[Pyridoxine-dependent epilepsy in an infant]

Ned Tijdschr Geneeskd. 1995 Aug 19;139(33):1694-7.
[Article in Dutch]

Abstract

A newborn girl with seizures was, after repeated conventional anticonvulsive treatment, cured by pyridoxine administration. Pyridoxine-dependent seizures are an uncommon disease with autosomal-recessive heredity and a variable clinical picture. The prognosis may be favourable when diagnosis is made early. Confusion with perinatal asphyxia, and initial good response to usual anticonvulsive treatment can lead to delay in diagnosis.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Anticonvulsants / therapeutic use*
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Pyridoxine / therapeutic use*
  • Seizures / drug therapy*
  • Seizures / genetics

Substances

  • Anticonvulsants
  • Pyridoxine