Table 3

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

Organ system or specialty areaRecommendations
Baseline workup for newly diagnosed or suspected TSCOngoing monitoring of definite or possible TSC
  • 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

  • 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

  • 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

  • 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

  • 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

  • Detailed dermatological examination

  • Detailed dermatological examination annually

  • Detailed dental examination

  • Detailed dental examination every 6 months

  • Panoramic radiography by 7 years of age

  • 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.