A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings

DOĞAN M., DOĞAN D., KAHRAMAN A. S., ÖZCAN Ö., Yakinci C., Alkan A.

EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES, vol.16, no.5, pp.695-698, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 5
  • Publication Date: 2012
  • Journal Name: EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.695-698
  • Keywords: Pyridoxine-dependent seizures, PDS, Magnetic resonance spectroscopy, MRS, DEPENDENT SEIZURES, MRI
  • Bezmialem Vakıf University Affiliated: Yes

Abstract

Being an extremely rare condition makes the diagnosis of pyridoxine-dependent seizures (PDS) difficult. Early diagnosis of PDS is very important to prevent unwanted clinical outcomes. Elevated levels of glutamate and decreased levels of gamma-aminobutyric acid (GABA) in the frontal and parietal cortices are detected in this disorder. Here we present an 18 year old girl with PDS, who was reported 9 years ago with Magnetic Resonance Spectroscopy (MRS) findings. Present and past MRS findings showed a decrease in N-acetyl-aspartate-to creatine ratio on MRS. In this case it is surprising that neuronal damage has been preceded despite the administration of accurate treatment. That can be because of delay in treatment and/or under treatment.