Galactosaemia – Board-Style Questions

What this deck covers

galactosaemia 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. Collapse in the first week
2. Waiting for the laboratory
3. A test at the cot side
4. Confirming it properly
5. Blood from somebody else
6. Cloudy lenses
7. What the diet does not prevent
8. A question for later
9. A result that needs no diet
10. Sicker than the post
11. Blood that will not clot
12. The cost of dairy-free
13. A difficult conversation
14. Never quite normal
15. The next pregnancy
16. A different enzyme
17. Worse with every feed
18. Years of follow-up

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: An inherited immune defect affecting his antibody production and function, Change to a lactose-free soya feed at once, before the result returns, Glucose spilling over into the urine from a high level in the blood, A raised level of galactose in the blood taken today, The donor cells carry working enzyme, so the result cannot be trusted, An infection acquired before birth that is affecting both of his eyes, Development will be entirely normal if the diet is followed, Early puberty with rapid growth through the school years, A milder variant pairing that usually needs no dietary change, The confirmatory test becomes unreliable if it is delayed, Disseminated intravascular coagulation from an overwhelming bacterial infection, Iron and folate, which a milk-free diet also tends to leave short, Breast milk is rich in lactose, so it must stop completely, Hidden lactose in her medicines is the usual explanation for a result like this.

Clinical pearls from this deck

• Gram-negative sepsis in a jaundiced newborn: think galactose.
• Stop the lactose on suspicion, not on the result.
• Reducing substances positive, glucose negative: galactose.
• The red cell enzyme is what confirms the diagnosis.
• A transfusion makes the red cell enzyme look normal.
• Oil-droplet cataract from galactitol, reversible early.

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.