Rett Syndrome – Board-Style Questions

What this deck covers

Rett syndrome 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. The main criterion
2. Plotting the head
3. Before the change
4. Where it came from
5. A boy with an extra copy
6. Seizures from week six
7. Always laughing
8. Fast, then still
9. Seizure or not
10. Cold purple feet
11. Some words came back
12. A break from a transfer
13. A specific medicine
14. Finding a voice
15. Calmer this year
16. Stiffer in her teens
17. How long
18. Her uncle

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Seizures beginning in the first three months of life, Growth that slows after a normal size at birth, In the first weeks of life, with no early development, It is usually caused by the mother’s age at conception, An Xq28 duplication, often inherited from a carrier mother, Childhood absence epilepsy, Fragile X syndrome, from a CGG expansion, Central apnoea that worsens as she enters deep sleep, Video telemetry with EEG to capture the events, Raynaud phenomenon from an underlying connective tissue disease, Typical disease, as seen in most girls with the gene, A vitamin C deficiency with bleeding into the bone, Trofinetide, with diarrhoea its most common adverse effect, Sign language, taught intensively at school.

Clinical pearls from this deck

• Rett: the hands stop being used, and start wringing.
• Rett: normal head at birth, then growth slows.
• Rett regression: usually between one and four years.
• Rett variants usually arise new, on the father’s X.
• Boy, hypotonia and chest infections: Xq28 duplication.
• Seizures from the first weeks and Rett-like: CDKL5.

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.