Department of Radiology, Inonu University School of Medicine, Malatya, Turkey.
Eur Rev Med Pharmacol Sci. 2012 May;16(5):695-8.
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.
作为一种极为罕见的病症，吡哆醇依赖性癫痫（PDS）的诊断较为困难。早期诊断 PDS 对于预防不良临床结局非常重要。该疾病可检测到额皮质和顶皮质中谷氨酸水平升高和γ-氨基丁酸（GABA）水平降低。在此，我们报告了一例 18 岁的 PDS 女性患者，其 9 年前的磁共振波谱（MRS）检查结果显示异常。目前和过去的 MRS 结果显示 MRS 上 N-乙酰天冬氨酸与肌酸的比值降低。在这种情况下，令人惊讶的是，尽管进行了准确的治疗，神经元损伤还是先于疾病出现。这可能是因为治疗延迟和/或治疗不足。
