Version July 2025
| 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, and 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 symptomsΔ | 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 |
ACTH: adrenocorticotropin (also called corticotropin); ECG/EKG: electrocardiogram; EEG: electroencephalogram; GFR: glomerular filtration rate; HRCT: high resolution computed tomography; LAM: lymphangioleiomyomatosis; MRI: magnetic resonance imaging; SEGA: subependymal giant cell astrocytoma; TAND: TSC-associated neuropsychiatric disorders; TSC: tuberous sclerosis complex.
* While gadolinium can be used to better demonstrate SEGAs, guidelines recommend avoiding contrast agents for brain imaging unless there is an enlarging lesion or clinical suspicion for SEGA.
¶ Treat infantile spasms with vigabatrin as first-line therapy. ACTH can be used as a second-line therapy if vigabatrin treatment is unsuccessful.
Δ Evaluate for LAM when symptoms such as unexplained chronic cough, chest pain, or breathing difficulties are present including exertional dyspnea and shortness of breath.