| H01808 | |
| H番号 | H01808 |
| 名称 | 片側痙攣・片麻痺・てんかん症候群 |
| 概要 | Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare condition involving sudden and prolonged unilateral seizures in infancy and early childhood, followed by hemiplegia. The prolonged focal motor seizure usually occurs during the course of a febrile illness and is followed by hemiplegia ipsilateral to the side of convulsions. Although hemiplegia is usually permanent, it may disappear in about 20% of cases. Some patients with familial hemiplegic migraine and manifesting the S218L mutation in CACNA1A were reported to experience severe attacks with unilateral cerebral edema after trivial head trauma. It has shown that CACNA1A associate with HHE and familial hemiplegic migraine, and suggested that similar pathogenic mechanisms may underlie these two disorders. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | CACNA1A [HSA:773] [KO:K04344] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00775 Familial or sporadic hemiplegic migraine. |
| リンク | ICD-11: 8A62.Y ICD-10: G40.5 |
| 文献 | PMID:22341151 著者 Auvin S, Bellavoine V, Merdariu D, Delanoe C, Elmaleh-Berges M, Gressens P, Boespflug-Tanguy O タイトル Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings. 雑誌 Eur J Paediatr Neurol 16:413-21 (2012) DOI:10.1016/j.ejpn.2012.01.007 PMID:24614781 著者 Bhat RY, Kakkar S, Prakashini K タイトル Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl. 雑誌 BMJ Case Rep 2014:bcr2013203482 (2014) DOI:10.1136/bcr-2013-203482 PMID:21824570 著者 Yamazaki S, Ikeno K, Abe T, Tohyama J, Adachi Y タイトル Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation. 雑誌 Pediatr Neurol 45:193-6 (2011) DOI:10.1016/j.pediatrneurol.2011.04.010 |