Abstract: 　Objective　To explore the clinical characteristics of tuberous sclerosis complex (TSC). Methods　The clinical data of one child with TSC were collected. The clinical features and gene mutation were analyzed. Results　A 36-dayold girl had abnormal nodules found by echocardiography, which was considered multiple cardiac rhabdomyomas. There were multiple hypomelanotic macules distributed over the skin surface of the trunk and legs. Cranial MRI showed cortical nodules, subependymal nodules and cerebral white matter radial migration line. A mutation in the TSC2 gene (c.4541-4544delCAAA) was found by second generation high-throughput sequencing technology and tuberous sclerosis complex was confirmed. Conclusion　Gene detection is helpful in the early diagnosis of tuberous sclerosis complex.