Q1

The section of the renal biopsy

shown was taken from an eight-
year-old girl. She had presented
with polyuria, anaemia and
growth failure.
Which one of the following is the most likely
diagnosis?
A. Lead nephropathy.
B. Medullary cystic disease.
C. Nephrogenic diabetes insipidus.
D. Post-infectious glomerulonephritis.
E. Systemic lupus erythematosus.
 Q2

A six-year-old
presents with the
eruption shown on
the right ear. It is
itchy but not sore.
Which one of the
following organisms
is the most likely to
be responsible?
A. Group A
Streptococcus.
B. Herpes simplex
virus.
C. Pseudomonas
 Q3
In the pedigree shown , III:3 is a woman
of normal intelligence. She has a family
history of mental retardation. Her
nephew IV:1 and her cousin III:1 have
recently been diagnosed with Fragile X
mental retardation.
The risk that she is a Fragile X carrier is
closest to:
The risk that she is a Fragile X
carrier is closest to:
A. 100%.
B. 50%.
C. 25%.
D. 1%.
E. nil.
 Q4
A 12-hour-old term male infant is transferred from
a rural town to a level three neonatal unit with
mild respiratory distress and an oxygen
requirement. The provisional diagnosis was
transient tachypnoea of the newborn. The chest
radiograph shown below was taken on arrival. His
oxygen saturation, measured from the left foot, is
95%. The FiO2 is 0.45.
Which one of the following is the most
appropriate next step?
A. Insert a chest drain.
B. Organise a thoracotomy.
C. Pass a nasogastric tube.
D. Start intravenous flucloxacillin.
E. Ventilate to achieve respiratory alkalosis.
 Q5

A three-year-old oncology
patient is being treated
with chemotherapy.
Which one of the following chemotherapy
drugs, on extravasation, is most likely to
have caused the appearance as shown
above?
A. Cyclophosphamide.
B. Cytosine arabinoside.
C. Ifosfamide.
D. Methotrexate.
E. Vincristine.
 Q6

A three-year-old boy was brought to your

office for evaluation of multiple skin lesions,
some of which are shown in the photograph
below. A presumptive diagnosis of
neurofibromatosis 1 (NF-1) is made but he
does not yet fulfil diagnostic criteria for
diagnosis.
Which one of the following is not one of the
diagnostic criteria for NF-1?
A. Acoustic neuroma.
B. Family history of NF-1.
C. Inguinal freckling.
D. Lisch nodules.
E. Optic glioma.
 Q7

A 10-year-old boy presents with a

six-month history of progressive
dyspnoea and palpitations. On
examination his respiratory rate is
35/minute with no overt distress.
The liver is palpable 3 cm below the
right costal margin. Occasional
crackles are audible in both bases.
His chest X-ray demonstrated
Which one of the following is the most likely
diagnosis?
A. Anomalous origin of the left coronary artery from
the pulmonary artery.
B. Idiopathic dilated cardiomyopathy.
C. Incessant atrial tachycardia.
D. Kawasaki disease with associated ischaemia.
E. Viral myocarditis.
 Q8

Two sisters developed a febrile illness with

coryza and sore throat. They were both
started on amoxycillin. One week later this
rash (shown below) appeared on their arms,
and the older girl aged 10, complained of stiff
joints.
Which one of the following is the most likely
cause?
A. Drug reaction.
B. Enterovirus infection.
C. Erythema infectiosum (fifth disease).
D. Roseola infantum (sixth disease).
E. Scarlatina.
 Q9

A four-month-old boy is investigated

following a urinary tract infection.
The micturating cystourethrogram is
shown below.
The appearance is least consistent with:
A. high-grade vesico-ureteric reflux.
B. neuropathic bladder.
C. posterior urethral valves.
D. triad or Prune Belly syndrome.
E. vesico-ureteric junction obstruction.
 Q10

A 14-year-old obese boy presents

with a velvety, pigmented rash
on his axillae and neck (shown
below).
Which one of the following investigations is the most
relevant for his future management?
A. Fasting serum cholesterol/triglyceride.
B. Fasting serum insulin/glucose ratio.
C. Plasma leptin.
D. Serum adrenocorticotrophic hormone (ACTH)/cortisol.
E. Serum thyroid-stimulating hormone.
 Q11

An eight-year-old boy presents with behavioural

problems and a noted deterioration in his
performance at school. Examination reveals mild
unsteadiness of gait and a slight brown
discolouration of the gums. A computed
tomography (CT) scan of his head is shown
below.
Which one of the following is most likely to
establish a diagnosis?
A. Magnetic resonance imaging (MRI) scan of the
brain.
B. Ophthalmological examination.
C. Plasma very-long chain fatty acid ratio.
D. Serum lead level.
E. White cell lysosomal enzymes.
 Q12

A four-year-old girl has had a sore,

swollen left knee for one month. She
is noted to have the abnormality
shown in the photograph below, on
examination of her eyes.
Which one of the following tests is most likely to
be positive?
A. Antinuclear antibody (ANA).
B. Extractable nuclear antigen (ENA).
C. Human leucocyte antigen B27 (HLA-B27).
D. Rheumatoid factor (RF).
E. Serum angiotensin-converting enzyme (ACE).
 Q13

AneonatewithDownsyndromeisfoundto
havehepatosplenomegaly.Fullblood
countresultsshow:
haemoglobin160g/L[140225]
nucleatedredcellcount5/100white
cells[<20]
whitecellcount110x109/L[930]
plateletcount150x109/L[150600]
The most likely diagnosis is:
A. acute erythroleukaemia.
B. acute lymphoblastic leukaemia.
C. acute megakaryoblastic leukaemia.
D. congenital infection.
E. transient abnormal myelopoiesis.
 Q14

An eight-year-old boy is being

investigated for short stature
and headache. A magnetic
resonance imaging (MRI) scan is
obtained and is shown below.
Which one of the following is the
most likely diagnosis?
A. Aneurysm.
B. Craniopharyngioma.
C. Metastatic tumour.
D. Optic glioma.
E. Pituitary adenoma.
 Q15

A two-year-old boy presents with a three-

month history of frequent, loose stools
and failure to thrive. His diet consists of
three bottles of cows milk per day and
two small meals, usually a Vegemite
sandwich for lunch, and chicken nuggets
and chips or plain pasta for dinner.
Stool culture is negative for bacterial
pathogens.
The most likely cause for his
symptoms is:
A. coeliac disease.
B. cows milk protein enteropathy.
C. pancreatic insufficiency.
D. post-gastroenteritis
enteropathy.
 Q16
An eight-year-old previously well girl presents with a
four-week history of increasing pallor, shortness of
breath and easy bruising. Her parents are vegetarians.
Physical examination confirms marked pallor, extensive
petechial rash over lower limbs with bruising of various
ages on trunk and limbs. There was no
lymphadenopathy present and the rest of her
examination was unremarkable. Full blood count
showed:
haemoglobin 48 g/L [115-150]
platelet count <10 x 109/L [150-400]
white cell count 0.9 x 109/L [5.0-14.5]
differential:
9
Which one of the following is the most
likely diagnosis?
A. Idiopathic aplastic anaemia.
B. Myelodysplastic syndrome.
C. Paroxysmal nocturnal haemoglobinuria.
D. Parvovirus infection.
E. Vitamin B12 deficiency.
 Q17

A five-year-old boy presents with a one-week

history of fever and malaise. He has a mild cough,
but no dyspnoea or tachypnoea and no chest
signs. His chest X-ray is shown below.
The chest X-ray shows which one of the
following?
A. Cryptococcoma.
B. Hydatid cyst.
C. Lung abscess.
D. Pneumatocele.
E. Round pneumonia.
 Q18
The tympanogram
shown below was
obtained from the right
ear of a six-year-old
child. Examine the five
air-conduction
audiograms shown
below. Which one of
these audiograms is
most likely to have
been obtained from
 Q19

A six-year-old boy, previously well, has a

one-week history of rhinitis followed by
cough and fever. His chest X-ray is shown
below.
The abnormality shown is most likely to
be due to which one of the following?
A. Hamartoma.
B. Metastatic lesion.
C. Neuroblastoma.
D. Pneumonia.
E. Tuberculosis.
 Q20

A two-month-old girl had a murmur identified at

birth. To your assessment now, she is pink and
thriving. She shows no signs of respiratory
distress or other signs of heart failure. The S2 is
single and there is a long systolic murmur heard
loudest at the left sternal edge. Her chest X-ray
is normal and her ECG is shown above.
Which one of the following is the most likely
diagnosis?
A. Aortic stenosis.
B. Atrial septal defect.
C. Physiological peripheral pulmonary
stenosis.
D. Small ventricular septal defect.
E. Tetralogy of Fallot.
 Q21

A 16-year-old intellectually disabled boy, living in

a community residential home, is brought to you
for re-evaluation of longstanding epilepsy and
autistic features. His seizures have been well
controlled over the last two years. He had early-
onset epilepsy and has been given a diagnosis of
autism. You notice unusual fingernails, which are
shown below.
Which one of the following is the most
likely diagnosis?
A. Fabry disease.
B. Lesch-Nyhan syndrome.
C. Neurofibromatosis.
D. Tuberous sclerosis.
E. Von Hippel-Lindau disease.
 Q22

An orthopaedic surgeon was asked to see this

teenager because of her foot deformities. The
surgeon is concerned about her lack of facial
animation and refers her to you. Her photograph
is shown below. You note that her mother has
the same expression and that the maternal
grandfather recently had bilateral cataract
surgery.
This familys disorder is characterised
by which one of the following
phenomena?
A. Anticipation.
B. Genomic imprinting.
C. Germinal mosaicism.
D. Lyonisation.
E. Uniparental disomy.
 Q23

A 15-year-old boy is brought to see his

paediatrician because of longstanding
difficulty climbing stairs. Examination reveals
symmetric proximal muscle weakness. A
photograph of his legs is shown below.
Which one of the following is the most
likely diagnosis?
A. Becker muscular dystrophy.
B. Charcot-Marie-Tooth disease.
C. Duchenne muscular dystrophy.
D. Myotonic dystrophy.
E. Spinal muscular atrophy.
 Q24

The child whose photograph and

electrocardiogram are shown (see
following page), has a loud systolic
ejection murmur at the upper left sternal
edge, radiating to the back and axillae.
Which one of the following is the most
likely diagnosis?
A. Congenitally corrected transposition of
the great arteries.
B. Primum atrial septal defect (ASD).
C. Pulmonary artery branch stenoses and
supra-aortic stenosis.
D. Pulmonary valve stenosis.
E. Secundum ASD.
 Q25

A 12-year-old boy with spastic quadriplegia presents

with a 24-hour history of vomiting. A gastrostomy tube
was inserted 12 months ago for supplementary enteral
feeding. Currently he has a balloon gastrostomy tube in
situ. Over the past 24 hours the patient has become
uncomfortable with oral drinks and solids, but has
tolerated gastrostomy tube feeds. This discomfort
appears to be relieved by vomiting. A barium study is
performed (shown below).
The most likely cause of the vomiting in this boy
is:
A. extravasation of feeds into the peritoneal
cavity.
B. gastric erosion secondary to irritation of the
gastrostomy tube tip.
C. migration of the gastrostomy balloon into the
stomal tract.
D. migration of gastrostomy tube into the
duodenum.
E. oesophageal stricture.
 Q26

A three-week-old boy presents with a one-week history of cough. The cough

is not present all the time but comes in bouts lasting up to a minute. For two
days the baby has been breathing faster and has been having difficulty
feeding. He has had no fever.
He was born by vaginal delivery at term to an 18-year-old primigravida
mother. The pregnancy was normal. He is bottle-fed. At one week of age he
developed bilateral conjunctivitis which responded to chloramphenicol eye
drops.
On examination the baby is afebrile. He is in mild respiratory distress, with a
respiratory rate of 52/minute, heart rate of 140/minute and moderate
intercostal recession. He is not cyanosed. He has some fine crackles audible
at both lung bases. His chest is not clinically hyperexpanded. His heart is not
enlarged and heart sounds are normal. His oxygen saturation by pulse
oximetry is 94%. His chest X-ray is shown (see following page).
Which one of the following is the most
likely infecting organism?
A. Bordetella pertussis.
B. Chlamydia trachomatis.
C. Group B Streptococcus.
D. Pneumocystis carinii.
E. Respiratory syncytial virus.
 Q27

A three-year-old girl presents with an

abnormal gait but no other symptoms.
Her photograph is shown below. Apart
from the abnormality shown, her
examination is otherwise normal.
Which one of the following is most
commonly associated with her
abnormality?
A. Craniopharyngioma.
B. Ewing sarcoma.
C. Osteosarcoma.
D. Retinoblastoma.
E. Wilms tumour.
 Q28

A 10-day-old baby with Down syndrome, born

after a high forceps delivery, develops poor
feeding, hypothermia and lethargy. A magnetic
resonance imaging (MRI) scan with contrast of
her brain was performed and is shown below.
The MRI is most suggestive of:
A. a cerebral abscess.
B. an infarct involving the right internal
capsule.
C. an intracerebral haematoma.
D. intracerebral calcification.
E. ring artefact.
 Q29

A male infant was born at 35 weeks gestation following premature

rupture of membranes. Hypothermia and unconjugated
hyperbilirubinaemia were problems during the newborn period.
He presents at six months with myoclonic seizures and is found to be
globally developmentally delayed. He is not rolling, does not reach for
objects (although he is reported to have done so previously) and does
not vocalise normally. There is generalised mild hypotonia but no
focal neurological signs. He has hair which breaks easily, leaving
generally short hair with a stubbly feel to his scalp. His photograph is
shown below. His mother is said to have had similar hair as a child. A
maternal uncle had seizures and developmental delay and died at
age three years.
Which one of the following investigations is
most likely to yield a diagnosis?
A. Cranial computed tomography (CT) scan
with contrast.
B. Nerve conduction studies.
C. Serum copper levels.
D. Serum zinc levels.
E. Urine metabolic screen.
 Q30

The child pictured below is noted to have

a grade 4/6 systolic murmur.
Which one of the following is the most likely
diagnosis?
A. Atrioventricular septal (A-V canal) defect.
B. Hypertrophic cardiomyopathy.
C. Pulmonary valve stenosis.
D. Supravalvular aortic stenosis.
E. Ventricular septal defect.
 Q31
A

A newborn infant delivered vaginally after a

pregnancy complicated by polyhydramnios,
presents with intermittent respiratory
distress. The radiograph shown (see previous
page) was taken.
Which one of the following is the
most likely cause of her
respiratory difficulties?
A. Congenital myotonic dystrophy.
B. Duodenal atresia.
C. H-shaped tracheo-oesophageal
fistula.
D. Meconium aspiration
 Q32
A 14-year-old boy presents with a history of recurrent
chest infections, often with wheeze, since five years of
age. He lives with his family on a sheep farm.
Over the last two years he coughs about half a cup of
green or yellow sputum into the sink each morning when
he wakes. He does not complain of breathlessness and
copes normally with school sports.
He looks well and has no finger clubbing. He is on the
25th percentile for height and weight. His chest is not
hyperexpanded and respiratory examination reveals only
coarse crackles at the left base. The rest of the physical
examination is normal. His chest X-ray is shown below.
Which one of the following is the most likely
diagnosis?
A. Bronchiectasis.
B. Cystadenomatoid malformation.
C. Diaphragmatic hernia.
D. Hydatid disease.
E. Staphylococcal pneumatoceles.
 Q33

A 14-year-old boy presents with a three-week

history of dyspnoea and a dry, hacking cough.
On examination there are diffuse crackles
throughout his chest and an enlarged liver. His
immunoglobulins are elevated and he has
eosinophilia. He has had recurrent parotid
swelling and a transient facial nerve lesion. His
chest X-ray is shown below.
Which one of the following is the most
likely diagnosis?
A. Churg-Strauss syndrome.
B. Lymphocytic interstitial pneumonitis.
C. Mycoplasma infection.
D. Sarcoidosis.
E. Sjgrens syndrome.
 Q34

An 11-year-old girl is referred because of recurrent

severe asthma and very high doses of inhaled steroids
and repeated courses of oral steroids (eight months on
oral steroids in the last 12 months). She complains of
severe shortness of breath with minimal exercise. She
has gained 7 kg in the past 12 months. She has missed
four months of school in the past year because of
respiratory illness. Her lung function tests are normal.
During an exercise test which she terminated at six
minutes of bicycling, she was noted to have severe
distress associated with stridor and inspiratory and
The most likely diagnosis is:
A. exercise induced asthma.
B. obliterative bronchiolitis.
C. psychogenic asthma.
D. recurrent spasmodic croup.
E. unstable asthma.
 Q35
A 12-year-old girl presents with a six-month
history of pain and colour change in her
fingers when exposed to cold. The fingers
go white in the cold, then blue and become
red and painful when they are warmed up.
Examination on a warm day reveals a well,
appropriately grown 12-year-old girl with
normal peripheral pulses and puffy fingers
but no trophic changes in the skin. Nail-fold
capillaroscopy is performed (shown below).
The photograph on the left shows a normal
Which one of the following is the most likely
cause of this clinical picture?
A. Mixed connective tissue disease.
B. Primary Raynaud phenomenon.
C. Rheumatoid arthritis.
D. Scleroderma.
E. Systemic lupus erythematosus.
 Q36

A 15-year-old boy presents following a syncopal

episode outside the headmasters office prior to
being reprimanded. The above rhythm strip (A)
was obtained by the ambulance officers upon
their arrival and the attached 12 lead
electrocardiogram (B) was obtained the
following day.
Which one of the following is the most
likely diagnosis?
A. Arrhythmogenic right ventricular
dysplasia.
B. Congenitally corrected transposition of
the great arteries.
C. Hyperparathyroidism.
D. Hypoparathyroidism.
E. Long QT syndrome.
 Q37

A three-year-old boy presents with a

three-day history of complaining of a
sore bottom, which is intensely itchy.
He complains particularly of pain on
defaecation and has a mucopurulent
anal discharge. His anal appearance is
shown below.
Which one of the following is the most
likely diagnosis?
A. Candidiasis.
B. Child sexual abuse.
C. Group A streptococcal infection.
D. Pruritus ani.
E. Threadworm infestation.
 Q38

The clinical photograph shown above was taken

soon after birth. The infant was delivered
vaginally at 34 weeks gestation after premature
onset of labour. Birth weight was 2800 g (>90th
percentile).
The lesion was covered with a polythene film, and
intravenous 10% dextrose was commenced
shortly after delivery. At one hour of age the
infants core temperature was 35.8C and the
plasma glucose was 0.8 mmol/L.
Which one of the following is the most likely
cause for the plasma glucose reading?
A. Abnormal insulin secretion.
B. Cold stress.
C. Defect in fatty acid oxidation.
D. Delayed serum cortisol response.
E. Impaired glycogenesis.
 ANSWERS
1. B 10.B 19. D 28.A 37.C

2. E 11.C 20.E 29.C 38.A

3. A 12.A 21.D 30.D

4. C 13.E 22.A 31.D

5. E 14.B 23.A 32.A

6. A 15.C 24.D 33.D

7. C 16.A 25.D 34.C

8. C 17.C 26.B 35.D

9. E 18.D 27.E 36.E