Pyridoxine-dependent seizures: Magnetic resonance spectroscopy findings


Alkan A., Kutlu R., Aslan M., Sigirci A., Orkan I., Yakinci C.

JOURNAL OF CHILD NEUROLOGY, vol.19, no.1, pp.75-78, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 1
  • Publication Date: 2004
  • Doi Number: 10.1177/08830738040190010712
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.75-78
  • Inonu University Affiliated: Yes

Abstract

Pyridoxine-dependent seizures are an extremely rare genetic disorder. Early diagnosis and treatment are important for the prevention of permanent. brain damage. Elevated levels of glutamate and decreased levels of gamma-aminobutyric acid (GABA) in the frontal and parietal cortices are among the characteristic features of this disorder. These metabolic abnormalities eventually lead to seizures and neuronal loss. In this case report, we present magnetic resonance spectroscopy findings of a 9-year-old girl with pyridoxine-dependent seizures with mental retardation. The N-acetylaspartate-to-creatine, ratio was found to be decreased in the frontal and parieto-occipital cortices, which could indicate neuronal loss. Magnetic resonance Spectroscopy could be a useful tool in the neuroiniaging evaluation for assessment of parenchymal changes despite a normal-appearing brain magnetic resonance image in patients with pyridoxine-dependent seizures.