Akiyama Tomoyuki, Toda Soichiro, Kimura Nobusuke, Mogami Yukiko, Hanaoka Yoshiyuki, Tokorodani Chiho, Ito Tomoshiro, Miyahara Hiroyuki, Hyodo Yuki, Kobayashi Katsuhiro
Department of Child Neurology, Okayama University Hospital, Okayama, Japan; Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Department of Pediatrics, Kameda Medical Center, Chiba, Japan.
Brain Dev. 2020 May;42(5):402-407. doi: 10.1016/j.braindev.2020.02.002. Epub 2020 Feb 24.
The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is essential for the biosynthesis of gamma-aminobutyric acid, an inhibitory neurotransmitter. The aim of this study is to investigate our hypothesis that VB6 deficiency in the brain may play a role in AESD.
We obtained cerebrospinal fluid (CSF) samples from pediatric patients with AESD after early seizures and those with FS. We measured pyridoxal 5'-phosphate (PLP) and pyridoxal (PL) concentrations in the CSF samples using high-performance liquid chromatography with fluorescence detection.
The subjects were 5 patients with AESD and 17 patients with FS. Age did not differ significantly between AESD and FS. In AESD, CSF PLP concentration was marginally lower (p = 0.0999) and the PLP-to-PL ratio was significantly (p = 0.0417) reduced compared to those in FS.
Although it is impossible to conclude that low PLP concentration and PLP-to-PL ratio are causative of AESD, this may be a risk factor for developing AESD. When combined with other markers, this finding may be useful in distinguishing AESD from FS upon initial presentation.
伴有双相性癫痫发作和晚期弥散受限的急性脑病（AESD）的初始表现与复杂性热性惊厥（FS）难以区分，这给临床医生带来了巨大的诊断挑战。推测兴奋性毒性是AESD的发病机制。维生素B6（VB6）是抑制性神经递质γ-氨基丁酸生物合成所必需的。本研究的目的是探讨我们的假设，即脑内VB6缺乏可能在AESD中起作用。
我们收集了AESD早期癫痫发作患儿和FS患儿的脑脊液（CSF）样本。使用带荧光检测的高效液相色谱法测量CSF样本中的磷酸吡哆醛（PLP）和吡哆醛（PL）浓度。
研究对象为5例AESD患者和17例FS患者。AESD组和FS组的年龄无显著差异。与FS组相比，AESD组CSF中PLP浓度略低（p = 0.0999），PLP与PL的比值显著降低（p = 0.0417）。
虽然不能得出低PLP浓度和PLP与PL的比值是AESD病因的结论，但这可能是发生AESD的一个危险因素。当与其他标志物结合时，这一发现可能有助于在初次就诊时将AESD与FS区分开来。
