Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Objective To investigate the effect of FK506 on the in vitro ostengenic potential of rat bone marrow-derived mesenchymal stem cells(MSCs)and the dose-response effect of FK506(5-5000 nmol/ L)on the ostengenic potential of MSCs in vitro.Methods MSCs derived from primary culture were sub- cultured for 16 days under four conditions:(1)?-MEM containing L-ascorbicacid-2-phosphate(AsAP)and?-glycemphosphate(?-GP)(basic culture medium)as a control;(2) AsAP and?-GP(basic culture medi- um) plus dexamethasone;(3)AsAP and?-GP(basic culture medium)plus FK506,(4)AsAP and?-GP (basic culture medium)plus FK506 and dexamethasone.Osteogenie potential was determined by testing os- teoblastic morphology,cell proliferation,alkaline phosphatase(APase)activity,bone nodule formation and the expression of osteocalcin mRNA.Results FK506 promoted the proliferation of MSCs,induced mineral- izing bone-like nodule formation,and increased APase activity and the expression of osteocalcin mRNA.The data also showed that the efficacy of FK506 was greater when used in combination with dexamethasone.Opti- mal ostengenesis was achieved with?-MEM containing 0.25mmol/L AsAP,10mmol/L?-GP,10nmol/L dexa- methasone and 50nmol/L FK506.Conclusion FK506 has powerful ostengenic ablility.It can be consid- ered as an osteogenic agent to repair bone defects.