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

作　　者：Hong-Bin Chen Xiao-Hong Xu Cai-Gui Yu Meng-Ting Wan Chuang-Li Feng Zhi-Yu Zhao Dan-E Mei Jin-Ling Chen 

机构地区：[1]Department of Pulmonary and Critical Care Medicine,Renmin Hospital of Wuhan University,Wuhan 430060,Hubei Province,China [2]Department of Pulmonary and Critical Care Medicine,People's Hospital of Hanchuan,Hanchuan 431600,Hubei Province,China [3]Department of Echocardiography,Renmin Hospital of Wuhan University,Wuhan 430060,Hubei Province,China

出　　处：《World Journal of Clinical Cases》2021年第24期7085-7091,共7页世界临床病例杂志

摘　　要：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.Highresolution 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.

关 键 词：Tuberous sclerosis complex LYMPHANGIOLEIOMYOMATOSIS Angioleiomyolipoma High-resolution chest computed tomography Contrast ultrasonography Case report 

分 类 号：R563[医药卫生—呼吸系统] R597.9[医药卫生—内科学]