Metabolite analysis for acute encephalopathy with biphasic seizures and late reduced diffusion

2019 Fiscal Year Final Research Report

• Project/Area Number: 15K09622
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Okayama University
• Principal Investigator: Akiyama Tomoyuki 岡山大学, 医歯薬学総合研究科, 准教授 (10379737)
• Project Period (FY): 2015-04-01 – 2020-03-31
• Keywords: けいれん重積型脳症 / 熱性けいれん / ピリドキサールリン酸

Outline of Final Research Achievements

The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS). 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 5 patients with AESD and 18 patients with FS. In AESD, CSF pyridoxal phosphate (PLP) concentration was marginally lower and the PLP-to-pyridoxal ratio was significantly reduced compared to those in FS.
Although it is impossible to conclude that low PLP concentration and PLP-to-pyridoxal 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.

Free Research Field

小児科学

Academic Significance and Societal Importance of the Research Achievements

けいれん重積型脳症は発症時点において熱性けいれんとの区別が困難であり、かつ後遺症の頻度が高いのが問題である。発症時点でけいれん重積型脳症の可能性が高い患者を見つけることができれば、より積極的な治療を行うことにより数日後の発作（晩期発作）と後遺症の予防につなげられるかも知れない。
けいれん重積型脳症では、熱性けいれんではみられない髄液ビタミンB6代謝の変化が発症時点で起こっている可能性が本研究で示された。この成果は、けいれん重積型脳症を早い段階で熱性けいれんと区別するのに有用な可能性がある。