title: Pyridoxine-dependent seizures: magnetic resonance spectroscopy findings.
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 neuroimaging evaluation for assessment of parenchymal changes despite a normal-appearing brain magnetic resonance image in patients with pyridoxine-dependent seizures.
authors.affiliation: Department of Radiology, Turgut Ozal Medical Center, Inonu University School of Medicine, Malatya, Turkey. aalkan@inonu.edu.tr
authors.forename: Alpay
authors.initials: A
authors.lastname: Alkan
authors.forename: Ramazan
authors.initials: R
authors.lastname: Kutlu
authors.forename: Mehmet
authors.initials: M
authors.lastname: Aslan
authors.forename: Ahmet
authors.initials: A
authors.lastname: Sigirci
authors.forename: Ismet
authors.initials: I
authors.lastname: Orkan
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakinci
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001925:Brain Damage, Chronic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D002794:Choline / Q000378:metabolism; D003241:Consanguinity; D003401:Creatine / Q000378:metabolism; D003937:Diagnosis, Differential; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005625:Frontal Lobe / Q000473:pathology*; D018698:Glutamic Acid / Q000378:metabolism*; D006801:Humans; D007294:Inositol / Q000378:metabolism; D008607:Intellectual Disability / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009778:Occipital Lobe / Q000473:pathology; D010296:Parietal Lobe / Q000473:pathology*; D010725:Phosphocreatine / Q000378:metabolism; D011736:Pyridoxine / Q000008:administration & dosage; D012016:Reference Values; D026681:Vitamin B 6 Deficiency / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005680:gamma-Aminobutyric Acid / Q000172:deficiency* / Q000378:metabolism
chemical_list: D010725:Phosphocreatine; D001224:Aspartic Acid; D018698:Glutamic Acid; D007294:Inositol; D005680:gamma-Aminobutyric Acid; C000179:N-acetylaspartate; D011736:Pyridoxine; D003401:Creatine; D002794:Choline