Metabolic and Genetic Disorders Prometric Style Questions – 50 Cases with Answers

What this deck covers

Metabolic and Genetics — Prometric Style Questions, Set 1 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. Sick on day four
2. High ammonia, no acidosis
3. First move in the crisis
4. No ketones with a low sugar
5. Cataracts and a positive screen
6. Changing the milk at six days
7. Well until the fruit began
8. The other thing to avoid
9. Huge liver and quick lows
10. Fair, delayed and musty
11. Tall with dislocated lenses
12. Lenses that go upwards
13. A sweet smell on day six
14. A very big spleen and bone pain
15. Big organs and a red spot
16. Startle and a red spot
17. Coarse features and stiff joints
18. The floppy newborn with a murmur
19. Tall with small firm testes
20. A boy with a webbed neck
21. Very sociable with a heart murmur
22. Floppy first, then always hungry
23. Only the mothers pass it on
24. What the short father passes on
25. Younger in every generation
26. Big ears and a long face
27. A carrier mother’s children
28. Cousins asking about risk
29. Overlapping fingers at birth
30. Cleft, extra digits and scalp defects
31. Blue on feeding, pink on crying
32. One small side of the face
33. A tumour on the optic pathway
34. Tremor with a bad liver
35. Bright boy who is slipping
36. Severe pain and a soft belly
37. Twisted hair and seizures
38. Cataracts, floppy and rickets
39. Diabetes, deafness and failing sight
40. Strokes at twelve with deafness
41. Fits, rash and no hair
42. Adding a condition to the panel
43. Planning the next pregnancy
44. No speech and happy laughter
45. Four fractures and blue sclerae
46. Spasms and pale patches
47. Floppy with a huge heart
48. A big baby with a big tongue
49. Off the diet and expecting
50. Forty-six, not forty-seven

Diagnoses and management options tested

Across the fifty cases you are asked to choose between options such as: A urea cycle defect, Organic acidaemia, Galactose-1-phosphate uridyl transferase, Homocystinuria, Phenylketonuria, The cherry red spot, 47,XXY, A trinucleotide repeat expansion, Anticipation, Autosomal recessive conditions, Down syndrome, The fibrillin gene on chromosome 15, Wilson disease, A mitochondrial disorder.

Clinical pearls from this deck

• Treat a collapsed newborn for sepsis and for a metabolic disorder at the same time. The two look identical and only one of them is excluded by a culture.
• Measure the ammonia in every encephalopathic child, at any age. It is the one treatable cause that is missed simply because nobody sent the sample.
• The emergency treatment is the same before you know the diagnosis: stop the feeds, run the glucose. Waiting for a result is what causes the brain injury.
• Absent ketones during hypoglycaemia is never reassuring. It means either too much insulin or a block in fat oxidation, and both need finding.
• Send urine for reducing substances in every jaundiced vomiting newborn. A negative dipstick with a positive reducing test names the sugar the baby cannot handle.
• Hydrolysed formula solves a protein problem, not a sugar one. Read which component the child cannot handle before choosing the milk.

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.