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Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

R L P de Rooy1, F J Halbertsma2, E A Struijs3

  • 1Department of Pediatrics, Zuyderland Hospital, Heerlen, The Netherlands.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|April 18, 2018
PubMed

Insights

Late-onset pyridoxine-dependent epilepsy (PDE) may have a good cognitive outcome. This outcome might be due to a combination of genetic factors, treatment variations, and the absence of early seizures.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Pyridoxine-dependent epilepsy (PDE) typically presents with neonatal seizures.
  • A subset of PDE patients exhibits late-onset seizures, developing after two months of age.

Purpose of the Study:

  • To investigate the cognitive outcomes in patients with late-onset PDE.
  • To explore potential factors influencing cognitive development in this subgroup.

Main Methods:

  • Retrospective analysis of four genetically and metabolically confirmed late-onset PDE patients with antiquitin (ALDH7A1) deficiency.
  • Evaluation of ALDH7A1 mutations, metabolite levels (α-AASA, PA), maternal medication, treatment details, seizure burden, and MRI findings.

Main Results:

  • Three out of four patients demonstrated relatively good cognitive outcomes (IQ 80-97).
  • No clear association was found between analyzed variables and cognitive outcome.
  • Potential contributing factors included less severe genotypes in three patients and maternal medication in two.

Conclusions:

  • Favorable cognitive outcomes in late-onset PDE may result from a multifactorial etiology.
  • Possible explanations include unknown protective factors, genetic variations, and treatment strategies.
  • Absence of neonatal seizure-induced brain damage may also play a role.
Abstract

Keywords:
Late onsetPyridoxine dependent epilepsy

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