Plecko B, Hikel C, Korenke G-C, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S
Department of Pediatrics, University Hospital Graz, Graz, Austria.
Neuropediatrics. 2005 Jun;36(3):200-5. doi: 10.1055/s-2005-865727.
Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder. We have recently described isolated pipecolic acid elevations in the plasma and/or CSF of three patients with pyridoxine-dependent epilepsy with an intriguing inverse correlation to the oral intake of pyridoxine. We have now confirmed these findings in a further 6 unrelated patients with pyridoxine-dependent epilepsy. Pipecolic acid in plasma was 4.3- to 15.3 fold elevated compared to the upper normal range before pyridoxine and remained in the mildly elevated range while on pyridoxine. Pipecolic acid was even more markedly elevated in CSF. The extent of pipecolic acid elevation in CSF exceeded that of plasma by a factor of 2.2 to 4.8. This clearly discriminates pyridoxine-dependent epilepsy from other possible defects with elevated pipecolic acid. Determination of pipecolic acid in plasma and/or CSF should be included in the diagnostic work-up of patients with therapy-resistant seizures. It will in addition prevent patients with pyridoxine-dependent epilepsy from experiencing potentially dangerous pyridoxine-withdrawal, which until now has been necessary to prove the diagnosis.
吡哆醇依赖性癫痫，尽管在几十年前就已被描述，但可能仍是一种诊断不足的疾病。我们最近描述了3例吡哆醇依赖性癫痫患者血浆和/或脑脊液中游离哌啶酸升高的情况，且其与吡哆醇口服摄入量呈有趣的负相关。我们现在在另外6例无亲缘关系的吡哆醇依赖性癫痫患者中证实了这些发现。与服用吡哆醇前的正常上限相比，血浆中哌啶酸升高了4.3至15.3倍，在服用吡哆醇期间仍处于轻度升高范围。脑脊液中哌啶酸升高更为明显。脑脊液中哌啶酸升高的程度比血浆高出2.2至4.8倍。这明显将吡哆醇依赖性癫痫与其他可能伴有哌啶酸升高的缺陷区分开来。对于治疗抵抗性癫痫发作的患者，血浆和/或脑脊液中哌啶酸的测定应纳入诊断检查。此外，这将防止吡哆醇依赖性癫痫患者经历潜在危险的吡哆醇戒断，而到目前为止，为了证实诊断，这种戒断是必要的。
