Tuberous sclerosis complex (TSC): investigations

Evidence-based neurology checklist on tuberous sclerosis complex (tsc): investigations: Cardiopulmonary investigations Electrocardiogram (ECG) Echocardiogram Foetal echocardiogram: if prenatal ultrasound suggests rhabdomyomas High resolution CT chest 6-minute time walk Pulmonary function test…

Cardiopulmonary investigations

  • Electrocardiogram (ECG)
  • Echocardiogram
  • Foetal echocardiogram: if prenatal ultrasound suggests rhabdomyomas
  • High resolution CT chest
  • 6-minute time walk
  • Pulmonary function test (PFTs) and 6-minute timed walk

Magnetic resonance imaging (MRI) brain: features

Magnetic resonance imaging (MRI) abdomen: features

Electroencephalogram (EEG)

Other investigations

Acronym

References

  1. Northrup H, Aronow ME, Bebin EM, et al. Updated International Tuberous Sclerosis Complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol 2021; 123:50-66.
  2. Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49:243-254.
  3. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 2015; 14:733-745.
  4. Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM 2019; 112:171-182.

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