Tuberous sclerosis complex (TSC): investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Tuberous sclerosis complex (TSC): investigations. Electrocardiogram (ECG), Echocardiogram, High resolution CT chest. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) abdomen: features

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Electroencephalogram (EEG)

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Other investigations

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Acronym

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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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