Lysosomal Storage Disease – Board-Style Questions

What this deck covers

lysosomal storage 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. Normal at first
2. What is piling up
3. Clear windows
4. What the drip achieves
5. The window that closes
6. Wrinkled paper
7. The surgeon’s offer
8. Eyes that will not look down
9. Burning hands
10. A very big heart
11. Before the anaesthetic
12. Clumsy hands
13. Paddles and beaks
14. How it came down
15. Benefit slipping away
16. A tablet instead
17. Swollen before birth
18. Beyond the bloodstream

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Maternal enzyme crossed the placenta and protected him until recently, Glycosaminoglycan, the long sugar chains of connective tissue, Hurler syndrome, in which the cornea is cloudy from early childhood, Nothing improves at all; the infusions are given for research, Donor cells supply enzyme to the brain only before damage is done, Chronic myeloid leukaemia, with a huge spleen and a high white count, The spleen is the only organ that makes the missing enzyme, A posterior fossa tumour pressing on the cerebellum from behind, Fabry disease, with acroparaesthesiae and angiokeratomas, A dilated thin-walled ventricle with a prolonged QT interval, Prolonged paralysis because he cannot break down the relaxant, Carpal tunnel syndrome, which is very common in this disorder, Dysostosis multiplex, the skeletal signature of storage disease, A change arising new in the child, so no future pregnancy carries a risk.

Clinical pearls from this deck

• Storage builds slowly, so a child coarsens over time.
• Mucopolysaccharidoses store long sugar chains.
• Clear corneas in a boy point to Hunter syndrome.
• Infused enzyme reaches the liver, never the brain.
• Transplant early: donor cells can reach the brain.
• Crumpled tissue-paper storage cells mean Gaucher disease.

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.