset intractable seizures Pyridoxine is administered IV This is followed by oral therapy: the dose is 100-200mg daily The response may be delayed up to a week The…

Pyridoxine

  • Consider a trial of pyridoxine in all early onset intractable seizures
  • Pyridoxine is administered IV
  • This is followed by oral therapy: the dose is 100-200mg daily
  • The response may be delayed up to a week
  • The response may be sustained for up to 5 years after treatment withdrawal

Other treatments

References

  1. van Karnebeek CD, Tiebout SA, Niermeijer J, et al. Pyridoxine-dependent epilepsy: an expanding clinical spectrum. Pediatr Neurol 2016; 59:6-12.
  2. Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010; 133:2148-2159.
  3. Baxter P. Pyridoxine dependent and pyridoxine responsive seizures. Dev Med Child Neurol 2001; 43:416-420.
  4. Bok LA, Halbertsma FJ, Houterman S, et al. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol 2012; 54:849-854.
  5. Suthar R, Saini SS, Sahu JK, Singhi P. Obstructive hydrocephalus in pyridoxine-dependent epilepsy: an uncommon complication. Pediatr Neurol 2017; 69:e1-e2.
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