| H01833 | |
| H number | H01833 |
| Name | Hemimegalencephaly |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H00915 Tuberous sclerosis complex, and H01788 Klippel-Trenaunay-Weber syndrome. |
| Other DBs | ICD-11: LA05.1 ICD-10: Q04.5 MeSH: D065705 |
| Reference | PMID:28377884 AUTHORS Ikeda KM, Mirsattari SM TITLE Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. JOURNAL Epilepsy Behav Case Rep 7:45-48 (2017) DOI:10.1016/j.ebcr.2017.02.002 PMID:26251796 AUTHORS Chrastina J, Novak Z, Brazdil M, Hermanova M TITLE Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly. JOURNAL J Neurol Surg Rep 76:e160-3 (2015) DOI:10.1055/s-0035-1554929 |