Tuberous Sclerosis Complex – Board-Style Questions

What this deck covers

tuberous sclerosis complex in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Pale patches and a heart mass
2. Worse than her cousin
3. Big kidneys in the first year
4. The panel came back clear
5. Planning a second child
6. Three masses in the ventricles
7. No fits yet
8. Four drugs and still daily
9. Will she talk and play
10. Bigger on each scan
11. Pale after a fall
12. Growing but silent
13. Breathless at eighteen
14. Struggling at school
15. Spots across her nose
16. Something at the back of the eye
17. Orange peel on his back
18. Before the counselling

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: One major sign only, so she needs review, TSC2 on chromosome 16, the larger of the two, Angiomyolipomas replacing both of his kidneys, It overturns the clinical picture, so he is unaffected, Low, but a few percent from germline mosaicism, Cardiac catheterisation to define each tumour fully, No tests until her first clinical seizure happens, Adding carbamazepine as a fifth maintenance drug, Seizures starting in infancy, above all spasms, Oral high-dose dexamethasone, Urgent open removal of the whole left kidney, Nephrectomy of the right kidney this month, Lymphangioleiomyomatosis of the lungs, An EEG repeated at each yearly clinic visit.

Clinical pearls from this deck

• Macules plus a rhabdomyoma: two major criteria, confirmed.
• More tubers, more seizures: think TSC2 over TSC1.
• TSC with huge cystic kidneys in infancy: TSC2 with PKD1.
• No variant found? The clinical diagnosis still stands.
• Unaffected parents: low risk, never zero, from mosaicism.
• Rhabdomyomas on echo: always get an ECG too.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all Neurology case decks · pediatric reference values.