| H01833 | |
| H番号 | H01833 |
| 名称 | 片側巨脳症 |
| 概要 | Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated finding, or as part of a syndrome, such as hypomelanosis of Ito, tuberous sclerosis complex, epidermal nevus syndrome or Klippel-Trenaunay syndrome. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug resistant epilepsy is often treated with a hemispherectomy. If resective surgery is impossible, vagus nerve stimulation (VNS) can be used for seizure palliation. The etiology of hemimegalencephaly is not clear. Some authors consider abnormal neuroepithelial cell lineage as the primary cause. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00915 Tuberous sclerosis complex, and H01788 Klippel-Trenaunay-Weber syndrome. |
| リンク | ICD-11: LA05.1 ICD-10: Q04.5 MeSH: D065705 |
| 文献 | PMID:28377884 著者 Ikeda KM, Mirsattari SM タイトル Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. 雑誌 Epilepsy Behav Case Rep 7:45-48 (2017) DOI:10.1016/j.ebcr.2017.02.002 PMID:26251796 著者 Chrastina J, Novak Z, Brazdil M, Hermanova M タイトル Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly. 雑誌 J Neurol Surg Rep 76:e160-3 (2015) DOI:10.1055/s-0035-1554929 |