Metabolic & Genetics — Prometric Style Questions, Set 2

What this deck covers

Metabolic and Genetics – Prometric Style Questions, Set 2 in 50 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 board, MRCPCH and Prometric examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 50 cases, in order

1. Low sugar with an empty stick
2. The plan for the next illness
3. Dark urine after sports day
4. Found after a missed feed
5. A heart that a supplement fixed
6. Both sides, exactly alike
7. The drug not to choose
8. One mutation, three outcomes
9. The trace that matters most
10. A number the tourniquet made
11. Two vomits and sleepy
12. Planning ahead for a pregnancy
13. Fasting for the anaesthetic
14. When the diet is not enough
15. He wants to eat like his friends
16. A phone call about the heel prick
17. Screening on the neonatal unit
18. Reassured by a normal screen
19. Adding to the panel
20. Parents who said no
21. Short limbs, average parents
22. The enzyme that was too low
23. Rickets that ignored the vitamin
24. Fragile bones and blue eyes
25. A chest too small to breathe
26. After a normal karyotype
27. A result nobody can interpret
28. Permission for the photographs
29. Measuring the face
30. One small finding alone
31. Fits no drug would stop
32. Losing skills at nine months
33. Why the vitamin helped
34. A fit at four months
35. He will not stand up
36. A rib that broke in the incubator
37. Bones too dense to work
38. Backache on long-term treatment
39. Bones and a missing period
40. Which parent it came from
41. Big baby, uneven limbs
42. Both tests came back negative
43. A carrier with symptoms
44. Present in some cells only
45. Confused during a viral illness
46. She never liked meat
47. An acid you cannot name
48. Choosing the drip
49. An unfamiliar hospital at night
50. Three admissions this year

Diagnoses and management options tested

Across the fifty cases you are asked to choose between options such as: That the sample was taken incorrectly, No further action, since a cause was found, Levetiracetam, As diagnostic of a mitochondrial disorder, Intravenous glucose, first on the list, That the baby has the condition and needs treatment, That the condition can be detected early, Nutritional vitamin D deficiency rickets, The degree of thoracic and pulmonary hypoplasia, Only the taking of the images, not their use, A third conventional antiseizure drug, Primary hypoparathyroidism, Osteopetrosis, Genomic imprinting.

Clinical pearls from this deck

• Take the bottles before the glucose goes in. The diagnosis is in that blood and nowhere else, and it lasts about ten minutes.
• The dangerous moment is a vomiting bug on a Saturday night. Make sure the drink is in the cupboard before that happens.
• Glucose here is not just for the sugar. It is what switches the body off burning the fat it cannot handle.
• The samples taken at post-mortem are how the living siblings get diagnosed. Nobody thinks of them at the time, and they cannot be obtained later.
• This cardiomyopathy is reversible with a supplement. Check a carnitine in every infant whose heart fails without explanation.
• Symmetry on the scan is the finding. Disease that mirrors itself perfectly is metabolic, not acquired.

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 metabolic and genetics case decks · pediatric reference values.