2007 Paper B

Question 1

Which of the following is not a typical clinical feature of severe intrauterine cytomegalovirus (CMV) infection?
A. Anaemia.
B. Cataracts.
C. Chorioretinitis.
D. Hepatosplenomegaly.
E. Intrauterine growth restriction.

Answer 1

B. Cataracts.

CID is characterized by intrauterine growth retardation, hepatosplenomegaly, hematological abnormalities (particularly thrombocytopenia), and various cutaneous manifestations, including petechiae and purpura (ie, blueberry muffin baby). However, the most significant manifestations of CID involve the CNS. Microcephaly, ventriculomegaly, cerebral atrophy, chorioretinitis, and sensorineural hearing loss are the most common neurological consequences of CID.

If primary maternal infection occurs during pregnancy, the average rate of transmission to the fetus is 40%; approximately 65% of these infants have cytomegalovirus disease at birth. With recurrent maternal infection (ie, cytomegalovirus infection that occurs in the context of preconceptual immunity), the risk of transmission to the fetus is lower, ranging from 0.5-1.5%

Question 2

A previously well seven-year-old girl presents to the Emergency Department with a four day history of fever and sore throat, lethargy and two days of dyspnoea and a macular rash on her palms and soles. On examination her heart rate is 160, temperature 38.6°c, respiratory rate of 60, blood pressure of 70/55 and oxygen saturation of 92% on room air. On examination she is pale and looks unwell with cool peripheries and panting respirations. Her chest radiograph is shown below.

Which of the following is the most likely diagnosis?
A. Atypical pneumonia.
B. Mediastinal mass.
C. Myocarditis.
D. Pneumomediastinum.
E. Pneumonitis.

Answer 2

C. Myocarditis.

Question 3

In the secondary prevention of rheumatic fever which of the following is the current recommended regime?
A. Intramuscular penicillin.
B. Intravenous amoxicillin with febrile illness.
C. Oral amoxicillin with febrile illness.
D. Oral erythromycin, twice daily.
E. Oral penicillin V, twice daily.

Answer 3

A. Intramuscular penicillin.

Question 4

A six-year-old girl presents with enuresis. She has never been reliably dry at night. She also has problems with daytime wetting. Her underpants are often damp, and she has urgency and frequency. Examination and urinalysis are normal.

Which treatment is most likely to be effective?

A. Bladder training exercises.
B. DDAVP.
C. Laxatives.
D. Oxybutinin.
E. Pad + bell.

Answer 4

D. Oxybutinin.

Question 5

A 15-year-old girl presents with a history of deterioration of night vision and peripheral vision. Her past history includes mild global developmental delay, obesity and surgery in infancy for 4-limb post-axial polydactyly. Eye examination reveals a pigmentary retinopathy.
The most likely diagnosis is:
A. autosomal recessive retinitis pigmentosa.
B. bardet-biedl syndrome.
C. choroideraemia.
D. McKusick-kaufman syndrome.
E. refsum disease.

Answer 5

B. bardet-biedl syndrome.

Retinitis pigmentosa -

• progressive degeneration and dysfunction of the retina, primarily affecting photoreceptor and pigment epithelial function.
• Night and peripheral vision are lost progressively, leading to a constricted visual field and markedly diminished vision in some patients.

_Bardet-Biedl syndrome _

• autosomal recessive
• obesity
• hypogenitalism in men,
• mental retardation,
• retinal dystrophy,
• polydactyly,
• renal malformations (particularly calyceal abnormalities),
• hypertension
• and, over time, progressive chronic kidney disease.

Choroideremia is an x-linked recessive retinal degenerative disease.

McKusick-Kaufman

• affects the development of the hands and feet, heart, and reproductive system.
• characterized by a combination of three features:
• polydactyly
• heart defects, and
• genital abnormalities.

Refsum Disease

• Peroxisomal disorder. Classic Refsum disease is characterized by the presence of four clinical abnormalities:
• Retinitis pigmentosa
• Peripheral polyneuropathy
• Cerebellar ataxia
• Elevated cerebrospinal fluid protein concentration (100 to 600 mg/dL) without an increase in cells

Question 6

A four-week-old boy presents with persistent abdominal distension and infrequent bowel motions. He is exclusively breast-fed but is vomiting after most feeds. His weight gain is slow. On rectal examination he empties faecal fluid and air under pressure. An abdominal X-ray shows occasional small intestinal air-fluid levels and a distended colon.
Which diagnostic test will most likely reveal the correct diagnosis?
A. Barium meal.
B. Computed tomography scan.
C. Gas enema.
D. Nuclear medicine intestinal transit scan.
E. Rectal suction biopsy.

Answer 6

E. Rectal suction biopsy.

Features: constipation, partial obstruction (air fluid levels), dilated colon - hirschprungs therefore biopsy

Question 7

A seven-year-old boy presents with a six month history of episodes occurring in sleep. The events occur in the early morning and wake him. During an episode, he is able to walk into his parent’s room, but is unable to speak. His parents have noticed that during an episode he has “spasms” of the right side of his face with marked salivation. He is able to describe tingling of his tongue after the event. An electroencephalogram (EEG) is performed and is shown below.

What is the most likely diagnosis?

A. Absence epilepsy.

B. Benign partial epilepsy of childhood.

C. Frontal lobe epilepsy.

D. Parasomnia.

E. Temporal lobe epilepsy.

.

Answer 7

B. Benign partial epilepsy of childhood.

Benign childhood epilepsy with centrotemporal spikes (BECTS) - Most common. Typically starts during childhood and is outgrown in adolescence. The child typically wakes up at night owing to a simple partial seizure causing buccal and throat tingling and tonic or clonic contractions of one side of the face, with drooling and inability to speak but with preserved consciousness and comprehension. Complex partial and secondary generalized seizures can also occur. EEG shows typical broad-based centrotemporal spikes that are markedly increased in frequency during drowsiness and sleep. MRI is normal. Patients respond very well to AEDs such as carbamazepine. In some patients who only have rare and mild seizures treatment might not be needed.

Absence Seizures
Typical absence seizures usually start at 5-8 yr of age and are often, owing to their brevity, overlooked by parents for many months even though they can occur up to hundreds of times per day. Unlike complex partial seizures they do not have an aura, usually last for only a few seconds, and are accompanied by flutter or upward rolling of the eyes but typically not by automatisms of the complex partial seizure type (absence seizures can have simple automatisms like lip-smacking or picking at clothing and the head can minimally fall forward). Absence seizures do not have a postictal period and are characterized by immediate resumption of what the patient was doing before the seizure. Hyperventilation for 3-5 min can precipitate the seizures and the accompanying 3 Hz spike–and–slow wave discharges. The presence of periorbital, lid, perioral or limb myoclonic jerks with the typical absence usually predicts difficulty in controlling the seizures with medication.

Atypical absence seizures have associated myoclonic components and tone changes of the head and body and are also usually more difficult to treat. They are precipitated by drowsiness and are usually accompanied by 1-2 Hz spike–and–slow wave discharges.

Juvenile absence seizures are similar to typical absences but occur at a later age and are accompanied by 4-6 Hz spike–and–slow wave and polyspike–and–slow wave discharges. These are usually associated with juvenile myoclonic epilepsy.

Nocturnal autosomal dominant frontal lobe epilepsy has been linked to acetylcholine-receptor gene mutations and manifests with nocturnal seizures with dystonic posturing that respond promptly to carbamazepine. Several other less-frequent familial benign epilepsy syndromes with different localizations have also been described, some of which occur exclusively or predominantly in adults.

Parasomnias are defined as episodic nocturnal behaviors that often involve cognitive disorientation and autonomic and skeletal muscle disturbance. Parasomnias may be further characterized as occurring primarily during NREM sleep (partial arousal parasomnias) or in association with REM sleep, including nightmares, hypnogogic hallucinations, and sleep paralysis; other common parasomnias include sleep-talking.

Temporal Lobe Epilepsy - Activation of temporal discharges in sleep can lead to loss of speech and verbal auditory agnosia (Landau-Kleffner epileptic aphasia syndrome).

Question 8

A test has a sensitivity of 95% and a specificity of 90%. It is used to screen the general population for a condition that has a prevalence of 1 in 100,000.
What will the positive predictive value be nearest to?
A. 0.01%.
B. 0.05%.
C. 0.1%.
D. 0.5%.
E. 1%.

Answer 8

A. 0.01%.

Question 9

A four-year-old boy is referred because of the development of pubic hair. On examination he has Tanner stage 3 pubic hair. His testes are 2 ml in volume bilaterally. Investigations are as follows:

• Testosterone level: 7.8 nmol/l [< 1.8 mmol/l]
• Bone age: 7 years

Which of the following is the most likely diagnosis?

A. Central precocious puberty.
B. Congenital adrenal hyperplasia.
C. Craniopharyngioma.
D. Cushing syndrome.
E. Premature adrenarche.

Answer 9

B. Congenital adrenal hyperplasia.

Can’t be central as testes aren’t stimulated to produce testostérone therefore needs to be exogenous source ie CAH producing testosterone

Central precocious puberty is early breast or testicular development (testes not developed in this case)

CAH :
Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:

• Abnormal menstrual periods
• Deep voice
• Early appearance of pubic and armpit hair
• Excessive hair growth and facial hair
• Failure to menstruate
• Genitals that look both male and female (ambiguous genitalia), often appearing more male than female

Boys won’t have any obvious problems at birth. However, they may appear to enter puberty as early as 2 - 3 years of age. Changes may include:

• Deep voice
• Early appearance of pubic and armpit hair
• Early development of male characteristics
• Enlarged penis
• Small testes
• Well-developed muscles

Craniopharyngioma – multiple deficiencies

Question 10

A full-term neonate is born following a pregnancy complicated by polyhydramnios. The baby was hydropic, and died at six hours of age.
Which one of the following is least likely to have caused this?
A. Alpha-thalassaemia.
B. Beta-thalassaemia.
C. Blackfan-Diamond anaemia.
D. Fetal parvovirus B19 infection.
E. Rh disease of the newborn.

Answer 10

B. Beta-thalassaemia.

Thalassaemias: prenatally, fetus with α-thalassaemia may become symptomatic because HbF requires sufficiency α-globin gene production, whereas postnatally infants with β-thalassaemia become symptomatic because HbA requires adequate production of β-globin genes
Blackfan-Diamond: haematopoesis usually adequate in fetal life but some are pale at birth, hydrops fetalis occurs but is rare

Question 11

A seven-year-old boy is presented with a slowly evolving history of frequent and excessive checking of locks around the house at night, lining up his toys and books in his bedroom and hoarding paper and string. These new symptoms are distressing for him and may preoccupy him for one to two hours every day.
The most likely diagnosis is:

A. asperger syndrome.
B. depressive disorder.
C. generalised anxiety disorder.
D. obsessive compulsive disorder.
E. schizophrenia.

Answer 11

D. obsessive compulsive disorder.

Question 12

A five-year-old boy presents with multiple ulcerated skin lesions (as shown) with raised margins, which commenced as pustular lesions associated with fever a week prior to presentation. Pyoderma gangrenosum is confirmed by skin biopsy.

Which of the following is most likely to be associated with this skin lesion?

A. Chronic granulomatous disease.
B. Human immunodeficiency virus (HIV) infection.
C. Inflammatory bowel disease.
D. Pseudomonas septicaemia.
E. Systemic lupus erythematosis.

Answer 12

C. Inflammatory bowel disease.

Question 13

You attend the delivery of a term female infant born to an intravenous drug user. The mother’s antenatal screening revealed that she was positive for hepatitis C and hepatitis B surface antigen. She was HIV negative. The management of this infant should include:
A. administration of hepatitis B vaccination.
B. administration of both hepatitis B vaccination and hepatitis B immunoglobulin.
C. check liver function tests and serology of the infant within 24 hours.
D. withhold hepatitis B vaccination and screen the infant for seroconversion in 12 months time after disappearance of maternal antibody.
E. exclusion of breast milk from the diet.

Answer 13

B. administration of both hepatitis B vaccination and hepatitis B immunoglobulin.

Question 14

A cystic lung lesion is diagnosed antenatally on routine ultrasound. After birth a CXR was performed and was normal.
The most appropriate next step is:
A. bronchoscopy.
B. chest X-ray.
C. CT angiography.
D. high resolution CT of chest.
E. ventilation/Perfusion scan.

Answer 14

D. high resolution CT of chest.

Question 15

A well eight-week-old infant girl is referred because an antenatal ultrasound scan at 34 weeks gestation showed that the right kidney contained several cysts. The left kidney was normal. A postnatal scan confirmed that the left kidney is large but normal whereas the right kidney contains multiple cysts without normal intervening parenchyma.
The most likely long term outcome of multicystic dysplastic kidney is:
A well eight-week-old infant girl is referred because an antenatal ultrasound scan at 34 weeks gestation showed that the right kidney contained several cysts. The left kidney was normal. A postnatal scan confirmed that the left kidney is large but normal whereas the right kidney contains multiple cysts without normal intervening parenchyma.
The most likely long term outcome of multicystic dysplastic kidney is:
A. normal renal function.
B. recurrent haematuria.
C. recurrent urine infections.
D. systemic hypertension.
E. Wilms tumour in the cystic kidney.

Answer 15

A. normal renal function.

Question 16

A six-year-old boy presents to the Emergency Department with acute urinary retention requiring urgent catheterisation. He has been previously well, but his parents state that he has complained of leg and lower abdominal pain for the last three days and has been walking ‘a bit funny’. On examination he is alert and cooperative with normal upper limb power, reflexes and light touch sensation. He has a broad based gait and is unable to arise from a squatting position without assistance. His lower limb reflexes are difficult to elicit and sensation is reduced in a patchy fashion in both lower limbs.
Which of the following is the most likely diagnosis?
A. Conversion disorder.
B. Guillain-Barré syndrome.
C. Multiple sclerosis.
D. Poliomyelitis.
E. Transverse myelitis.

Answer 16

E. Transverse myelitis.

Transverse Myelitis - Rapid development of both motor and sensory deficits. It has multiple causes and tends to occur in 2 distinct contexts. Small children, 3 yr of age and younger, develop spinal cord dysfunction over hours to a few days. They have a history of an infectious disease, usually of viral origin, or of an immunization within the few weeks preceding the 1st development of their neurologic difficulties. The clinical loss of function is often severe and may seem complete. Although a slow recovery is common in these cases, it is likely to be incomplete. The likelihood of independent ambulation in these small children is about 40%. The pathologic findings of perivascular infiltration with mononuclear cells imply an infectious or inflammatory basis. Overt necrosis of spinal cord can be seen.

In older children, the syndrome is somewhat different. Although the onset is also rapid with a nadir in neurologic function occurring between 2 days and 2 wk, recovery is more rapid and more likely to be complete. Pathologic or imaging examination shows acute demyelination.

Guillain-Barre - The paralysis usually follows a nonspecific viral infection by about 10 days. Weakness usually begins in the lower extremities and progressively involves the trunk, the upper limbs, and finally the bulbar muscles, a pattern known as Landry ascending paralysis. Proximal and distal muscles are involved relatively symmetrically, but asymmetry is found in 9% of patients. The onset is gradual and progresses over days or weeks. Particularly in cases with an abrupt onset, tenderness on palpation and pain in muscles is common in the initial stages. Affected children are irritable. Weakness can progress to inability or refusal to walk and later to flaccid tetraplegia. Paresthesias occur in some cases.

Multiple Sclerosis - Multiple sclerosis (MS) is a chronic demyelinating disorder of the brain, spinal cord and optic nerves characterized by a relapsing-remitting course of neurologic episodes separated in time and space. Presenting symptoms in pediatric MS include hemiparesis or paraparesis, unilateral or bilateral optic neuritis, focal sensory loss, ataxia, diplopia, dysarthria, or bowel/bladder dysfunction.

Poliomyelitis - Virus attacks anterior spinal cord so only motor affected. Weakness may vary from one muscle or group of muscles, to quadriplegia, and respiratory failure. Tone is reduced, nearly always in an asymmetric manner. Proximal muscles usually are affected more than distal muscles, and legs more commonly than arms. Reflexes are decreased or absent. The sensory examination is almost always normal.

Weakness typically worsens over two to three days, although sometimes worsening can progress for up to a week. Bulbar involvement occurs in 5 to 35 percent of patients, producing dysphagia, dysarthria, and difficulty handling secretions. There may be encephalitis, usually in infancy. Respiratory insufficiency may occur.

Brown-Sequard Syndrome (for interest)
The Brown-Séquard syndrome is characterized by ipsilateral loss of motor function, vibration, and proprioception below the level of the lesion with contralateral loss of pain and temperature sensation beginning approximately two levels below the lesion. This pattern of deficits occurs because the spinothalamic tract travels on the ipsilateral side of the cord before crossing over to the contralateral side. In addition, ipsilateral loss of pain and temperature sensation may occur at one or two levels below the lesion.

Question 17

A 27-week-female infant develops abdominal distension and increasing ventilatory requirements at four days of age. Abdominal x-rays are taken and shown below.

he most likely cause is:
A. duodenal atresia.
B. hirshsprungs disease.
C. ileal perforation.
D. meconium ileus.
E. volvulus.

Answer 17

C. ileal perforation.

Question 18

An eight-year-old male presents to the emergency room with severe leg pain, predominantly in the calf muscles after an upper respiratory tract infection three days previously.

On examination, he is unable to walk but is otherwise well. He complains of pain during the examination.
Investigations show a creatine kinase of 2000 iu/l [40-240 iu/l]. Which of the following is the most likely diagnosis?

A. Dermatomyositis
B. Guillain-Barré syndrome.
C. McArdle disease.
D. Myositis.
E. Rhabdomyolysis.

Answer 18

D. Myositis.

Typical story for benign acute childhood myositis → URTI symptoms followed by calf pain, otherwise normal examination, markedly raised CK, improves by a week

• The onset of pain tended to occur after a period of rest— that is, on awakening
• The vast majority of children tested had a raised CK
  
  • In many cases this was massively elevated, however none of the children tested had evidence of rhabdomyolysis—that is, myoglobin in urine.
• Other less consistent laboratory findings are leucopenia, thrombocytopenia, and elevated serum glutamic oxaloacetic transaminase (SGOT).
• Neurology is reported as normal and it has been suggested that mild calf weakness is due to muscle pain rather than true inability of muscle to generate power.
• Muscle studies have been performed relatively infre- quently in view of the short duration of symptoms and the benign prognosis. When electromyograms have been recorded they have either been normal or suggested patchy myopathic changes.The few muscles biopsies taken have been reported as normal, or said to demonstrate myositis, segmental rhabdomyolysis, or moderate muscle necrosis with interstitial inflammation.

Question 19

A 12-year-old boy presents with a two day history of severe right iliac fossa pain. The illness started with vomiting, as well as high fevers and diarrhoea. On examination, he is tender in the right iliac fossa, with the remainder of the physical examination unremarkable.
Which of the following organisms is most likely to cause this clinical picture?
A. Aeromononas hydrophila.
B. Campylobacter jejuni.
C. Enterococcus faecalis.
D. Salmonella typhi.
E. Yersinia enterocolitica.

Answer 19

E. Yersinia enterocolitica.

Question 20

A 2 1⁄2 -year-old boy presents for developmental assessment. He has only a few single words, but babbles extensively and uses some jargon. His parents feel he can follow some directions; however he is unable to point to body parts. He takes his parents by the hand and leads them to things he wants. He has no pretend play, and does not interact with other children. He is very active. He can run, jump, climb and take off his clothes. He is easily frustrated, and screams, hits and bites when upset.
What is the most likely diagnosis?
A. Autism.
B. Autistic disorder.
C. Developmental language disorder
D. Intellectual disability
E. Sensorineural hearing impairment

Answer 20

D. Intellectual disability

Question 21

An eight-year-old boy is referred for evaluation of wheezing which had been present on a monthly basis over the previous year. Physical examination was normal as was his chest X-ray.
His spirometry results were as follows:

• Forced Vital Capacity (FVC ) 70% of predicted
• Forced Vital Capacity in 1 second (FVC) 79% of predicted
• Forced Expiratory Flow 25%-75% (FEF25%-75% ) 74% of predicted.

This spirometric pattern is most suggestive of which of the following?

A. Lower airway obstruction.
B. Poor technique.
C. Respiratory muscle weakness.
D. Restrictive pattern.
E. Upper airway obstruction.

Answer 21

B. Poor technique.

Question 22

A two-year-old girl returns from child care after an apparently ordinary day. When her mother undresses her for her bath she notices blood in the girl’s underwear. The mother examines the girl’s genital region and notices the findings in the photograph.

What is most likely the cause of the girl’s genital bleeding?

A. Accidental “fall astride” injury.

B. Congenital haemangioma of the labia

C. Lichen sclerosis et atrophicus.

D. Sexual abuse.

E. Traumatic separation of labial adhesions.

Answer 22

A. Accidental “fall astride” injury.

Question 23

A three-year-old boy is brought to the Emergency Department by ambulance with sudden onset of stridor, barking cough and hoarse voice. His oxygen saturation in the ambulance was 88% in air. On arrival he is sitting on his mother’s lap looking anxious, pale and sweaty. He has a loud stridor at rest with marked tracheal tug, intercostal recession and subcostal indrawing.
Which of the following is the most appropriate next step in management?
A. Intramuscular Adrenaline.
B. Intravenous Dexamethasone.
C. Nebulised Adrenaline.
D. Nebulised Budesonide.
E. Oral Dexamethasone.

Answer 23

C. Nebulised Adrenaline.

Croup
Mild – single dose oral dex, home
Moderate – oral dex, observe
Severe – adrenaline nebulised 1% solution 0.05mL/kg made to 4mL with N/saline and give with O2, single dose oral steroids, consider IV dexamethasone 0.6mg/kg

Question 24

A two-year-old boy is found to have severe bilateral sensorineural deafness. There is no family history of note. On examination, he has partial heterochromia iridis, white eyelashes, a broad nasal bridge with telecanthus, and several depigmented patches on his trunk and limbs.

What is the most likely diagnosis?

A. Branchio-oto-renal syndrome.

B. Oculo-cutaneous albinism.

C. Pendred syndrome.

D. Tuberous sclerosis.

E. Waardenburg syndrome.

Answer 24

E. Waardenburg syndrome.

Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition.

Branchio-oto-renal syndrome (BOR), also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck.
Individiduals with BOR may have underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.
Ear anomalies include extra openings in front of the ears (preauricular pits), extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible. Individuals can have mild to profound hearing loss, which can either be sensorineural, conductive, or mixed. People with BOR may also have cysts or fistulae along the sides of their neck corresponding to the location of the embryologic branchial clefts.

Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). 4 types.

Pendred syndrome is a disorder typically associated with hearing loss and a goiter.

Question 25

A three-month-old male boy presents with a four week history of persistent crying and frequent vomiting after most feeds. The infant is predominantly breast-fed. Occasional supplemental cow milk formula feeds were commenced from eight weeks of age because his mother returned to part-time work. The infant is generally well and passes four soft bowel motions per day, with increased mucus but no visible blood. Over the past two months his weight has fallen from the 50th to the 25th weight- for-age percentile. Which one of the following is the most likely diagnosis? A. Cow milk protein intolerance. B. Gastro-oesophageal reflux. C. Infantile colic. D. Lactose intolerance. E. Pyloric stenosis.

Answer 25

A. Cow milk protein intolerance.

Question 26

Which of the following observations regarding a rare disorder would provide the best evidence of autosomal dominant inheritance? A. Father and son affected. B. Father and daughter affected. C. Mother and son affected. D. Mother and daughter affected. E. Male and female cousins affected.

Answer 26

A. Father and son affected.

Question 27

An otherwise healthy four-year-old without drug allergies is admitted with the chest X-ray shown below. Empiric treatment is initiated with Benzylpenicillin. By the second hospital day the patient is improving and the microbiology laboratory reports that a blood culture is growing Streptococcus pneumoniae with a penicillin MIC = 0.2 μg/mL (intermediate) and resistant to erythromycin. Which one of the following antibiotics is the most appropriate to continue therapy? A. Amoxicillin-clavulinic acid. B. Azithromycin. C. Cefotaxime. D. Penicillin. E. Trimethoprim-sulfamethoxazole.

Answer 27

D. Penicillin.

Question 28

An immediate generalised reaction to which of the following drugs is most likely to be mediated by IgE (immunoglobulin E)? A. Aspirin. B. Cephalothin. C. Dextran. D. Radiographic contrast media. E. Vancomycin.

Answer 28

B. Cephalothin.

Question 29

A 15-year-old girl with known anorexia nervosa is brought to the Emergency Department following a collapse at school. On examination she is alert and orientated but feels faint when standing. She is clinically dehydrated with dry mucous membranes, reduced tissue turgor and reduced urine output. Her heart rate is 45, respiratory rate 30, temperature of 35.5 and blood pressure of 90/65. Her blood chemistry is shown below. Which of the following would be the electrocardiogram? A. Elevation ST segment. B. Peaked T-waves. C. Reduced PR interval. D. Shortened QT interval. E. U-waves.

Answer 29

E. U-waves. **_Hypokalaemia_**: flattened or inverted T waves, a U wave, ST depression and a wide PR interval. **_Hyperkalaemia_**: reduction of the size of the P wave and development of peaked T waves. Severe hyperkalemia results in a widening of the QRS complex, and ECG complex can evolve to a sinusoidal shape. Faster repolarization of the cardiac action potential causes the tenting of the T waves, and the inactivation of sodium channels causes a sluggish conduction of the electrical wave around the heart, which leads to smaller P waves and widening of the QRS complex

Question 30

A neonate, born at 36-weeks to a Sudanese mother presents on day eight of life with apnoea and seizures. The baby had a birth weight of 2.4kg and has been fully breastfed. Investigations done at the time of a seizure are as follows: Which of the following is the most likely cause of the seizures? A. Excessive phosphate in milk. B. Maternal diabetes. C. Maternal hyperparathyroidism. D. Maternal Vitamin D deficiency. E. Prematurity.

Answer 30

D. Maternal Vitamin D deficiency.

Question 31

A four-year-old boy is referred for evaluation of a history of easy bruising before planned tonsillectomy for recurrent tonsillitis. He had an uncomplicated circumcision in the neonatal period. His mother reports that she had a post-partum haemorrhage requiring transfusion and tends to bruise easily herself. There is no other family history of note. A full blood count is normal. Coagulation screen demonstrates a prolonged activated partial thromboplastin time (APTT) with a normal international normalized ratio (INR). Which is the most likely diagnosis? A. Factor VIII deficiency. B. Factor V Leiden. C. Lupus anticoagulant. D. Protein S deficiency. E. Vitamin K deficiency.

Answer 31

C. Lupus anticoagulant. Factor V Leiden, lupus anticoag, protein S deficiency all are procoagulants Factor VIII (haemophilia A) unlikely as would have bled with circumcision Vit K would make INR abnormal INR – extrinsic (II, VII, IX, X) APTT – intrinsic (VIII, IX, XI, XII) **_Lupus anticoagulant_** (also known as lupus antibody, LA, or lupus inhibitors, antiphospholipid antibody syndrome) is an immunoglobulin[1] that binds to phospholipids and proteins associated with the cell membrane. Lupus anticoagulant is actually a prothrombotic agent, that is, presence of Lupus anticoagulant antibodies precipitates the formation of thrombi in vivo. Their name derives from their properties in vitro, since in laboratory tests, presence of these antibodies causes an **increase in aPTT, doesn’t correct with 50:50 mix** Hypercoaguable with excess bleeding

Question 32

A five-year-old boy is brought in by ambulance. He is sitting forward, drooling and looks pale and anxious. He has an audible stridor and his saturation on room air is 99%. He intermittently gags and dry retches and during these episodes his saturations fall to 82%. His chest radiograph is shown below. Which of the following is the most appropriate next step in management? A. Gaseous induction and examination under anaesthesia. B. Intravenous Adrenaline C. Nebulised Adrenaline. D. Nebulised Budesonide. E. Rapid sequence induction and examination under anesthesia.

Answer 32

A. Gaseous induction and examination under anaesthesia.

Question 33

A seven-year-old girl is seen with a history of polyuria and polydipsia. She has been unwell with a fever and vomiting for a week. There is no family history of diabetes. Investigations confirm she has Type 1 diabetes and hypothyroidism. Which of the following conditions is she most likely to develop in the future? A. Addison disease. B. Coeliac disease. C. Hypoparathyroidism D. Polycystic ovary disease. E. Systemic lupus erythematosus.

Answer 33

B. Coeliac disease. 4-10% of those with T1DM will have celiac (usu prev 1%) Autoimmune conditions are: * Thyroid – 4% (more have thyroid Ab but don’t actually develop disease – 25%) * Celiac – 6% (12% have antibody) * Pernicious anaemia 2.6% * Addisions 0.5%

Question 34

A six-year-old girl presents to her paediatrician with irritability and unsteadiness. On questioning there is a seven week history of double vision and ataxia. Cranial nerve exam shows a left abducens nerve palsy with mild right facial weakness. She has very brisk reflexes with bilaterally upgoing plantar responses. MRI scan of her brain is performed and shown below. The MRI is most consistent with: A. brain abscess. B. cerebellitis. C. craniopharyngioma D. disseminated encephalomyelitis. E. glioma.

Answer 34

E. glioma. CLINICAL PRESENTATION — Diffuse pontine gliomas can present with varied symptoms depending on the location of the lesion. These include: * Cranial nerve palsies, long tract signs (eg, hemiparesis) and ataxia in over 50 percent of patients. Cranial nerves VI and VII are most commonly affected but III, IV, IX and X may also be involved. * Hydrocephalus with elevated intracranial pressure (ICP) is observed in fewer than 10 percent of patients at presentation. * Intratumoral hemorrhage can be present in about 6 percent of patients at the time of diagnosis [23]. Symptomatic hemorrhage may eventually occur in up to 20 percent of children, usually in necrotic areas of tumor. None of these symptoms is pathognomonic of diffuse pontine gliomas. Other brainstem tumors can present with similar symptoms. * Cervicomedullary tumors typically present with lower cranial nerve dysfunction and ataxia. * Focal tumors tend to interfere with the cranial nerves adjacent to the site of origin. * Unlike other brainstem tumors, tectal plate lesions present with hydrocephalus in over 90 percent of cases. Although these tumors are rarely biopsied, those that have been studied are almost always low-grade astrocytomas.

Question 35

A six-month-old breastfed girl developed wheeze, profuse vomiting, generalised rash and angio- oedema within minutes of ingestion of her second complement feed of 150ml cow’s milk based formula. Her first feed was given a week prior without problems. A skin prick allergy test was positive for cow’s milk and egg. By the age of three-years, what is the likelihood that she will be able to tolerate normal cow’s milk ingestion? A. 10%. B. 25%. C. 50%. D. 75%. E. 95%.

Answer 35

D. 75%.

Question 36

A two-year-old child became unwell with fever and irritability. After two days, he developed a rash. The fever settled over the next day, and the rash evolved as shown in the photograph below. Which of the following most commonly causes secondary skin infection in this condition? A. Haemophilus influenzae. B. Pseudomonas aerunginosa. C. Staphyloccus epidermidis. D. Streptococcus pneumoniae. E. Streptococcus pyogenes.

Answer 36

E. Streptococcus pyogenes.

Question 37

A six-year-old girl is referred with poor weight gain and chronic diarrhoea. Which of the following has the highest positive predictive value for coeliac disease? A. IgA AGA (Immunoglobulin A Antigliadin Antibody). B. IgG AGA (Immunoglobulin G Antigliadin Antibody). C. IgA AntiTTG (Immunoglobulin A Anti Tissue Transglutaminase). D. IgG AntiTTG (Immunoglobulin G Anti Tissue Transglutaminase). E. HLA (Human Leucocyte Antigen) DQ2 Typing.

Answer 37

C. IgA AntiTTG (Immunoglobulin A Anti Tissue Transglutaminase).

Question 38

The commonest pattern of asthma in early childhood is infrequent episodic, characterised by acute episodes triggered by viruses, with few or no symptoms in between. Which of the following preventer medication strategies is most appropriate? A. Inhaled corticosteroids / long-acting beta agonist B. Inhaled corticosteroids. C. Inhaled long-acting beta agonist. D. Inhaled non-steroidal antiinflammatory. E. No preventer medication.

Answer 38

E. No preventer medication.

Question 39

In children with autism which of the following symptoms responds best to the atypical antipsychotic risperidone? A. Echolalia. B. Inattention. C. Obsessional behaviour. D. Self-injurious behaviour E. Socialisation.

Answer 39

D. Self-injurious behaviour

Question 40

A 12-year-old boy is seen in the Emergency Department with a history of a few seconds of lightheadedness while walking in the hot sun. He was then observed to fall to the ground and was unresponsive for one minute. There is no history of chest pain, shortness of breath or palpitations. His 12 lead ECG is shown below. The mechanism for the ECG changes is most likely to be anterograde conduction through: A. an accessory AV pathway after conduction through the AV node. B. an accessory AV pathway before conduction through the AV node. C. an accessory AV pathway with no conduction through the AV node. D. an accessory atrio-Hisian ( intranodal) pathway. E. the AV node with retrograde conduction through an accessory pathway.

Answer 40

B. an accessory AV pathway before conduction through the AV node. WPW is an accessory pathway without a rate limit like AV node. Depolarisation commences from SA node and travels through accessory pathway before conduction to AV node, causing slurred upstroke of QRS.

Question 41

A two-year-old girl is presented by her foster mother for a developmental assessment. She was removed from her biological parents’ care at nine months, and is currently in her fourth foster placement. On history she has delayed language and social development. While you talk with her foster mother the girl sits relatively still, demonstrating little animation. She does not respond verbally to your questions. After 15 minutes she climbs onto your lap and cuddles you. What is the most likely explanation for the girl’s behaviour? A. Attachment disorder. B. Autism. C. Hearing impairment. D. Intellectual disability. E. Post traumatic stress disorder.

Answer 41

A. Attachment disorder **_Attachment disorder_** — Similar to children with ASD, children with severe early deprivation or reactive attachment disorder may have abnormalities in social interaction, communication, and behavior. However, there usually is a history of severe neglect or mental health issues in the caretaker [7]. In addition, the social deficits of children with attachment disorder tend to improve in response to an appropriate environment

Question 42

A four-year-old boy is referred to the Otorhinolaryngology clinic for assessment. The appearance of his left tympanic membrane on otoscopy is shown below. In this disease, the most common presenting symptom or sign is: A. dizziness. B. facial palsy. C. hearing loss. D. otalgia. E. otorrhea.

Answer 42

E. otorrhea.

Question 43

A ten-year-old boy is referred for assessment of hypermobile and aching joints. He has no history of joint dislocations and is otherwise well. On examination he has moderate generalised hypermobility affecting large and small joints. His height is on the 97th percentile. His arm span: height ratio is 1.04 [\<1.05] and his upper segment: lower segment ratio is normal for age. He has bilateral pes planus. Examination is otherwise normal, including eyes and cardiovascular system. The most likely diagnosis is: A. benign joint hypermobility. B. ehlers-danlos syndrome. C. homocystinuria. D. marfan syndrome. E. stickler syndrome.

Answer 43

A. benign joint hypermobility. **_Benign hypermobility syndrome_** * pain associated with hypermobility of joints * probably mild form of Ehlers-Danlos syndrome * typically pain in the evening or after increased activity * usually minimal functional loss unless unfit or unwell for long periods **_Ehlers-Danlos syndromes_** * Connective Tissue disorders * Clinical features * Normal at birth * Skin – hyperelastacitiy, fragility, easy bruising, atrophic “cigarette paper scars” * Joints – hypermobile, tendency to dislocate * Several types – assoc with premature birth (PROM), mitral valve prolapse, dissecting aortic aneurysm, bowel rupture, uterine rupture **_Homocysteinuria_** * autosomal recessive * enzyme deficiency of cystathionine synthase  homocysteine and methionine accumulation * clinically: * general – marfanoid habitus, fair hair, fair skin, blue eyes, malar flush * CNS – learning difficulties, seizures (20%) * Skeletal – osteoporosis, platyspondyly * CVS – CVAs, arterial and venous thromboembolism * Eye – lens subluxation **_Marfan syndrome_** * autosomal domiant, mutations in fibrillin gene on chromo 15q21.1 * clinical features: * skeletal – tall, thin habitus, muscle hypotonia, joint laxity, decreased upper:lower segment ratio, arachnodactyly, pes planus, pectus excavatum, scoliosis, kyphosis, high arched palate * eyes – upward lens subluxation, myopia, retinal detachment * CVS – dilatation of ascending aorta, dissecting aortic aneurysm, mitral valve prolapse **_Stickler syndrome_** * group of autosomal dominant disorders with type II collagen defect * marfanoid habitus, hyperextensible joints, enlargement of large joints * retinal detachment, myopia, deafness, cleft palate * XR – dumbbell shaped long bones * Early severe degenerative OA of hips and knees

Question 44

Which of the following conditions is most commonly associated with Tourette syndrome? A. Conduct disorder. B. Depression. C. Generalised anxiety disorder. D. Intellectual disability. E. Obsessive compulsive disorder.

Answer 44

E. Obsessive compulsive disorder.

Question 45

A nine-month-old boy has the following immunoglobulin profile: A history of which of the following infections would be most consistent with his underlying immune defect? A. Disseminated varicella infection. B. Persistent oral thrush. C. Recurrent otitis media with discharge. D. Recurrent perianal abscess. E. Staphylococcal pneumonia.

Answer 45

C. Recurrent otitis media with discharge. **_X-linked agammaglobulinaemia_** * most boys well until 6-9mo (maternal IgG) then acquire infections with extracellular pyogenic organisms (Strep pneumoniae, Hib) unless given prophylactic antibiotics or IVIg therapy * infections – sinusitis, OM, pneumonia, sepsis, meningitis (less common) * also Mycoplasma, chronic fungal infections, Pneumocystis jiroveci pneumo RARE * viral infections handled normally except hepatitis viruses and enteroviruses * rarely: paralysis with live polio vaccine, CNS infections with echoviruses and coxsackieviruses, echovirus-associated myositis resembling dermatomyositis * growth hormone deficiency can occur * suspect if lymphoid hypoplasia on physical exam (no tonsils or lymph nodes) and serum conc of IgG, IgA, IgM and IgE are far below 95th CI with total Ig \<100mg/dL

Question 46

In children with immunodeficiency, the purpose of routine irradiation of administered blood products is to decrease the risk of: A. Alloimmunization. B. Cytomegalovirus (CMV) infection. C. Graft-versus-host disease. D. Transfusion related acute lung injury (TRALI). E. Variant Creutzfeld-Jakob disease (vCJD).

Answer 46

C. Graft-versus-host disease.

Question 47

A six-year-old boy is referred for assessment of progressive unsteadiness of gait over the preceding year. Prior to the onset, his mother recalls that he had chicken pox. In other respects he has been well and there is no family history of similar problems. His examination was significant for gait ataxia and dysmetria. A photograph of his eye is shown below. Which of the following investigations would be expected to be abnormal? A. Alpha- fetoprotein. B. Copper and caeruloplasmin. C. Lysosomal enzymes. D. Uric acid. E. Vitamin E.

Answer 47

A. Alpha- fetoprotein. The photograph shows oculocutaneous telangiectasias. This, combined with the history of progressive ataxia makes ataxia-telangiectasia most likely. The telangiectasias are seen on the bulbal conjunctiva, over the bridge of the nose, on the ears and exposed surfaces of the extremities. Lab findings include elevated levels of alpha feto-protein, increased incidence of chromosome breaks, and decreased IgA, IgG 2 and 4, and IgE levels (in \>50% of patients). Children have a 50-100 times increased risk of lymphoreticular tumours, and death results from infection or tumour dissemination. Ataxia begins approx age 2 and progresses to loss of ambulation by adolescence. Reference: Nelson’s 19th edition, pages 735, 2055

Question 48

A six-month-baby presents with an inguinal hernia and on examination is found to have gonads palpable in the inguinal canal. The external genitalia appear to be female. The baby’s karyotype is XY. Other investigations show elevated testosterone and low levels of dihydrotestosterone. Which of the following is the most likely diagnosis? A. 5-alpha reductase deficiency. B. Androgen insensitivity. C. Congenital adrenal hyperplasia. D. Testicular biosynthetic disorder. E. True hermaphroditism.

Answer 48

A. 5-alpha reductase deficiency. 5a-reductase converts testosterone to DHT. DHT is a potent androgen necessary for development of male external genitalia. Androgen insensitivity would have high testosterone and DHT as is receptor problem not synthesis problem (vs 5a-reductase deficiency).

Question 49

What is the prefered pharmacological treatment for attention deficit hyperactivity disorder in children with comorbid intellectual disability? A. Clonidine. B. Fluoxetine. C. Haloperidol. D. Methylplenidate. E. Risperidone.

Answer 49

D. Methylplenidate.

Question 50

A six-year-old girl presents to the emergency department with a persistent headache and dizziness following a minor fall one week previously in which there was no loss of consciousness. She has had several vomits today and feels unwell. On examination, she is afebrile with a respiratory rate of 24/minute, a heart rate of 110/minute and a blood pressure of 96/55 mmHg. She is pale and quiet but able to respond appropriately to questions and commands. There are no focal neurological signs. Her non-contrast computed tomography (CT) scan of the head is shown below. Which of the following is the most likely diagnosis? A. Extradural haematoma. B. Intracerebral haemorrhage. C. Meningioma. D. Subarachnoid haematoma. E. Subdural haematoma.

Answer 50

A. Extradural haematoma.

Question 51

You are called to a regional centre to retrieve a term infant who became unwell at 20 hours of age with tachycardia, mild respiratory distress, poor peripheral pulses and cyanosis. The chest X-ray shows cardiomegaly and increased pulmonary vascular markings. Hypoplastic left heart syndrome is suspected. The infant failed a hyperoxic test and is managed with ventilation in 70% oxygen and a prostaglandin infusion. Oxygen saturation is 89% and the initial blood gas shows a PCO2 of 40 [35-42] with a significant metabolic acidosis. Prior to transfer the most appropriate step would be to: A. decrease inspired oxygen. B. decrease ventilation rate. C. increase inspired oxygen. D. increase ventilation rate. E. leave ventilation settings unchanged.

Answer 51

A. decrease inspired oxygen.

Question 52

A six-month-old Samoan boy presents to his General Practitioner with a five day history of irritability and reduced movement of his left leg. His mother reports an incident one week previously when she slipped and fell while carrying him. On examination he is afebrile, crying and not moving his left leg. A soft tissue injury is diagnosed and simple analgesia recommended. Three weeks later he presents to the Emergency Department. He has remained irritable and is still not moving his leg. He is flexed at the hip and slightly externally rotated. There is pain on passive extension of the left knee. The leg is swollen, warm to touch and tender to palpation. He remains afebrile. A plain X-ray of the left femur and tibia is shown below. The most likely diagnosis is: A. inflicted injury. B. osteoid osteoma. C. osteomyelitis. D. pathological fracture. E. septic arthritis.

Answer 52

C. osteomyelitis.

Question 53

A ten-year-old boy noted to have an interscapular bruit and reduced femoral pulses is diagnosed with coarctation of the aorta. The coarctation is repaired by end-to-end anastomosis. The most common long-term complication is: A. aneurysmal dilation at repair site. B. bacterial endocarditis. C. restenosis of the coarctation repair. D. rupture of congenital aneurysm of Circle of Willis. E. systemic hypertension.

Answer 53

E. systemic hypertension. Recoarctation occurs in 5-14%

Question 54

A three-year-old boy is referred with a history of loud snoring every night for the past nine months. His mother has not noted apnoeic pauses. On examination his tonsils are grade three in size (moderate), moderate adenoidal hypertrophy is noted on a lateral neck X-ray but the post nasal space is patent. A polysomnogram shows an obstructive apnoea/hypopnoea index of 10 events/hour [less than 1] and an arousal index of 20/hour [less than 10], with a minimum oxygen saturation of 90%. The most appropriate management of this child is: A. adenotonsillectomy. B. continuous positive airway pressure. C. montelukast. D. supplemental oxygen. E. topical nasal steroids.

Answer 54

A. adenotonsillectomy.

Question 55

A seven-year-old girl had a bone marrow transplant for high risk acute lymphoblastic leukaemia six months ago. Recent testing showed 100% donor cells on chimerism studies and mild lymphopaenia (lymphocytes 1.1 [1.5-5.5]) with an otherwise normal blood count. She completed cyclosporin treatment two weeks ago and is clinically well. Unfortunately, her return to school yesterday was complicated by contact with a classmate who developed a typical chicken pox (varicella) rash this morning. Her parents phone for advice. Which of the following is the most appropriate intervention to recommend? A. Intramuscular zoster immunoglobulin. B. Intravenous aciclovir. C. Intravenous pooled human immunoglobulin (Intragam). D. Oral aciclovir. E. Varicella vaccine.

Answer 55

A. Intramuscular zoster immunoglobulin. Children who are receiving chemo and who are exposed to chickenpox should receive VZIG If chickenpox develops, should be admitted and treated with IV acyclovir. Do NOT give live virus vaccines (eg varicella)

Question 56

A clinically well child with the dysmorphic features shown in the photograph below presents with a loud ejection systolic murmur. * saturation - pressure * superior vena cava 64% * right atrium 62% - 9/6 (mean 8) * right ventricle 62% - 51/7 * main pulmonary artery 62% - 51/15 (mean 35) * distal left pulmonary artery 62% - 12/9 (mean 11) * distal right pulmonary artery 62% 14/9 (mean 12) * left ventricle 98% - 66/8 * descending aorta 98% - 70/40 (mean 53) Which of the following is the most likely diagnosis? A. Alagille syndrome. B. Congenital rubella syndrome. C. Noonan syndrome. D. Velocardiofacial syndrome. E. Williams syndrome

Answer 56

A. Alagille syndrome. Branch pulmonary artery stenosis (high RV and main pulm artery pressures) **_Alagille syndrome_** – pulmonary stenosis, branch pulmonary artery stenosis **_Congenital rubella syndrome_** – PDA **_Noonan syndrome_** – pulmonary stenosis **_Velocardiofacial syndrome_**/DiGeorge - cardiac are conotruncal defects – ToF, TA, DORV, subarterial VSD – and branchial arch defects (CoA, interrupted aortic arch, right aortic arch) **_Williams syndrome_** – supravalvular aortic stenosis, branch pulmonary artery stenosis **_Turner syndrome_** – coarctation of aorta **_VACTERL_** – vertebral, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, radial/renal anomalies, limb defects – mostly VSD, ASD and tetralogy of Fallot (TA and TGA less common)

Question 57

A man is diagnosed with a rare autosomal recessive disorder. His pedigree is shown below. What is the best estimate of the risk of his cousin (indicated on the diagram by an arrow) developing the same disorder? A. 1/2. B. 1/4. C. 1/8. D. 1/16. E. 1/32.

Answer 57

D. 1/16. IIA is carrier and has ½ risk of transmission to child, therefore IIB has ½ risk, which is same for IIC and IID Therefore risk is IIB x IID x ¼ (as autosomal recessive) = ½ x ½ x ¼ = 1/16

Question 58

The most frequent clinical feature due to insulin resistance in obese female children and adolescents with type 2 diabetes is: A. abdominal striae. B. acanthosis nigricans. C. hepatomegaly due to steatohepatitis. D. hirsutism. E. tinea cruris.

Answer 58

B. acanthosis nigricans.

Question 59

A six-month-old girl is referred to the outpatient clinic for assessment of delayed development. She will not reach, sit unsupported or roll. She weighs 7.6 kg (50th-75thpercentile), and measures 67cm in length (50th%). Her head circumference is 41 cm (25th%). Her head and facial appearance is shown below. The most likely reason for this appearance is: A. coronal synostosis. B. deformational plagiocephaly. C. lambdoid synostosis. D. metopic synostosis. E. sagittal synostosis.

Answer 59

D. metopic synostosis.

Question 60

A four-week-old breast-fed infant presents with a one week history of persistent rectal bleeding. The infant has passed three to four mustard coloured stools per day, containing some mucus and streaks of bright red blood. Defaecation is often associated with increased straining and unsettled behaviour. The infant is otherwise well and thriving. What is the most likely diagnosis? A. Allergic proctocolitis. B. Anal fissure. C. Bacterial gastroenteritis. D. Juvenile polyp. E. Necrotising enterocolitis.

Answer 60

A. Allergic proctocolitis.

Question 61

A 12-year-old girl who emigrated from Zimbabwe 18 months ago presents with a three month history of recurrent painless terminal gross haematuria. Several mid stream urine specimens show a large number of red cells, white cells 100-500 per cm3 and 2+ protein on dipstix but there was no significant bacteria growth. Renal function is normal as is renal ultrasound. Urine microcopsy shows the following: What is the most likely diagnosis? A. Calculus. B. Giardia lambia. C. Mycobacterium tuberculosis. D. Plasmodium falciparum. E. Schistosomia haematobium infection.

Answer 61

E. Schistosomia haematobium infection. Urinary schistosomiasis: Dysuria, urinary frequency, and terminal hematuria occur.

Question 62

A nine-year-old boy presents to emergency with gross haematuria. His investigation results include: Persistence of which of the following at three months is most useful in differentiating mesangiocapillary from post-streptococcal glomerulonephritis? A. Low C3. B. Low C4. C. Negative throat swab. D. Low IgA. E. Raised ASOT.

Answer 62

A. Low C3.

Question 63

A six-year-old boy had a renal transplant from his mother six months ago. Both the donor and recipient were negative for cytomegalovirus. He develops an intercurrent illness with fever and non specific aches and pains. There has been no documented history of acute rejection during the course of his transplant. On examination, his temperature is 38.8C, blood pressure 105/60; he is well perfused and is otherwise well. His pharynx is slightly inflamed, but no pus is visible. Initial blood tests show stable renal function and normal white cell count. What is the most likely cause for his infection? A. BK virus. B. Cytomegalovirus. C. Ebstein Barr virus. D. Parainfluenza virus. E. Pneumocystis jirovpci.

Answer 63

D. Parainfluenza virus.

Question 64

A four-year-old boy who was hospitalised for asthma is incidentally found to have a serum creatinine of 70umol/L [30-70]. Blood pressure is 120/78. Urine sediment is normal except for 2+ of protein on dipstix testing. Renal ultrasound shows two small slightly echogenic kidneys suggestive of renal hypodysplasia. On follow up he is shown to be persistently hypertensive. The most appropriate therapy for his hypertension is: A. angiotensin converting enzyme inhibitor. B. beta adrenergic receptor blocker. C. calcium channel blocker. D. loop diuretic. E. thiazide diuretic.

Answer 64

A. angiotensin converting enzyme inhibitor.

Question 65

A three-month-old baby presents with increasing left thigh swelling over the past week, pallor and irritability. As part of his assessment, the following results are obtained: Which of the following is the most likely cause of his thigh swelling? A. Haemangioma. B. Haematoma. C. Lymphangioma. D. Necrotising fasciitis . E. Rhabdomyosarcoma.

Answer 65

A. Haemangioma. **_Kasabach-Merritt syndrome_** – haemangioma with thrombocytopaenia, microangiopathic haemolytic anaemia and acute or chronic consumption coagulopathy Film – fragments, spherocytes, small round cells D-dimer – fibrin degradation product (FDP) – break down of clot

Question 66

A four-month-old infant is referred from a refugee centre for assessment of a neck lump, present since birth. He is feeding well and gaining weight normally. On examination there is a 1 cm x 1 cm mass in the anterior neck; overlying skin is red and warm. A thick discharge is expressed from the lesion. A photograph of the lesion is shown below. The most likely diagnosis is: A. branchial cleft remnant. B. cystic hygroma. C. mycobacteria avium complex. D. thyroglossal cyst. E. tuberculosis.

Answer 66

D. thyroglossal cyst.

Question 67

A 14-year-old boy presents with a nine month history of persistent feelings of sadness, anhedonia and initial insomnia. His parents report that he has been irritable lately, and spending a lot of time alone in his room. He has been attending school, and although he reports lack of concentration his academic achievement has not changed. His mother has had intermittent depression and has been successfully treated with fluoxetine in the past. Which of the following treatments has the best evidence of efficacy for treatment of mild depression? A. Cognitive behaviour therapy. B. Family therapy. C. Fluoxetine. D. Psychodynamic psychotherapy. E. St John’s Wort.

Answer 67

A. Cognitive behaviour therapy.

Question 68

A 36-week-male infant has a focal seizure at two days of age. Investigation of this seizure included the following diffusion weighted magnetic resonance image of the brain on Day three: Which of the following neurological conditions is this child most likely to develop? A. Ataxic cerebral palsy. B. Choreoathetoid cerebral palsy. C. Spastic diplegia. D. Spastic hemiplegia. E. Spastic quadriplegia.

Answer 68

D. Spastic hemiplegia. MRI shows acutely infarcted area. Unilateral lesion in MCA territory, affecting contralateral arm, hand and face. Causes spastic hemiplegia.

Question 69

A 13-year-old girl presents to her paediatrician with a four month history of progressive weakness. The weakness is diffuse and she complains of inability to run, and climb stairs. She frequently falls. Her examination shows diffuse 3/5 weakness in her peripheries, absent reflexes with downgoing toes. She has no cranial nerve abnormalities. Sensory examination reveals a symmetrical glove and stocking distribution of altered touch. Nerve conduction studies show markedly slowed nerve conduction velocities and conduction block. The most likely diagnosis is: A. chronic inflammatory demyelinating polyneuropathy. B. dermatomyositis. C. Guillain-Barré syndrome. D. hereditary motor sensory neuropathy. E. myasthenia gravis.

Answer 69

A. chronic inflammatory demyelinating polyneuropathy. Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) * Symmetric * Motor involvement \> sensory. * Weakness of both proximal and distal muscles, .....this pattern is a hallmark of acquired demyelinating polyneuropathy. Also... * Cranial nerve and bulbar involvement occur in 10 to 20 percent of patients. * Globally diminished or absent reflexes * Sensory impairment in CIDP is usually greater for vibration and position sense than for pain and temperature sense, reflecting the involvement of larger myelinated fibers. **_Guillain-Barré syndrome_** * Postinfectious (10 days post non specific viral infxn) polyneuropathy involving mainly motor but sometimes also sensory and autonomic nerves. * Gradual, progressive weakness over days to weeks. * Ascending paralysis * Weakness can progress to inability or refusal to walk and later to flaccid tetraplegia. * Symmetric weakness with diminished or absent reflexes. Minimal loss of sensation occurs, despite paresthesias.Variable initial physical findings can render making an early diagnosis difficult. Examples of less common signs include predominant proximal weakness, hyperreflexia with extensor plantar response, and sphincter disturbances that raise concerns about a spinal cord lesion. **_Hereditary Motor Sensory Neuropathy_** * a group of progressive diseases of peripheral nerves. Motor components generally dominate the clinical picture, but sensory and autonomic involvement is expressed later. * Charcot-Marie-Tooth Disease is most common. Autosomal dominant. * Most patients are asymptomatic until late childhood or early adolescence, but young children sometimes manifest gait disturbance as early as the 2nd year of life. The peroneal and tibial nerves are the earliest and most severely affected. Children with the disorder are often described as being clumsy, falling easily, or tripping over their own feet. * Wasting of muscles of anterior compartment of lower leg lead to characteristic stork-like contour. * Pes cavus deformities develop due to denervation of intrinsic foot muscles. **_Myasthenia Gravis_** * chronic disease characterized by rapid fatigability of striated muscle. * Autoimmune disorder which is generally not hereditary, but some familial forms exist. * Three clinical varieties are distinguished in childhood: juvenile myasthenia gravis in late infancy and childhood, congenital myasthenia, and transient neonatal myasthenia. * Rapid fatigue of muscles is a characteristic feature of myasthenia gravis that distinguishes it from most other neuromuscular diseases. * Left untreated, myasthenia gravis is usually progressive and can become life threatening because of respiratory muscle involvement and the risk of aspiration, particularly at times when the child is otherwise unwell with an upper respiratory tract infection. Familial myasthenia gravis usually is not progressive.

Question 70

A 30-year-old woman, treated successfully in her teens for osteosarcoma, develops striking dyspnoea during her first pregnancy. Investigation reveals she has a cardiomyopathy with cardiac failure. Which of the following is likely to be the cause of this? A. Cisplatin. B. Doxorubicin. C. Ifosfamide. D. Methotrexate. E. Radiotherapy.

Answer 70

B. Doxorubicin. Doxorubicin (Adriamycin) and daunorubicin (Cerubidine) have side effects of: nausea, vomiting, cardiomyopathy, red urine, tissue necrosis on extravasation, myelosuppression, conjunctivitis, radiation dermatitis, arrhythmia

Question 71

A four-year-old boy has global developmental delay. He has a past history of severe gastro- oesophageal reflux in infancy. His facial appearance and the appearance of his hands are shown below. What is the most likely diagnosis? A. Cornelia de Lange syndrome. B. Fanconi anaemia. C. Mosaic trisomy 8. D.Rubenstein-Taybi syndrome. E. Williams syndrome.

Answer 71

A. Cornelia de Lange syndrome. **_Cornelia de Lange_** * IUGR, prematurity, weak cry, hypotonic in infancy, respiratory and feeding difficulties, 90% GORD, developmental delay and mental retardation, seizures, behavioural probs * Short stature, microcephaly Facial features These are perhaps the most diagnostic of all the physical signs and combine to create a unique gestalt for the clinician. This combination of findings may be absent in postpubertal male patients. The following are classic features: * Confluent eyebrows (synophrys) (99%) * Long curly eyelashes (99%) * Low anterior and posterior hairline (92%) * Underdeveloped orbital arches (100%) * Neat, well-defined, and arched eyebrows (as though they had been penciled) * Long philtrum * Anteverted nares (88%) * Down-turned angles of the mouth (94%) * Thin lip (especially upper vermillion border) * Low-set and posteriorly rotated ears * Depressed nasal bridge (83%) * High arched palate (86%) and overt or submucous cleft palate (20%) * Late eruption of widely spaced teeth (86%) * Micrognathia (84%) * Short neck (66%) * Hirsutism (78%) * Severe abnormalities, such as **oligodactyly (missing digits)** or other deficiencies of the arms, may be present (27%).

Question 72

A four-week-old male infant presents with a left-sided chylothorax following aortic coarctation repair. The chylothorax responded well to drainage and total parenteral nutrition. Oral feeds are recommended. Which of the following nutrients should be avoided to prevent re-accumulation of the effusion? A. Carbohydrates. B. Cholesterol. C. Long chain triglyceride. D. Medium chain triglyceride. E. Protein.

Answer 72

C. Long chain triglyceride.

Question 73

A 13-year-old girl who has a body mass index (BMI) of 31kg/m2 [95th centile for age and sex = 28kg/m2], is investigated for obesity. Her periods are irregular and she has a family history of diabetes. On examination she has acanthosis nigricans of the neck and the axillae. Investigations are shown. The most likely cause of these findings is: A. gallstones. B. non-alcoholic fatty liver disease. C. polycystic ovary disease. D. type 2 diabetes mellitus. E. viral hepatitis.

Answer 73

B. non-alcoholic fatty liver disease.

Question 74

A ten-year-old boy presents to the Emergency Department with fever, headache, neck stiffness and a purpuric rash. Gram negative diplococci are seen on Gram stain of the cerebrospinal fluid. The boy lives at home with his parents and two younger siblings. His mother is pregnant. Which of the following should be given to the mother for prophylaxis? A. Ceftriaxone. B. Ciprofloxacin. C. Meningococcal vaccine. D. Penicillin. E. Rifampicin.

Answer 74

A. Ceftriaxone.

Question 75

A 21/2-year-old boy is brought to the hospital because his parents are worried about unexplained bruising which has appeared around his right eye over the past few days. He is pale and miserable, and is reluctant to walk. A fullness is palpable in the right upper quadrant of his abdomen. Coagulation studies are normal. The most likely diagnosis is: A. acute lymphoblastic leukaemia. B. acute myoloid leukaemia. C. Gaucher disease. D. inflicted injury. E. neuroblastoma.

Answer 75

E. neuroblastoma. Neuroblastoma: signs of mets incl fever, irritability, FTT, bone pain, bluish subcutaneous nodules, orbital proptosis, periorbital ecchymoses Not AML or ALL (only anaemia, other bloods okay) Gaucher disease: multisystemic lipidosis characterized by haematological probs, organomegaly, skeletal involvement (bone pain and pathological fractures) – lysosomal storage disease * bruising from thrombocytopaenia, anaemia, hepatomegaly, splenomegaly, bone pain * reasonable differential for unexplained organomegaly, bruise easily, bone pain

Question 76

An eight-year-old boy on chronic peritoneal dialysis presents to the local hospital emergency department with an eight hour history of vomiting and a low grade fever. On examination he looks mildly oedematous, temperature 37.8C, BP 130/85. No abdominal tenderness is found. His weight is 1kg above his usual baseline. His mother said that her son’s dialysis fluid was clear that morning. The next most appropriate investigation is: A. abdominal ultrasound. B. abdominal X-ray. C. microscopy and culture peritioneal dialysis fluid. D. serum electrolytes and creatinine. E. urine microscopy and culture of urine.

Answer 76

C. microscopy and culture peritioneal dialysis fluid.

Question 77

A seven-year-old child with delayed language development, aggressive behaviour and seizures is brought to see you for evaluation. His mother is concerned about the increasing size of a “birth mark” on his abdomen which is shown below. What other findings are you most likely to find on clinical examination? A. Adenoma sebaceum. B. Axillary freckling. C. Café au lait spots. D. Shagreen patch. E. Ungual fibroma

Answer 77

A. Adenoma sebaceum. The image shows a hypopigmented lesion seen in Tuberous Sclerosis Complex. Adenoma sebaceum are angiofibromas which develop over nose and cheeks at 4-6 years of age and are often confused with acne. A shagreen patch is also characteristic of TSC and consists of a roughened, raised lesion with an orange-peel consistency located primarily in the lumbosacral region. During adolescence or later, small fibromas or nodules of skin may form around fingernails or toenails in 15-20% of the TSC patients. Cafe au lait and axillary freckling are skin lesions in neurofibromatosis

Question 78

An autistic child treated with clonidine and risperidone presents with a fever of 38°C and myalgia. Investigations show an elevation creatine kinaese. What is the most likely diagnosis ? A. Clonidine overdose. B. Dystonic reaction. C. Malignant hyperpyrexia. D. Neuroleptic malignant syndrome. E. Serotonin syndrome.

Answer 78

D. Neuroleptic malignant syndrome. **_Neuroleptic malignant syndrome_** (NMS) is a life- threatening neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. It generally presents with muscle rigidity, fever, autonomic instability[1] and cognitive changes such as delirium, and is associated with elevated creatine phosphokinase (CPK). The first symptom to develop is usually muscular cramps, fever, symptoms of instability of the autonomic nervous system such as unstable blood pressure, and changes in cognition, including agitation, delirium and coma. Other symptoms may include muscle tremors. Once symptoms do start to appear, they rapidly progress and can reach peak intensity in as little as three days. These symptoms can last anywhere from eight hours to forty days.[

Question 79

A 16-year-old boy presents with vague but increasing knee pain over the past two months. An X-ray is performed and shown below. What is the most likely diagnosis? A. Aneurysmal bone cyst. B. Eosinophilic granuloma. C. Ewing sarcoma. D. Osteochondroma. E. Osteosarcoma.

Answer 79

E. Osteosarcoma. Sclerotic instead of lytic (Ewing’s, eosinophilic granuloma (usu skull), bone cyst), osteochondroma projects away from joint

Question 80

Attention Deficit Hyperactivity Disorder (ADHD) is associated with a number of co-morbid conditions. The most frequently associated condition is: A. anxiety disorders. B. dysthymia. C. language disorders. D. oppositional defiant disorder. E. tic disorder.

Answer 80

D. oppositional defiant disorder.

Question 81

The APGAR score is assigned at one and five minutes of age as a summary measure of an infant's transition to extrauterine life. In addition to heart rate and respiratory effort, the three parameters that are assessed are: A. capillary return, colour, reflex irritability. B, capillary return, cry, colour. C. colour, tone and reflex irritability. D. cry, colour, tone. E. tone, cry, reflex irritability.

Answer 81

C. colour, tone and reflex irritability.

Question 82

A six-year-old boy with Down syndrome presents to your practice with persistent diarrhoea for the past four weeks. Stool microscopy reveals the following findings: What is the most likely diagnosis? A. coeliac disease. B. cow's milk enteropathy. C. crohn disease. D. infectious colitis. E. lactose intolerance.

Answer 82

A. coeliac disease.

Question 83

A previously well six-year-old boy presents with fever and headache. A CT scan of his brain is shown below. Which of the following is the most appropriate empiric antibiotic regimen? A. Ampicillin plus Gentamicin. B. Cefotaxime plus Gentamicin. C. Cefotaxime plus Metronidazole. D. Metronidazole plus Gentamicin. E. Vancomycin plus Gentamicin.

Answer 83

C. Cefotaxime plus Metronidazole. Gentamicin doesn’t cross BBB Aminoglycosides are distributed well into ECF except for vitreous humor, CSF, respiratory secretions, and bile (particularly in patients with biliary obstruction). Oral metronidazoleis absorbed well. It is usually given IV only if patients cannot be treated orally. It is distributed widely in body fluids and penetrates into CSF, resulting in high concentrations. The only cephalosporins that reach CSF levels high enough to treat meningitis are * Ceftriaxone * Cefotaxime * Ceftazidime * Cefepime All cephalosporins penetrate poorly into ICF and the vitreous humor. Vancomycin is not appreciably absorbed from a normal GI tract after oral administration. Given parenterally, it penetrates into bile and pleural, pericardial, synovial, and ascitic fluids. However, penetration into even inflamed CSF is low and erratic.

Question 84

Side effects of topical pimecrolimus, used as second line treatment in atopic eczema, include all of the following except: A. burning. B. desquamation. C. folliculitis. D. pruritis. E. skin atrophy.

Answer 84

E. skin atrophy. _Common_ local irritation, burning sensation, itch, erythema, skin infections _Infrequent_ local rash, aggravation of eczema, herpes simplex dermatitis, impetigo ``` _Rare_ alcohol intolerance (facial flushing, rash, burning sensation), allergy (eg urticaria, angioedema), rosaceiform dermatitis ```

Question 85

A 15-year-old girl presented with her parents to the Emergency Department of her local hospital. She was a reluctant attendee and did not volunteer any information. Her parents reported increasing concerns regarding her withdrawal into her room, and reluctance to attend school. She spent a great deal of time on the internet or computer. She had withdrawn from friends. Her parents believed that she was not sleeping properly. At interview, she was a thin girl who appeared anxious, she was guarded, spoke with her head bowed, mumbling “I don’t know” answers to direct questioning. There were superficial laceration to her forearms and thighs. Her physical examination was otherwise unremarkable. Full blood examination (FBE), thyroid stimulating hormone (TSH), and electrolytes were normal. Urine drug screen was positive for cannabinoids. What is the most likely diagnosis? A. Anorexia nervosa. B. Cannabis induced psychosis. C. Conduct disorder. D. Depression disorder. E. Social phobia.

Answer 85

D. Depression disorder.

Question 86

A full-term 4.6kg male infant has recurrent dusky episodes commencing eight hours after a difficult vaginal delivery complicated by mild shoulder dystocia following prolonged rupture of membranes. APGAR scores were six at one minute and nine at five minutes and he was given brief bag and mask ventilation to improve his colour. He is sleepy and has not fed well for the past five hours. On examination, he has a suffused face, no respiratory distress or heart murmurs and a normotensive fontanelle. His blood glucose level is 4.0 mmol/litre and as part of a septic work-up he has a lumbar puncture which gave the following CSF (cerebrospinal fluid) results: Volume: 2mls Appearance: Bloodstained Gram Stain: No organisms seen Chemistry: * Glucose 2.9mmol/litre * Protein 1000gm/litre The most likely cause for these findings is: A. herpes simplex encephalitis. B. meningitis. C. subarachnoid haemorrhage. D. subdural haematoma. E. traumatic lumbar puncture.

Answer 86

C. subarachnoid haemorrhage.

Question 87

A ten-year-old boy is referred to your clinic because of possible hypertension. There is no relevant past medical history. On examination he looks well, but is overweight. He is pre-pubertal and his blood pressure is 144/90. Several clinic measurements show his blood pressure to be between 134/80 – 150/88. Mid stream urine specimens show only a trace to 1+ of protein. Renal ultrasound including Doppler studies are normal. The next most appropriate investigation is: A. ambulatory blood pressure monitoring. B. echocardiogram. C. plasma cortisol. D. renal arteriogram. E. renal biopsy.

Answer 87

A. ambulatory blood pressure monitoring.

Question 88

A two-week-old infant presents with poor feeding and tachypnoea. His oxygen saturation in room air is 89%. He has full volume brachial and femoral pulses. The first heart sound is normal and the second heart sound is loud and single. A grade 3/6 systolic murmur, which is ejection in quality, is heard at the left sternal edge. An apical mid-diastolic rumbling murmur is audible. Hepatomegaly is present. His ECG is shown below.  The most likely diagnosis is: A. atrioventricular septal defect. B. severe pulmonary stenosis. C. tetralogy of Fallot. D. truncus arteriosus. E. ventricular septal defect.

Answer 88

D. truncus arteriosus. Key features of truncus: enlarged heart, hyperdynamic praecordium, 2nd heart sound loud and single, ejection systolic murmur frequently preceded by ejection click, early diastolic decresendo murmur if truncal valve insufficiency, apical mid diastolic rumbling murmur caused by increased flow through mitral valve. All pulses bounding. AVSD - Multiple different types of murmurs. Severe pulmonary stenosis - Systolic murmur TOF - First heart sound normal, second heart sound single because pulmonary component rarely heard. VSD - Harsh systolic ejection murmur from RV outflow obstruction, not VSD.

Question 89

A 14-year-old girl presents with concerns about her growth. Her height is 2cm below the first height centile and 20cm below her measured midparental height. On examination her breast development is Tanner stage 1, and the rest of her examination is normal. Which of the following is the most likely cause for her short stature? A. Delayed puberty. B. Familial short stature. C. Growth Hormone deficiency. D. Hypothyroidism. E. Intra-uterine growth retardation.

Answer 89

A. Delayed puberty

Question 90

A two-year-old boy presents with a four week history of persistent diarrhoea and mild weight loss. He has recently commenced childcare. Stool microscopy and biochemistry reveal the following: Which of the following is the most likely diagnosis? A. Bacterial gastroenteritis. B. Coeliac disease. C. Cryptosporidiosis. D. Lactose intolerance. E. Viral gastroenteritis.

Answer 90

B. Coeliac disease.

Question 91

A nine-month-old boy is seen in clinic with an eight week history of an itchy rash. Reddish-brown macules and papules are noted on his trunk and back as shown in photo one. He takes prophylactic cotrimoxazole for high grade vesicoureteric reflux but is otherwise well. On examination, it is noted that stroking the lesions leads to erythema of the surrounding skin as shown below in photo two. The most likely diagnosis is: A. chronic urticaria. B. drug reaction. C. insect bites. D. scabies. E. urticaria pigmentosa.

Answer 91

E. urticaria pigmentosa. Urticaria pigmentosa is the name given to a type of mastocytosis, in which there are brown patches on the skin due to abnormal collections of mast cells. Mast cells are normally widely distributed in the skin. They contain granules that contain histamine and other chemicals. When the mast cell is disturbed, these chemicals are released into the surrounding skin. The chemicals make the blood vessels leaky, resulting in localised itching, swelling and redness. **_In children_** Urticaria pigmentosa most often affects infants, with the first patches appearing at a few months of age. They are often confused with insect bites at first, but persist and gradually increase in number for several months or years. They can appear on any part of the body including the scalp, face, trunk and limbs. In young children, it is common for the patches to blister when rubbed. If many patches are activated at the same time the infant may become irritable but is uncommon for severe symptoms to arise. Over the next few years the urticaria pigmentosa becomes less irritable and eventually the patches fade away. By the teenage years, most patches will have gone. **_Darier sign_** One can demonstrate the presence of mast cells by rubbing one of the brown patches. Within a few minutes, the rubbed area becomes reddened, swollen and itchy. This is known as Darier sign, and confirms the presence of mastocytosis. **_Precautions_** * Exercise or heat can aggravate symptoms. A severe reaction can result in flushing and faintness. * Certain medications can cause mast cell degranulation and should be avoided if there is extensive urticaria pigmentosa. These include: * Aspirin (salicylates) and other nonsteroidal anti-inflammatory drugs * Codeine and morphine (narcotics) * Alcohol * Anticholinergics

Question 92

A ten-year-old girl presents with a three month history of chronic dry cough day and night without wheezing. It is aggravated by exercise and cold air. Baseline chest X-ray and lung function are normal. What is the most likely diagnosis? A. Cough variant asthma. B. Non specific cough. C. Psychogenic cough. D. Primary ciliary dyskinesia. E. Tracheomalacia.

Answer 92

B. Non specific cough. PCD – wheezing, chronic loose productive cough, longstanding problem Tracheomalacia – too old, wheeze is symptom not cough Psychogenic – not at night when asleep

Question 93

A 12-year-old boy with a past history of allogeneic bone marrow transplantation (BMT) for severe aplastic anaemia is on cyclosporin and prednisone for active extensive chronic graft-vs-host disease (GVHD). He presents to emergency with a high fever. The following investigations were performed: His blood film shows Howell-Jolly bodies. Which one of the following organisms is most likely responsible for his clinical presentation? A. Escherichia coli. B. Pseudomonas aeruginosa. C. Staphylococcus aureus. D. Streptococcus pneumoniae. E. Streptococcus viridans.

Answer 93

D. Streptococcus pneumoniae. Howell-Jolly bodies seen with functional asplenia therefore encapsulated organism more likely to cause pathology. Strep pneumo is known to cause pathology in hypospenism. Some encapsulated bacteria include: * Haemophilus influenzae type b (Hib) * Streptococcus pneumoniae (pneumococcus) * Neisseria meningitidis (meningococcus) * Group B streptococcus (GBS) * Klebsiella pneumoniae * Salmonella typhi

Question 94

A ten-year-old boy is investigated for excessive day time sleepiness. He sleeps 11 hours per night and snores most nights. He wakes frequently at night and calls out to his mother. He describes periods of being not being able to move in bed as though he is paralysed. He occasionally falls to the ground when laughing. The most likely diagnosis is: A. atonic epilepsy. B. narcolepsy. C. nocturnal epilepsy. D. obstructive sleep apnoea. E. parasomnia.

Answer 94

B. narcolepsy.

Question 95

A five-month-old infant presented with a one week history of fever and cough. An X-ray was performed and is shown below. What is the most likely diagnosis? A. Cystic adenomatoid malformation in the left lower lobe. B. Hypoplasia of right lung. C. Left pleural effusion. D. Left lower lobe pneumonia. E. Right upper lobe collapse.

Answer 95

A. Cystic adenomatoid malformation in the left lower lobe.

Question 96

A medical student returns from his elective in rural Thailand and is hospitalised with an acute febrile illness associated with myalgias. He quickly develops hypotension, acute renal failure, interstitial pneumonitis, aseptic meningitis with associated hepatosplenomegaly and jaundice. Which one of the following is most likely to be the causative organism? A. Borrelia burgdorferi. B. Brucella melitensis. C. Leptospira interrogans. D. Plasmodium ovale. E. Schistosoma haematobium.

Answer 96

C. Leptospira interrogans. Leptospirosis is an infection caused by one of several pathogenic serotypes of Leptospira. Symptoms are biphasic. Both phases involve acute febrile episodes; the 2nd phase sometimes includes hepatic, renal, and meningeal involvement. Diagnosis is by darkfield microscopy, culture, and serologic testing. Treatment is with doxycycline or penicillin. The incubation period ranges from 2 to 20 (usually 7 to 13) days. The disease is characteristically biphasic. The septicemic phase starts abruptly, with headache, severe muscular aches, chills, fever, cough, chest pain, and, in some patients, hemoptysis. Conjunctival suffusion usually appears on the 3rd or 4th day. Splenomegaly and hepatomegaly are uncommon. This phase lasts 4 to 9 days, with recurrent chills and fever that often spikes to \> 39° C. Defervescence follows. The 2nd, or immune, phase occurs between the 6th and 12th day of illness, correlating with appearance of antibodies in serum. Fever and earlier symptoms recur, and meningitis may develop. Iridocyclitis, optic neuritis, and peripheral neuropathy occur infrequently. If acquired during pregnancy, leptospirosis, even during the convalescent period, may cause abortion.

Question 97

A three-year-old boy presents with a painful and swollen penis, as demonstrated in the photograph below. Which of the following is the most likely diagnosis? A. Balanitis. B. Cellulitis. C. Idiopathic oedema. D. Paraphimosis. E. Phimosis.

Answer 97

D. Paraphimosis.

Question 98

A two-year-old girl is assessed for recurrent fever on a three to six weekly basis for the last six months associated with cervical lymphadenopathy, sore throat, mouth ulcers and occasional arthralgia and abdominal pain. A diagnosis of periodic fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA) is made after extensive investigations. The likelihood of long term amyloidosis is closest to: A. 0%. B. 20%. C. 40%. D. 60%. E. 80%.

Answer 98

A. 0%.

Question 99

A four-year-old girl is seen in diabetes clinic. It is four months since she was diagnosed with type 1 (insulin-dependent) diabetes mellitus and coeliac disease. Her parents report marked behavioural problems and temper tantrums, associated with diabetes treatment and dietary restrictions. On examination extensive hairloss is noted as shown in the photograph above. What is the most likely diagnosis? A. Alopecia areata. B. Telogen effluvium. C. Tinea capitis. D. Traction alopecia. E. Trichotillomania.

Answer 99

A. Alopecia areata. **_Alopecia areata_** – autoimmune alopecia **_Telogen effluvium_** is a scalp disorder characterized by massive hair loss as a result of early entry of hairs into the telogen phase.[1][2] Emotional or physiological stressful events may result in an alteration of the normal hair cycle. It may be due to a variety of causes, eating disorders, fever, childbirth, chronic illness, major surgery, anemia, severe emotional disorders, crash diets, hypothyroidism, and drugs.

Question 100

A ten-month-old girl was admitted following the acute onset of generalised rash. This occurred 15 minutes after ingestion of a meal in a restaurant. Her usual diet includes cow milk based formula, fruit and vegetables, chicken, beef, rice cereal and wheat. Which of the following would be the most likely precipitant? A. Egg. B. Monosodium glutamate (MSG). C. Peanut. D. Shellfish. E. Strawberry.

Answer 100

A. Egg.