Family evaluation following a new diagnosis of tuberous sclerosis complex (TSC)
Family evaluation following a new diagnosis of tuberous sclerosis complex (TSC)
Approximately two-thirds of individuals with TSC have a de novo variant; the remaining one-third inherit a pathogenic variant in TSC1 or TSC2 from a parent. Genetic testing of at-risk children should be performed as early as possible to facilitate indicated evaluations and management interventions (eg, seizure prevention). Genetic testing can also exclude TSC in an at-risk sibling and allow the child to avoid extensive evaluations if not indicated. Refer to UpToDate for management implications.
TSC: tuberous sclerosis complex. * Clinical manifestations of TSC include seizures, brain lesions, skin lesions (shagreen patches, ash leaf spots), kidney tumors, and others. Refer to UpToDate for a complete listing. ¶ In an estimated 15% of individuals with TSC, a pathogenic variant cannot be identified. In these cases, first-degree relatives are evaluated clinically for TSC. Consultation with a TSC expert or genetics specialist is advised to determine if testing was adequate and to provide further advice.
