Pyridoxine-dependent seizures associated with white matter abnormalities

Neuropediatrics. 1994 Oct;25(5):259-61. doi: 10.1055/s-2008-1073032.

Abstract

Pyridoxine-dependent seizures are a disorder of GABA metabolism probably due to a defective binding of pyridoxal phosphate coenzyme (PALP) with glutamate decarboxylase (GAD), the rate-limiting enzyme in GABA synthesis. The resulting GABA deficiency causes severe epilepsy in infancy. We report on a boy with seizures starting soon after birth, and only controlled by pyridoxine at pharmacological dosages. After two months without seizures, a CT scan showed hypodense white matter in frontal and occipital lobes suggestive of a retarded or defective myelination. We are not aware of other descriptions of such morphological abnormalities in a patient with this disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Child, Preschool
  • Demyelinating Diseases / drug therapy
  • Demyelinating Diseases / metabolism
  • Demyelinating Diseases / pathology
  • Humans
  • Male
  • Nerve Tissue / diagnostic imaging
  • Nerve Tissue / pathology
  • Pyridoxine / therapeutic use*
  • Seizures / drug therapy*
  • Seizures / metabolism
  • Seizures / pathology
  • Tomography, X-Ray Computed
  • gamma-Aminobutyric Acid / deficiency

Substances

  • gamma-Aminobutyric Acid
  • Pyridoxine