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Acute encephalopathy with biphasic seizures and late reduced diffusion

MedGen UID:
1645136
Concept ID:
C4707658
Disease or Syndrome
Synonyms: acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting frontal lobe; Acute infantile encephalopathy predominantly affecting the frontal lobes; acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF
SNOMED CT: Acute encephalopathy with biphasic seizures and late reduced diffusion (766044005); Acute infantile encephalopathy predominantly affecting frontal lobe (766044005)
 
Monarch Initiative: MONDO:0018198
Orphanet: ORPHA363549

Definition

Rare childhood-onset epilepsy syndrome associated with infection and a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes vary from normal to mild or severe sequelae including cerebral atrophy, intellectual disability, paralysis and epilepsy. [from SNOMEDCT_US]

Professional guidelines

PubMed

Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y
Brain Dev 2021 Jan;43(1):2-31. Epub 2020 Aug 20 doi: 10.1016/j.braindev.2020.08.001. PMID: 32829972
Miyahara H, Akiyama T, Waki K, Arakaki Y
Brain Dev 2018 Oct;40(9):781-785. Epub 2018 Jun 14 doi: 10.1016/j.braindev.2018.05.014. PMID: 29866486
Kashiwagi M, Tanabe T, Ooba C, Masuda M, Shigehara S, Murata S, Ashida A, Shirasu A, Inoue K, Okasora K, Tamai H
Brain Dev 2015 Jun;37(6):618-24. Epub 2014 Sep 29 doi: 10.1016/j.braindev.2014.09.003. PMID: 25277296

Recent clinical studies

Etiology

Miyamoto Y, Okanishi T, Maeda M, Kawaguchi T, Kanai S, Saito Y, Maegaki Y
Brain Dev 2022 Feb;44(2):122-130. Epub 2021 Oct 13 doi: 10.1016/j.braindev.2021.09.011. PMID: 34656360
Akiyama T, Toda S, Kimura N, Mogami Y, Hanaoka Y, Tokorodani C, Ito T, Miyahara H, Hyodo Y, Kobayashi K
Brain Dev 2020 May;42(5):402-407. Epub 2020 Feb 24 doi: 10.1016/j.braindev.2020.02.002. PMID: 32107100
Fujii Y, Yashiro M, Yamada M, Kikkawa T, Nosaka N, Saito Y, Tsukahara K, Ikeda M, Morishima T, Tsukahara H
Dis Markers 2018;2018:2380179. Epub 2018 Mar 14 doi: 10.1155/2018/2380179. PMID: 29725488Free PMC Article
Kurahashi N, Tsuji T, Kato T, Ogaya S, Umemura A, Yamada K, Kurahashi H, Maruyama K, Takeuchi T, Kubota T, Saitoh S, Natsume J, Okumura A
Pediatr Neurol 2014 Nov;51(5):701-5. Epub 2014 Jul 16 doi: 10.1016/j.pediatrneurol.2014.07.013. PMID: 25193414
Watanabe Y, Motoi H, Oyama Y, Ichikawa K, Takeshita S, Mori M, Nezu A, Yokota S
Pediatr Int 2014 Aug;56(4):577-82. Epub 2014 May 28 doi: 10.1111/ped.12288. PMID: 24418041

Diagnosis

Ohno A, Okumura A, Fukasawa T, Nakata T, Suzuki M, Tanaka M, Okai Y, Ito Y, Yamamoto H, Tsuji T, Kidokoro H, Saitoh S, Natsume J
Brain Dev 2022 Mar;44(3):221-228. Epub 2021 Dec 4 doi: 10.1016/j.braindev.2021.11.003. PMID: 34876315
Miyamoto Y, Okanishi T, Maeda M, Kawaguchi T, Kanai S, Saito Y, Maegaki Y
Brain Dev 2022 Feb;44(2):122-130. Epub 2021 Oct 13 doi: 10.1016/j.braindev.2021.09.011. PMID: 34656360
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y
Brain Dev 2021 Jan;43(1):2-31. Epub 2020 Aug 20 doi: 10.1016/j.braindev.2020.08.001. PMID: 32829972
Ma YL, Xu KL, Chen GH, Wang L, Wang Y, Jin ZP
Medicine (Baltimore) 2020 Oct 23;99(43):e22940. doi: 10.1097/MD.0000000000022940. PMID: 33120854Free PMC Article
Akiyama T, Toda S, Kimura N, Mogami Y, Hanaoka Y, Tokorodani C, Ito T, Miyahara H, Hyodo Y, Kobayashi K
Brain Dev 2020 May;42(5):402-407. Epub 2020 Feb 24 doi: 10.1016/j.braindev.2020.02.002. PMID: 32107100

Therapy

Austin-Keiller A, Saint-Martin C, Myers KA
Epileptic Disord 2024 Jun;26(3):365-368. Epub 2024 Feb 29 doi: 10.1002/epd2.20212. PMID: 38420707
Ma YL, Xu KL, Chen GH, Wang L, Wang Y, Jin ZP
Medicine (Baltimore) 2020 Oct 23;99(43):e22940. doi: 10.1097/MD.0000000000022940. PMID: 33120854Free PMC Article
Ito Y, Natsume J, Kidokoro H, Ishihara N, Azuma Y, Tsuji T, Okumura A, Kubota T, Ando N, Saitoh S, Miura K, Negoro T, Watanabe K, Kojima S
Epilepsia 2015 Aug;56(8):1286-93. Epub 2015 Jun 29 doi: 10.1111/epi.13068. PMID: 26118313
Nakazawa M, Akasaka M, Hasegawa T, Suzuki T, Shima T, Takanashi J, Yamamoto A, Ishidou Y, Kikuchi K, Niijima S, Shimizu T, Okumura A
Brain Dev 2015 Apr;37(4):418-22. Epub 2014 Jul 5 doi: 10.1016/j.braindev.2014.06.009. PMID: 25008803
Watanabe Y, Motoi H, Oyama Y, Ichikawa K, Takeshita S, Mori M, Nezu A, Yokota S
Pediatr Int 2014 Aug;56(4):577-82. Epub 2014 May 28 doi: 10.1111/ped.12288. PMID: 24418041

Prognosis

Ohno A, Okumura A, Fukasawa T, Nakata T, Suzuki M, Tanaka M, Okai Y, Ito Y, Yamamoto H, Tsuji T, Kidokoro H, Saitoh S, Natsume J
Brain Dev 2022 Mar;44(3):221-228. Epub 2021 Dec 4 doi: 10.1016/j.braindev.2021.11.003. PMID: 34876315
Miyamoto Y, Okanishi T, Maeda M, Kawaguchi T, Kanai S, Saito Y, Maegaki Y
Brain Dev 2022 Feb;44(2):122-130. Epub 2021 Oct 13 doi: 10.1016/j.braindev.2021.09.011. PMID: 34656360
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y
Brain Dev 2021 Jan;43(1):2-31. Epub 2020 Aug 20 doi: 10.1016/j.braindev.2020.08.001. PMID: 32829972
Ma YL, Xu KL, Chen GH, Wang L, Wang Y, Jin ZP
Medicine (Baltimore) 2020 Oct 23;99(43):e22940. doi: 10.1097/MD.0000000000022940. PMID: 33120854Free PMC Article
Watanabe Y, Motoi H, Oyama Y, Ichikawa K, Takeshita S, Mori M, Nezu A, Yokota S
Pediatr Int 2014 Aug;56(4):577-82. Epub 2014 May 28 doi: 10.1111/ped.12288. PMID: 24418041

Clinical prediction guides

Kasai A, Motobayashi M, Nishioka M, Fukuyama T, Inaba Y
Brain Dev 2023 Oct;45(9):487-494. Epub 2023 Jun 23 doi: 10.1016/j.braindev.2023.06.003. PMID: 37357027
Ohno A, Okumura A, Fukasawa T, Nakata T, Suzuki M, Tanaka M, Okai Y, Ito Y, Yamamoto H, Tsuji T, Kidokoro H, Saitoh S, Natsume J
Brain Dev 2022 Mar;44(3):221-228. Epub 2021 Dec 4 doi: 10.1016/j.braindev.2021.11.003. PMID: 34876315
Miyamoto Y, Okanishi T, Maeda M, Kawaguchi T, Kanai S, Saito Y, Maegaki Y
Brain Dev 2022 Feb;44(2):122-130. Epub 2021 Oct 13 doi: 10.1016/j.braindev.2021.09.011. PMID: 34656360
Kurahashi N, Tsuji T, Kato T, Ogaya S, Umemura A, Yamada K, Kurahashi H, Maruyama K, Takeuchi T, Kubota T, Saitoh S, Natsume J, Okumura A
Pediatr Neurol 2014 Nov;51(5):701-5. Epub 2014 Jul 16 doi: 10.1016/j.pediatrneurol.2014.07.013. PMID: 25193414
Watanabe Y, Motoi H, Oyama Y, Ichikawa K, Takeshita S, Mori M, Nezu A, Yokota S
Pediatr Int 2014 Aug;56(4):577-82. Epub 2014 May 28 doi: 10.1111/ped.12288. PMID: 24418041

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