Paediatrics

Question 1

Neonate with >10% weight loss or birth weight not regained by 3 weeks — what does this indicate?

Answer 1

Red flag → Refer urgently. Suggests feeding problem or underlying pathology.

Question 2

Failure to pass meconium + failure to thrive + abdominal distension — most likely diagnosis?

Answer 2

Hirschsprung’s disease (aganglionic megacolon).

Question 3

Short adolescent boy with delayed puberty, low bone age, and positive family history — diagnosis?

Answer 3

Constitutional delay of growth and puberty (benign variant).

Question 4

Short stature + truncal obesity + low IGF-1 — likely cause and confirmatory test?

Answer 4

Growth hormone deficiency. Confirm with insulin tolerance test (ITT).

Question 5

Infant <6 months, winter season, wheeze + crackles — diagnosis?

Answer 5

Bronchiolitis (classically RSV).

Question 6

Child <5 years with wheeze occurring only during viral illnesses — diagnosis?

Answer 6

Viral-induced wheeze (not asthma).

Question 7

Seal-like barking cough with stridor and night-time worsening — diagnosis?

Answer 7

Croup (laryngotracheobronchitis).

Question 8

First-line management of croup?

Answer 8

Oral dexamethasone.

Question 9

When should a child with croup be admitted?

Answer 9

If there is persistent stridor or respiratory distress.

Question 10

Paroxysmal cough with inspiratory whoop and post-tussive vomiting — diagnosis?

Answer 10

Pertussis (whooping cough).

Question 11

Treatment of pertussis?

Answer 11

Clarithromycin (macrolide).

Question 12

Sore throat with drooling and tripod position — diagnosis?

Answer 12

Epiglottitis.

Question 13

Why is epiglottitis an emergency?

Answer 13

Risk of acute airway obstruction — requires urgent airway management.

Question 14

3–8-week-old infant with projectile vomiting and a palpable olive mass — diagnosis?

Answer 14

Pyloric stenosis.

Question 15

First-line investigation for suspected pyloric stenosis?

Answer 15

Ultrasound.

Question 16

Intermittent colicky abdominal pain with redcurrant jelly stools — diagnosis?

Answer 16

Intussusception.

Question 17

Diagnostic and therapeutic procedure for intussusception?

Answer 17

Air or contrast enema.

Question 18

Bilious vomiting 24–48 hours after birth with a double bubble sign on AXR — diagnosis?

Answer 18

Duodenal atresia.

Question 19

Neonate with no passage of meconium in first 48 hours and chronic constipation — diagnosis?

Answer 19

Hirschsprung’s disease.

Question 20

Confirmatory investigation for Hirschsprung’s disease?

Answer 20

Rectal biopsy.

Question 21

Well toddler with chronic diarrhoea, undigested food in stools, normal growth — diagnosis?

Answer 21

Toddler’s diarrhoea.

Question 22

Natural course of toddler’s diarrhoea?

Answer 22

Benign condition that resolves with age.

Question 23

Infant born by C-section with tachypnoea starting within 4 hours of birth — diagnosis?

Answer 23

Transient tachypnoea of the newborn (TTN).

Question 24

Term infant with meconium-stained liquor and respiratory distress — diagnosis?

Answer 24

Meconium aspiration syndrome (MAS).

Question 25

Preterm infant with ground-glass appearance on chest X-ray — diagnosis?

Answer 25

Respiratory distress syndrome (RDS).

Question 26

Preterm, formula-fed infant with distended, tender abdomen in the second week of life — diagnosis?

Answer 26

Necrotising enterocolitis (NEC).

Question 27

Postpartum woman with tender, erythematous wedge-shaped breast swelling and fever — diagnosis and treatment?

Answer 27

Mastitis — treat with flucloxacillin.

Question 28

Bilateral, shiny, tense breasts a few days postpartum — diagnosis and management?

Answer 28

Breast engorgement — encourage frequent feeding.

Question 29

Tender localized breast lump that improves after feeding — diagnosis and management?

Answer 29

Blocked duct — continue feeding and massage the area.

Question 30

Painless, mobile breast lump with milky discharge in a lactating woman — diagnosis?

Answer 30

Galactocele — benign and usually self-limiting.

Question 31

Infant <3 months with suspected UTI and no clear focus — what is the next step?

Answer 31

Urgent referral for assessment and management.

Question 32

Fever lasting more than 5 days with conjunctivitis and rash — what should you suspect?

Answer 32

Kawasaki disease.

Question 33

What analgesic/antipyretic practice should be avoided in children?

Answer 33

Avoid simultaneous use of paracetamol and ibuprofen.

Question 34

Hypotonia, single palmar crease, atrioventricular septal defect — diagnosis?

Answer 34

Down syndrome (Trisomy 21).

Question 35

Short female with primary amenorrhoea, webbed neck, and coarctation of the aorta — diagnosis?

Answer 35

Turner syndrome (45,XO).

Question 36

Elfin facies, hypercalcaemia, very friendly personality, supravalvular aortic stenosis — diagnosis?

Answer 36

Williams syndrome.

Question 37

Microphthalmia, cleft lip/palate, polydactyly, holoprosencephaly — diagnosis?

Answer 37

Patau syndrome (Trisomy 13).

Question 38

Rocker-bottom feet, overlapping fingers, micrognathia — diagnosis?

Answer 38

Edwards syndrome (Trisomy 18).

Question 39

Hyperphagia, truncal obesity, short stature — diagnosis?

Answer 39

Prader–Willi syndrome.

Question 40

Tall male with small testes, gynaecomastia, infertility — karyotype and diagnosis?

Answer 40

Klinefelter syndrome (47,XXY).

Question 41

Tall stature, lens dislocation, aortic root dilatation — diagnosis?

Answer 41

Marfan syndrome.

Question 42

Cleft palate, hypocalcaemia, congenital heart disease — diagnosis?

Answer 42

DiGeorge syndrome (22q11 deletion).

Question 43

Fair hair and skin, intellectual disability, musty body odour — diagnosis?

Answer 43

Phenylketonuria (PKU).

Question 44

Café-au-lait spots, axillary freckling, Lisch nodules — diagnosis?

Answer 44

Neurofibromatosis type 1 (NF1).

Question 45

Bilateral acoustic neuromas — diagnosis?

Answer 45

Neurofibromatosis type 2 (NF2).

Question 46

Seizures with ash-leaf spots and shagreen patches — diagnosis?

Answer 46

Tuberous sclerosis complex (TSC).

Question 47

Growth hormone deficiency Dx mx

Answer 47

Insulin tolerance test is goal standard Recombinant HGH