title: A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings.
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 y-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.
authors: Department of Radiology, Inonu University School of Medicine, Malatya, Turkey. metindogantr@gmail.com
authors: M
authors: M
authors: Dogan
authors: D Gumus
authors: DG
authors: Dogan
authors: A S
authors: AS
authors: Kahraman
authors: O
authors: O
authors: Ozcan
authors: C
authors: C
authors: Yakinci
authors: A
authors: A
authors: Alkan
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D001921:Brain / Q000187:drug effects / Q000378:metabolism* / Q000473:pathology; D002648:Child; D003404:Creatinine / Q000378:metabolism; D018450:Disease Progression; D004827:Epilepsy / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism; D005260:Female; D018698:Glutamic Acid / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D011237:Predictive Value of Tests; D011736:Pyridoxine / Q000627:therapeutic use; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000627:therapeutic use; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
chemical_list: D000927:Anticonvulsants; D015415:Biomarkers; D014803:Vitamin B Complex; D001224:Aspartic Acid; D018698:Glutamic Acid; D005680:gamma-Aminobutyric Acid; C000179:N-acetylaspartate; D003404:Creatinine; D011736:Pyridoxine