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 -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 neuroimaging
evaluation for assessment of parenchymal changes
despite a normal-appearing brain magnetic resonance image in
patients with pyridoxine-dependent seizures.
