Table 3.

Consensus guideline recommendations for baseline assessment and ongoing monitoring of tuberous sclerosis complex (TSC)⁷

Organ system or specialty area	Recommendations
	Baseline workup for newly diagnosed or suspected TSC	Ongoing monitoring of definite or possible TSC
Genetics	▸Three-generation family history to determine TSC risk in additional family members ▸Offer genetic testing/family counselling	▸Genetic testing/family counselling in individuals of reproductive age or newly considering having children
Brain	▸MRI to identify presence of tubers, subependymal nodules, migrational defects and SEGA ▸Screen for TAND ▸Educate parents on infantile spasms during infancy ▸Perform baseline EEG; if abnormal, follow-up with 24-hour video EEG to assess for subclinical seizure activity	▸MRI every 1–3 years if asymptomatic and aged <25 years; more frequent MRIs in asymptomatic patients with large or growing SEGAs ▸Screen for TAND annually; comprehensive formal TAND evaluation at key developmental time points (particularly at 0–3, 3–6, 6–9, 12–16 and 18–25 years) ▸Routine EEG in patients with known or suspected seizure activity
Kidney	▸MRI of the abdomen to identify angiomyolipoma and renal cysts ▸Measure BP to screen for hypertension ▸Measure GFR to assess renal function	▸MRI of the abdomen every 1–3 years throughout lifetime of the patient ▸Measure BP and GFR annually
Lung	▸Baseline pulmonary function testing, 6-minute walk test and HRCT if at risk for LAM (typically women ≥18 years) ▸Counsel on smoking risks and oestrogen use	▸Clinical screening for LAM (ie, exertional dyspnoea) symptoms at each clinic visit ▸Ongoing counselling on smoking risks and oestrogen use for patients at risk for LAM ▸HRCT every 5–10 years in absence of lung cysts at baseline scan or every 2–3 years if lung cysts present ▸Pulmonary function testing and 6-minute walk test annually if lung cysts present at baseline
Heart	▸ECG in all ages to identify underlying conduction defects ▸Echocardiography in patients ≤3 years ▸If rhabdomyomas are identified via prenatal ultrasound, consider fetal echocardiography after delivery to assess risk for heart failure	▸ECG every 3–5 years in all ages if asymptomatic ▸Echocardiography every 1–3 years in asymptomatic paediatric patients until cardiac rhabdomyomas regress ▸Might necessitate more frequent or advanced diagnostics for symptomatic patients
Skin	▸Detailed dermatological examination	▸Detailed dermatological examination annually
Teeth	▸Detailed dental examination	▸Detailed dental examination every 6 months ▸Panoramic radiography by 7 years of age
Eye	▸Complete ophthalmological evaluation (including dilated funduscopy) to identify retinal lesions and visual field defects	▸Ophthalmological evaluations annually if ophthalmological lesions or vision symptoms present at baseline evaluation

Reproduced from Krueger DA, et al. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology 2013;49:255–65. Copyright 2013, with permission from Elsevier.

BP, blood pressure; GFR, glomerular filtration rate; HRCT, high-resolution chest CT; LAM, lymphangioleiomyomatosis; SEGA, subependymal giant cell astrocytoma; TAND, tuberous sclerosis complex–associated neuropsychiatric disorder.