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テーマ：小児急性脳症の病態・疫学・臨床像の解明、最適治療法の開発
急性脳症はわが国の小児に好発する希少難治性疾患であり、痙攣重積型（二相性）急性脳症 (AESD) （指定難病 129・小慢）、難治頻回部分発作重積型急性脳炎 (AREEPS)（指定難病 153・小慢）、急性壊死性脳症 (ANE) など複数症候群の集合体です。髙梨はAESD, 脳梁膨大部脳症（MERS）、二相性臨床経過と遅発性拡散能低下を呈する乳児外傷性脳損傷（TBIRD）の疾患概念を確立し、厚生労働科学研究「小児急性脳症研究班」の研究代表として国内研究を取りまとめ推進しています(1) 。
令和 7 年度は、第２回急性脳症治療法に関する WEB アンケート調査を 2025.10-2026.1 の期間で実施し、全国の約 100 施設から回答を得ました。これを基に、現状の治療実態、ならびに前回との比較で小児急性脳症診療GL2023 の CQ の実施状況を検証致しました。この成果は、現在投稿中でありますが、次回改訂予定の GL2027 の基盤データをなします。これに並行して、小児急性脳症の臨床像、画像研究、特に MRS を用いた脳代謝解析も継続して実施しており、令和 7 年度は外傷性の興奮毒性型脳症（TBIRD）の疾患概念を発表致しました。こちらは日本小児科学会雑誌に総説として掲載されております(2)。
＊(1) 厚生労働科学研究・小児急性脳症研究班 HP：https://encephalopathy.jp
＊(2) 安河内悠、小俣卓、髙梨潤一 . 二相性臨床経過と遅発性拡散能低下を呈する乳児外傷性脳損傷（TBIRD）. 日本小児科学会雑誌 2026; 130: 702-709.
研究成果（高度小児希少難病センター参画メンバーによる）
研究成果（高度小児希少難病センター参画メンバーによる）
1) Omata T, Sakuma H, Nagase H, Abe Y, Kuki I, Okumura A, Maegaki Y, Murayama K, Sakai Y, Hoshino A, Mizuguchi M, Takanashi J. National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study. Brain Dev. 2025; 47(4): 104387. doi: 10.1016/j.braindev.2025.104387.
2) Sakuma H, Thomas T, Debinski C, Eyre M, Han VX, Jones HF, Kawano G, Lee VW, Malone S, Matsuishi T, Mohammad SS, Mori T, Nishida H, Nosadini M, Takanashi JI, Mizuguchi M, Lim M, Dale RC. International consensus definitions for infection-triggered encephalopathy syndromes. Dev Med Child Neurol. 2025; 67: 195-207. doi: 10.1111/dmcn.16067.
3) Matsuda S, Mori T, Kasai M, Kohyama K, Nishida H, Abe S, Kuki I, Kumada S, Kurahashi H, Miyama S, Suzuki M, Takanashi J, Usami S, Yamaguchi S, Yamasaki S, Nishida A, Sakuma H. Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitis. Eur J Paediatr Neurol 2025: 54: 50-57.
4) Ochiai K, Omata T, Sano K, Sakuma H, Takanashi J. Potential role of perampanel in reducing barbiturate dependency in febrile infection related epilepsy syndrome: a case report. Cureus 17 (1): e77568. DOI 10.7759/cureus.77568. 5) Oguri M, *Okanishi T, Kuki I, Hamano SI, Ueta I, Nakamura Y, Inaba Y, Lee S, Takanashi JI, Togawa M, Onishi A, Maegaki Y. Automated differentiation of acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizures in acute phase. Sci Rep. 2025; 15: 32948. doi: 10.1038/s41598-025-17828-y.
6) *Ochiai K, Omata T, Sano K, Mutoh T, Takanashi J. Pediatric encephalomyeloradiculoneuropath y with high lactate in cerebrospinal fluid and magnetic resonance spectroscopy. J Child Neurol in press.
7) Sugiyama R, *Shimizu-Motohashi Y, Sakata Y, Omata T, Takanashi JI, Furukawa S, Nakashima M, Saitsu H, Sato N, Komaki H. Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants. Brain Dev. 2025; 47: 104442. doi: 10.1016/ j.braindev.2025.104442.
8) Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Jun-ichi Takanashi, et al. Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay. NPJ Genom Med 2025; 10: 60. doi: 10.1038/s41525-025-00521-4.
9) Suzuki Y, Uehara DT, Enokido Y, Kawai T, Nomura N, Yamada K, Takanashi JI, Miyahara H, Inazawa J, *Hayashi S. Transcript imbalance from TENM4 exon skipping: effects on epilepsy and genetic pleiotropy. Mol Neurobiol. 2025 Dec 26;63(1):324. doi: 10.1007/s12035-025-05559-0.
10) *Kimura S, Abe K, Ochiai K, Omata T, Takanashi JI. Comparative Assessment of Transcranial doppler and MRI perfusion imaging in a Japanese child with probable brain death. Cureus. 2025; 17: e99877. doi: 10.7759/cureus.99877.
11) *Tada H, Ichimoto K, Murayama K, Goto T, Takanashi J. New neuroimaging findings in enoyl- CoA hydratase short-chain 1 (ECHS1) deficiency. Cureus 2026 in press.
12) Kasai M, Sakuma H, Suzuki M, Nishiyama M, Kawata N, Lin JJ, Lin KL, Han V, Mohammad SS, Dale RC, Thomas T, Muramatsu K, Mitani O, Kobayashi Y, Ishida K, Yuichi Abe Y, Ichiro Kuki I, Jun- Ichi Takanashi JI. Life-Threatening SARS-CoV-2-Associated Encephalopathy and Multiorgan Failure in Children, Asia and Oceania, 2022-2024. Emerg Infect Dis 2026; 32(2):169-179. doi: 10.3201/ eid3202.250549.
13) Asahara R, Enokizono M, Ogawa E, Kawakami A, Miyama S, Takanashi J, Kono T. Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report. Brain Dev 2026; 48: 104516. DOI: 10.1016/j.braindev.2026.104516.
2) Sakuma H, Thomas T, Debinski C, Eyre M, Han VX, Jones HF, Kawano G, Lee VW, Malone S, Matsuishi T, Mohammad SS, Mori T, Nishida H, Nosadini M, Takanashi JI, Mizuguchi M, Lim M, Dale RC. International consensus definitions for infection-triggered encephalopathy syndromes. Dev Med Child Neurol. 2025; 67: 195-207. doi: 10.1111/dmcn.16067.
3) Matsuda S, Mori T, Kasai M, Kohyama K, Nishida H, Abe S, Kuki I, Kumada S, Kurahashi H, Miyama S, Suzuki M, Takanashi J, Usami S, Yamaguchi S, Yamasaki S, Nishida A, Sakuma H. Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitis. Eur J Paediatr Neurol 2025: 54: 50-57.
4) Ochiai K, Omata T, Sano K, Sakuma H, Takanashi J. Potential role of perampanel in reducing barbiturate dependency in febrile infection related epilepsy syndrome: a case report. Cureus 17 (1): e77568. DOI 10.7759/cureus.77568. 5) Oguri M, *Okanishi T, Kuki I, Hamano SI, Ueta I, Nakamura Y, Inaba Y, Lee S, Takanashi JI, Togawa M, Onishi A, Maegaki Y. Automated differentiation of acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizures in acute phase. Sci Rep. 2025; 15: 32948. doi: 10.1038/s41598-025-17828-y.
6) *Ochiai K, Omata T, Sano K, Mutoh T, Takanashi J. Pediatric encephalomyeloradiculoneuropath y with high lactate in cerebrospinal fluid and magnetic resonance spectroscopy. J Child Neurol in press.
7) Sugiyama R, *Shimizu-Motohashi Y, Sakata Y, Omata T, Takanashi JI, Furukawa S, Nakashima M, Saitsu H, Sato N, Komaki H. Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants. Brain Dev. 2025; 47: 104442. doi: 10.1016/ j.braindev.2025.104442.
8) Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Jun-ichi Takanashi, et al. Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay. NPJ Genom Med 2025; 10: 60. doi: 10.1038/s41525-025-00521-4.
9) Suzuki Y, Uehara DT, Enokido Y, Kawai T, Nomura N, Yamada K, Takanashi JI, Miyahara H, Inazawa J, *Hayashi S. Transcript imbalance from TENM4 exon skipping: effects on epilepsy and genetic pleiotropy. Mol Neurobiol. 2025 Dec 26;63(1):324. doi: 10.1007/s12035-025-05559-0.
10) *Kimura S, Abe K, Ochiai K, Omata T, Takanashi JI. Comparative Assessment of Transcranial doppler and MRI perfusion imaging in a Japanese child with probable brain death. Cureus. 2025; 17: e99877. doi: 10.7759/cureus.99877.
11) *Tada H, Ichimoto K, Murayama K, Goto T, Takanashi J. New neuroimaging findings in enoyl- CoA hydratase short-chain 1 (ECHS1) deficiency. Cureus 2026 in press.
12) Kasai M, Sakuma H, Suzuki M, Nishiyama M, Kawata N, Lin JJ, Lin KL, Han V, Mohammad SS, Dale RC, Thomas T, Muramatsu K, Mitani O, Kobayashi Y, Ishida K, Yuichi Abe Y, Ichiro Kuki I, Jun- Ichi Takanashi JI. Life-Threatening SARS-CoV-2-Associated Encephalopathy and Multiorgan Failure in Children, Asia and Oceania, 2022-2024. Emerg Infect Dis 2026; 32(2):169-179. doi: 10.3201/ eid3202.250549.
13) Asahara R, Enokizono M, Ogawa E, Kawakami A, Miyama S, Takanashi J, Kono T. Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report. Brain Dev 2026; 48: 104516. DOI: 10.1016/j.braindev.2026.104516.
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