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Published on: December 9, 2015
Clinical Manifestations of Tuberous Sclerosis: A Retrospective Analysis of 20 Cases
Xu Zhang1, Cong Xie1, Zhihua Si2
1Department of Gerontology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Jinan, China.
Introduction:
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.
Conclusion:
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.

