Mitochondrial Disease – Board-Style Questions

What this deck covers

mitochondrial 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. Too many systems at once
2. Down one side of the family
3. Two brothers, two illnesses
4. A reassuring number
5. Both sides, deep inside
6. Six weeks after a new drug
7. The drug her uncles had
8. It does not fit the map
9. What the stain shows
10. The eyes and the heart
11. Transfusions and greasy stools
12. The vitamins they read about
13. Last on the list
14. What the yearly bloods are for
15. A big liver at four months
16. Planning another baby
17. No variant in the small genome
18. What the years will look like

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A single organ disease whose other features are coincidental, Her mother passed it on, so only her own children can inherit it, The younger boy inherited his variant from a different parent altogether, It excludes the diagnosis, so no metabolic work is now needed, Necrosis of the basal ganglia and brainstem, as in Leigh syndrome, An unrecognised hepatitis A infection acquired at his nursery last month, Paracetamol, which accumulates and injures the inner ear over days, A slow-growing tumour that has bled into itself over several weeks, Ragged red fibres, abnormal mitochondria massed under the membrane, Cataract formation that closes off his vision within a few months, Diamond-Blackfan anaemia with an unrelated coeliac disease, A complete cure becomes available once the correct vitamin dose is found, He should go first, with a glucose-containing fluid used instead, Coeliac disease, which is far commoner here than in other children.

Clinical pearls from this deck

• Odd organs failing together: suspect energy failure.
• Mitochondrial DNA comes from the mother, never the father.
• Heteroplasmy: the mutant load decides the severity.
• A normal blood lactate never rules this out.
• Leigh syndrome: symmetrical deep grey and brainstem change.
• Valproate in POLG epilepsy can destroy the liver.

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.