1-A 9 week old infant is brought in to the emergency department unresponsive.

Her mother says she has been well apart from episodes of screaming most
evenings, which last several hours at a time. She was born at 38+2/40 weighing
3.1 kg and there were no neonatal problems. Parents are unmarried teenagers.
On examination she has 3 small ecchymoses on her face. She has a temperature
of 34.5C, respiratory rate of 30/min (irregular pattern), heart rate 130/min. She
is floppy with a full fontanelle. Fundoscopy shows flame-shaped haemorrhages.
BM stix is 3.9 mmol/l.
What is the most likely diagnosis?
(Please select 1 option)

Congenital toxoplasmosis
Hepatic failure
Late vitamin K deficiency
Reye syndrome
Shaken baby syndrome

Correct

The history suggests a previously healthy child with colic and inexperienced
parents. The facial bruising suggests grip marks. Given the full fontanelle,
comatose state of the child, and flame-shaped haemorrhages, shaken baby
syndrome is most likely. It is important to exclude infection with Disseminated
Intravascular Coagulation or a coagulopathy.

2-A 14-year-old girl presents with muscle weakness, lassitude, anorexia and
weight loss over a 6 week period. Suddenly she collapses and becomes cyanosed
and clammy. She has previously been well. Full term normal delivery with no
neonatal complications. Immunisations up to date. Mother has hypothroidism.
On examination she is apyrexial, with shallow breathing and thready pulse at
140/min. BP is 80/60 mmHg and Oxygen saturation 85%. She has pigmentation
along lines of pressure. She responds to pain.
What is the most likely diagnosis?
(Please select 1 option)

Adrenal insufficiency

Correct

Diabetes mellitus
Guillain-Barre syndrome
Muscular dystrophy
Myasthenia gravis

The history is of generalised unwellness for several weeks plus abnormal pigmentation,
followed by sudden collapse with shock and low BP. The picture suggests acute on chronic
adrenal failure. Addison's disease can occur as part of a polyendocrinopathy. Type 1 is
associated with cutaneous candidiasis and ectodermal dysplasia. Type 2 is associated with
thyroid disease and diabetes. Treatment is vigorous salt replacement (N. saline) and
hydrocortisone after baseline endocrine tests are done (ACTH, cortisol, renin, aldosterone,
17-0H progesterone, adrenal androgens).

3-A 28/40 gestation infant is born weighing 980g by spontaneous vaginal

delivery. He has apgars of 8 at 1 minute and 9 at 5 minutes. He begins to grunt
at 15 minutes of age, soon after reaching the neonatal unit. His oxygen
requirement progressively rises over the next hour from 25% to 40% oxygen by
headbox. No family or social history of note.
On examination the temperature is 36.5C, respiratory rate 60/min moderate
recession and grunting. Heart rate 150/min with Oxygen saturations of 89-91% in
40% headbox oxygen.
What is the most likely diagnosis?
(Please select 1 option)

Congenital diaphragmatic hernia

Congenital pneumonia
Meconium aspiration
Surfactant-deficient lung disease

Correct

Transient tachypnoea of the newborn

The most likely diagnosis is surfactant-deficient lung disease. This results in reduced lung
compliance, and a progressive rise in the need for O2 and respiratory support. Intubation,
surfactant administration, and a few days of ventilatory support are highly effective in
supporting the child through the acute illness. A small proportion have continuing O2
requirement beyond 36/40 Corrected gestation due to 'Chronic lung disease'.

4-A 3-year-old girl presents with pallor and marked gland enlargement. She has
been unwell for the past 3 weeks. Full term normal delivery, no neonatal
problems. Immunisations up to date. No family or social history of note.
On examination the temperature is 37.6C, and she looks pale and unwell. She
has a few petechiae on the neck and palate, with moderate generalised
lymphadenopathy and an 3 cm spleen.
What is the most likely diagnosis?
(Please select 1 option)

Acute leukaemia

Correct

Cough petechiae
HIV
Idiopathic thrombocytopaenic purpura
Non-Hodgkin Lymphoma
The history is of enlarged reticuloendothelial system with abnormalities in all 3 cell lines of
the bone marrow (pallor, fever and petechiae). The most likely diagnosis is therefore acute
(lymphoblastic) leukaemia. Lymphadenopathy may be prominent: mediastinal nodes are
characteristic of T-cell leukaemia.

5-A 3-year-old boy is referred with an incidental heart murmur, discovered

during a recent URTI. He has never been blue nor breathless and is otherwise
healthy. Full term normal delivery, no neonatal problems. Immunisations up to
date. No family or social history of note.
On examination the temperature is 36.6C, respiratory rate 20/min and pulse is
100/min. Pink in air with no dysmorphic features. Pulses of normal volume,
normal praecordium and apex beat. Heart sounds normal, with 2/6 ejection
murmur maximal at the upper left sternal border and conducted to the back. No
liver palpable.
What is the most likely diagnosis?
(Please select 1 option)

Aortic coarctation
Atrial septal defect, secundum

Incorrect answer selected

Innocent murmur
Pulmonary stenosis

This is the correct answer

Ventricular septal defect

The history is of a healthy boy with heart murmur, maximal in the pulmonary area
and conducted along the line of the pulmonary arteries. This is likely to be due to
pulmonary stenosis. In valvular stenosis an ejection click may be heard. The
requirement for treatment can be gauged by measuring the transvalvular
gradient on echodoppler. Pulmonary valvotomy may be possible via a cardiac
catheter. Valve replacement may be required later. Antibiotic prophylaxis is
essential to reduce the risk of endocarditis. An innocent murmur is not conducted,
no louder than 2/6, and either blowing (venous hum) or vibratory. Both tend to
change with posture.

6-A child aged 10 days has ambiguous genitalia. Which of the following may be causative.
(Please select 1 option)

if a buccal smear is chromatin negative there is a serious risk of an Addisonian

crisis
a raised urinary output of pregnanetriol would confirm a diagnosis of congenital
adrenal hyperplasia

This is the correct answer

the finding of the genotype 45 XO would reliably explain the anomaly

if testicles are present in the "labia" an acceptable explanation would be
Klinefelter's syndrome
the most important factor in deciding the sex to which the child should be
assigned is the genetic (chromosomal) sex

Incorrect answer selected

If the buccal smear positive ie female then there would be at increased risk of salt crisis.
Salt losers presenting in newborn period with crisis are more likely to be female. The
commonest cause of ambiguous genitalia at birth is CAH, of which 95% are deficient in 21hydroxylase. Less common enzyme defects involve 11B hydroxylase, and 3B
hydroxysteroid dehydrogenase. About 2/3 of 21-hydroxylase are salt losers, and present
with an hypoadrenal crisis. There is normal male genitalia in 47 XXY Klinefelters and
Turners - XO. In intersex states, the assignation of sex is not totally based on the
karyotype. Online lecture on sexual differentiation (Flash)

7-Which of the following conditions is most compatible with survival to term?

(Please select 1 option)

trisomy 13
trisomy 18
monosomy X (45,X Turner syndrome)
monosomy 21
trisomy 21

Correct

The most likely disorder from the above list that would survive to term is trisomy of C21 as
monosomy of any chromosomes such as Turner's makes survival unlikely unless there is
some mosaicism. The other trisomies also create a less stable fetal environement.

8-Which of the following if present would lead you to suspect a newborn child
has Down's syndrome:
(Please select 1 option)

Hypertelorism
Large, protruding tongue
Aggressive behaviour
Epileptic seizures
Hypotonia

Correct

Hypertelorism is not a feature. A large protruding tongue is a feature of cretinism.

Aggressive behaviour is uncommon. Epilepsy is not a feature, but hypotonia
occurs commonly.

9-A male child weighing 4.2kg is admitted at age 4 weeks with a one week
history of forceful vomiting after feeds.
He is alert and eager for food but exhibits a loss of skin elasticity and has
apparent distension in the left hypochondrium. Which of the following statements
is correct for this patient?
(Please select 1 option)

The most likely diagnosis is hiatus hernia

He has hyperosmolar dehydration.
Metabolic acidosis would be anticipated.
Initial fluid replacement should comprise normal saline 10-20 ml/kg in one hour
Correct

He should be started on an anticholinergic drug, e.g. Atropine

Methylnitrate (Eumydrin), before feeds
The most likely diagnosis is pyloric stenosis, which is more common in males (4:1
M:F ratio)and characteristically presents 3-6 weeks after birth. This situation will
cause a proportionate loss of fluid and electrolytes.
Characteristically he will have hypokalaemic, hypochloraemic metabolic alkalosis.
Initial resuscitation should be with normal saline, at twice the maintenance
volume. This will ensure he is volume replete and prevent secondary activation of
the renin/aldosterone system, which would cause more alkalosis and
hypokalaemia. Once volume replete, the fluid can be changed to half strength
saline with added potassium.
Although there are a few emerging reports showing satisfactory short term and
long term outcome with medical treatment, the preferred treatment is currently
pylorotomy. This should be performed after successful resuscitation and
electrolyte correction

10-A 17-year-old girl who had completed treatment for acute lymphoblastic
leukaemia six months previously, presents with a short history of marked, right
hip pain and associated limp.
What is the most likely diagnosis?
(Please select 1 option)

Avascular necrosis of the femoral head

Correct

Gout
Osteoarthritis
Pseudogout
Septic arthritis

Avascular necrosis of the femoral head can occur as a consequence of her

treatment or the disorder itself. At age 17, osteoarthritis is particularly unlikely.
Gout too is unlikely (considering she completed treatment six months ago) unless
she had relapsed (high white cell count) or had some other risk factors. She
would be considered to be no more likely to get septic arthritis or pseudogout
than anyone who had not previously had acute lymphoblastic leuaemia, if in
remission.

11-5 month old boy has had a mild coryza for 2 days. Mother hears him making
odd noises on the baby monitor. When she investigates she finds him floppy, pale
and not breathing. She stimulates him, attempts mouth-to-mouth resuscitation
and calls an ambulance. They give bag ventilation and he starts breathing again.
O2 is given on the way to hospital. Born at 32/40 gestation weighing 1.7kg he
required 3d ventilation for surfactant-deficient lung disease. Since discharge he
has been thriving.
On arrival at hospital he is self-ventilating in facemask oxygen, with saturations of
94%. Temperature is 37.8C, with RR 35/min, mild recession, and HR of 140/min.
Scattered coarse crepitations are audible in both lung fields.
What is the most likely diagnosis?
(Please select 1 option)

Acute life-threatening event

This is the correct answer

Cardiac dysrhythmias
Seizures
Gastro-oesophageal reflux

Incorrect answer selected

This child has RTI followed by acute life-threatening event (ALTE). There are a
large number of potential causes. In this case bronchiolitis is most likely, given
the examination findings.

12-Which of the following haematological disorders is inherited as an autosomal

recessive condition?
(Please select 1 option)

Antithrombin III deficiency

Protein C deficiency
Glucose-6-phosphate dehydrogenase deficiency
Pyruvate kinase deficiency

Correct

Acute intermittent porphyria

Anti-thrombin 3 (AT3) is a plasma inhibitor protein that blocks the enzymatic

activity of some serrin proteases coagulation factors. The activity of this inhibitor
in increased by heparin. AT3 is synthesised by the liver, is not Vitamin K
dependent, and can be consumed during DIC. Normal newborns have a reduced
activity. Congenital AT3 deficiency is an autosomal dominant. Treatment of
thrombotic in these events in these patients may be difficult.
Protein C is an inhibitor that once activated inhibits clot formation and enhances
fibrinolysis. It is liver synthesised and Vitamin K dependent. Protein C is
converted to an active enzyme by a thrombin-thrombomodulin complex on the
endothelial cell surface. Activated protein C inhibits a plasminogen activator
inhibitor, which results in enhanced fibrinlysis, and, with protein S as a co-factor,
inhibits the clotting of the activated factors 5 and 8 by limited proteolosis.
Activated protein C thus controls the conversion of factor 10 to 10a and
prothrombin to thrombin. Congenital deficiency is an autosomal dominant trait.
Acquired deficiency may occur in association with infection.
Glucose-6-phosphate dehydrogenase deficiency is the most important disease of
the pentose phosphate pathway, and is responsible 2 clinical syndromes: an
episodic haemolytic anaemia induced by infections or certain drugs, and a
spontaneous chronic non-spherocytic haemolytic anaemia. The deficiency is Xlinked, and heterozygous females are resistant to falciparum infections. There are
a large number of abnormal alleles causing disease of vastly different severity.
Pyruvate kinase deficiency is a rare congenital haemolytic anaemia inherited as
an autosomal recessive. Generation of ATP within the red cell is impaired resulting
in an abnormally high concentration of 2,3,DPG in the red cell, which inhibits the
enzymes of the pentose phosphate pathway. Clinical manifestations vary from
severe neonatal haemolysis, to a mild well compensated haemolysis first noted in
adulthood.
Acute intermittent porphyria is an autosomal dominant disorder resulting from
partial porphobilinogen deaminase deficiency in the cytosol of all tissues including
erythrocytes. Clinical expression of the disease is linked to environmental or

acquired factors such as nutritional status, drugs, steroid or chemicals. The major
abnormality is of the peripheral, autonomic or CNS. Major symptoms are
abdominal pain, nausea, vomiting, constipation or diarrhoea. In severe cases the
urine develops a port wine colour due to the high content of porphobilin, an autooxidation product of PBG. Hypertension and neuropathy are common, with muscle
weakness, cranial nerve abnormality and seizures.
Copyright 2002 Dr Colin Melville

13-A 7-year-old girl presents with ankle and knee pain and skin rash. She has
been well apart from a cold 2 weeks previously. Full term normal delivery, no
neonatal problems. Immunisations up to date. No family or social history of note.
On examination she looks well. The temperature is 37.8C, with respiratory rate
15/min, pulse 80/min and blood pressure 100/70 mmHg. She has a scanty nonblanching rash over the shins. Her abdomen is soft and non-tender. There is
swelling, redness, tenderness and decreased movement of the right knee and left
ankle.
What is the most likely diagnosis?
(Please select 1 option)

Acute leukaemia
Chronic meningococcaemia
Henoch-Schonlein purpura

Correct

Rheumatic fever
Von Willibrand's disease
The history of preceding throat infection, joint pain and characteristic rash in a well child
point to Henoch-Schoenlein purpura as the diagnosis. Urine dipstix testing should be done
to look for renal involvement. Some patients can have abdominal pain, vomiting or blood
PR because of GI involvement.

36253

14-Which one of the following statements concerning T-lymphocytes is correct?

(Please select 1 option)

Are the primary host response in bacterial infection

Compose the majority of lymphocytes in plasma

Correct

Are infected by Epstein-Barr virus in infectious mononucleosis

produce IgG
T cell lymphoma has a better prognosis than B cell lymphoma
The primary host response to bacterial infections is dependent on mononuclear phagocytes
and neutrophils. T-lymphocytes are involved in cell-mediated acquired immune responses,
whereas B-lymphocytes are involved in humoral immunity and produce immunoglobulins. T
lymphocytes compose the majority of circulating lymphocytes in plasma. Epstein-Barr virus
infects B-lymphocytes and squamous epithelial cells of the oropharynx. The virus can
transform B cells and epithelial cells to produce Burkitt's lymphoma, a subset of Hodgkin's
lymphoma, nasopharyngeal carcinoma and oral hairy leukoplakia. T cell lymphoma makes
up about 10-20% of non-Hodgkin's lymphomas and has a worse prognosis than B cell
lymphoma.

15-A 16-year-old female develops an urticarial reaction and is suspected of

peanut allergy yet measurement of peanut-specific IgE antibodies on RAST
testing is within the normal range. Which of the following would be the next most
appropriate investigation?
(Please select 1 option)

C1 esterase concentrations
No other test necessary diagnosis can be secured on history
Food provocation testing
Mast cell degranulation testing
Skin prick testing

Correct

The most appropriate next test would be skin allergen testing as a food
provocation test is often unnecessary and can prove rather dangerous although is
the gold standard.

16-A 41/40 girl is born weighing 1.9kg with apgars of 8 at 1 minute and 9 at 10
minutes. Pregnancy was complicated by maternal hypertension and proteinuria.
Antenatal ultrasound showed absent end diastolic flow in the umbilical artery. The
placenta was small and gritty, with a spindly umbilical cord. No family or social
history of note.
On examination the temperature is 36.2C, with no specific abnormalities to find.
Birth weight is well below the 3% and OFC on the 10%. There are no dysmorphic
features and she is self-ventilating in air.
What is the complication is most likely to occur?
(Please select 1 option)

Hypocalcaemia

Hypoglycaemia

Correct

Necrotising enterocolitis
Sepsis
Surfactant-deficient lung disease
The history is of late pregnancy placental insufficiency causing growth retardation of the
infant, with relative head sparing. In this case maternal pregnancy induced hypertension is
the root cause. IUGR infants are at increased risk of intrauterine death, birth asphyxia,
hypoglycaemia, necrotising enterocolitis, polycythaemia, dysmorphic syndromes.

17-In which one of the following conditions would bone age be equal to the
chronological age?
(Please select 1 option)

Constitutional delay of growth and puberty

Familial Short stature

Correct

Growth hormone deficiency

Hypothyroidism
Precocious puberty

Bone age is delayed in hypothyroidism. In constitutional delay of growth and

puberty all aspects of physiological maturation are delayed, including secondary
sexual characteristics and bone age.
Growth hormone deficiency will cause delayed skeletal maturation. Precocious
puberty will cause advanced bone age. In familial short stature, bone age is equal
to chronological age, but linear growth is poor and the child is short.

18-A 3 week old girl on the neonatal unit is noted to have a fever and
decreased spontaneous movement. She was born at 26/40 gestation weighing
1.02kg. After a stormy course she has returned from the neonatal intensive care
for convalescence. She is unimmunised. There is no family and social history of
note.
She has multiple venepuncture sites, and has redness over a site over the dorsum
of the right foot and over the shin, which is swollen. She cries when this area is
touched. She has a fever of 37.6&degC, and lies still in her cot. Respiratory rate is
30/min, heart rate 100/min. She is well perfused.
What is the most likely diagnosis?

(Please select 1 option)

Cellulitis
Osteomyelitis

Correct

Osteosarcoma
Sarcoidosis
Septic Arthritis

The history is of low grade fever with pseudoparalysis of the right leg and tibial
inflammation. This suggests an osteomyelitis in the right tibia complicating a
previous infected drip site in the foot. USS, X-ray, bone scan and blood cultures
should be performed and IV antibiotics given to cover Staphylococcus aureus,
Group B Streptococcus and gram negative organisms.

19-A 9 month old boy presents with a 24 history of fever and poor feeding. He
has become less responsive and has developed a purple rash over his arms and
trunk. 40+2/40, 3.03kg, no neonatal problems. No drugs. Fully immunised. No
FH or social history of note.
On examination temperature is 38.2C, RR 50/min (mild recession, HR 150/min.
Cool peripheries, with capillary refill time of 4 seconds. Non-blanching purple
spots 3-27mm over the arms and trunk.
What is the most likely diagnosis?
(Please select 1 option)

Streptococcal infection

Correct

Thrombocytopaenia
Trauma/ child abuse
Vasculitis eg HSP
Viral infection

The history is brief, with a sick, shocked child with purpura. The diagnosis is
purpura fulminans, probably due to septicaemia. The 3 commonest organisms
which cause this are meningococcus (esp. B, A and C), pneumococcus and
Haemophilus influenzae (esp. B). The incidence of Meningitis C and Hib have
declined dramatically since the introduction of routine immunisations.

20-Genetic anticipation occurs characteristically in all the conditions except

(Please select 1 option)

myotonia dystrophica
spinocerebellar ataxia type 1
Marfan's syndrome

Correct

Huntingdon's disease
Fragile X syndrome
Anticipation means increased severity/earlier age of onset of disease with successive
generations. Other conditions with anticipation include spinocerebellar ataxia type 1 and
dentatorubral pallidoluysian atrophy.

21-A term female infant weighing 3.2kg develops jaundice gradually from the
first day of life.The jaundice is unconjugated , is 75 mcg/l at birth (NR 0-18),
rising to 290 on day 3 and settling with phototherapy.
Investigations reveal:
Haemoglobin

14.0 g/dl

Reticulocytes

5%

Blood film shows

polychromasia, nucleated red cells and microspherocytes

Direct Coomb's test

weakly positive

Baby is

Apositive

mother

O negative

What is the most likely diagnosis?

(Please select 1 option)

ABO incompatibility

Correct

Crigler-Najjar syndrome
Group B streptococcal infection
Hereditary spherocytosis
Rhesus disease
This baby has early unconjugated jaundice, suggesting haemolysis. The time course,
weakly +ve Coomb's test and blood group findings suggest ABO incompatibility. This is
confirmed by testing specifically for isohaemagglutinins, which are +ve. Rhesus disease is
much less common these days because of maternal screening and anti-D.

22-A 4-year-old boy presents with dizziness and vomiting. He has been unwell
over the past few days with fever, right ear pain and discharge. Full term normal
delivery with no neonatal complications. Immunisations up to date. There is no
FH/SH of note.
On examination he has a fever of 38.6C, RR 20/min and HR 100/min. Chest is
clear. He has a purulent discharge from his right ear. He has nystagmus, and
walks with a broad-based gait.
What is the most likely diagnosis?
(Please select 1 option)

Acoustic neuroma
Alcohol ingestion
Brain abscess
Encephalitis
Vestibulitis

Correct

The history suggests an acute otitis media with developing ataxia and vomiting. This
suggests extension of the infection into the vestibular apparatus. From there it can extend
into the brain. IV antibiotics and surgical drainage may be required.

23-Restriction enzymes:
(Please select 1 option)

Cut DNA

This is the correct answer

Join two pieces of DNA together

Synthesize DNA
Degrade DNA

Incorrect answer selected

Are involved in cell cycle arrest

Restriction enzymes cut DNA at sequences specific for each restriction enzyme, they are
vital tools for molecular biology and molecular genetic research.

24-A 37/40 infant is born weighing 1.7kg with apgars of 8 at 1 minute and 9 at
five minutes. Pregnancy was complicated by poor weight gain in mother. Mother
is a healthy Caucasian, rubella immune and VDRL negative. No family or social
history of note.
On examination the temperature is 36.5C, and the child is self-ventilating in air
with saturations of 94%. Birth weight and OFC are both well below the 3%. The

child has a few 1-2mm purple spots over the trunk, and has 3cm of liver and 4cm
of spleen palpable.
What is the most likely organism?
(Please select 1 option)

Cytomegalovirus

Correct

Herpes simplex
Rubella
Toxoplasma gondii
Treponema pallidum
The history is of symmetrical IUGR suggesting a process starting early in pregnancy. The
major 2 aetiologies to consider are intrinsic abnormalities (eg chromosomal or multiple
malformation syndrome) and congenital toxin or infection. The latter is suggested by the
petechiae and hepatosplenomegaly. CMV is the most likely cause.

25-A 14 month old African boy presents with cervical lymphadenopathy and
coryza. He has been unwell for the past 3 days. He was born at 38+4/40
weighing 2.95kg and there were no neonatal problems. He was breast fed. He has
had recurrent ear infections and gets frequent colds. Immunisations up to date.
Father died in Africa at 34 years of age with TB.
On examination the temperature is 38.4C, with respiratory rate 35/min and
pulse 120/min. He is miserable and coryzal. He has marked rubbery enlargement
of cervical, axiallary and inguinal nodes. His chest reveals conducted secretions.
He has 3 cm liver and 4 cm spleen palpable, both being firm and smooth.
What is the most likely diagnosis?
(Please select 1 option)

HIV

Correct

Infectious mononucleosis
Kawasaki disease
Lymphoma
Mycobacterial adenitis
The history of frequent infections, generalised reticuloendothelial enlargement and high
risk of exposure make vertical HIV infection the most likely diagnosis. The chest X-ray in
such cases often reveals bilateral perihilar infiltration of Lymphocytic Interstitial
Pneumonitis (LIP). The diagnosis should be confirmed with virus-specific testing (RNA PCR
or culture) and co-trimoxizole prophylaxis started to prevent Pneumocystis infection.
Depending on the CD4 count and viral load antiretroviral combination therapy may be
needed.

26-Which of the following statements concerning Congenital adrenal hyperplasia due to 21

hydroxylase deficiency is correct:
(Please select 1 option)

It causes testicular enlargement

It results in delayed fusion of epiphyses
There is increased aldosterone secretion
It has an autosomal recessive inheritance

Correct

It is more easily diagnosed in boys than girls

The condition causes virilisation in the female (male secondary sexual characteristics e.g.
clitoromegaly, ambiguous genitalia) and in males sexual development may be entirely
normal or precocious puberty develops. Delayed epiphyseal fusion is not a feature.
Aldosterone deficiency causes salt wasting in this condition. The disease has an autosomal
recessive inheritance. The disease is far more easily diagnosed in females who develop
abnormal genitalia, than males who may have no clinical signs.

27-At birth a 37+3/40 infant is noted to have purple spots and is admitted to
the neonatal unit. Pregnancy had been complicated by a mild febrile illness at 9
weeks. Serial ultrasounds had shown growth retardation. Delivery was
uncomplicated, and Apgars were 8 at 1 minute and 9 at 5 minutes.
On examination the weight was 2.2kg and OFC 31cm. Temperature was 36.8C,
RR 40/min, HR 120/min. No murmur. O2 saturations were 94- 96% in air. There
were profuse non-blanching purple spots over the trunk and limbs. The liver was
4 cm and spleen 3 cm.
What is the most likely diagnosis?
(Please select 1 option)

Congenital syphilis
Congenital toxoplasmosis
Congenital herpes
Congenital rubella
Congenital cytomegalovirus infection

Correct

The history of maternal illness in pregnancy, and clinical features of IUGR,

microcephaly, purpura and hepatosplenomegaly strongly point to a congenital
infection. Although all the TORCH organisms (toxoplasma, other [syphilis,

hepatitis B, HIV], rubella, CMV, Herpes) can cause similar pictures, CMV is by far
the commonest in the developed world. Intracranial calcification, chorioretinitis,
deafness, heart disease are additional common features.

28-A 4-year-old boy develops purpura after an upper respiratory infection. The
platelet count is 20,000 per mm3 and bone marrow examination shows
megakaryocyte hyperplasia. Which one of the following statements concerning his
condition is correct?
(Please select 1 option)

His clotting time will be prolonged

Platelet antibodies are usually detectable
A spontaneous remission is likely

Correct

A transfusion of fresh platelets is indicated

Splenectomy should be undertaken within three months

The clotting time will be normal as the coagulation factors are not affected. Antiplatelet antibodies are difficult to detect in many assays. In acute temporary
thrombocytopenic purpura which often follows a viral infection, 85% of children
will recover in a year. Transfusion of platelets is not beneficial and not indicated
unless undertaking surgery or when there is active bleeding. The treatment is
usually immune suppression with drugs such as Prednisolone and or intravenous
infusions of immune globulin. Splenectomy is not indicated this early in the
disease as it may spontaneously remit within a year.

29-Which is true regarding cerebral palsy?

(Please select 1 option)

The incidence is 2 per 100 live births.

Visual impairement occurs in 50%.
Hearing loss is present in 5%.
Epilepsy is present in 40%.

Correct

Learning impairment is present in 30%.

Cerebral palsy is a disorder of movement and posture due to a non-progressive

lesion of the motor pathways in the developing brain. The clinical manifestations
tend to evolve with age. The incidence is 2 per 1000 live births, and other
problems are common and are reflecting more widespread damage to the brain.
These include:

Learning impairment in 60%.

Epilepsy in 40%.

Squints in 30%.

Hearing loss and visual impairment in 20%.

Speech and language disorders.

In addition, there may be considerable behavioural problems.

Copyright 2002 Dr Colin Melville

30-A 18-year-old male presents with a 6 week history of a painful swollen right
knee. He had been treated for a sexually transmitted disease 3 months ago. On
examination there was a large effusion in the right knee. Synovial fluid analysis
revealed a white cell count of 16 x109/L (4-11 x109) but culture was negative.
Which one of the following organisms is the most likely cause?
(Please select 1 option)

Chlamydia trachomatis
Herpes simplex
Neisseria gonorrhoea

Correct

Treponema pallidum
Trichomonas vaginalis

Bacteria are the most common cause of monoarthritis. Staphylococcus aureus

and gonococci are the most common causes of septic arthritis. Neisseria
gonorrhoea occurs in young adults and is often preceded by a migratory
tendonitis or arthritis. Gram's stain is positive in 25% and culture positive in
50%. This patient has been treated previously for a sexually acquired infection
and this maybe why the culture is negative.

31-An infant is admitted with diarrhoea and a diagnosis of Rotavirus is

suspected. Which one of the following is correct regarding Rotavirus infection?
(Please select 1 option)

It typically affects infants older than 18 months

The Rotazyme test to detect virus particles is a direct enzyme-linked
immunosorbent assay

Correct

Blood and mucus is found in the stools of about 50% of affected babies
It occurs most often in the summer months
Protection is not conferred by breast feeding

The peak incidence of Rota virus infection is 3-15 months. ELISA is performed on
the stool samples to detect virus particles. Watery diarrhoea is common and
blood and mucus is rare. Epidemics occur in the cooler months. Breast feeding
protects against Rota virus diarrhoea and other infections eg pneumonia.

32-Which of the following is correct concerning Type 1 Diabetes in children.

(Please select 1 option)

Insulin therapy should be given only when oral hypoglycaemic agents fail
There is a strong hereditary component
The onset of the disease is usually acute

Correct

Retinopathy is commonly seen upon diagnosis.

The adequacy of glycaemic control is most reliably assessed by twice daily
urinalysis
The disease often presents with ketoacidosis. The genetic associations in type 1 Diabetes
are less strong. For example the risk of Type 1 Diabetes developing in the child is 6.3% if
the father is affected and 1.3% if the mother is affected. Insulin therapy is given initially.
Microvascular complications do not usually appear till 5-10 years after the diagnosis.
Glycaemic control can be assessed by capillary glucose testing and measurement of
HbA1C.

33-A 4-year-old girl presents with extensive bruising over the trunk, legs and
palate. She had an URTI 4 weeks ago, but has otherwise been well. 39+5/40
3.8kg delivery, with no neonatal problems. No FH of note.
On examination she is well. Temperature is 36.7C (tympanic), HR 90/min, RR
20/min. Extensive fresh bruising of irregular shape over trunk, thighs and shins.
Old bruises over shin.
What is the most likely diagnosis?
(Please select 1 option)

Streptococcal infection
Thrombocytopaenia

Correct

Trauma/ child abuse

Vasculitis eg HSP
Viral infection

This girl had a presumed viral illness a month ago and now presents with sudden
onset of extensive bruising. The likely diagnosis is Idiopathic thrombocytopaenic
purpura. This can be confirmed by an FBC and film, which shows isolated
thrombocytopaenia. Most can be managed conservatively, with the platelet count
recovering spontaneously over 1-4 weeks. IVIG or steroids may accelerate
recovery. If steroid therapy is contemplated it should be preceded by a bone
marrow biopsy to exclude an thrombocytopaenic presentation of leukaemia.

34-A 2-year-old child presents with delayed language development. He was

born at term weighing 3.21kg and there were no neonatal problems. Gross motor,
vision and fine motor development are normal. Mother complains that he 'doesn't
listen' especially when he is in another room. His speech is restricted to single
words, and only mother understands them.
On examination he is apyrexial, RR 16/min, HR 90/min. No dysmorphic features.
Chest is clear, there is no murmur nor organomegaly. ENT examination reveals
normal tonsils, clear nose and bilaterally dull drums.
What is the most likely diagnosis?
(Please select 1 option)

Speech delay, isolated

Pervasive developmental disorder
Global developmental delay
Impaired hearing

Correct

Autism

The child has hearing impairment and isolated language delay. The examination
suggests bilateral 'glue ear' (Otitis media with effusion). This usually resolves with
time, though it may require tympanostomy tube insertion. These children often
need Speech Therapy input.

35-A 7 month old boy presents with a history of cough, fever and difficulty in
feeding for 3 days. He has become progressively more breathless. On admission
he has a fever to 38.9C and looks unwell. His respiratory rate is 65/min with
moderate recession. FBC showed a WCC of 25.7k, 82% neutrophils. The CRP was
145 mg/dl.
What is the most likely diagnosis?

(Please select 1 option)

Sinusitis
Allergic rhinitis
Pneumonia

Correct

Asthma
Croup

The picture is suggestive of a bacterial infection. The rapid respiratory rate

suggest a lower respiratory infection, with pneumonia the number one suspect.
Most bacterial cases are caused by pneumococcus and respond to penicillin.

36-A 6-year-old girl is referred by the school with poor attention during class.
Mother has also noted brief episodes of about 10-20 seconds when she seems to
be 'in a world of her own'. These have occured about 3-5 times a day for the past
2 months. She is otherwise well. Full term normal delivery with no neonatal
complications. Immunisations up to date. There is no FH/SH of note.
On examination she is apyrexial and well, well grown and there are no
abnormalities on detailed neurological examination.
What is the most likely diagnosis?
(Please select 1 option)

Complex partial
Generalised, atonic
Partial with secondary generalisation
Petit mal, atypical
Petit mal, typical

Correct

The history suggests absence seizures. This is a form of generalised epilepsy associated
with 3Hz spike and wave discharges, which may be brought on by hyperventilation. The
treatment is with sodium valproate. Carbamazepine worsens them.

37-Which one of the following is a recognised feature of abetalipoproteinaemia?

(Please select 1 option)

a high serum cholesterol

palmar xanthomas

advanced atherosclerotic vascular disease

abnormal red blood cell morphology
Severe mental retardation

This is the correct answer

Incorrect answer selected

Acanthocytes are seen in abetalipoproteinaemia.

Retinitis pigmentosa is seen in abetalipoproteinaemia. Neurodegenerative changes are
seen such as ataxia but IQ is normal.

38-A Plasmid is best described as

(Please select 1 option)

a recombinant section of DNA

a small viral particle
bacterial DNA separate from the chromosome

Correct

consist of multiple copies of a single gene

having multiple origins of replication
Plasmids are circular molecules of bacterial DNA separate from the bacterial chromosome.
They are usually small consisting of a few thousand base pairs, carry one or a few genes,
and have a single origin of replication. Genes on plasmids with multiple copies are usually
expressed at higher levels. In nature these genes often encode for proteins such as those
needed for bacterial resistance. Plasmids can be used to clone genes by splicing a
particular gene into a plasmid and then allowing the bascteria to multiply - this is then
called recombinant plasmid DNA.

39-Two strains of Escherichia coli are isolated and both are resistant to ampicillin. Strain A
retains its resistance to amplicillin when grown form multiple generations in the absence of
ampicillin. However strain B loses its resistance when grown in the absence of ampicillin. Which
of the following best explains the loss of antibiotic resistance in strain B?
(Please select 1 option)

Changes in the bacterial DNA gyrase

Downregulation of the resistance gene
Loss of a plasmid containing the resistance gene

Correct

Mutations in the resistance gene

Transposition of another sequence into the resistance gene
Bacteria develop resistance to antibiotics by gaining genes that encode for particular
proteins that offer protection to the organism. Sometimes this is by mutation and other

times the gene may be acquired from another bacterial species. The genes are usually
found in plasmids - circular segments of DNA separate from the bacterial chromosome.
Plasmids can easily spread from one bacteria to another - a sort of resistance package that
bacteria can share.

40-A 17-year-old girl presents with a two week history of urticaria. Over the last
couple of days she has been aware of new lesions occurring on a daily basis.
Which one of the following statements is most likely to be correct?
(Please select 1 option)

She is likely to have taken penicillin recently

She is likely to have an associated asthma
She is unlikely to have any identifiable trigger factor
There is likely to be a nut allergy

This is the correct answer

Incorrect answer selected

The lesions will be present for at least 24 hours

The commonest form of urticaria is idiopathic and there is no identifiable trigger. Peanut
allergy and penicillin may cause urticarial rashes but there is usually an associated specific
history of contact with the allergen. Urticarial lesions last less than 24 hours usually.

41-A 3-year-old girl presents with non-indentable abdominal mass, discovered

incidentally by mother at bathtime. She has otherwise been well, apart from
occasional abdominal discomfort.
On examination she looks well. She has a 10cm mass in the left flank, which is
firm and minimally tender. Her blood pressure is 100/70.
What is the most likely diagnosis?
(Please select 1 option)

Constipation
Duplex ureter
Nephroblastoma

Correct

Phaeochromocytoma
Volvulus
The history is highly suggestive of Wilm's tumour. This usually presents with painless
abdominal mass not extending across the midline. Bilateral cases are well described. In
neuroblastoma, patients tend to be less well and the mass may extend across the midline.

42-A 15 month old girl presents with stridor and respiratory distress. She has
had a crusty nasal discharge for 2 days with low grade fever. She went to bed as
usual at 8pm, but awoke 2 hours later. Previous history was unremarkable.
On examination she has a fever of 37.8C (tympanic), RR of 55/min (crying), and
HR of 150/min. She has marked stridor with moderate recession and a barking
cough. O2 saturations are 95% in air.
What is the most likely diagnosis?
(Please select 1 option)

Retropharyngeal abscess
Foreign body aspiration
Anaphylaxis
Croup

Correct

Peritonsillar abscess

The history suggests a viral croup (laryngotracheobronchitis). Oral

dexamethasone or inhaled budesonide are effective in reducing symptoms, but
are not required in mild cases. Reassurance of the mother often calms down both
child and mother.

43-A 3-year-old boy is referred because of an abdominal mass. He otherwise is

well apart from sluggish bowel movements and sleep disturbance, which is
causing stress in the family. He was a full term normal delivery weighing 3.4kg.
He had gastroenteritis at 13 months of age.
On examination he is on the 75th centile for height and the 90th for weight. He
has tympanic abdominal distension with no organomegaly. He has large nontender irregular indentable masses in the left iliac fossa and suprapubic region.
What is the most likely diagnosis?
(Please select 1 option)

Inborn errors of metabolism

Constipation/encopresis

Correct

Pregnancy
Malignancy eg Neuroblastoma, Wilm's, Lymphoma
Renal anomalies

The history suggests chronic idiopathic constipation. Often this begins following
gastroenteritis, when poor fluid intake results in hard stools. When these are
passed they can tear the delicate anal mucosa, causing a fissure. There is then

voluntary stool retention, completing the vicious circle. As in this case,

psychological stresses are common.

44-Which is true regarding iron deficiency anaemia?

(Please select 1 option)

The commonest cause in adolescents is chronic blood loss.

It does not affect school progress.
It commonly co-exists with thalassaemia.
Cow's milk is a major source of iron for children.
Lead poisoning is commonly associated with iron deficiency.

Correct

Iron is absorbed in the proximal small intestine, mediated partly by the duodenal
protein mobilferrin. About 10% of dietary iron is absorbed, and iron is absorbed
2-3 times more efficiently from human milk than from modified cow's milk.
During the first years of life, because relatively small quantities of iron-rich foods
are taken, it is often difficult to attain sufficiency iron. The diet should include
foods such as infant cereals or formulae that have been fortified with iron. Breast
fed infants should receive iron supplements from 4 months of age. At best, the
infant is in a precarious situation with respect to iron. Should the diet become
inadequate, or external blood loss occur, anaemia ensues rapidly. In children with
microcytic anaemia who fail to respond to iron, thalassaemia should be
considered.
In this country there is an increased incidence in those from the Mediterranean
and those from the Indian sub-continent. Because many such children are socioeconomically disadvantaged, there may be an associated iron deficiency anaemia.
Lead poisoning in this country is usually associated with eating lead paint. Since
pica is associated with iron deficiency, the two often co-exist.
Copyright 2002 Dr Colin Melville

45-A 4 month old boy presents with divergent squint. Mother is concerned
about his vision. He was born prematurely at 32/40 weighing 1.7kg, but had a
smooth neonatal course. Immunisations up to date. There is no FH/SH of note.
On examination he looks well and thriving. He has a marked convergent squint,
which varies. His eyes cross more when fixing on you.
What is the most likely diagnosis?
(Please select 1 option)

Congenital cataract
Glaucoma
Hypermetropia

Correct

Myopia
Retinopathy of prematurity
This child requires urgent evaluation by an ophthalmologist to exclude a refractive error,
most likely hypermetropia (hyperopia). The cross-eyed look worsens with accommodation,
as the child attempts to correct the refractive error. Failure to correct this quickly can
result in amblyopia (suppression of the image in one eye), with permanent damage.

46-A 3-year-old by presents with a 2 day history of coryza and cough,

particularly at night. On examination he has Harrison's sulci and is on the 3rd
centile for weight and height. Chest auscultation reveals scattered wheeze.
What is the most likely diagnosis?
(Please select 1 option)

Gastroesophageal reflux
Allergic rhinitis
Sinusitis
Asthma

Correct

Croup

The examination findings suggest chronic undertreated asthma. If he does not

respond rapidly to asthma therapy a sweat test may be indicated to exclude
'Cystic fibrosis'. It is likely that he will respond to regular inhaled low-dose
steroids.

47-A 4 month old boy presents with fever and poor feeding over the past 12
hours. He was completely well the previous day. He was born at 36.4/40 weighing
2.69kg and there were no neonatal problems. He has received 2 lots of primary
immunisations and had been gaining weight well. There is no FH/SH of note.
On examination:
Temperature

38.9C

Respiratory rate

40/min

Heart rate

140/min

He responds sluggishly to voice, he has warm peripheries and a capillary refill

time of 1 second. His fontanelle is full but no neck stiffness is present. There is no
rash.
What is the most likely diagnosis?
(Please select 1 option)

Herpes encephalitis
Meningitis

Incorrect answer selected

This is the correct answer

Pneumococcal bacteraemia
Reye syndrome
Shaken baby syndrome

The history is brief, and the major symptoms are fever and unresponsiveness
with a full fontanelle. Meningitis should definitely be excluded with a full septic
screen. In this age group neck stiffness is unusual even in confirmed meningitis.
An LP should also be performed, but this can be delayed for 1-2 days in view of
the reduced conscious level. The cell count is unlikely to change during this
period, and non-culture techniques (eg PCR) are increasingly available to make a
specific diagnosis. The common organisms at this age are meningococcus,
pneumococcus, and H. influenzae.

48-In which of the following chromosome disorders is the extra chromosome contributed in
nearly equal proportions by the mother and the father?
(Please select 1 option)

47, XXY

Correct

trisomy 21
trisomy 13
trisomy 18
47, XYY
In Klinefelter's the extra X chromosome is derived maternally in about 60% of the cases
which is closer than the other possibilities. 95% of trisomy 21 cases are maternally
derived. trisomy 13, 18 is a lot more commonly derived from the mother. With 47,XYY the
extra chromosome comes from the father.

49-An 18/12 boy presents with fever and redness and swelling of the left eye,
worsening over the past 2days. He has previously been well. Full term normal

delivery with no neonatal complications. Immunisations up to date. There is no

FH/SH of note.
On examination his temperature is 38.2C, respiratory rate 25/min and heart
rate100/min. Well perfused. His left eye is virtually closed by painful red swelling.
There is yellow crusting of the lid margin. On soaking the eyelids open there is
proptosis and painful movement of the eyes.
What is the most likely diagnosis?
(Please select 1 option)

Cavernous sinus thrombosis

Grave's disease
Neuroblastoma
Orbital cellulitis, postseptal
Orbital cellulitis, preseptal

This is the correct answer

Incorrect answer selected

The picture is of sepsis of the left eye with involvement of the eyeball. This is true orbital
cellulitis, rather than the commoner preseptal cellulitis. The latter is anterior to the fibrous
septum running through the eyelid and does not involve the orbital structures. Both are
caused by Staphylococcus aureus, Group A strep, pneumococcus and H.influenzae. The
former is much more serious, as there may be proximal extension causing sinusitis or
meningitis. Both require IV antibiotics, orbital cellulitis for 14d and preseptal for 5d IV +
5d PO. H. influenzae is less common since Hib vaccination, and is regarded as a true
vaccine failure if it occurs in an immunised child.

50-An 8 month old child presents with spots on the legs. He is well and feeding
well. 39+6/40 3.5kg, no neonatal problems. No drugs nor medications, fully
immunised. No FH/SH of note.
On examination temperature 37.8C (tympanic), RR 30/min, HR 110/min. Well
perfused, capillary refill time of 1 second. 20- 30 1-2mm non-blanching purpuric
spots over the shins.
What is the most likely diagnosis?
(Please select 1 option)

Streptococcal infection
Thrombocytopaenia
Trauma/ child abuse
Vasculitis eg HSP

Viral infection

Correct

This child is well, and presents with purpuric spots and a low-grade fever.
Although about 20% of such children have serious bacterial infection and 7-10%
have meningitis/ septicaemia, this still leaves 70% who have some sort of viral
infection. A large number of viruses (e.g. Varicella and EBV) can present in this
way, although in clinical practice the specific cause is rarely found.