Peroxisomal Disorders – Board-Style Questions

What this deck covers

peroxisomal disorders 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. A newborn nobody can wake
2. The chemical fingerprint
3. Speckles on the film
4. Short at the top
5. Dark skin, falling marks
6. The well brother
7. A narrow window
8. Her own future
9. Bumping into things
10. No smell at all
11. A diet that backfired
12. Pale stools at two months
13. How it reached him
14. What lies ahead
15. Where it begins
16. Every six months
17. Looking for an organelle
18. What the organelle does

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Trisomy 18, with clenched overlapping fingers, A raised C26 with a high C26 to C22 ratio and low plasmalogens, Rickets, with widening and fraying at the growing ends of bone, Hypochondroplasia, a milder disorder of the same growth plate, X-linked adrenoleukodystrophy, hitting brain and adrenal gland, Liver function, which fails first in nearly every affected boy, Corticosteroids in high dose for five days, then a slow taper, She is at high risk of the rapid brain disease that affects boys, A retinal dystrophy, which accompanies the deafness here, Friedreich ataxia, which also gives scoliosis and diabetes, Continue losing weight but add a daily multivitamin tablet, Alpha-1 antitrypsin deficiency of the classical type, From his mother, who carries it; his sisters may carry it too, Slow improvement is usual once the seizures are controlled.

Clinical pearls from this deck

• High forehead, big liver, speckled kneecaps: Zellweger.
• Raised C26 with low plasmalogens is the signature.
• Stippled cartilage means chondrodysplasia punctata.
• Short upper limbs with cataracts: the rhizomelic form.
• Dark skin with falling school marks in a boy: think ALD.
• In this disorder the adrenal often fails before the brain.

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.