{"title":"半巨脑畸形伴成人癫痫发作,智力功能正常:罕见病例报告","authors":"Amit Kumar, Rajesh Chetiwal, Shweta Tanwar","doi":"10.4103/amhs.amhs_47_23","DOIUrl":null,"url":null,"abstract":"Hemimegalencephaly (HME) is one of the rarest congenital malformations of the brain characterized by abnormal enlargement of a cerebral hemisphere. It can present as an isolated sporadic form or associated with other neurodevelopmental syndromes. The classical clinical manifestation develops in infancy or early childhood and includes intellectual impairment, developmental delay, intractable epilepsy, and motor abnormalities. We report here an atypical case of HME with normal intellectual functions and adult-onset nonrefractory epilepsy demonstrating the wide variation in clinical expressivity of the disease.","PeriodicalId":8296,"journal":{"name":"Archives of Medicine and Health Sciences","volume":"23 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hemimegalencephaly with adult-onset seizures and normal intellectual function: A rare case report\",\"authors\":\"Amit Kumar, Rajesh Chetiwal, Shweta Tanwar\",\"doi\":\"10.4103/amhs.amhs_47_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hemimegalencephaly (HME) is one of the rarest congenital malformations of the brain characterized by abnormal enlargement of a cerebral hemisphere. It can present as an isolated sporadic form or associated with other neurodevelopmental syndromes. The classical clinical manifestation develops in infancy or early childhood and includes intellectual impairment, developmental delay, intractable epilepsy, and motor abnormalities. We report here an atypical case of HME with normal intellectual functions and adult-onset nonrefractory epilepsy demonstrating the wide variation in clinical expressivity of the disease.\",\"PeriodicalId\":8296,\"journal\":{\"name\":\"Archives of Medicine and Health Sciences\",\"volume\":\"23 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives of Medicine and Health Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/amhs.amhs_47_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of Medicine and Health Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/amhs.amhs_47_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Hemimegalencephaly with adult-onset seizures and normal intellectual function: A rare case report
Hemimegalencephaly (HME) is one of the rarest congenital malformations of the brain characterized by abnormal enlargement of a cerebral hemisphere. It can present as an isolated sporadic form or associated with other neurodevelopmental syndromes. The classical clinical manifestation develops in infancy or early childhood and includes intellectual impairment, developmental delay, intractable epilepsy, and motor abnormalities. We report here an atypical case of HME with normal intellectual functions and adult-onset nonrefractory epilepsy demonstrating the wide variation in clinical expressivity of the disease.