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Q1: Definition, molecular basis and clinical presentation (2 min)
What is tuberous sclerosis complex? Describe the molecular basis (TSC1 / TSC2 genes, hamartin / tuberin proteins, mTORC1 pathway). What is the inheritance pattern, and how do TSC1 and TSC2 mutations differ in phenotype?
Q2: Cutaneous manifestations and the diagnostic criteria (3 min)
How does the cutaneous tetrad of TSC present and at what ages? Name each of the eight cutaneous features, classify them as major or minor criteria, and reproduce the 2012/2021 International TSC Diagnostic Criteria for "definite" and "possible" TSC. What is the role of Wood's lamp examination?
Q3: Investigations and organ-system staging (3 min)
Outline the multi-organ work-up you would organise at diagnosis. Brain MRI, echocardiogram, renal MRI, HRCT chest and serum VEGF-D, EEG and neuropsychology — what do you look for and in whom? When would you request genetic testing?
Q4: Management — infantile spasms, mTOR inhibitors, surveillance (4 min)
What is the first-line treatment for TSC-associated infantile spasms and at what dose? Describe the landmark trials (EXIST-1, EXIST-2, EXIST-3, MILES, TREATMENT) and their indications. What is the role of topical sirolimus for facial angiofibromas, and what mTOR-inhibitor adverse effects require monitoring?
Q5: Complications, prognosis and special scenarios (3 min)
Outline the organ-specific complications (SEGA, AML, LAM, infantile spasms), the typical prognosis with modern care, and the management of two special scenarios: (i) TSC2-PKD1 contiguous gene syndrome, (ii) pregnancy in a woman with TSC.