1-Malabsorption syndromes with a primary mucosal abnormality include:

True / False

pancreatic insufficiency
Crohn's disease

Incorrect answer selected

abetalipoproteinaemia
blind-loop syndrome
coeliac disease

Correct

Correct
Correct

Correct

Malabsorption due to pancreatic insufficiency is due to inadequate digestion

and blind loop syndromes cause abnormal bacterial proliferation with
impaired micelle for

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2-A 2-week-old male child is brought to the Emergency Department by his

concerned parents with diarrhoea and vomiting. He is the first child of a
young couple.
Examination reveals few features besides obvious dehydration. He is noted to
have a penile length of 3.5 cm.
His electrolytes show:
Serum sodium

123 mmol/l

(137-144)

Serum potassium 6.4 mmol/l

(3.5-4.9)

Urea

9.1 mmol/l

(2.5-7.5)

Creatinine

65 mol/l

(60-110)

Which of the following is the most appropriate initial treatment for this
patient?
(Please select 1 option)

Cows' milk allergy is the most likely diagnosis

Gluten enteropathy should be excluded

Requires urgent treatment with IV normal saline

Correct

Requires urgent treatment with oral steroids

Rotavirus gastroenteritis is the most likely diagnosis

The history suggests a diagnosis of classical congenital adrenal hyperplasia

which is commonly due to 21 hydroxylase deficiency.
A variable presentation is typical but neonatal presentations include salt
losing crisis, penile development in the male, virilisation and ambiguous
genitalia in females.
Patients should initially be resuscitated with fluid, usually saline and if
suspicious, urgent biochemistry requested for cortisol, 17OHP, etc., prior to
administration of intravenous steroids.

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3-A genotypic male (XY) infant is born with feminised external genitalia.
The testes are retained within the abdomen and the internal reproductive
tracts show a normal male phenotype.
Which of the following abnormalities would account for this abnormal
development?
(Please select 1 option)

Complete androgen insensitivity

5 alpha-reductase deficiency

Correct

17 alpha-hydroxylase deficiency
Sertoli-cell-only syndrome
Testicular dysgenesis

The differentiation of the Wolffian ducts into normal male internal

reproductive tract requires testosterone but not dihydrotestosterone (DHT).
However, the differentiation of the external genitalia into the male
reproductive system does require DHT.
Absence of 5-alpha-reductase in the latter will result in feminisation.

Untreated patients are phenotypically female and often present at puberty

with virilisation a consequence of testosterone surges.
Treatment depends upon DHT therapy.
Further reading:
Physical Diagnosis and Treatment of the Infant with Genital Ambiguity
OhioLINK Digital Media Center

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4-Theme:Gastro-intestinal disorders in neonates

A Ano-rectal atresia
B Hirschsprung's disease

Infantile hypertrophic pyloric

stenosis

D Intestinal atresia
E

Intussusception

Meconium ileus

G Necrotising enterocolitis
H Tracheo-oesophageal fistula
I

Volvulus neonatorum

Select the most appropriate diagnosis from the list above that would explain
the presentation of the following neonates.
A newborn baby girl presents with gross abdominal distension and bilious vomiting. She also has
cystic fibrosis and her abdominal x ray shows distended coils of bowel, but no fluid levels.

Correct

One in 15,000 newborns will have a distal small bowel obstruction secondary
to abnormal bulky and viscid meconium. Ninety percent of these infants will

have cystic fibrosis and the abnormal meconium is the result of deficient
intestinal secretions.
This condition presents during the first days of life with gross abdominal
distension and bilious vomiting. x Ray of the abdomen shows distended coils
of bowel and typical mottled ground glass appearance. Fluid levels are scarce
as the meconium is viscid.

A premature infant (31 week gestation) presents with distended and tense abdomen. She is passing
blood and mucus per rectum, and she is also manifesting signs of sepsis.

Correct

Necrotising enterocolitis is more common in premature infants. Mesenteric

ischaemia causes bacterial invasion of the mucosa leading to sepsis.
Terminal ileum, caecum and the distal colon are commonly affected. The
abdomen is distended and tense, and the infant passes blood and mucus per
rectum. x Ray of the abdomen shows distended loops of intestine and gas
bubbles may be seen in the bowel wall.

A newborn baby boy presents with mild abdominal distension and failure to pass meconium after 24
hours. x Ray reveals dilated loops of bowel with fluid levels. The anus appears normally located.

Correct

Hirschsprung's disease is an absence of ganglion cells in the neural plexus of

the intestinal wall. It is more common in boys than girls. The delayed
passage of meconium together with distension of abdomen is the usual
clinical presentation.
A plain abdominal x ray will demonstrate dilated loops of bowel with fluid
levels, and a barium enema can be helpful when it demonstrates a cone with
dilated ganglionic proximal colon and the distal aganglionic bowel failing to
distend.

________________________________________________________________________
_

5-Theme:Breathlessness
A Asthma
B Hyperventilation
C

Tuberculosis

D Cystic fibrosis
E

Pneumocystis carinii
Ventricular septal
defect
Gastroesophageal
reflux

H Atrial septal defect

I

Bronchiolitis

Mitral stenosis

For each of these patients with breathlessness, select the most likely
diagnosis.
A 13-year-old girl has intermittent episodes of breathlessness which tend to occur in crowded shops.
She feels the need to take deep breaths and then breathes very quickly, complaining of pins and
needles around her mouth and in her hands. Her chest is clear and her blood gases show a normal
pO2 and low pCO2.

Correct

This description is one of anxiety. The blood gas picture is one of

hyperventilation.

A 3-year-old boy presents with worsening cough and breathlessness of three weeks' duration. His
mother was an intravenous drug abuser. He has always been prone to infections. When he was two
years old he had chicken pox for four weeks.
On examination, he has an emaciated appearance, his weight is below the 0.4 th centile. He has a
temperature of 37.6C and he has generalised crepitations on auscultation of his chest. A blood
count shows severe lymphopaenia.

Correct

This has resulted from congenitally acquired HIV. PCP has an insidious onset
and often there are no chest signs in children. Lymphopaenia is consistent.
Treatment is with septrin or nebulised pentamidine as second line.

A 4-month-old baby has not gained much weight since birth and only takes small milk feeds, as he
appears to become breathless on feeding. He is tachypnoeic, sweaty and has a tachycardia. His liver
is enlarged and he has a harsh grade 2 pansystolic murmur at the left lower sternal edge.

Correct

Poor feeding is a symptom of heart failure in babies. A VSD has a pansystolic

murmur and, if large, may have a lower grade as there is less resistance to
flow. Hepatomegaly is an early sign of heart failure in infants.

________________________________________________________________________

6-Theme:Nephrology
A Acute nephritis
B Nephrotic syndrome
C

Diabetes insipidus

D Urinary tract infection

Chronic renal failure

Diabetes mellitus

G Salt poisoning

Haemolytic uraemic
syndrome

Bartter syndrome

Cystinosis

Which diagnosis is most appropriate for the following patients?

A 4-year-old girl was admitted to hospital with a 10 day history of progressive shortness of breath
and puffiness of the face.
Clinical examination revealed a raised jugular venous pressure (JVP), pulse rate of 160/min, normal
heart sounds, hepatomegaly 2 cm and bilateral basal lung crepitations. She was seen by her family
doctor for a sore throat two weeks previously.

Correct

The picture is one of fluid overload and with a preceding upper respiratory
tract infection (URTI) making post-streptococcal glomerulonephritis the most
likely diagnosis. There is often macroscopic haematuria and hypertension.

A 4-month-old baby boy is admitted because of inconsolable crying. He had been thriving otherwise
and was well previously. He seems settled during assessment, feeds well and is afebrile. Urinalysis
reveals white cells 45/hpf, red cells 10/hpf, organisms >100,000/ml.

Correct

UTI should be ruled out in fractious pyrexial infants as the symptoms are
non-specific. It is important to document whether there has been previous
recent antibiotic usage and, where possible, a clean catch urine sample
should be taken prior to starting antibiotics in this age group. Pyuria alone is
not sufficient to make the diagnosis of UTI.

A 9-year-old girl has chronic renal failure of unknown aetiology. She has blond hair and blue eyes
and has developed hypothyroidism. She also has cataracts that are worsening over the last two
years.

Correct

This is a description of cystinosis which is confirmed by having high white cell

cystine levels. Deposits of cystine may occur in the thyroid and lenses.
Children typically have blond hair and blue eyes.

7-Theme:Rashes
A Staphylococcal scalded skin syndrome
B Rubella
C

Measles

D Kawasaki disease
E

Impetigo

Scarlatina

G Infectious mononucleosis
H Henoch-Schnlein purpura
I

Meningococcal infection
Stills disease (systemic onset juvenile chronic
arthritis)

Match the following descriptions of rash with the illness for which they are
the most typical exanthem.
A salmon-coloured, reticulate macular rash develops mainly over the extensor surfaces of the limbs
in a 5-year-old boy with swinging temperature; hot, swollen, painful knees and left elbow and
palpable spleen. The erythrocyte sedimentation rate (ESR) is 95. The blood count, C-reactive
protein and chest x ray are normal.

Correct

'Salmon-coloured' is the description used to describe the rash of Still's

disease. The distribution is not that of Henoch-Schnlein purpura (HSP)
which covers typically the buttocks and limbs and is a purpuric rash.

A 12-year-old boy develops petechiae and papules, some of which become purpuric over his
buttocks and legs, associated with painful swollen knees. There is microscopic haematuria on
testing. The platelet count is normal.

Correct

This is a description of HSP and the well recognised complication of HSP

nephritis. A proportion of these patients will develop progressive nephritis
and end stage renal failure.

A 5-day-old girl has a high temperature and is irritable. She has areas of desquamation over her
finger tips and in the axillae. Her carer notices that her skin blisters easily following minimal
contact.

Correct

SSSS results from infection with Staphylococci with the exofoliative toxin A
and B. These exotoxins cause disruption to the epidermal layer by interfering
with intercellular junctions. Mortality is up to 3% in children. The
desquamation occurs concomitantly with the illness unlike Kawasaki disease
and Kawasaki disease does not occur in this age group. There may be a
history of minimal skin trauma which provides a port of entry for the
organism.

________________________________________________________________________

8-A 12-year-old boy presents with pain above the left knee. He had suffered
a minor injury to this area three weeks before.
He had a full term normal delivery with no neonatal problems. His
immunisations are up to date. There is no family or social history of note.

On examination the temperature is 36.4C, respiratory rate 12/min and pulse

75/min. He has local swelling and mild tenderness on the medial aspect of
the left thigh.
What is the most likely diagnosis?
(Please select 1 option)

Dermatomyositis
Ewings sarcoma
Juvenile rheumatoid arthritis
Osteogenic sarcoma
Osteomyelitis

This is the correct answer

Incorrect answer selected

The history of minor injury followed by pain and swelling in the metaphysis of
a long bone is typical of a bone tumour. In this case the most likely is an
osteogenic sarcoma.
On x ray this typically shows sclerotic bone destruction.
Survival is 70% if no metastases are present at diagnosis, less than 20% if
present.

____________________________________________________________________

9-A 4-year-old girl presents with fever, pallor and jaundice. She has had a
cold two weeks previously. She has previously been well.
She had a full term normal delivery with no neonatal complications. Her
immunisations are up to date. There is no FH/SH of note.
On examination she has a fever to 37.9C, respiratory rate 18/min and heart
rate 95/min. She has pale conjunctivae and mildly jaundiced conjunctivae.
Chest and ENT examinations are normal. She has a 2/6 ejection systolic
murmur at the upper left sternal edge. The spleen is 3 cm, smooth and nontender. Urine dipstix contains 2+ blood. Urine microscopy shows 0 white
cells, 0 red cells and no organisms.
What is the most likely diagnosis?
(Please select 1 option)

Haemolytic anaemia, acquired

This is the correct answer

Haemolytic anaemia, congenital

Infectious mononucleosis

Incorrect answer selected

Malaria
Sickle cell anaemia

The picture of antecedent upper respiratory tract infection (URTI) followed by

fever, pallor, mild jaundice and haemaglobinuria all point to haemolysis
triggered by infection.
The likely diagnosis is an autoimmune haemolysis due to 'warm' antibodies.
The full blood count may show profound anaemia (for example, 6 g/dl) with
spherocytes and very high reticulocyte count.
Steroids are usually highly effective.
Autoimmune haemolysis associated with 'cold' antibodies may be triggered
by Mycoplasma and Epstein-Barr virus, with symptoms worsened by cold.

________________________________________________________________________

10-A 16-year-old girl presented with acute Guillain-Barr syndrome and has
developed worsening proximal muscle weakness.
Which one of the following tests should be used to monitor her respiratory
function?
(Please select 1 option)

Arterial blood gas

Chest expansion
FEV1/FVC ratio
Peak expiratory flow rate
Vital capacity

Correct

Diaphragmatic weakness occurs in one-third of patients with Guillain-Barr

syndrome and involvement of the neck muscles, tongue and palate leads to
further respiratory compromise.

Respiratory muscle function is best monitored by frequent assessment of the

vital capacity.
The other investigations are of limited use.

________________________________________________________________________

11-An 18-year-old male is diagnosed with Becker's muscular dystrophy.

Which of the following statements concerning the genetics of the condition is
correct?
(Please select 1 option)

His brothers will all be affected

His daughters sons will have a 50% chance of having the disease

Correct

His daughters will have a 50% chance of being carriers

His sons children will have a 50% chance of having the disease
His sons will be carriers of the condition

Becker's muscular dystrophy is an X linked condition and so 50% of males

will be affected in a family.
His sons will get the X chromosome from his wife and so will not be carriers
but all his daughters will be carriers.
However, his daughters' sons will consequently have a 50% chance of
inheriting the disease as all his daughters are carriers and there is a 1 in 2
chance (50:50) of passing the gene on to their sons.
On the other hand his sons who are not affected do not pass on the
condition.

___________________________________________________________________

12-Which of the following features would be expected in acute tubular

necrosis?
(Please select 1 option)

Creatinine clearance would be expected to be normal one year after the initial insult
Heavy proteinuria on urinalysis
Red cell casts on urinalysis
Urine plasma osmolality ratio is more than 1:1
Urinary sodium concentration greater than 30 mmol/l

Correct

Red cell casts suggest nephritis and normalisation of the creatinine clearance
occurs in only 40% of cases one year later.
Proteinuria, usually mild, is common with granular casts found on urinalysis.
The urine sodium concentration is typically above 30 mmol/l and osmolality
ratio less than 1:1.
Further reading:
Acute Tubular Necrosis eMedicine

_____________________________________________________________________

13-A 5-year-old girl presents with fever and inability to bear weight. She
had fallen from her bicycle four days before, and had had a fever for two
days. This morning she had been unable to move her left hip because of
severe pain.
She had a full term normal delivery with no neonatal complications. Her
immunisations are up to date. There was no FH/SH of note.
On examination temperature is 39.4C, respiratory rate 20/min and pulse
100/min. Well perfused and cooperative, though tearful when leg examined.
Left leg is held flexed and externally rotated.
What is the most likely diagnosis?
(Please select 1 option)

Juvenile arthritis
Osteomyelitis

Incorrect answer selected

Reactive arthritis
Rheumatic fever

Septic arthritis

This is the correct answer

The minor trauma, fever and exquisite joint pain suggest a septic arthritis.
The joint is held to minimise stretch on the joint capsule.
USS, x ray and bone scans are used to define the extent of disease. Blood
culture identifies an organism in 50%.
IV antibiotics should penetrate bone and cover Staph. aureus, Streptococci
and H. influenzae (for example, cefotaxime).

________________________________________________________________________

14-A 5-year-old boy presents with a three week history of polydipsia,

polyuria and weight loss. He now has breathing difficulty.
He had a full term normal delivery with no neonatal complications. His
immunisations are up to date. There is no FH/SH of note.
On examination he is apyrexial and unwell. Respiratory rate is 15/min with
deep sighing pattern. Heart rate is 150/min. He is cold to the elbows with a
capillary refill time of 4 seconds. Abdomen is soft. Urinalysis shows 4+
glucose and 3+ ketones. BM stix is 45 mmol/l.
What is the most likely diagnosis?
(Please select 1 option)

Diabetes insipidus, central

Diabetes insipidus, renal
Diabetic ketoacidosis

Correct

Hyperosmolar coma
Hypoglycaemic coma

The history of polydipsia, polyuria and weight loss suggest diabetes.

The respiratory pattern, BM stix and urinary results confirm ketoacidosis.
The treatment is fluid replacement to relieve shock, followed by insulin
infusion and replacement of fluid deficit over 36-48 hours.

Careful neurological observation and fluid and electrolyte monitoring is

required to avoid cerebral oedema, the commonest cause of death in such
patients.

____________________________________________________________________

15-A 7-year-old girl with known epilepsy presents with a history of

prolonged convulsion. She has had a cold for the past 2 days with mild fever.
This evening she began fitting 35 minutes ago and this has continued
unabated. Full term normal delivery with no neonatal complications.
Immunisations up to date. There is a family history of epilepsy in a first
cousin.
On examination she has a temperature of 38.6C, irregular breathing, and
pulse of 120/min. Oxygen saturations are 87% despite facemask Oxygen and
oropharyngeal airway. Her right ear drum is red and bulging.
What is the first-line treatment of choice?
(Please select 1 option)

Diazepam IV

Incorrect answer selected

Diazepam PR
Lorazepam IV

This is the correct answer

Paraldehyde PR
Phenytoin IV

The history is of prolonged continuous generalised seizure in a known

epileptic. This fulfils the definition of Status Epilepticus, which is >30 min
continuous convulsion or sequence of convulsions without return to
consciousness between them. A blood glucose should always be checked
(hypoglycaemia is easily treated, and prolonged hypoglycaemia may damage
the brain). IV lorazepam should be given if IV access is available (PR
diazepam only if no access), repeated after 10 mins if there is no response.
Paraldehyde, phenytoin and thiopentone infusion may all be needed if there
is no response.

_______________________________________________________________________

16-Hearing aids and cochlear implants are devices used by people with a
hearing loss. Which of the following statements regarding these devices is
NOT true?
(Please select 1 option)

A cochlear implant may be suitable for someone with a bilateral severe to profound
hearing loss.
For an aging adult hearing aid user with a progressive sensorineural hearing loss, there
may come a time when their hearing aids are no longer helpful and they become a
cochlear implant candidate.
Children as young as six months of age have received cochlear implants
Hearing aids and cochlear implants function in a similar way, and are essentially amplifiers
of sound

Correct

Hearing aids incorporate sophisticated computer technology to help filter out background
noise

A hearing aid consists of a microphone, an amplifier and an earphone. More

recent technology has enabled some manipulation of the input sound such as
filtering of background noise.The incoming sound is amplified and delivered
to the outer ear and hence the normal anatomical and physiological
mechanisms of hearing are relied upon.
Aids are helpful in providing higher levels of sound to people with a mild to
moderate loss, and in some cases of moderate to severe loss.
A cochlear implant is NOT an amplifier, or a powerful hearing aid. It
artificially recreates sound by providing direct electrical stimulation via
electrodes situated in the cochlear. The mechanisms of the outer and middle
ear are bypassed.
A speech processor (the external component) detects the sound via a
microphone, the useful sound is extracted and changed into a radiofrequency
signal which is transmitted through the skin. The internal portion detects this
signal and decodes it, providing stimulation to the appropriate electrode for a
given frequency of sound.
For severe-profoundly hearing impaired people, the cochlear implant provides
not only MORE sound but CLARITY of sound.
For these people, a hearing aid often only provides amplified noise and little
useful sound.
Many long-time hearing aid users with a progressive hearing loss, or whose
hearing suddenly worsens, go on to receive a cochlear implant and receive
great benefit.
Cochlear implants

_______________________________________________________________________

17-Which of the following is true regarding chromosomes?

(Please select 1 option)

Down's syndrome is most commonly due to an extra copy of chromosome 21 inherited

from the father.
A Fetus with triploidy will have 47 chromosomes
Heterochromatin is mostly composed of active genes
The normal human karyotype contains 22 pairs of autosomes

This is the correct answer

Telomeres provide the point of attachment to the mitotic spindle

Incorrect answer

selected

The human karyotype consists of 22 pairs of autosomes and 1 pair of sex

chromosomes. Down's syndrome is most commonly due to trisomy of C21 with the
majority a consequence of non-dysjunction within the ovum. Trisomy results in 47
chromosomes whereas Triploidy is the presence of 3 complete sets of chromosomes
instead of two in all cells. Heterochromatin is of little genetic significance containing
mostly inactivated genes. Telomeres are the distal extremities of the chromosomal
arms but the centromeres provide the point of attachment to the mitotic spindle.

________________________________________________________________________

18-A 17-year-old girl presents after having ingested fifty of her mother's
fluoxetine tablets, approximately five hours previously.
Which one of the following clinical features is compatible with this history?
(Please select 1 option)

Pupillary constriction
Heart rate of 60 beats per minute

This is the correct answer

QRS duration of 120 ms (<100)

Respiratory rate of six breaths per minute
Convulsions

Incorrect answer selected

Unlike the tricyclic antidepressants, fluoxetine, like many of the SSRIs are
safe in overdose, causing very few effects. Rarely, reports would suggest that
tachycardia can occur together with

tremor

drowsiness

nausea

vomiting.

Thus, this is a bit of a trick question as normal observations would be

expected and so, a heart rate of 60 beats per minute is compatible with the
patient having taken an overdose of prozac.
Pupillary constriction suggests opiates as does respiratory depression with
prolonged QRS with TCAs.

19-Possible means of diagnosis of congenital HIV infection in neonate born to an infected

mother is:
True / False

test for anti-p24 antibody in infant blood

Correct

attempt virus isolation from infant's peripheral blood leukocytes

test for delayed hypersensitivity reactions

Correct

attempt detection of viral genome by polymerase chain reactions

test infant's serum by Western Blot

Correct

Correct

Correct

As with all IgG antibodies, anti-HIV will cross the placenta and therefore all
infants of infected mothers will have HIV antibodies in the blood at birth. In
this situation therefore, anti-HIV antibody is not a reliable marker of active
infection, and i n uninfected babies it will gradually be lost over the first 18
months of life. However virus isolation itself from the infants blood is a
possible means of diagnosis, as is the detection of viral genome by PCR
techniques.
IgG antibody to the viral capsid p24 protein (anti-p24) can be detected in the
mother from the earliest weeks of infection and through the asymptomatic
phase. It is frequently lost as disease progresses and therefore will not be
detected in the child. A lthough not a means of diagnosis of congenital HIV
infection, recent studies have shown that cutaneous delayed-type
hypersensitivity skin testing response, a functional measure of cellular
immunity, is an independent predictor of progression to AIDS in persons with
HIV.

_______________________________________________________________________

20-At 26+4/40 a male infant is born weighing 790g by spontaneous

delivery to a healthy Caucasian mother. He is born in good condition, but
soon begins to grunt and 'blow bubbles'. He is taken through to the neonatal
unit, and his oxygen requirement steadily rises to 45% in a headbox. He is
then ventilated and UAC inserted. He requires 16/4, 55% Oxygen, inspiratory
time of 0.4s to maintain Oxygen saturations of 94%.
What is the most likely diagnosis?
(Please select 1 option)

Congenital diaphragmatic hernia

Congenital lobar emphysema
Congenital pneumonia
Surfactant-deficient lung disease

Correct

Transient tachypnoea of the newborn

The history of prematurity with progressive respiratory distress suggests surfactantdeficient lung disease. This is treated with ventilatory support and intra-tracheal
surfactant therapy. Antibiotics are usually given for 48 hours to cover the possibility
of infection, whilst culture results are awaited. Complications include: acute:
pneumothorax and pulmonary haemorrhage; chronic: chronic lung disease.

______________________________________________________________________

21-The following occur as a normal response to a major surgical operation:

True / False

Natriuresis

Correct

Hypocalcaemia

Correct

Decreased lipolysis

Incorrect answer selected

Increased peripheral glucose uptake

Potassium retention

Correct

Incorrect answer selected

The response of the patient to surgical stress should be seen as an attempt to

maintain a normal supply of oxygen and nutrients to the tissues of the body. Urine

output is often diminished post operatively due to hypovolaemia a reduction in renal

blood flow leading to resorption in sodium and water.

________________________________________________________________________

22-Cerebrospinal fluid normally:

True / False

Has a higher pH than plasma

Incorrect answer selected

Has a much higher osmolality than plasma

Correct

Contains the same concentration of protein as plasma

Has a higher bicarbonate content than plasma

Correct

Incorrect answer selected

Has a higher concentration of glucose than plasma

Correct

CSF has a ph of about 7.30, therefore lower than plasma with a slightly lower
bicarbonate. It has similar concentrations of electrolytes such as sodium, chloride,
and magnesium. It has approx two thirds the glucose concentration of plasma.

Reference article

______________________________________________________________________

23-At 32/40 gestation a 1.73kg female infant is born with apgars of 3 at 1

minute and 6 at 5 minutes by spontaneous vaginal delivery. Mother had a
pyrexia to 38.5C in labour, and membranes were ruptured for 36 hours prior
to delivery.
On examination the temperature is 38.1C. respiratory rate is 60/min,
moderate recession. He requires ventilation at 18/4, 50% Oxygen to
maintain Oxygen saturations at 92%. Heart rate is 150/min, poor peripheral
perfusion, which improves with 10 ml/kg of Normal saline. Chest X-ray shows
a bilateral ground glass appearance.
What is the most likely diagnosis?
(Please select 1 option)

Congenital diaphragmatic hernia

Congenital pneumonia

Correct

Meconium aspiration
Surfactant-deficient lung disease

Transient tachypnoea of the newborn

The history suggests immediate respiratory distress in a sick infant with several risk
factors for infection (preterm, maternal fever, PROM). Congenital pneumonia (eg
Group B streptococcal infection) is the most likely diagnosis. This is treated with
intensive support and antibiotics (eg Penicillin and gentamicin or cefotaxime).

________________________________________________________________________

24-Theme:Diagnosis of chromosomal disorders

A Di George anomaly
B Fragile X
C

Karyotype 45XO

D Karyotype 46XX
E

Karyotype 47XYY
Klinefelter
syndrome

G Triploidy
H Trisomy 9
I

Trisomy 18

Trisomy 21

For each of the following descriptions of clinical abnormalities choose the

single most likely genetic disorder from the list of options.
Gross fetal oedema, a cystic hygroma and ultrasound appearances of female fetus.

Correct

Turner's syndrome (45XO) affects females. Features include short stature

and gonadal agenesis. Ultrasound scan of the fetus in utero may confirm
lymphoedema. Other features include:

a webbed neck

a broad shield-like chest

wide spaced nipples

cubitus valgus.

Cardiac anomalies are common in Turner's syndrome, the most common

being a bicuspid aortic valve and coarctation of aorta. Renal anomalies such
as horse shoe kidneys are often seen.

A 13-year-old boy with learning difficulties, undescended testicles and gynaecomastia.

Correct

Klinefelter syndrome (XXY). Individuals with Klinefelter's usually have learning

difficulties. Phenotypically they are relatively tall and slim individuals with small penis
and testicles, gynaecomastia and infertility.

A cardiac abnormality in a child with immuno-deficiency and mild to moderate learning difficulties.

Correct

Di George syndrome, which is a defect of development of the thymus, parathyroid as

well as great vessels. They tend to have characteristic facies with short palpable
fissures, micrognathia and a short philtrum. They have reduced cellular immunity
and hypoparathyroidism leads to hypocalcaemia and seizures. Cardiac anomalies are
also common, e.g. aortic arch defects.

_____________________________________________________________________

25-Compared with bottle feeding, breast feeding is relatively protective

against:
True / False

Late haemorrhagic disease of the newborn

Maternal breast cancer
Late onset diabetes

Correct

Correct

Incorrect answer selected

Prolonged jaundice
Under-feeding

Incorrect answer selected

Correct

Breast fed infants have a reduced risk of infection, though the effect is less in
industrialised societies. The protective effect is increased for low birth weight
infants. There may also be improved cognitive and psychological
development, reduced risk of juvenile onset diabetes, and reduced risk of
maternal breast cancer. Disadvantages of breast feeding includes social
limitations, unrecognised under-feeding (rare), late haemorrhagic disease of
the newborn, and breast milk jaundice.
Copyright 2002 Dr Colin Melville

26-A 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-tomouth resuscitation and calls an ambulance. They give bag ventilation and
he starts breathing again. Oxygen is given on the way to hospital. Born at
32/40 gestation weighing 1.7kg he required 3d ventilation for surfactantdeficient 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)

Bronchiolitis

This is the correct answer

Cardiac dysrhythmia
Gastro-oesophageal reflux
Pertussis

Incorrect answer selected

Seizure

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.

27-Mycoplasma infection is associated with:

True / False

Erythema multiforme
Erythema nodosum
Myocarditis

Correct
Incorrect answer selected

Correct

Peripheral neuropathy

Correct

Severe prolonged headache

Incorrect answer selected

Mycoplasma usually begins with coryza and slow-onset pneumonia with

systemic upset. Symptoms are more impressive than signs.
It can precipitate asthma.
Autoimmune complications include

skin

CNS

cardiac

GI

joint

problems.
Copyright 2002 Dr Colin Melville

28-Which of the following statements is true concerning: Intussesception in

children:
(Please select 1 option)

Is more common between the age of 3 months to 8 years

Bile stain vomiting is an early feature

Bleeding per rectum is the most common presenting symptom

Is usually caused by a polyp or pedunculated tumour
Air reduction plays an important role in the management

Correct

Intussusception in children can occur between 3 months and six years of age,
but it is more common in the first 3 years. Colicky abdominal pain, straining
and lethargy are clinical features. Bloody mucus and vomiting occur late
when the bowel becomes strangulated and ischaemic. The condition involves
the telescoping of one segment of the bowel into an adjacent segment. Most
cases are idiopathic, however in a minority of cases there is a 'mechanical
leading segment' which predisposes to the abnormality e.g. polyposis, PeutzJegher's syndrome.Air reduction is therapeutic in most cases which present
within 24 hours.

29-Which of the following is correct concerning pseudotumour cerebri

(benign intracranial hypertension)?
(Please select 1 option)

A mildly increased CSF cell count is typical.

May be caused by prolonged steriod therapy.

Correct

Is typically associated with focal long tract signs.

Frequently presents with ataxia.
Is distinguished from hydrocephalus by the absence of suture separation.

Pseudotumour cerebri is a clinical syndrome that mimics brain tumours, and

is characterised by raised intracranial pressure with normal CSF cell count
and protein content, normal ventricular size, anatomy and position. Causes:

Metabolic disorders: galactosaemia, hypoparathyroidism,

pseudohyperparathyroidism, hypophosphatasia, steroid therapy,
hypervitaminosis A, vitamin A deficiency, Addison's Disease, obesity,
menarche, oral contraceptives, pregnancy.

Infections: Roseola infantum, chronic otitis media, mastoiditis, Guillain

Barr Syndrome. Drugs: Nalidixic acid, tetracycline.

Haematological disorders: Polycythemia, haemolytic and iron

deficiency anaemia, Wiskott Aldrich Syndrome.

Destruction of intracranial drainage by venous thrombosis: Lateral

sinus or posterior saggital sinus thrombosis, head injury, obstruction of
the superior vena cava. It usually presents with headache and vomiting,
though this is rarely as bad as that associated with posterior fossa
tumour.

Diplopia is common due to 6th nerve palsy. Children are alert with no
systemic upset. A bulging fontanelle, cracked pot sounds, or separation of
the cranial sutures may be present. Papilloedema with an enlarged blind spot
is the most consistent sign beyond infancy. Focal and neurological signs
indicate a process other than pseudotumour cerebri. It may be complicated
by optic atrophy and blindness. Most can be treated conservatively with
monitoring of visual acuity. For others, multiple lumbar punctures may be
necessary to reduce intracranial pressure. Very rarely are shunts required.

30-The following are expected at the 6 week surveillance review:

True / False

Eyes show conjugate movement with no squint or nystagmus.

Monosyllabic babbling

Correct

Parents have observed response to sounds

Social smile

Correct

Correct

Correct

Turns to voice

Correct

Expected findings include:

GROSS MOTOR SKILLS: Symmetrical movement of all 4 limbs with

normal muscle tone.

FINE MOTOR/VISION: Follows an object with eyes, and shows

conjugate movement with no squint or nystagmus.

HEARING AND SPEECH: Normal cry and responds to sound.

SOCIAL: Smiles responsively.

Copyright 2002 Dr Colin Melville

31-Hypopituitarism is associated with:

True / False

Normal long synacthen test

Correct

Abnormal short synacthen test

Incorrect answer selected

Less severe hyperkalaemia compared Addison's Disease

Correct

Normal cortisol in relation to insulin induced hypoglycaemia

Increased aldosterone secretion by ACTH

Correct

Correct

Causes of hypopituitarism are legion, but can be broken down into 5 groups:

DEVELOPMENTAL DEFECTS: Anencephaly, holoprosencephaly, midfacial

anomalies.

GENETIC DEFECTS OF GROWTH HORMONE OR GROWTH HORMONE

DEFICIENCY: Isolated, AR type I, AD type II, X-linked, multiple pituitary
deficiencies.

DESTRUCTIVE LESIONS: Trauma, infiltrative lesions (tumours,

histiocytosis X, craniopharyngioma, sarcoid, TB, toxoplasmosis),
irradiation, surgery, vascular lesions, autoimmune.

UNRESPONSIVENESS TO GROWTH HORMONES: Insulin-like growth

factor deficiency, Laron dwarfism (GH receptor gene mutations).

OTHER FUNCTIONAL DEFICIENCY: Hypothyroidism, psychosocial

depravation.

The short synacthen test consists of a single dose of synthetic ACTH.

Normally, there would be a prompt rise in cortisol production in response. If
there is no effect, then a prolonged synacthen test should be done. This
consists of administration of doses of successive days for 3 days. In centrally
mediated (pituitary) defects, there is an increase in cortisol production over

the course of 3 days. If there is a primary hypofunction of the adrenals, then

no response occurs. The primary manifestations of hypopituitarism is growth
failure, though microphallus, neonatal hypoglycaemia, apnoea or cyanosis
may occur. Prolonged jaundice (conjugated and unconjugated) may occur.
Peculiar faces may be noted, with prominent frontal bones, depressed saddle
shaped nose, and well developed nasolabial folds, bulging eyes, and small
chin. Genitalia are under-developed. Since the adrenals have been
hypostimulated, cortrigenol responses in relation to hypoglycaemia will also
be delayed. ACTH does not stimulate aldosterone secretion.
Copyright 2002 Dr Colin Melville

32-You would be likely to observe the lowest heritability score in:

(Please select 1 option)

Cystic fibrosis
Spina bifida
Cleft lip/palate
Mumps

Correct

Congenital heart disease

Mumps is due to an infective agent and hence has the lowest heritability
score. Al the other disorders have a genetic aetiological component eg CF
autosomal recessive.

33-What is the best explanation for the muscle weakness seen in 8-10% of females who are
heterozygotes for the Duchenne muscular dystrophy gene?
(Please select 1 option)

variable expression of the disease gene

X-linked recessive inheritance
a high proportion of the X chromosomes carrying the mutation are active in this female
Correct
relaxation of imprinting

X inactivation does not affect the entire chromosome

a high proportion of the X chromosomes carrying the mutation being active is a good
explanation for this.

34-Regarding the maintenance of diet in diabetes mellitus, the following are

recommended:
True / False

Six main meals per day.

A low fibre diet.

Correct

Correct

Use of highly refined sugars.

A high protein diet.

Correct

Correct

Increasing the medium chain fat contents of the diet.

This is the correct answer

The aim of dietary therapy is to match it to the insulin regimen to even out
blood glucose concentrations as much as possible throughout the day. Three
main meals and 3 snacks are given, and the diet is high in fibre and complex
carbohydrates, and low in fat.
Copyright 2002 Dr Colin Melville

35-Concerning falciparum malaria:

True / False

The temperature pattern is quartan.

Incorrect answer selected

Hypoglycaemia is a recognised consequence.

Correct

Is likely to recur 5 years after leaving an endemic area.

Correct

Corticosteroids are of no benefit in treating cerebral malaria.

Incorrect answer

selected
Primaquine is the treatment of choice in chloroquine-resistant areas.

Correct

Falciparum produce a variable pattern of fever (subtertian or malignant

tertian); Vivax and ovale produce benign tertian and quartan. Hypoglycaemia
occurs, especially in infants. Recurrences of Vivax or ovale may recur weeks
after apparently successful treatment (hepatic cycle), but rarely after more
than a year. In comatose stage of cerebral malaria, Dextran 70 may prevent
intravascular coagulation. Convulsions need anti-convulsants. Quinine may
be used in Chloroquine-resistance.
Copyright 2002 Dr Colin Melville

36-Theme:Palpitations in children.
A Anaemia
B Cardiomyopathy
C

Hyperthyroidism

D Myocarditis
E

Panic attacks

Prolonged QT syndrome

G Sinus arrhythmia
H Sinus tachycardia

Supraventricular

tachycardia
For each scenario choose the most likely diagnosis:
A 14-year-old girl complains of awareness of heart beat. She began menstruating at 12 years, and
has heavy periods. She appears pale.

Correct

The 14-year-old girl is anaemic due to blood loss, resulting in palpitations

A 10-year-old girl complains of awareness of heart beat. She has sweaty palms and a heart rate of
100/min, with a 2/6 ejection systolic murmur in the pulmonary area.

Correct

The 10-year-old girl has a resting tachycardia and sweating, suggesting

hyperthyroidism. Careful examination should be made for goitre, bruit and eye signs.
The murmur is caused by increased flow across the pulmonary valve due to
hyperdynamic circulation.

A 9-year-old boy presents with awareness of heart beat and chest discomfort. Episodes last about
20-30 minutes. He drinks 4 cups of coffee per day.

Incorrect - The correct answer is Supraventricular tachycardia

The 9-year-old boy is probably having episodes of tachyarrhythmia, probably SVT.

This may be precipitated by caffeine (coffee, tea, coke) or pseudoephedrine (cold
cures). Caffeine itself may give sinus tachycardia. Asking the patient to tap out the
rate of heartbeat can be helpful.

37-The following immunisations are contraindicated in a child with eczema of moderate

severity:
True / False

Pertussis
Rubella
Polio

Correct
Correct

Correct

Diphtheria
Measles

Correct

Correct

Eczema of any severity does not preclude giving immunisation. If there has been an
anphylactic reaction to a vaccine, then its administration is contraindicated.

38-A 25-year-old female with systemic lupus erythematosus attends at 20

weeks into her pregnancy for her routine obstetric appointment. The fetal
heart rate is 50 beats per minute. Fetal echocardiography shows complete
heart block.
Which one of the following maternal autoantibodies is likely to be present?
(Please select 1 option)

Anti-dsDNA
Anti-Jo 1
Anti-La (SSB)
Anti-Mitochondrial
Anti-Ro (SSA)

Correct

Anti-Ro antibody is associated with congenital complete heart block

accounting for the vast majority of cases of CHB.
Anti-dsDNA is associated with SLE rather than specific of HB.
Anti-La is associated with Sjgren's and anti-Jo with polymyositis.
Anti-mitochondrial antibody is associated with primary biliary cirrhosis.

39-Theme:Syncope.
A Arrhythmia
B Breath-holding, blue
C

Breath-holding, white
Hypertrophic
cardiomyopathy

Hypoglycaemia

Hypotention, vasovagal

G Hypotension, orthostatic
H Seizure
I Tumour, brain
For each scenario choose the most likely diagnosis:
An 8-year-old girl presents with loss of consciousness and occasional awareness of heartbeat. She
has been deaf from birth.

Correct

The 8-year-old girl has deafness and palpitations, followed by syncope. The most
likely diagnosis is the Jervell-Lange-Neilsen variant of long QT syndrome. The milder
form is the Romano-Ward syndrome.

A 13-year-old girl was found unconscious one Sunday morning whilst in bed. She had wet herself
and took 30 minutes to recover completely.

Correct

The 13-year-old girl has had a generalised seizure as suggested by incontinence and
the prolonged recovery.

An 18 month old boy is referred with loss of consciousness on 6 occasions. Each was preceded by a
tantrum.

Correct

The 18 month old boy has blue breath-holding episodes. These should be
distinguished from white breath-holding, which is an extreme vagal response
resulting in transient asystole.

40-Congenital absence of the vagina is associated with

True / False

absent secondary sexual characteristics

absent uterus

Correct

Correct

exposure to diethyl stilboestrol in utero

Turner's syndrome
imperforate anus

Correct

Correct
Incorrect answer selected

Congenital absence of the uterus usually occurs in conjunction with

congenital absence of the vagina due to failure of development of the
Mullerian duct system. Vaginal atresia is associated most commonly with
Rokitansky-Mayer-Kster-Hauser (RMKH) syndrome, in which the principal
association is with an absent uterus despite the presence of normal ovaries
and normal external genitalia.

41-A 2-year-old Afro-Caribbean boy presents with pallor and splenomegaly,

discovered incidentally by the family doctor during a consultation for URTI.
Full term normal delivery with no neonatal complications. Immunisations up
to date. Mother has sickle trait.
On examination he is apyrexial and well. Conjunctivae are slightly pale.
Respiratory rate is 20/min and pulse 95/min. Chest and ENT are clear. The
spleen is 3 cm palpable, but is soft and non-tender.
What is the most likely diagnosis?
(Please select 1 option)

Acute leukaemia

Haemolytic anaemia, acquired

Malaria
Sickle cell anaemia

Correct

Thalassaemia

The history is of pallor and isolated smooth splenomegaly in a boy of African

origin. The likely diagnosis is Sickle cell disease. This can be confirmed by
haemaglobin electrophoresis.

42-The following conditions can be inherited as an autosomal dominant:

True / False

Neurofibromatosis
Achondroplasia

Correct

Correct

Prader-Willi syndrome
B-thalassaemia
Down's syndrome

Correct

Correct
Correct

Neurofibromatosis and achondroplasia are single gene Autosomal dominant

disorders. B thalassaemia is recessively inherited. One copy of the abnormal
gene is termed 'thalassaemia minor' and if there are 2 copies of the
abnormal gene the condition which develops is thalassaemia major. Prader
Willi syndrome is a chromosomal disorder characterised by insatiable
appetite, hyperglycaemia and short stature. Down's syndrome is a
chromosomal disorder.

43-A 14-year-old boy presents with chronic leg pain and is diagnosed with
an osteosarcoma. Which of the following are true of osteosarcoma?
(Please select 2 options)

Affects the epiphyses of long bones

Are most commonly seen around the knee and in the proximal humerus
May present with lung metastases

Correct

Correct

Is exclusively a disease of adolescence and early adult life

x Ray shows a typical punched out lesion

Osteosarcomas affect the metaphyses of long bones. They are most

commonly seen around the knee and in the proximal humerus.
They often occur in young adults but are also seen in the elderly in
association with Paget's disease. They usually present as bone pain and a
palpable lump.
x Ray shows periosteal elevation (Codman's triangle) and a 'sunburst'
appearance due to soft tissue involvement.
Early haematogenous spread occurs and the 5-year survival rate is
approximately 50%.
_______________________________________________________

44-In pulmonary atresia with intact ventricular septum

True / False

cyanosis is present
convulsions occur

Correct
Correct

continuous murmurs are characteristic

Incorrect answer selected

an ECG can differentiate this condition from Fallot's tetralogy

selected
squatting may improve the symptoms

Correct

Incorrect answer

Pulmonary atresia is associated with cyanosis and heart failure in infancy.

Convulsions may arise from associated cerebral ischaemia and
polycythaemia. The murmur in pulmonary atresia is frequently a combination
of Tricuspid regurgitation and patent ductus arteriosus. Squatting improves
symptoms in Fallot's tetralogy. In PA+IVS the right ventricular forces are
small, whilst in Fallot they are large. The ECG may be helpful in detecting
this.

45-A 5-year-old girl presents with ataxia. She keeps falling to the left
during a ballet lesson. The symptoms persist, and parents take her to
casualty. 41/40 gestation 2.9kg, with no neonatal problems.
On examination she is alert with temperature of 36.9C (tympanic), RR of
20/min and HR of 95/min. She has obvious nystagmus, dysdiadochokinesis
and falls to the left when asked to walk.
What is the most likely diagnosis?
(Please select 1 option)

Encephalitis
Medulloblastoma

Correct

Migraine
Opiage ingestion
Seizure

The history is of subacute cerebellar abnormality in the absence of fever. The most
likely diagnosis is a posterior fossa tumour. This can be confirmed by CT or MRI scan.
The latter is preferable because the bony posterior fossa interferes with CT images.

46-A 16-year-old girl presented with Henoch-Schnlein purpura and renal

involvement. What is the most likely outcome?
(Please select 1 option)

A high probability of relapse

Complete renal recovery
Persistent hypertension

This is the correct answer

Incorrect answer selected

Persistent proteinuria
Requirement for long-term corticosteroids

Henoch-Schnlein Purpura (HSP) is a self-limiting vasculitis which occurs in

children and young adults. It is characterized by non-thrombocytopenic
purpura, arthralgia, abdominal pain and glomerular nephritis. It is likely to be
an immune complex disease - involving IgA, but no treatment has proven
efficacy. The disease usually settles between 4-6 weeks without sequelae if
kidney involvement is mild. However this condition can occasionally relapse

47-Which one of the following statements is correct?

(Please select 1 option)

The abducens nerve supplies the lacrimal gland

The facial nerve supplies the parotid salivary gland
The oculomotor nerve supplies the dilator pupillae muscle
The vagus nerve supplies the palatal muscles

This is the correct answer

The trochlear nerve supplies the superior rectus muscle

Incorrect answer selected

The lacrimal gland is supplied by the facial nerve. The glossopharyngeal

nerve supplies the parotid salivary gland controlling salivary secretions. The
oculomotor nerve carries parasympathetic efferents to the sphincter pupillae
muscle, whilst the optic nerve carries sympathetic postganglionic fibres to
the dilator pupillae muscle. The trochlear nerve supplies the superior oblique
muscle. The occulomotor nerve innervates the superior rectus.

48-Which one of the following cells in the lung parenchyma produces

surfactant?
(Please select 1 option)

Alveolar macrophage
Endothelial cell
Goblet cell
Type I pneumocyte
Type II pneumocyte

Correct

Surfactant is produced by type 2 pneumocytes and is responsible for the

ability of the air-filled alveoli to expand without collapse

49-In which of the following chromosome abnormalities is mosaicism most likely to be

seen?
(Please select 1 option)

Klinefelter syndrome
Down syndrome
XXX syndrome
Turner syndrome

Correct

Translocation Down Syndrome

Mosaicism in Turner's syndrome is felt to provide fetal survival

50-Which of the following will yield the highest recurrence risk for Down syndrome in a
family?

(Please select 1 option)

45-year-old mother
65-year-old father
25-year-old mother with a previous child with trisomy 21
20-year-old mother who carries a 21/14 Robertsonian translocation and has had no
previous children with Down syndrome

This is the correct answer

20-year-old father who carries a 21/14 Robertsonian translocation and has had no
previous children wit Down syndrome

Incorrect answer selected

A 21/14 Robertsonian translocation is one cause of Downs syndrome. A 45-year-old

mother has around a 2% chance of having a baby with down syndrome. Similarly the
previous history of Down's does not constitute a higher risk as most cases are from
individual nondisjunction events. More here:
http://www.nas.com/downsyn/benke.html