Neurofibromatosis Type 1 – Board-Style Questions

What this deck covers

neurofibromatosis type 1 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. Patches in mother and son
2. An affected mother
3. What will show up next
4. Specks on the iris
5. Well, and asking for a scan
6. Vision getting worse
7. A bowed shin in infancy
8. One eye pushed forward
9. Above the top line
10. Too many too early
11. An incidental finding
12. Yellow spots on the scalp
13. Only on one side
14. New bumps as a teenager
15. Bright spots on the scan
16. Something to plot each visit
17. Can’t sit still in class
18. A lump that aches

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Constitutional mismatch repair deficiency, She meets them already, as the parent counts, Numerous dermal nodules over the trunk, Kayser-Fleischer rings from copper excess, Advise no screening scan while she is well, Focal radiotherapy directed to the optic chiasm, Reassurance, as this is normal physiological bowing, A carotid-cavernous fistula after injury, Routine follow-up, since a large head is typical, A single missense change at codon 844 of the gene, Carboplatin with vincristine started this month, Molluscum contagiosum from a viral skin infection, Segmental disease from a postzygotic NF1 variant, Lipomas, which will grow at the same rate.

Clinical pearls from this deck

• Macules, negative NF1 test: think SPRED1 and Legius.
• Affected parent plus macules: the criteria are met.
• NF1 skin order: macules, skinfold freckles, then nodules.
• Tan dome-shaped iris spots in NF1: Lisch nodules.
• Well child with NF1: no routine brain scan.
• NF1 glioma threatening sight: chemotherapy, not radiation.

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.