A Misdiagnosed Case of Tuberous Sclerosis and Literature Review

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that affects multiple organs.TSC is caused by inactivating mutations in TSC subunit 1 (TSC1) or TSC2 genes.The main symptoms of TSC are skin abnormalities, intellectual disability, and hamartomas.The clinical manifestations of TSC are complex and varied, and the disease is frequently misdiagnosed.In this case report, we describe a patient who experienced symptoms from the age of 10 to 54 years, during which multiple treatments were attempted at different hospitals without a definitive diagnosis.After a thorough examination, compound heterozygous mutations in TSC2 were identified in the patient at the age of 56 years, leading to the diagnosis of TSC.Palliative treatment was subsequently initiated.