pediatrics
Tuberous Sclerosis Complex (TSC)
Diagnosis of TSC
Clinical criteria Identification of the skin lesions Imaging of affected organs Molecular genetic testing The International Tuberous Sclerosis Complex Consensus Group has defined major and minor criteria for making a definite or possible diagnosis of TSC ( Diagnosis reference ) (see table Adefinite diagnosis of TSCby these criteria requireseitherof the following: The identification of either aTSC1orTSC2pathogenic mutation by molecular genetic testing Two major features or 1 major feature with 2 minor features Apossible diagnosis of TSCby these criteria requires the following: Either 1 major feature or ≥ 2 minor features Physical examination is done to check for typical skin lesions. Funduscopy should be done to check for retinal achromic patches. TSC may be suspected when fetal ultrasonography detects cardiac rhabdomyomas or when infantile spasms occur. Cardiac or cranial manifestations may be visible on routine prenatal ultrasonography. MRI or ultrasonography of the affected organs is necessary for confirmation. Specific genetic testing is available. 1.Northrup H, Aronow ME, Bebin EM, et al: Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations.Pediatr Neurol123:50-66, 2021. doi: 10.1016/j.pediatrneurol.2021.07.011 