{"title":"Lennox–Gastaut Syndrome: Challenges in Diagnosis – Interviews with Two Key Opinion Leaders","authors":"Juliet George","doi":"10.33590/emjneurol/10307484","DOIUrl":"https://doi.org/10.33590/emjneurol/10307484","url":null,"abstract":"Lennox–Gastaut syndrome (LGS) is a severe childhood-onset epilepsy syndrome that can be challenging to identify due to its heterogeneous and evolving presentation. During interviews conducted by EMJ in July and August 2023, Karen Keough, a child neurologist specialising in paediatric refractory epilepsy at Texas A&M University School of Medicine, Round Rock, USA, and Rhys Thomas, an adult neurologist specialising in epilepsy (leading on learning disability and genetic testing) at the Royal Victoria Infirmary, Newcastle, UK, and Newcastle University, UK, gave their informed opinions on the challenges of diagnosing LGS. The experts spoke about the characteristic features of LGS, and how its gradual evolution from childhood onset can impede diagnosis. In particular, the issues around diagnosing LGS in adulthood, after considerable disease evolution and against a background of uncertain/incomplete medical history, were discussed. The experts also considered the 2022 International League Against Epilepsy (ILAE) position paper for the definition of epilepsy syndromes in childhood, and its potential impact for directing the diagnosis of LGS. Keough and Thomas concluded by describing how raised awareness, vigilance, and support in diagnosis could help to optimise treatment and readjust the goals for the management of adults and children with LGS.","PeriodicalId":496518,"journal":{"name":"European Medical Journal Neurology","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135646271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Have you diagnosed a patient with NMOSD or gMG?","authors":"None Alexion","doi":"10.33590/emjneurol/10300408","DOIUrl":"https://doi.org/10.33590/emjneurol/10300408","url":null,"abstract":"View our latest infographic, which provides updates in the field of neurological conditions, focusing on neuromyelitis optica spectrum disorder (NMOSD) and myasthenia gravis (gMG). These rare autoimmune diseases are detailed with prevalence statistics and primary treatment goals, as well as the common goal of ensuring an early and accurate diagnosis in order to optimise patient outcomes.","PeriodicalId":496518,"journal":{"name":"European Medical Journal Neurology","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135887458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings","authors":"Shubham Saini, Neha Bagri","doi":"10.33590/emjneurol/10302157","DOIUrl":"https://doi.org/10.33590/emjneurol/10302157","url":null,"abstract":"Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It is manifested by various neurological and non-neurological symptoms. The characteristic imaging features and clinical symptoms can help to make an early diagnosis and induce timely treatment to prevent neurological sequelae. The authors present two adults with differing clinical symptoms, whose imaging provided pivotal cues in diagnosing cerebrotendinous xanthomatosis.","PeriodicalId":496518,"journal":{"name":"European Medical Journal Neurology","volume":"187 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135065097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Infographic: What Does Seizure Freedom Really Mean?","authors":"None EMJ","doi":"10.33590/emjneurol/10305263","DOIUrl":"https://doi.org/10.33590/emjneurol/10305263","url":null,"abstract":"","PeriodicalId":496518,"journal":{"name":"European Medical Journal Neurology","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135675545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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