A case of tuberous sclerosis complex associated lymphangioleiomyomatosis and review of literatures

Lymphangioleiomyomatosis (LAM) is a rare, insidiously progressive, and low-grade neoplasm that selectively targets the lungs and preferentially affects women of reproductive age. It is characterized by bilaterally-distributed, thin-walled lung cysts. LAM occurs as two main forms, sporadic LAM (S-LAM) or tuberous sclerosis complex associated LAM (TSC-LAM). As an autosomal dominant disorder, TSC is mainly caused by genetic alteration in either TSC1 or TSC2 gene. The clinical manifestations of LAM include recurrent spontaneous pneumothorax, progressive dyspnoea, cough, chylothorax, and abdominal pain. Here we report a case of TSC-LAM in a 32-year-old Chinese female patient with a complaint of intermittent non-productive cough for one year. High-resolution computed tomography (CT) revealed multiple thin-walled lung cysts in a bilateral distribution. The patient also had facial angiofibromas, subependymal nodules (SENs), renal angiomyolipomas (AMLs), bone lesions, and elevated level of vascular endothelial growth factor D (VEGF-D). Whole exome sequencing (WES) analysis demonstrated nonsense mutation in TSC2 gene (c.3094C>T, p.Arg1032), confirming the diagnosis of TSC-LAM. Our aim is to discuss the case of TSC-LAM and review of current literatures including main pathogenesis, clinical manifestations, laboratory tests, and treatment regimens of this rare disease.