Chen HB, Xu XH, Yu CG, Wan MT, Feng CL, Zhao ZY, Mei DE, Chen JL. Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs: A case report. World J Clin Cases 2021; 9(24): 7085-7091 [PMID: 34540963 DOI: 10.12998/wjcc.v9.i24.7085]
Corresponding Author of This Article
Jin-Ling Chen, MD, Chief Doctor, Department of Echocardiography, Renmin Hospital of Wuhan University, No. 238 Jiefang Road, Wuchang District, Wuhan 430060, Hubei Province, China. 77810848@qq.com
Research Domain of This Article
Respiratory System
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/
Hong-Bin Chen, Department of Pulmonary and Critical Care Medicine, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
Xiao-Hong Xu, Department of Pulmonary and Critical Care Medicine, People's Hospital of Hanchuan, Hanchuan 431600, Hubei Province, China
Cai-Gui Yu, Meng-Ting Wan, Chuang-Li Feng, Zhi-Yu Zhao, Dan-E Mei, Jin-Ling Chen, Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
Author contributions: Chen HB and Xu XH designed the report; Chen JL collected the patient’s clinical data; Yu CG, Wan MT, Feng CL, Zhao ZY, and Mei DE analyzed the data and wrote the paper; all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest to report.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jin-Ling Chen, MD, Chief Doctor, Department of Echocardiography, Renmin Hospital of Wuhan University, No. 238 Jiefang Road, Wuchang District, Wuhan 430060, Hubei Province, China. 77810848@qq.com
Received: April 29, 2021 Peer-review started: April 29, 2021 First decision: May 23, 2021 Revised: May 30, 2021 Accepted: July 2, 2021 Article in press: July 2, 2021 Published online: August 26, 2021 Processing time: 116 Days and 11.5 Hours
Abstract
BACKGROUND
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease characterized by the proliferation, metastasis, and infiltration of smooth muscle cells in the lung and other tissues, which can be associated with tuberous sclerosis complex (TSC). The disorder of TSC has a variable expression, and there is great phenotypic variability.
CASE SUMMARY
A 32-year-old Chinese woman with a history of multiple renal angioleiomyolipoma presented with a productive cough persisting for over 2 wk. High-resolution chest computed tomography revealed interstitial changes, multiple pulmonary bullae, bilateral pulmonary nodules, and multiple fat density areas of the inferior mediastinum. Conventional and contrast ultrasonography revealed multiple high echogenic masses of the liver, kidneys, retroperitoneum, and inferior mediastinum. These masses were diagnosed as angiomyolipomas. Pathology through thoracoscopic lung biopsy confirmed LAM. Furthermore, high-throughput genome sequencing of peripheral blood DNA confirmed the presence of a heterozygous mutation, c.1831C>T (p.Arg611Trp), of the TSC2 gene. The patient was diagnosed with TSC-LAM.
CONCLUSION
We highlight a rare case of TSC-LAM and the first report of a mediastinum lymphangioleiomyoma associated with TSC-LAM.
Core Tip: Lymphangioleiomyomatosis is a rare cystic lung disease that can be associated with tuberous sclerosis complex (TSC). The disorder of TSC has a variable expression and there is great phenotypic variability. A 32-year-old Chinese woman with a history of multiple renal angioleiomyolipoma since the age of 14 was diagnosed with TSC-lymphangioleiomyomatosis by high-resolution computed tomography, conventional and contrast ultrasonography, pathology through thoracoscopic lung biopsy, and high-throughput genome sequencing of peripheral blood DNA.
