PMID- 34540963 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20210921 IS - 2307-8960 (Print) IS - 2307-8960 (Electronic) IS - 2307-8960 (Linking) VI - 9 IP - 24 DP - 2021 Aug 26 TI - Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs: A case report. PG - 7085-7091 LID - 10.12998/wjcc.v9.i24.7085 [doi] AB - 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. CI - (c)The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. FAU - Chen, Hong-Bin AU - Chen HB AD - Department of Pulmonary and Critical Care Medicine, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. FAU - Xu, Xiao-Hong AU - Xu XH AD - Department of Pulmonary and Critical Care Medicine, People's Hospital of Hanchuan, Hanchuan 431600, Hubei Province, China. FAU - Yu, Cai-Gui AU - Yu CG AD - Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. FAU - Wan, Meng-Ting AU - Wan MT AD - Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. FAU - Feng, Chuang-Li AU - Feng CL AD - Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. FAU - Zhao, Zhi-Yu AU - Zhao ZY AD - Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. FAU - Mei, Dan-E AU - Mei DE AD - Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. FAU - Chen, Jin-Ling AU - Chen JL AD - Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. 77810848@qq.com. LA - eng PT - Case Reports PT - Journal Article PL - United States TA - World J Clin Cases JT - World journal of clinical cases JID - 101618806 PMC - PMC8409179 OTO - NOTNLM OT - Angioleiomyolipoma OT - Case report OT - Contrast ultrasonography OT - High-resolution chest computed tomography OT - Lymphangioleiomyomatosis OT - Tuberous sclerosis complex COIS- Conflict-of-interest statement: The authors declare that they have no conflicts of interest to report. EDAT- 2021/09/21 06:00 MHDA- 2021/09/21 06:01 PMCR- 2021/08/26 CRDT- 2021/09/20 06:15 PHST- 2021/04/29 00:00 [received] PHST- 2021/05/30 00:00 [revised] PHST- 2021/07/02 00:00 [accepted] PHST- 2021/09/20 06:15 [entrez] PHST- 2021/09/21 06:00 [pubmed] PHST- 2021/09/21 06:01 [medline] PHST- 2021/08/26 00:00 [pmc-release] AID - 10.12998/wjcc.v9.i24.7085 [doi] PST - ppublish SO - World J Clin Cases. 2021 Aug 26;9(24):7085-7091. doi: 10.12998/wjcc.v9.i24.7085.