Key Clinical Message
We reported a patient presenting with tuberous sclerosis complex. Confirmatory diagnosis for the disorder by next-generation sequencing could contribute to induce awareness of health care personnel and patient’s family about the disease.
1. INTRODUCTION
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by the formation of hamartomas in multiple organs, most commonly in the brain, skin, heart, lungs, kidneys and eyes.1 Clinical manifestations and penetrance of the disease are highly variable and age-related, including epilepsy, mental disability, behavioral problems, angiofibromatosis, cardiac rhabdomyoma, renal angiomyolipoma, skin abnormalities.2,3 TSC is an inherited autosomal dominant disease with a high sporadic mutation rate, resulted from inactivating mutations in TSC 1 or TSC 2 tumor suppressor genes. TSC 2 encodes the 200-kDa protein tuberin of which mutations usually cause a more severe clinical phenotype.3