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      Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs: A case report

      case-report

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          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.

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          Most cited references5

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          European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis.

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            Genetics of tuberous sclerosis complex: implications for clinical practice

            Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense, and missense mutations, and all pathogenic mutations are inactivating, leading to loss of function effects on the encoded proteins TSC1 and TSC2. These proteins form a complex to constitutively inhibit mechanistic target of rapamycin (mTOR) signaling cascade, and as a consequence, mTOR signaling is constitutively active within all TSC-associated lesions. The mTOR inhibitors rapamycin (sirolimus) and everolimus have been shown to reduce the size of renal and brain lesions and improve pulmonary function in TSC, and these compounds may also decrease seizure frequency. The clinical application of mTOR inhibitors in TSC has provided one of the first examples of precision medicine in a neurodevelopmental disorder.
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              Lymphangioleiomyomatosis: what do we know and what are we looking for?

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                Author and article information

                Contributors
                Journal
                World J Clin Cases
                WJCC
                World Journal of Clinical Cases
                Baishideng Publishing Group Inc
                2307-8960
                26 August 2021
                26 August 2021
                : 9
                : 24
                : 7085-7091
                Affiliations
                Department of Pulmonary and Critical Care Medicine, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
                Department of Pulmonary and Critical Care Medicine, People's Hospital of Hanchuan, Hanchuan 431600, Hubei Province, China
                Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
                Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
                Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
                Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
                Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
                Department of Echocardiography, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. 77810848@ 123456qq.com
                Author notes

                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.

                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@ 123456qq.com

                Article
                jWJCC.v9.i24.pg7085
                10.12998/wjcc.v9.i24.7085
                8409179
                399e58c7-13fe-4c6a-91b9-61609dbcced4
                ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.

                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.

                History
                : 29 April 2021
                : 30 May 2021
                : 2 July 2021
                Categories
                Case Report

                tuberous sclerosis complex,lymphangioleiomyomatosis,angioleiomyolipoma,high-resolution chest computed tomography,contrast ultrasonography,case report

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