Maple Syrup Urine Disease – Board-Style Questions

What this deck covers

maple syrup urine disease 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. A caramel nappy
2. What the profile said
3. Pupils and posture
4. The other two
5. How much water
6. Asking about the next baby
7. A gentler course
8. First crisis at four
9. Where the water sits
10. The first hour at home
11. The daily plan
12. Around the mouth
13. Off the diet
14. Why illness is dangerous
15. What decides the outcome
16. The next baby arrives
17. Where the smell starts
18. Telling them apart

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Hypoxic ischaemic injury, A high leucine with alloisoleucine present, A seizure that has not been witnessed, Glycine and taurine, to help conjugate the excess ketoacids, Free water would worsen the swelling of the brain, Dominantly, with variable expression from generation to generation, Biotin, which restores the carboxylase enzymes, A first presentation of an epilepsy syndrome, Swelling within the myelinated tracts themselves, Wait until the morning and then ring the dietitian for advice, Ordinary food with a tablet taken before each meal, Candida infection of the moist skin folds, A liver graft supplies enough enzyme for a free diet, The infection blocks the enzyme still further.

Clinical pearls from this deck

• Well for days, then caramel and coma: think branched chain.
• Alloisoleucine present: the marker no healthy child has.
• Unequal pupil in a crisis: the brain is swelling.
• Withhold one, replace the other two: the level falls.
• Hypotonic fluid in a crisis feeds the brain swelling.
• Related parents, recessive disease: both carry the same fault.

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 genetics and metabolic case decks · pediatric reference values.