Li XP, Sun XL, Liu X, Wen Z, Jiang LH, Fu Y, Yue YL, Wang RG. Tuberous sclerosis complex combined with primary lymphedema: A case report. World J Clin Cases 2024; 12(15): 2642-2648 [PMID: 38817219 DOI: 10.12998/wjcc.v12.i15.2642]
Corresponding Author of This Article
Ren-Gui Wang, MD, PhD, Chief Doctor, Chief Physician, Full Professor, Department of Radiology, Beijing Shijitan Hospital Affiliated to Capital Medical University, No. 10 Yangfangdian Tieyi Road, Beijing 100038, China. wangrg@bjsjth.cn
Research Domain of This Article
Radiology, Nuclear Medicine & Medical Imaging
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. May 26, 2024; 12(15): 2642-2648 Published online May 26, 2024. doi: 10.12998/wjcc.v12.i15.2642
Tuberous sclerosis complex combined with primary lymphedema: A case report
Xing-Peng Li, Xiao-Li Sun, Xin Liu, Zhe Wen, Li-Hua Jiang, Yan Fu, Yun-Long Yue, Ren-Gui Wang
Xing-Peng Li, Xiao-Li Sun, Li-Hua Jiang, Yan Fu, Ren-Gui Wang, Department of Radiology, Beijing Shijitan Hospital Affiliated to Capital Medical University, Beijing 100038, China
Xin Liu, Department of Lymph Surgery, Beijing Shijitan Hospital Affiliated to Capital Medical University, Beijing 100038, China
Zhe Wen, Department of Nuclear Medicine, Beijing Shijitan Hospital Affiliated to Capital Medical University, Beijing 100038, China
Yun-Long Yue, Department of MRI, Beijing Shijitan Hospital Affiliated to Capital Medical University, Beijing 100038, China
Author contributions: Li XP and Wang RG were the major contributor in writing the manuscript and reviewing the literatures; Li XP, Wen Z and Jiang LH created figures and tables; Fu Y and Wen Z provided patient images information; Yue YL, Sun XL and Wang RG provided valuable comments; Liu X was the chief physician of the patient. All authors revised the manuscript and approved the final version.
Supported byNational Natural Science Foundation of China, No. 61876216.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ren-Gui Wang, MD, PhD, Chief Doctor, Chief Physician, Full Professor, Department of Radiology, Beijing Shijitan Hospital Affiliated to Capital Medical University, No. 10 Yangfangdian Tieyi Road, Beijing 100038, China. wangrg@bjsjth.cn
Received: February 4, 2024 Revised: March 8, 2024 Accepted: April 9, 2024 Published online: May 26, 2024 Processing time: 100 Days and 4.8 Hours
Abstract
BACKGROUND
Tuberous sclerosis complex (TSC) and primary lymphedema (PLE) are both rare diseases, and it is even rarer for both to occur in the same patient. In this work, we have provided a detailed description of a patient's clinical presentation, imaging findings, and treatment. And a retrospective analysis was conducted on 14 published relevant case reports.
CASE SUMMARY
A 16-year-old male came to our hospital for treatment due to right lower limb swelling. This swelling is already present from birth. The patient’s memory had been progressively declining. Seizures had occurred 1 year prior at an unknown frequency. The patient was diagnosed with TSC combined with PLE through multimodal imaging examination: Computed tomography, magnetic resonance imaging, and lymphoscintigraphy. The patient underwent liposuction. The swelling of the patient's right lower limb significantly improved after surgery. Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.
CONCLUSION
TSC with PLE is a rare and systemic disease. Imaging can detect lesions of this disease, which are important for diagnosis and treatment.
Core Tip: Tuberous sclerosis complex with primary lymphedema (TSC-PLE) is a rare, congenital and systemic disease closely related to gene mutations. The clinical manifestations of TSC-PLE are diverse. Multiple imaging methods can detect systemic organ and tissue lesions, which are important for clinical diagnosis and treatment. Rapamycin-targeted therapy is the main treatment for this disease and can simultaneously treat the symptoms of both TSC and PLE. Liposuction can effectively improve limb swelling in patients. This case is the 17th patient with TSC-PLE worldwide. And this case has comprehensive clinical, imaging, genetic testing and treatment.
