Procedure | For newly diagnosed or suspected TSC | For individuals already diagnosed with TSC |
Brain |
Brain MRI with and without gadolinium | Yes | Every 1 to 3 years up to age 25; periodically as adults if SEGAs present in childhood |
EEG | Yes; if abnormal, follow-up with 24-hour video EEG | Routine EEG determined by clinical need; video EEG when seizure occurrence is unclear or when unexplained behavioral or neurological changes occur |
TAND checklist | Yes | At least annually at each clinical visit |
Comprehensive evaluation for TAND | If warranted by TAND checklist analysis | At key development time points (years): 0 to 3, 3 to 6, 6 to 9, 12 to 16, 28 to 35, and as needed thereafter |
Counsel parents of infants | Educate parents to recognize infantile spasms* | Not applicable |
Skin, eyes, teeth |
Complete eye exam with dilated fundoscopy | Yes | Annually if lesions or symptoms identified at baseline |
Detailed skin exam | Yes | Annually |
Detailed dental exam | Yes | Every 6 months |
Panoramic radiographs of teeth | If age 7 or older | At age 7 if not done previously |
Heart |
Fetal echocardiography | Only if rhabdomyomas identified by prenatal ultrasound | Not applicable |
Echocardiogram | Yes in children, especially if younger than 3 years | Every 1 to 3 years if rhabdomyoma present in asymptomatic children; more frequently in symptomatic individuals |
ECG/EKG | Yes | Every 3 to 5 years; more frequently if symptomatic |
Kidneys |
Blood pressure | Yes | Annually |
Abdominal MRI | Yes | Every 1 to 3 years |
GFR test | Yes | Annually |
Lungs |
Clinical screening for LAM symptoms¶ | Yes | At each clinic visit |
Pulmonary function test and six-minute walk test | In all females age 18 or older; in adult males only if symptomatic | Annually if lung cysts detected by HRCT |
HRCT of chest | Yes | Every 2 to 3 years if lung cysts detected on HRCT; otherwise every 5 to 10 years |
Counsel on risks of smoking and estrogen use | In adolescent and adult females | At each clinic visit for individuals at risk of LAM |
Genetics |
Genetics consultation | Obtain three-generation family history | Offer genetic testing of TSC1/2 and counseling if not done previously in individuals of reproductive age |