摘要 : Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder associated with an enormous range of physical and neuropsychiatric manifestations. Over the last few decades' significant progress has been made in understanding ... 展开 Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder associated with an enormous range of physical and neuropsychiatric manifestations. Over the last few decades' significant progress has been made in understanding the molecular biology of the disorder, and TSC is now one of the first genetic conditions with molecularly targeted treatment options. Given the significant advances in the scientific study of TSC, revised diagnostic criteria and evidence-based consensus guidelines for the assessment, surveillance and treatment of TSC were published. Here we present an update of TSC for paediatricians and other clinicians who work with individuals and families living with the disorder. 收起