| H01460 | |
| H番号 | H01460 |
| 名称 | ウエスト症候群; 点頭てんかん |
| 概要 | West syndrome, or infantile spasms (IS), is an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal electroencephalographic pattern (hypsarrhythmia), and (c) intellectual or neurodevelopmental disabilities. Most cases present at peak age of onset between 3 and 7 months, with 90% of patients presenting in the first year. The etiology of West syndrome is varied, ranging from structural, metabolic, unknown etiologies or genetic causes. Approximately 50% of cases have a prenatal cause, which includes central nervous system malformations, intrauterine insults, neurocutaneous syndromes such as tuberous sclerosis complex (TSC), metabolic disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | ARX [HSA:170302] [KO:K09452] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ニトラゼパム [DR:D00531] トリメタジオン [DR:D00392] プリミドン [DR:D00474] エトスクシミド [DR:D00539] クロナゼパム [DR:D00280] ビガバトリン [DR:D00535] テトラコサクチド酢酸塩 [DR:D02105] |
| コメント | - |
| リンク | ICD-11: 8A62.0 ICD-10: G40.4 MeSH: D013036 OMIM: 308350 |
| 文献 | PMID:25968935 著者 Galanopoulou AS, Moshe SL タイトル Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies. 雑誌 Neurobiol Dis 79:135-49 (2015) DOI:10.1016/j.nbd.2015.04.015 PMID:23312951 著者 Galanopoulou AS タイトル Basic mechanisms of catastrophic epilepsy -- overview from animal models. 雑誌 Brain Dev 35:748-56 (2013) DOI:10.1016/j.braindev.2012.12.005 PMID:20618396 著者 Chudomelova L, Scantlebury MH, Raffo E, Coppola A, Betancourth D, Galanopoulou AS タイトル Modeling new therapies for infantile spasms. 雑誌 Epilepsia 51 Suppl 3:27-33 (2010) DOI:10.1111/j.1528-1167.2010.02605.x PMID:20608959 著者 Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, Gaillard WD, Gibson PA, Holmes GL, Nordl DR, O'Dell C, Shields WD, Trevathan E, Wheless JW タイトル Infantile spasms: a U.S. consensus report. 雑誌 Epilepsia 51:2175-89 (2010) DOI:10.1111/j.1528-1167.2010.02657.x PMID:17668384 著者 Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K タイトル A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 雑誌 Am J Hum Genet 81:361-6 (2007) DOI:10.1086/518903 |