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Surveillance recommendations in tuberous sclerosis complex (TSC)

Surveillance recommendations in tuberous sclerosis complex (TSC)
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
At the time of diagnosis, many medical tests are performed. Individuals and parents should also be aware of routine testing that needs to be performed. This table shows suggested surveillance screening for TSC.
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.
* Treat infantile spasms with vigabatrin as first-line therapy. ACTH can be used as a second-line therapy if vigabatrin treatment is unsuccessful.
¶ Evaluate for LAM when symptoms such as unexplained chronic cough, chest pain, or breathing difficulties are present including exertional dyspnea and shortness of breath.
For the most recent version of TSC surveillance criteria, please visit: Northrup H, Aronow ME, Bebin EM, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol 2021; 123:50.
Reproduced with permission. Copyright © 2020 Tuberous Sclerosis Complex International.
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