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