Diagnosis of Tuberous Sclerosis Complex with Multiple Organ Involvement using Computer Tomography: A Clinical Case Analysis

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease caused by mutations in the tumor suppressor genes TSC1 and/or TSC2. Its clinical manifestations include recurrent seizures, intellectual disability, and facial angiofibromas. Herein, we report the case of a patient with TSC wh...

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Bibliographic Details
Published inCT Li lun yu ying yong yan jiu Vol. 33; no. 3; pp. 359 - 364
Main Authors Yun LI, Kun XIE
Format Journal Article
LanguageEnglish
Published Editorial Office of Computerized Tomography Theory and Application 01.05.2024
Subjects
ct diagnosis
multiple organ involvement
tuberous sclerosis complex
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Summary:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease caused by mutations in the tumor suppressor genes TSC1 and/or TSC2. Its clinical manifestations include recurrent seizures, intellectual disability, and facial angiofibromas. Herein, we report the case of a patient with TSC who had recurrent seizures since childhood, shark skin nevus on the right occipital region, and multiple purple-red nodules on both cheeks. Computer tomography (CT) revealed multiple small calcifications around the lateral ventricles, pulmonary lymphangioleiomyomatosis, multiple renal angiomyolipomas, and multiple lipomatous lesions on the left ventricular wall. Through this case report, we aimed to improve the understanding of TSC.
ISSN:1004-4140
DOI:10.15953/j.ctta.2023.112