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.
Subject(s)
Aspartic Acid/analogs & derivatives , Brain Damage, Chronic/genetics , Epilepsy, Generalized/genetics , Frontal Lobe/pathology , Glutamic Acid/metabolism , Intellectual Disability/genetics , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Parietal Lobe/pathology , Vitamin B 6 Deficiency/genetics , gamma-Aminobutyric Acid/deficiency , Aspartic Acid/metabolism , Brain Damage, Chronic/diagnosis , Brain Damage, Chronic/drug therapy , Child , Choline/metabolism , Consanguinity , Creatine/metabolism , Diagnosis, Differential , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/drug therapy , Female , Follow-Up Studies , Humans , Inositol/metabolism , Intellectual Disability/diagnosis , Intellectual Disability/drug therapy , Occipital Lobe/pathology , Phosphocreatine/metabolism , Pyridoxine/administration & dosage , Reference Values , Vitamin B 6 Deficiency/diagnosis , Vitamin B 6 Deficiency/drug therapy , gamma-Aminobutyric Acid/metabolismABSTRACT
PURPOSE: The aim of this study was to evaluate the relationship between the types of the corpus callosum dysgenesis, the associated brain anomalies and clinical findings. MATERIALS AND METHODS: We analyzed the MR imaging findings in 169 patients with callosal dysgenesis. Corpus callosum dysgenesis was categorized into agenesis, hypogenesis and hypoplasia. The associated brain anomalies and clinical findings were evaluated. RESULTS: Associated brain anomalies were observed in 148 patients (87.5%). Twenty-one patients (12.4%) had isolated corpus callosum dysgenesis. Dysgenesis included agenesis in 22 (%13), hypogenesis in 46 (27.2%), and hypoplasia in 101 (59.7%) patients. The clinical findings were most commonly observed in patients with hypoplasia. CONCLUSION: The presence of corpus callosum dysgenesis is a strong indication of possible associated brain anomalies. Corpus callosum dysgenesis and associated brain anomalies should be investigated in children with developmental delay, seizures and microcephaly.
