{"title":"结节性硬化症20例临床分析","authors":"Xu Zhang, Cong Xie, Zhihua Si, Ju Liu, Aihua Wang, Meng Kong, Jinzhi Liu, Zhangyong Xia","doi":"10.1159/000546608","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis (TSC) is an autosomal dominant genetic disorder with a wide range of clinical manifestations. This study aimed to retrospectively analyze the clinical records of TSC patients, focusing on the first onset times and age ranges for various symptoms.</p><p><strong>Methods: </strong>The clinical data of TSC patients were analyzed retrospectively, including general information, clinical manifestations, and treatment plans, with particular attention to the first onset times and age ranges for different symptoms.</p><p><strong>Results: </strong>The study found that 15 patients presented with different types of skin lesions, 13 patients, including 6 with intellectual disabilities, experienced epileptic seizures. Additionally, 14 patients had kidney damage, 6 showed varying degrees of cardiac involvement, and 8 exhibited lung lesions.</p><p><strong>Conclusions: </strong>By integrating the clinical features and imaging characteristics of TSC, multiple manifestations of the disease were identified, providing further clinical evidence for its recognition. This is beneficial for early monitoring and effective disease prevention and improvement.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-14"},"PeriodicalIF":2.1000,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical Manifestations of Tuberous Sclerosis: A Retrospective Analysis of 20 Cases.\",\"authors\":\"Xu Zhang, Cong Xie, Zhihua Si, Ju Liu, Aihua Wang, Meng Kong, Jinzhi Liu, Zhangyong Xia\",\"doi\":\"10.1159/000546608\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Tuberous sclerosis (TSC) is an autosomal dominant genetic disorder with a wide range of clinical manifestations. This study aimed to retrospectively analyze the clinical records of TSC patients, focusing on the first onset times and age ranges for various symptoms.</p><p><strong>Methods: </strong>The clinical data of TSC patients were analyzed retrospectively, including general information, clinical manifestations, and treatment plans, with particular attention to the first onset times and age ranges for different symptoms.</p><p><strong>Results: </strong>The study found that 15 patients presented with different types of skin lesions, 13 patients, including 6 with intellectual disabilities, experienced epileptic seizures. Additionally, 14 patients had kidney damage, 6 showed varying degrees of cardiac involvement, and 8 exhibited lung lesions.</p><p><strong>Conclusions: </strong>By integrating the clinical features and imaging characteristics of TSC, multiple manifestations of the disease were identified, providing further clinical evidence for its recognition. This is beneficial for early monitoring and effective disease prevention and improvement.</p>\",\"PeriodicalId\":12065,\"journal\":{\"name\":\"European Neurology\",\"volume\":\" \",\"pages\":\"1-14\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-06-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000546608\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000546608","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Clinical Manifestations of Tuberous Sclerosis: A Retrospective Analysis of 20 Cases.
Background: Tuberous sclerosis (TSC) is an autosomal dominant genetic disorder with a wide range of clinical manifestations. This study aimed to retrospectively analyze the clinical records of TSC patients, focusing on the first onset times and age ranges for various symptoms.
Methods: The clinical data of TSC patients were analyzed retrospectively, including general information, clinical manifestations, and treatment plans, with particular attention to the first onset times and age ranges for different symptoms.
Results: The study found that 15 patients presented with different types of skin lesions, 13 patients, including 6 with intellectual disabilities, experienced epileptic seizures. Additionally, 14 patients had kidney damage, 6 showed varying degrees of cardiac involvement, and 8 exhibited lung lesions.
Conclusions: By integrating the clinical features and imaging characteristics of TSC, multiple manifestations of the disease were identified, providing further clinical evidence for its recognition. This is beneficial for early monitoring and effective disease prevention and improvement.
期刊介绍：
''European Neurology'' publishes original papers, reviews and letters to the editor. Papers presented in this journal cover clinical aspects of diseases of the nervous system and muscles, as well as their neuropathological, biochemical, and electrophysiological basis. New diagnostic probes, pharmacological and surgical treatments are evaluated from clinical evidence and basic investigative studies. The journal also features original works and reviews on the history of neurology.
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