Pyridoxine-dependent epilepsy: investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Pyridoxine-dependent epilepsy: investigations. Burst suppression, Hypsarrhythmia. Fully referenced neurology checklist.

Electroencephalography (EEG): features

  • Burst suppression
  • Hypsarrhythmia
  • Focal/multifocal spikes or sharp waves
  • Generalized rhythmic slow wave activity
  • The interictal EEG is normal in some cases

Magnetic resonance imaging (MRI) brain: features

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Other tests

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Treatment: Pyridoxine

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Treatment: others

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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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