Intersection of two rare conditions:Clinical reflection on tuberous sclerosis combined with primary lymphedema  

作　　者：Xiao Wu Xiao-Hui Min Hai-Feng Xu M Jalal Ud Din Gang Zhang 

机构地区：[1]Department of Neurology,Children's Hospital of Nanjing Medical University,Nanjing 210008,Jiangsu Province,China [2]Department of Pediatrics,Peking University Shenzhen Hospital,Shenzhen 518036,Guangdong Province,China [3]Nanjing Medical University,Nanjing 210000,Jiangsu Province,China

出　　处：《World Journal of Clinical Cases》2025年第7期13-16,共4页世界临床病例杂志（英文）

摘　　要：This editorial discusses a case report recently published in the World Journal of Clinical Cases.The report describes the clinical presentation,imaging,diagnosis,and treatment of a patient with tuberous sclerosis complex(TSC)combined with primary lymphedema(PLE).Additionally,it retrospectively analyzes the data of 16 previously reported cases of children with TSC combined with PLE to summarize the epidemiology,genetic diagnosis,and current main treatments of these patients.The report also speculates on the pathological and physiological mechanisms underlying TSC combined with PLE.TSC combined with PLE is rare;therefore,the report provides a theoretical basis for understanding the pathophysiological mechanisms and treatment options for patients with TSC and PLE.Comprehensive clinical management of TSC is essential due to the diverse and multiorgan nature of its manifestations,often requiring a multidisciplinary approach for newly diagnosed cases.

关 键 词：Tuberous sclerosis complex LYMPHEDEMA EXAMINATION Diagnosis Treatment 

分 类 号：R733.2[医药卫生—肿瘤]