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Flashcards in 2011 B Remembered Deck (89):
1

Parvovirus B19 has a number of clinical associations. Which of the following is NOT associated with Parvovirus B19?

A. Erythema Infectiosum
B. Hydrops foetalis
C. Myocarditis
D. Aplastic crisis in association with chronic haemolytic disorders
E. Transient erythroblastopaenia of childhood

E.  Transient erythroblastopaenia of childhood

Erythema Infectiousum, fifth disease. Most common manifestation, average incubation 16d. Mild prodrome with ‘slapped-cheek’ phase1, then rash spreads to diffuse macular erythema (phase2) and resolves over 1-3w with waxing and waning.

Hydrops foetalis occurs secondary to profound foetal high-ouput cardiac failure from anaemia

Myocarditis Yes but rare. Foetal myocardium expresses P antigen, hence so dangerous in utero.

Aplastic crisis - absolutely. Think: sickle, thalassaemia, HS and pyruvate kinase deficiency. They tend to get a more severe sickness (unlike EI, not that unwell). Also, the incubation period is shorter in these patients.

Transient Erythroblastopaenia of childhood - Gaon: “TEC is a self-limiting and presents slightly later than Diamond-Blackfan anaemia. There are no fetal characteristics of the red cells. The children are phenotypically normal. It may be preceded by a viral illness such as human parvovirus infection”.
Also - arthropathy

Severe transient hypolastic anaemia

  • 6/12 – 3 yo
  • usually after 12/12
  • cause unclear
  • sometimes difficult to differentiate from Diamond-Blackfan syndrome
  • normal HbF
  • normal ADA
  • 60% have associated neutropaenia
  • develops slowly
  • most kids recover within 1 – 2/12
  • transfuse as necessary

2

An 8-week-old baby presents with prolonged jaundice and pale stools. Investigations reveal the following:

  • Bilirubin 240 [0 – 50]
  • Conj bilirubin 180 [0 – 10]
  • GGT 320 [0 – 42]
  • ALT 240 [9 – 40]
  • ALP 250 [30 – 120]

Abdominal ultrasound revealed a contracted gallbladder.
Hepatobiliary iminodiacetic acid (HIDA) scan was non-excretory.

  • PI type was ZZ
  • CMV serology was IgG positive
  • IgM negative
  • Hepatitis A, B and C serology were all negative.

What is the most likely cause of this presentation?

A. a-1 antitrypsin deficiency
B. Biliary atresia
C. Choledocal cyst
D. CMV hepatitis
E. Tyrosinaemia

A. a-1 antitrypsin deficiency

PiZZ means can’t excrete the A1AT

B – this question doesn’t talk about status from birth, is this acute? LFTs are not cholestatic
C – would be seen on US, usually painful (RUQ)
D – CMV IgG is from mum, IgM –ve.
E – see below

Hepatitis serology all normal.


Remember, it’s a lung disease (A1AT is a protease inhibitor, protecting the lung from destruction by neutrophil elastase - but the A1AT accumulates in the liver, leading to metabolic disease).

Pi-- (null) will give lung, but no liver disease. PiZZ = jaundice, pale stool and hepatomegaly in the first week of life, outcomes variable.

  • Liver damage most commonly presenting as neonatal hepatitis with cholestasis beginning between four days and four months after birth and persisting for up to 12 months.
  • Other clinical presentations among newborns included hepatomegaly with elevated aminotransferase levels (but without hyperbilirubinemia), ascites, and bleeding (often umbilical, superficial, or intracranial [5 percent of affected newborns]).

UTD:

  • "HIDA scan is suggestive of BA but does NOT exclude other disease"
  • PIZZ "results in defective secretion of protein X from hepatocytes"

presumably the build up of protein can cause the change seen on the HIDA. Remember that this result on the HIDA just means that the radioactive tracer is not seen in the gallbladder and so there is cystic duct obstruction of some sort....

Tyrosinaemia:

  • Build up of tyrosine because unable to metabolise excess tyrosine
  • Deficiency in FAH enzyme
  • Affects liver, peripheral nerves and kidneys (Fanconi-like syndrome)
  • Usually starts as an acute hepatic crisis, precipitated by acute infection
  • Should have ++coagulopathy
     

3

An 8-year-old girl presents to the Emergency Department with her first generalised seizure. She has a past history of recurrent urinary tract infections. She has been otherwise well. On history, she has had 24 hours of generalised abdominal pain, headache and vomiting.

On arrival in the ED she is irritable, and complaining of altered vision. On examination she is afebrile, has a blood pressure of 158 / 80, and has blurred optic disc margins consistent with papilloedema.

An MRI of her brain is performed, and reveals a posterior encephalopathy as below. Immediately after the MRI she has a further generalised seizure, which is terminated
with IV midazolam. After the seizure her blood pressure is 178 / 104. 

What is the most appropriate next step in medical management of this child?

A. Captopril
B. Frusemide
C. Mannitol
D. Nifedipine
E. Sodium nitroprusside

E. Sodium nitroprusside

This sounds like PRES (also known as RPLS). Posterior Reversible Encephalopathy Syndrome, secondary to malignant hypertension, which is this patient’s case may be from ARF/PN. Associated with eclampsia, Cyclosporin and Cisplatin.

IV Sodium nitroprusside best choice to decrease BP because of ability to titrate.

Nicardipine and labetalol are usually first line due to theoretical concern that nitroprusside may paradoxically increase intracranial pressure through vasodilation.

From UpToDate: 

  • Hypertension is a feature in the majority of PRES patients, regardless of aetiology.
  • Significant improvement in pts with BP management.
  • Usually only moderate HT in PRES, unless malignant hypertension.
  • The initial aim of treatment in malignant hypertension is to rapidly lower the diastolic pressure to about 100 to 105 mmHg; this goal should be achieved within two to six hours, with the maximum initial fall in BP not exceeding 25 percent of the present level.
  • Lowering to quickly may reduce the blood pressure below the autoregulatory range, possibly leading to ischemic events (such as stroke or coronary disease)

 

Mannitol can worsen cerebral oedema
Nifedipine is oral , can be sublingual. No longer used in emergencies because cannot control drop in BP.

4

A 10-year-old girl with a history of shortness of breath is brought to you for assessment.

Her lung fuction tests are as below.

  • FVC 2.93L (83% predicted)
  • FEV1 2.09L (67% predicted)
  • FEV1/ FVC 71%
  • PEF 5.9L/min 102%

Which best describes her results?

A. Poor technique
B. Mild obstructive disease
C. Mild restrictive disease
D. Mixed obstructive/restrictive disease
E. Normal lung function

?A 

5

What is the primary reason for short stature in patients with Turner Syndrome?

A. Primary hypothyroidism
B. Growth hormone deficiency
C. X-inactivation (lyonisation)
D. Haploinsufficiency of the X-chromosome genes
E. Oestrogen deficiency secondary to ovarian failure

D. Haploinsufficiency of the X-chromosome genes

Almost all individuals with Turner syndrome have short stature. This is partially due to the loss of one copy of the SHOX (short-stature homeobox) gene on the X-chromosome. This particular gene is important for long bone growth.

Final adult height in Turner syndrome can be increased by a several inches if growth hormone (GH) treatment is given relatively early in childhood. 

6

Which of the following problems with language development is characteristic of
children with Asperger syndrome?

A. Articulation difficulties
B. Expressive language delay
C. Pragmatic language difficulties
D. Receptive language delay
E. Voice production difficulties

C. Pragmatic language difficulties

7

A 9 month old Chinese girl presents with an eleven day history of fever, cough, extreme irritability and diarrhoea despite treatment with amoxicillin and regular paracetamol. Her immunisations are up to date. Bacille Calmette-Guérin (BCG) vaccine had been given at birth.
On examination she has mild conjunctivitis, red lips, circumoral pallor, a strawberry tongue and pharyngitis.

There is no significant lymphadenopathy. There is a faint erythematous maculopapular rash on her trunk and her BCG scar is acutely inflamed with redness and induration.
Blood tests from admission include:

The most likely diagnosis in this case is:

A. adenovirus infection.
B. enterovirus infection.
C. Kawasaki disease.
D. measles.
E. scarlet fever.

C. Kawasaki disease.

  • Kawasaki – BCG induration. Specific sign
  • Diarrhoea in 30%

Extreme irritability is a red-flag for KD. Should have thrombocytosis (increased platelets).

Support for KD: prolonged fever, rash, conjunctivae, oropharynx, irritable, BCG induration (specific to KD) raised ESR and WCC.

KD - fever plus 4/5: CODRaL (conjunctivae, oropharynx, desquamation, rash, lymphadenopathy)

The circumoral pallor makes you think Scarlet fever, but her fever should have gone by d7.

Not behaving like adenovirus – should it last this long?
Doesn’t sound like measles, should have lymphadenopathy and surely Koplick spots.

Based purely on the duration, induration of BCG site and irritability (plus satisfies criteria), ANS = D

8

Which of the following medications is most successful in treating social and generalized anxiety disorders?

A. Atomoxetine
B. Risperidone
C. Paroxetine (SSRI)
D. Imipramine
E. Sertraline (SSRI)

C. Paroxetine (SSRI)

Paroxetine - anxiety
Fluoxetine – depression

Social Anxiety Disorder (SAD), first line and most successful = SSRI

Note: Atomoxetine is an NRI (selective NRI), not an SNRI (serot/NA reuptake inhibitor – Venlafax).

9

You are asked to assess a 12 hour old boy that was born at 35/40. The labor was 24 hours long and the mother received 4L of 5% Dextrose and Normal saline, as well as a syntocin infusion during that period. The baby was born via Ventouse and APGARS were 3 and 6.

A blood glucose level was checked at 4 hours of age, which was 1.4mmol/L. The baby commenced 80mL/kg/day of intravenous 10% Dextrose.

You are asked to review the baby 5 hours later because it is jittery. You repeat blood
tests:

  • BSL 3.0
  • Na 130
  • K 5.6
  • Cl Normal

The hyponatremia in this instance is most likely due to:

A . Too much IV Fluid given to the mother during labour
B. Too much IV Fluid given to the baby since birth
C. Renal Na losses
D. Adrenal dysfunction due to prematurity
E. Inappropriate ADH secretion due to mild HIE

A . Too much IV Fluid given to the mother during labour

UptoDate says that in the early newborn period, hyponatremia, defined as a serum sodium concentration of 128 or less, most often reflects excess total body water with normal total body sodium. This may result from increased maternal free water intake or the syndrome of inappropriate antidiuretic hormone secretion (SIADH). SIADH may accompany pneumonia or meningitis, pneumothorax, or severe intraventricular hemorrhage.

Hyperglycaemia not an issue, so unlikely dilutional pseudohyponatraemia. It is reasonable to give a prem 80mkd, so exclude B. 

10

Valproate increases side effects of Lamotrigine via which mechanism?

A. Protein binding
B. Induction of enzyme
C. Competitive inhibition of enzyme
D. Renal clearance
E. Conjugation

C. Competitive inhibition of enzyme

Valproate inceases SEs of Lamotrigine and lamotrigine increases SES of Carbamazipine (VLC)

11

A four-year-old girl has aortic stenosis. She is admitted with fever, and a new murmur is noted.

Prior to initiating management for presumed infective endocarditis, which of the following investigations must be performed?

A. Three blood cultures over one hour.
B. Three blood cultures over 24 hours.
C. Three blood cultures with fevers.
D. Tranoesophageal echocardiogram.
E. Transthoracic echocardiogram.
F. Three blood cultures at one hour intervals

B. Three blood cultures over 24 hours.

From UTD: In the critically ill child, three separate venipunctures for blood cultures should be performed as quickly as possible (less than one hour), and empiric antibiotic therapy started. If the patient is not acutely ill, antibiotic therapy can be withheld for 24 to 48 hours while the blood cultures are collected.

....in this question there is no mention that the child is acutely unwell.

Echo can be done at any time.

Current guidelines for IE prophylaxis...

The 2008 Australian guidelines recommend antibiotic prophylaxis only for patients with the following cardiac conditions which are thought to be associated with the highest risk of adverse outcomes from endocarditis if undergoing a specified dental or medical procedure:

  • Prosthetic cardiac valve or prosthetic material used for cardiac valve repair
  • Previous infective endocarditis
  • Cardiac transplantation with the subsequent development of cardiac valvulopathy
  • Congenital heart disease but only if it involves:
    • Unrepaired cyanotic defects, including palliative shunts and conduits
    • Completely repaired defects with prosthetic material or devices whether placed by surgery or catheter intervention, during the first 6 months after the procedure (after which the prosthetic material is likely to have been endothelialised)
    • Repaired defects with residual defects at or adjacent to the site of a prosthetic patch or device (which inhibit endothelialisation

Antibiotic choice....

Dental procedures -  oral amoxicillin 2g given 30 to 60 minutes before the procedure.

.....not to be confused with BICILLIN given IM in RHD.....

12

An eight-month-old girl presents with fever for 18 hours. On examination, she appears well and there is no obvious focus of infection. Her immunizations are up to date.
Which of the following organisms is most likely to be positive on blood culture?

A. E. Coli.
B. Neisseria Meningitidis.
C. Staph. Aureus.
D. Strep. Pneumoniae.
E. Listeria monocytogenes.

D. Strep. Pneumoniae.

(even fully immunised, still most common)
At 8m, she has finished her courses of DTP, IPV, PnC and rotaV. Almost finished her hepB and HiB. Not yet had her MMR and menC, nor VZV. 

13

A mother brings her 18 month old boy in for review because he has a unilateral testicular mass that has been enlarging over 3 weeks. The boy has no evidence of
virilisation. Ultrasound shows the mass to be solid. Alpha-fetoprotein level 1700 (N<7).
(picture shows unilateral testicular mass – no overlying skin changes)

The mass is most likely:

A. Germinoma
B. Gonadoblastoma
C. Teratoma
D. Leydig cell tumour
E. Yolk sac tumour

E. Yolk sac tumour

Alpha feto protein in 18 m old most likely Yolk sac – will produce AFP and sometime BHG

  • Gonadoblastoma – less likely
  • Teratoma – solid, mixed components, tooth, hair
  • NOT leydig cell, not write age and not these markers
  • Germ cell tumour – from yolk sac of embryo
  • Pure germinoma – often don't produce tumour cell markers like BHCG


Epithelial lining – 1 of very very few carcinoma type in children

Emedicine – most common germ cell tumours are teratoma or yolk sac tumour.

Alpha feta protein = yolk sac tumour
BHCG = hepatoblastoma
Germinoma 10% high HCG
 

14

You are asked to see a four-month-old in the Intensive Care Unit. He has been hypotonic and weak since birth. On examination, there is no facial weakness but he has profound weakness of the extremities with areflexia. His chest X-ray is shown.

The most likely diagnosis is:

A. Congenital myotonic dystrophy.
B. Mitochondrial myopathy.
C. Nemaline myopathy.
D. Pompe disease.
E. Spinal muscular atrophy.

D. Pompe disease.

15

A 3 month old girl presented in severe DKA that initially required an insulin infusion and IV fluids. She is now on subcutaneous insulin therapy. Her genotye comes back and shows she has a kir 6.2 mutation. What management change should you institute?

A. Cease all insulin
B. Commence insulin pump
C. Commence metformin
D. Commence a sulfonylurea
E. Continue her current subcutaneous insulin

D. Commence a sulfonylurea

Sulphonylurea – kir 6.2 is one of the mutations associated with neonatal diabetes and sometimes maturity onset diabetes of the young (MODY) or Monogenic diabetes.  Commonly these conditions respond to Sulphonylurea’s that act specifically on the channels involved in insulin secretions that are affected by the genetic problems.  Kir 6.2 specifically is discuss in UTD and is best treated with a sulphonylurea.

16

A four year old boy has this ECG performed as part of the work up for a suspected seizure.

What does it show?

A. Left atrial hypertrophy
B. Left ventricular hypertrophy
C. Normal ECG
D. Right bundle block
E. Right ventricular hypertrophy

E. RVH

According to Park, criteria for RVH are

  1. Right axis deviation,
  2. Tall R-waves in V1 & V2,
  3. Abnormally large R/S ratio in V1/V2 and small R/S ratio in V6,
  4. Upright T-waves in V1 >3 days (other sources suggest between 7 days and 7 yrs)

17

A 33 week baby boy is born at 1700g. His apgar scores are 5 and 7 at 1 and 5 minutes respectively. He has some respiratory distress and an initial oxygen requirement of 28%. He is commenced on intravenous benzylpenicillin and gentamicin. After 12 hours his respiratory distress has resolved and antibiotics are ceased. He no longer requires oxygen.

On day 2 he develops jaundice with a total bilirubin of 200 μmol/L and a conjugated bilirubin of 19 μmol/L. He receives 24 hours of phototherapy, after which his total bilirubin is 98 μmol/L.

At 2 weeks he develops apnoeas, thought to be reflux-related. His feeds are thickened. There is a maternal uncle in the extended family with a history of hearing loss.

At two months, this baby has a hearing test, which reveals profound hearing loss. Which of the following is most likely to have contributed to his hearing loss?

A. Apnoea.
B. Family history.
C. Gentamicin.
D. Jaundice.
E. Low birth weight.

B. Family history.

50% of sensorineural hearing loss is hereditary, with 1/3 being syndromic and 2/3 non-syndromic.  Most commonly  AR so distant family history is to be expected, but is often not identified at all.

18

A prospective randomised control trial is conducted with a group of frequent relapsing nephrotic syndrome patients. Group A is treated with cyclosporin with the dose adjusted for trough levels, where as Group B are treated with a consistent dose of cyclosporin.

The results showed the hazard ratio for relapse was 0.43 (95% CI of 0.17 – 1.09) Group A compared to Group B. What is the best interpretation of this result?

A. Group A are 43% less likely to relapse than Group B
B. Group A are 57% less likely to relapse than Group B
C. Group A have 43% the rate of relapse of that in Group B
D. Group A have 57% the rate of relapse of that in Group B
E. Group A had significantly less relapses that Group B

C. Group A have 43% the rate of relapse of that in Group B

Hazard ratio means – TAKES TIME INTO ACCOUNT, time to an event or survival ratio between things

 

19

A seven-year-old boy with cerebral palsy presents with 36 hours of fever, cough and increasing respiratory distress. He has vomited twice. On examination his temperature is 39.2 degrees celcius and he has bronchial breathing and coarse crackles in the right upper zone, with moderate work of breathing. His chest x-ray is shown:

What is the most appropriate choice of intravenous antibiotic?

A. Benzylpenicillin.
B. Benzylpenicillin and Roxithromycin.
C. Cefotaxime.
D. Cefotaxime and Metronidazole.
E. Flucloxacillin and Gentamicin.

A. Benzylpenicillin.

E. Flucloxacillin and Gentamicin.

Depends whether the real XR in the exam showed a cavitating lung lesion (as here) or aspiration (as per the stem).

  • Cover for aspiration - just use penicillin for aspiration pneumonia
  • Infection above diaphragm = penicillin and below - metronidazole
  • If caviting lesion with air fluid level – use flucox and gent

20

The test, Thiopurine s-methyltransferase (TPMT), is used for guiding therapy with which of the following drugs?

A. Methotrexate
B. Azathioprine
C. Mycophenolate
D. Cyclosporin
E. Cyclophosphamide

B. Azathioprine

TPMT is an enzyme involved with metabolism of AZA and it’s metabolites and low enzyme activity can result in higher levels of toxic metabolites with increased risk of myelosuppression or liver toxicity.

21

A 15 year old boy presents with unilateral right sided breast swelling for 3 months. He has been well with no discharge from the breast. On examination he is well grown, weight and height on the 90th centile. He is pubertal at stage 3 pubic hair and genital development with 15cc testes bilaterally. His right breast is enlarged and mildly tender. His left breast is normal.

Which is the most likely diagnosis?

A. Breast abscess
B. Breast cancer
C. Prolactinoma
D. Klinefelters
E. Pubertal gynecomastia

E. Pubertal gynecomastia

Breast abscess will usually be unwell with significant pain and likely purulent discharge and is very rare in this age group.  Breast cancer is extremely rare.  Prolactinoma would be bilateral and cause gallactorrhoea, Klinefelters almost always have <5mL testes

22

Which condition is most associated with an increased intensity in the pulmonary component of the 2nd heart sound?

A. ASD
B. Pulmonary hypertension
C. Severe pulmonary stenosis
D. Tetralogy of Fallot
E. Transposition of Great Arteries

B. Pulmonary hypertension

23

7 year old girl presents following a first episode of a brief seizure involving her right arm. Her family emigrated from India to Australia 2 years ago. She and her family are vegetarians. She has been well with no fevers, no headaches and no ear aches. Her physical examination, including neurological examination is normal.

Her MRI is shown below:
(image similar to that shown BUT showing occipital lesion, report given below)

MRI of brain with gadolinium contrast on T2 weighting shows cystic lesions and nodules with slight ring enhancement present in the right temporal and subcortical regions. There is a further cystic lesion in the right occipital region with marked peri- lesional oedema.

Which of the following is the most likely diagnosis?

A. Brain abscess
B. Hydatid disease
C. Neurocysticercosis
D. Trichinosis
E. Tuberculoma

C. Neurocysticercosis

Classic tape worm – usually solitary lesion, India, 2 years (takes long time – latent period), oedema causes seizures. Most common cause of seizured in the world. Treatment: albendazole but can make them worse so MUST use steroid cover to redeuce swelling. Some say don't treat us the parasite is dying anyway. 

Usually transmitted via pork, but can be fecal-oral via humans. 

Brain abscess would commonly have one or more of headache, fever and focal neurology.  Hydatid is rarely outside of the liver and lung.  Trichinosis is either GI or severe widespread.  Tuberculoma follows systemic TB infection and if anything causes focal neurology and signs of mass effect.
Secrets: tapeworm disease, commonly from ingestion of undercooked pork. If haematogenous spread of the eggs to the brain occurs, cysts form that can result in seizures/other neurological manifestations. MRI: ring enhancing cysts characteristic of the disease

24

Which has been shown to most effectively reduce the rate of suicide?

A. Cognitive behavior therapy
B. Media blackout on reporting suicide
C. Restricted access to lethal means
D. Media campaigns
E. Family therapy

C. Restricted access to lethal means

25

Children with Beckwith-Wiedermann syndrome are at risk of developing Wilms tumours, therefore regular renal ultrasound scanning should be done.
What is the cumulative risk in BWS of a Wilms tumour?

A. 1%
B. 5%
C. 15%
D. 25%
E. 50%

B. 5%

26

A 3 year old boy presents with a one day history of fever, coryza and cough. On examination he looks unwell is mildly hypoxic in room air and is tachypnoeic. Urinalysis reveals Blood ++ and Protein +. Creatinine is mildly elevated (~90), other bloods normal. During your assessment, he coughs up bright red blood. Coagulation studies are normal.

What test is likely to confirm the diagnosis?

A. Angiotensin converting enzyme (ACE)
B. ANCA
C. ANA
D. Quantiferon gold release assay
E. C3

B. ANCA

ANCA positive small vessel vasculitis includes Wegener's and can classically present with pulmonary-renal syndrome.  i.e. C-ANCA

Wegener’s: a necrotising granulomatous vasculitis of the upper and lower respiratory tracts, accompanied by GN. Clinical features: pulmonary granuloma, destructive granuloma of the ears, nose and sinuses, rash, GN, eye lesions. Ix with ANCA. Rx with steroids and cyclophosphamide.

ACE Is for Sarcoid, very rare.  ANA is for lupus which is not as rare but very rarely presents this way.  Quantiferon for TB might present with haemoptysis (although this is more an adult presentation) but unlikely nephritis.  Low C3 in SLE, PSGN, MPGN but these won't present like this.  

ANCA-associated vasculitis:

  • Wegener’s = granulomas + respiratory + kidneys, F>M - cANCA
  • Microscopic polyangiitis = similar to WG but not granulomatous, M=F - pANCA
  • Churg-Strauss syndrome = small vessel granulomas + refractory asthma + eosinophilia, M=F, usually adults – pANCA
  • p-ANCA = perinuclear. Target = myeloperoxidase
  • c-ANCA = cytoplasmic. Target = proteinase 3

27

A 16 year old primigravida gives birth to a 2.5kg term baby girl. There is a history of poor antenatal care, prolonged rupture of membranes and a maternal fever. Fragile skin and blistering is noted to be present at birth which worsens with handling.

(picture of a baby with skin blistering on torsoe and fingers. Illustrative photo shown)

What is the most likely diagnosis?

A. Epidermolysis Bullosa
B. Group B Streptococccal infection
C. Herpes Simplex Virus
D. Pemphigus Vulgaris
E. Staphylococcal Scalded Skin Syndrome

A - Epidermolysis Bullosa

Epidermolysis bullosa (EB) comprises group of rare inherited disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions following minor trauma.

It is the only one that can present from birth (UTD).  SSSS is a key differential but usually presents a few days down the line.

28

Among newly arrived refugee children, what percentage are affected by anxiety, depression and/or post-traumatic stress disorder?

A. 5%
B. 10%
C. 20%
D. 30%
E. 50%

E. 50%

29

You are seeing a 2 year-old boy who has recently been discharged after his 5th admission with viral wheeze associated with an upper-respiratory tract infection. On each occasion he has responded well to asthma treatment and been discharged within 48 hours. His parents report that there have been no exercise- or allergen- induced interval symptoms of wheeze, difficulty breathing or cough. The boy has not suffered from eczema and there is no family history of atopy though his father reports having similar episodes as a young child that he “grew out of”.
His parents are concerned and would like to avoid further episodes and admissions if possible.
What is the most appropriate advice at this time?

A. Fluticasone 100mcg BD

B. Fluticasone 750mcg BD during upper respiratory tract infections

C. Oral prednisolone 1mg/kg at the first sign of wheeze

D. Inhaled salbutamol 6 puffs 4-hourly at the first sign of wheeze

E. Salmeterol 50mcg BD during upper respiratory tract infections

B. Fluticasone 750mcg BD during upper respiratory tract infections

Intermittent inhaled glucocorticoids 

  • Intermittent use, started at the onset of an URTI and continued for approximately one week may decrease asthma-type symptoms and oral glucocorticoid use in preschool children with viral-associated wheezing.
  • Fluticasone 750 mcg BD for 7-10 days at first sign on URTI, before wheeze onset recommended by UTD.

Inhaled short-acting beta agonists

  • first line in virus-induced wheezing and are an effective rescue treatment in symptomatic patients, especially in children with established asthma.
  • not been shown to improve clinical outcomes, decrease the rate of hospital admission, or decrease the duration of hospitalization in children with bronchiolitis.

30

Mother presents with her child having toddler tantrums. What is the best way to manage these?

A. Physical punishment (eg. smack)
B. Incentive system (eg. Star Chart)
C. Stop, Think, Do
D. Time Out
E. Verbal Reprimand

D. Time out

  • Identify tantrum triggers. Certain situations – shopping, visiting or mealtimes – might frequently involve temper tantrums. Think of ways to make these events easier on your child. For example, you could time the situations so your child isn’t tired, eats before you go out, or doesn’t need to behave for too long.
  • When a tantrum occurs, stay calm (or pretend to!). If you get angry, it will make the situation worse and harder for both of you. If you need to speak at all, keep your voice calm and level, and act deliberately and slowly.
  • Wait out the tantrum. Ignore the behaviour until it stops. Once a temper tantrum is in full swing, it’s too late for reasoning or distraction. Your child won’t be in the mood to listen. You also run the risk of teaching your child that tantrums get your full involvement and attention.
  • Make sure there’s no pay-off for the tantrum. If the tantrum occurs because your child doesn’t want to do something (such as get out of the bath), gently insist that she does (pick her up out of the bath). If the tantrum occurs because your child wants something, don’t give her what she wants.
  • Be consistent and calm in your approach. If you sometimes give your child what he wants when he tantrums and sometimes don’t, the problem could become worse.
  • Reward good behaviour. Enthusiastically praise your child when she manages frustration well.

31

A 9 month old girl presents with a fever and lethargy. She is diagnosed with an E. Coli urinary tract infection following investigation and is treated with 48 hours of IV ampicillin and gentamicin. There is no family history of vesico-ureteric reflux and she had normal antenatal ultrasounds.

What would be the most appropriate next investigation?

A. DMSA in 4-6 months
B. Ultrasound and DMSA in 4-6 months
C. Ultrasound and MCU in 4-6 weeks
D. Ultrasound in 6 weeks
E. Ultrasound prior to discharge

D. Ultrasound in 6 weeks

I think this question is remember wrong because being nine months this child actually requires no imaging according to the guidelines and that’s not one of the answer options…

<6 months

For an atypical or recurrent UTI, USS during acute infection.

For a typical UTI which responds to antibiotics within 48 hours - USS within 6 weeks, if USS abnormal consider MCUG.

DMSA at 4-6 months, and MCUG if atypical or recurrent UTI.

6m-3yrs

For an antypical UTI, USS during acute infection.

For recurrent UTI - USS within 6 weeks.

DMSA at 4-6 months if atypical or recurrent UTI.

No MCUG

32

A 10-year old girl with known Type 1 diabetes mellitus is found to have an anti-tissue transglutaminase level of 120 (0-5) following routine screening for coeliac disease. She is referred to a gastroenterologist who performs a gastroscopy. The histology from multiple small bowel biopsies shows no evidence of coeliac disease.

What is the next most appropriate step in management of this girl?

A. Repeat the anti-tTG
B. Repeat the gastroscopy in 12 months
C. Start a gluten-free diet
D. Do HLA DQ2/DQ8 typing
E. Screen the family for coeliac disease

B. Repeat the gastroscopy in 12 months

33

The following diagram represents a family tree of individuals with Leber hereditary optic neuropathy. What is the probability that the person indicated will be affected?

A. <5%.
B. 25%.
C. 50%.
D. 80%.
E. 100%.

E. 100%

Leber hereditary optic neuropathy is mitochondrially inherited but, due to mitochondrial heteroplasmy, there are some children of an affected mum who don’t inherit it and, because there is also variable penetrance, some children who do inherit it may not actually have symptoms.

Furthermore, it would depend on whether the questions asked about the condition being ‘inherited’ or the child actually being ‘affected’. 

34

A 3-year-old boy has chronic mucocutaneous candidiasis. Which of the following conditions is he most at risk of developing?

A. Diabetes mellitus
B. Hypothyroidism
C. Disseminated fungal infection
D. Coeliac disease
E. Systemic Lupus Erythematosis

A. Diabetes mellitus or 

B. Hypothyroidism

Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of syndromes with common features including chronic noninvasive Candida infections of the skin, nails, and mucous membranes and associated autoimmune manifestations (most commonly endocrinopathies). 

Mutations in the AIRE gene cause CMCC and when associated with endocrine abnormalities is called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

The classic triad is mucocutaneous candidiasis, hypoparathyroidism, and adrenal failure

Other endocrinopathies associated with include:

  • Type 1 diabetes mellitus
  • hypothyroidism
  • growth hormone deficiency
  • ovarian failure (appears to coexist with adrenal failure)
  • male hypogonadism.

35

A 15-year old girl presents to the emergency department requesting emergency contraception 48 hours after having unprotected intercourse.

To be effective, emergency hormonal contraception should be administered within

A. 24 hours
B. 36 hours
C. 48 hours
D. 72 hours
E. 96 hours

D. 72 hours

36

A 4-month old 5kg boy presents to the emergency department following a 48-hour history of vomiting and diarrhoea. While being assessed he has a tonic-clonic seizure and is moved to the resuscitation area.

A blood gas demonstrates the following:

  • Na+ 117
  • K+ 5
  • BSL 5

Which of the following fluids would you administer?

A. 0.45% saline bolus
B. 0.9% saline bolus
C. 3% saline bolus
D. 10% dextrose bolus
E.  Hartmanns solution bolus
F.  6% saline infusion

C. 3% saline bolus

  • Hyponatraemic seizures often respond poorly to conventional anticonvulsants, and sodium correction should not be delayed. The sodium should be raised until it reaches 125mmol/L or until seizures stop, whichever occurs first.
  • Use intravenous 3% NaCl solution. 

The ideal rate of serum sodium correction depends on the presence and severity of symptoms. Correction that is too rapid (>8 mmol/L Na+/24h) can result in cerebral demyelination, especially of the pons, with risk of severe and lasting brain injury. This is especially a risk if hyponatraemia has been present for more than 5 days and is rapidly corrected.

37

A one day old baby is cyanotic and tachypnoeic. First and second heart sounds are normal and there is a 3/6 pansystolic murmur loudest at the lower left sternal edge. There is evidence of hepatomegaly. The chest xray is shown below:

What is the most likely diagnosis?

A. Dextro-transposition of the great arteries
B. Persistent fetal circulation
C. Ebstein anomaly
D. Tricuspid atresia
E. Tetralogy of Fallot

C. Ebstein anomaly

  • Atrialisation of RV 
  • tricuspid regurgitation and right-sided cardiac chamber dilation and dysfunction.
  • Cyanosis due to LA to RA flow through ASD because PA may be obstructed by leaflet of Tricuspid valve 
  • ECG finding include
    • RAH + RBBB
    • Low voltage QRS over right sided chest leads
  • CXR - In severe cases, the chest radiograph reveals massive cardiomegaly (often termed a "wall to wall" heart) with diminished pulmonary vascularity. The right atrium is prominent and the left heart border becomes straight or convex due to dilated and displaced right ventricular outflow. The chest radiograph may be normal in patients with less severe disease.

     

 

38

A 14-year-old vegan girl presents with severe tiredness. Three weeks previously she was treated for fever, cough and dyspnoea with a seven-day course of amoxycillin.

Laboratory tests include:

Blood film: polychromasia, microspherocytes, rouleaux, agglutination.

Which of the following is the most likely underlying cause of this anaemia?

A. Hereditary spherocytosis.
B. Infectious mononucleosis.
C. Mycoplasma pneumoniae infection.
D. Penicillin-induced haemolysis.
E. Vitamin B12 deficiency.

C. Mycoplasma pneumoniae infection.

Cold agglutinin disease. 

39

A 15-year old boy with a history consistent with schizophrenia presents to the emergency department two weeks after starting 2mg of Risperidone daily. He is complaining of symptoms of restlessness, taking small steps and fidgeting.

His presentation is consistent with which of the following

A. Dystonia
B. Akathisia
C. Parkinsonism
D. Tardive dyskinesia
E. Malingering

C. Parkinsonism

Parkisonism and akathesia documented side effects of risperidone.

Parkinsonism
Includes tremor, rigidity or bradykinesia; usually develops after weeks or months. Although usually reversible, symptomatic treatment is sometimes necessary. Short-term use of an anticholinergic (benztropine or benzhexol) may help. If parkinsonism persists, consider reducing antipsychotic dose or switching to an alternative antipsychotic.

Akathisia
A feeling of motor restlessness; usually occurs 2–3 days (up to several weeks) after starting treatment and may subside spontaneously. It is important to differentiate between akathisia and agitation secondary to psychosis. Akathisia tends to improve with dose reduction and deteriorate when the dose is increased; agitation due to psychosis tends to improve if the dose is increased and deteriorate if it is reduced.

Dystonias
Torticollis, carpopedal spasm, trismus, perioral spasm and oculogyric crisis, as well as medical emergencies, such as laryngeal spasm and opisthotonos, may occur. Dystonias are more common in children and young adults, and more likely with high doses. They often occur within 24–48 hours of starting treatment or increasing dose, and respond rapidly to anticholinergics such as benztropine. In some cases treatment with a benzodiazepine may also help. 

Tardive dyskinesia (TD)
Involuntary movements of the face, mouth or tongue, and sometimes head and neck, trunk or limbs. TD may appear after medium- to long-term treatment, or even after stopping the antipsychotic (particularly after suddenly stopping). Higher risk in elderly.

Neuroleptic malignant syndrome (NMS)
A potentially fatal condition characterised by fever, marked muscle rigidity, altered consciousness and autonomic instability; usually progresses rapidly over 24–72 hours. Elevation of serum creatine kinase concentration (skeletal muscle origin) and leucocytosis often occur.

 

40

A 12yo boy is diagnosed with inflammatory bowel disease and commenced on corticosteroids. His symptoms progress until he develops fever and bloody stools. Examination shows a slightly distended abdomen with generalised tenderness. He has the following AXR taken.
(the image was a poor quality, but similar to this one.

There were arrows pointing to a dilated gas-filled loop of small bowel in the LUQ.)

What does the x-ray show?

A. Perforation
B. Small bowel obstruction
C. Toxic megacolon
D. Large bowel obstruction
E. Volvulus

C. Toxic megacolon

Toxic megacolon can occur as a complication of Shigella infection, pseudomembranous colitis, Hirschsprung disease, or inflammatory bowel disease.

UTD:
CLINICAL MANIFESTATIONS — Toxic megacolon affects all ages and both sexes. Patients with IBD are at the highest risk for developing this complication early in their disease, not infrequently at initial presentation. 

Signs and symptoms of acute colitis that are frequently resistant to therapy are often present for at least one week prior to the onset of acute dilatation. Severe bloody diarrhea is the most common presenting symptom, while improvement of diarrhea may herald the onset of megacolon. One study of patients with C. difficile colitis and toxic megacolon found that diarrhea was a complaint in 100 percent of cases, malaise in 91 percent, and abdominal pain and distention in 82 percent.

 

41

A 16 year old, previously well athletic male presents after completing a half marathon. He is complaining of muscle weakness and has passed a small amount of tea coloured urine.

Results reveal the following:

  • Sodium 146
  • Potassium 6.0
  • Chloride 118
  • Bicarbonate 18
  • Phosphate 1.9
  • Calcium 2.3
  • Creatinine 194 
  • CK 1600

(normal ranges also given)

What of the following is the most appropriate treatment at this stage?

A. Bicarbonate
B. Frusemide
C. Mannitol
D. Normal Saline
E. Haemodialysis

D. Normal Saline

UTD: Rhabdomyolysis — Injury can lead to breakdown of skeletal muscle tissue, causing the release of creatinine kinase and other intracellular substances. The classic symptom triad includes myalgias, weakness, and dark urine. Rhabdomyolysis in children most commonly occurs as a result of viral myositis. Other causes include trauma, connective tissue disease, toxins, and exercise.

Josh Kausman: Rhabdomyolysis – need FLUID! Damaged mm suck up a lot of water (third spacing) which can worsen the insult from dehydration. MUST give bicarb to reduce risk of crystallisation of (?myoglob) in urine. THINK OF IT AS SIMILAR TO TUMOUR LYSIS SYNDROME. Start with NS unless HT in which case dialyse.

42

A 15 year old female who has spent some time in Malaysia in the past year, presents with haemoptysis. She has a two month history of fatigue and weight loss. Her x ray is shown below.

Her sputum show 3+ for acid fast bacilli and she is diagnosed with tuberculosis. You are advised that sensitivities from her sputum culture will take approximately 4-6 weeks.

Which of the following antibiotic regimens is most appropriate?

A. Isoniazid
B. Isoniazid and Pyrazinamide
C. Isoniazid and Rifampicin
D. Isoniazid, Rifampicin, Amikacin and Moxifloxacin
E. Isoniazid, Rifampicin, Pyrazinamide and Ethambutol
F. Isoniazid and Pyridoxine
G. Isoniazid, Rifampicin, Myambutol and Ethambutol

E. Isoniazid, Rifampicin, Pyrazinamide and Ethambutol (RIPE)

This regimen 1st line
2 months 4 drugs, then 4 months 2 drugs (isonazid and rifampicin)


This girl has active TB and is highly infectious. Needs 2 months of RIPE then another 4 months (6m total) of isoniazid and rifampicin.


 

43

What is the most common side effect in children treated with corticosteroids?

A. Behavioural change
B. Hypertension
C. Decreased glucose tolerance
D. Decreased immunity during infection
E. Peptic ulceration

A. Behavioural change

44

The most common form of Juvenile Idiopathic Arthritis is:

A. Oligoarthritis
B. Polyarthritis
C. Systemic onset JIA
D. Enthesitis-related arthritis
E. Psoriatic arthritis

A. Oligoarthritis

  • Pauciarticular - 60%
  • Polyarticular - 30%
  • Systemic onset - 10%

45

A pregnant woman is taking 80mg of methadone throughout her pregnancy. Urine drug screens done on multiple occasions during the pregnancy show no other medication apart from methadone.

At term, a healthy male baby is born via normal vaginal delivery in good condition, with a birth weight of 3200g. On Day 2 of life however, he becomes unsettled, sweaty and jittery, with loose stools and frequent vomits.

Which medication is most likely to improve this infant’s symptoms?

A. Benzylpenicillin and gentamicin
B. Phenobarbitone
C. Naloxone
D. Morphine
E. Clonidine

D. Morphine

Neonatal Abstinence Syndrome
Onset usually within 24-48 hours of birth (morphine) or 48-72 hours (methadone) but may be delayed up to 10 days and can continue for months
Onset tends to be later, and symptoms persist longer, with methadone
Associated with SIDS, IUGR, preterm delivery (but LESS surfactant deficiency)

Symptoms

  • WITHDRAWAL = wakefulness, irritability, tremors/temperature instability/tachypnoea, high-pitched cry/hyperactivity/hypertonia, diarrhoea/disorganised suck, respiratory distress/rhinorrhoea, apnoea, weightloss, autonomic dysfunction, lacrimation
  • Also seizures, myoclonic jerks, hiccups, sneezing, yawning

Management

  • Monitor with NAS scoring – start treatment with 3x scores >8. Weaning is also done according to scores
  • Less than 50% require pharmacological intervention – indications include severe symptoms/seizures
  • Oral morphine is the usual treatment of choice – acts to improve symptoms short term; long term benefits remain unproven. Faster to regain BW while on opioids but longer hospital stay.
  • Also supportive care: decreased sensory stimulation (quiet room, swaddling); small, frequent feeds; additional calories/fortification due to increased metabolic needs; watch growth.
  • BF by mothers who continue to use heroin is NOT recommended, BUT BF by mothers on methadone appears to be safe
  • Naloxone may precipitate rapid withdrawal symptoms, and therefore should be used with caution in the infant exposed prenatally to opioids

46

A 14 year old boy presents with symptoms of recurrent food impaction. He has a normal barium swallow. What is the most likely cause of his symptoms?

A. Achalasia
B. Eosinophilic eosophagitis
C. Globus Hystericus
D. Reflux stricture
E. Hiatus Hernia
F. Peptic ulcer disease
G. Coeliac disease

B. Eosinophilic eosophagitis

  • Eosinophilic oesophagitis
  • Most common in Caucasian males
  • Hx of atopy in 50%, pos atopic fhx in 75%
  • Sx: feeding disorders (median age 2.0), vomiting (median age 8.1), abdominal pain
  • (median age 12.0), dysphagia (median age 13.4), and food impaction (median age 16.8)
  • Characteristic clinical features and large numbers of eosinophils in the esophagus on pathologic examination (≥15 eosinophils per high powered [400x] field in at least one specimen) despite acid suppression with a PPI for one to two months. The criteria also include normal gastric and duodenal mucosal biopsies and the exclusion of other causes.
  • Rx: cortisone, PPI, esophageal dilatation, elimination diet (? assoc with food allergy)
  • Prognosis: probably persists into adulthood, 10% developed tolerance to food allergies

47

A 15year old girl presents to the emergency department at midnight. She has a history of acute onset right-sided abdominal pain. She is sexually active and is currently on the combined oral contraceptive pill. On examination there is right sided tenderness. Lipase, electrolytes and liver function tests are normal and a serum BHCG is normal. You call the on-call radiologist to discuss coming in to perform an ultrasound scan.

In this patient what condition would warrant the radiologist to come in overnight to perform an urgent USS?

A. Cholecystitis
B. Ectopic pregnancy
C. Ovarian torsion
D. Pelvic inflammatory disease
E. Renal stones
F. Appendicitis
G. Ovarian cyst

C. Ovarian torsion

Ovarian Torsion

  • Twisting of the adnexa on its pedical
  • Typically presents with acute onset of sharp, intermittent lower abdominal pain associated with nausea and vomiting. Usually afebrile (may be low-grade fever if necrosis).May be a history of recent vigorous activity
  • Cysts may predispose to torsion hence higher incidence in adolescence cf pre-pubertally
    • BUT children CAN have torsion of a normal ovary (no identifiable lesion/lead point in 20%). May be due to long utero-ovarian ligament
  • USS may show cyst, or size differential between ovaries; free fluid in the POD
    • An enlarged, heterogenous appearing ovary is the most common USS finding
    • Role of Doppler USS is controversial
  • Requires prompt surgical intervention to prevent necrosis and loss of the ovary
  • Not usually life-threatening but can compromise future fertility

48

A 3 year old boy has a two week history of rash that initially began as a pruritic red papular rash on his hands and feet. In the last week his GP commenced him on a course of cephalexin.

The eruptions have now evolved further (pictured below) :
What is the most likely diagnosis:

A. Eczema herpeticum
B. Infected flea bites
C. Hand foot and mouth diseases
D. Infected Scabies
E. Drug Eruption

D. Infected scabies

Classic distribution
Treatment = permethrim. 1 dose and then another in 2/52

Image shows burrows which are pathognomonic of scabies.

49

A 3 month old boy presents with a recent history of coryzal symptoms including cough and rhinorrhoea. His oxygen saturations are 90% in room air and he is noticeably tachypnoeic. His CXR is as shown below :

What is the most likely diagnosis?

A. ASD
B. Tetralogy of Fallot
C. Transposition of Great arteries
D. Ebstein anomaly
E. AVSD

B. Tetralogy of Fallot

Boot shaped heart, normal heart size, oligaemic lungs, borderline sats, clear lung-fields (note that a hypoplastic main pulmonary artery contributes to the ‘boot’ appearance).

Characteristic CXR findings in CHD:

  • Boot-shaped heart = Tetralogy = concave main PA segment with upturned apex
  • Egg-shaped heart = TGA
  • Snowman sign = supracardiac TAPVR
  • Rib-notching = coarctation (seen in older children)
  • Massive cardiomegaly = Ebsteins (or Pompe)

Tetralogy of Fallot:

  • 5-10% of all CHD – the most common cyanotic heart defect
  • RVOT obstruction (usually infundibular stenosis) + large perimembranous VSD, from which RVH and over-riding aorta follow
  • Presentation: Murmur audible from birth (PS). Most are cyanotic at birth or shortly thereafter (acyanotic may be asymptomatic or develop signs of CHF from large L-R shunt)
  • ECG: RAD (normal axis if acyanotic TOF) + RVH (BVH in acyanotic form)
  • CXR: boot shaped heart as above (acyanotic TOF can look like a moderate VSD but also have RVH compared to VSD alone which normally shows LVH)
     

50

A toddler presents with pancytopaenia, fever, hepatomegaly and a ferritin ~30,000. What is the most likely diagnosis?

A. Acute myeloid leukaema
B. Hypoplastic left heart
C. Sideroblastic anaemia
D. Haemochromatosis
E. Acute lymphocytic leukaemia

B. Haemophagocytic lymphohistiocytosis

UpTo Date:
Extremely high levels of ferritin are generally seen chronically only in subjects with one of the genetic forms of hemochromatosis and in those who have received multiple red cell transfusions. Acute onset of extremely high levels of ferritin may be seen in juvenile idiopathic arthritis, systemic lupus erythematosus, opportunistic infection in a patient with HIV, and hemophagocytic lymphohistiocytosis (HLH). 

Hemophagocytic Lymphohistiocytosis

  • A potentially fatal disorder of cytokine dysfunction, resulting in uncontrolled accumulation of activated T-lymphocytes and activated histiocytes (macrophages) in many organs
  • Most often affects infants from birth to 18 months of age, but cases in older children and adults have been reported
  • May be familial, associated with a number of different infections, autoimmune disorders, or coincident with a number of malignancies

Presentation:
Fever (90%), maculopapular/petechial rash (40%)

  • Respiratory distress
  • Weightloss
  • CNS involvement: aseptic meningitis (50%), irritability
  • Hepatosplenomegaly (80-90%), lymphadenopathy (40%)
  • Severe immunodeficiency

Pathophysiology:

  • Cytokine dysfunction→ uncontrolled accumulation of activated T-lymphocytes and activated histiocytes (macrophages) in many organs
  • Haemophagocytosis seen in bone marrow

Diagnosis:

  • fever + splenomegaly + lab findings
  • Hyperlipidaemia, hypofibrinogenaemia, NORMAL ESR, elevated transaminases, extremely elevated levels of CD25 (circulating IL-2 receptors released by activated lymphocytes), very high levels of serum ferritin (often >10000), cytopenias (esp pancytopenia; from hemophagocytosis in the BM), low/absent NK cells

51

A 2 month old presents with failure to thrive, oral thrush that recurs whenever oral antifungals are ceased, weight loss and eczema. He has not regained his birth weight.
Investigations reveal:

  • Hb 128
  • WCC 3 (low)
  • Lymphocytes 1(low)
  • Neutrophils 2.3 (normal)
  • IgG 2.3 (normal)
  • IgM 0.1 (low)
  • IgA 0.5

What is the most likely diagnosis?

A. SCID
B. Wiskott Aldrich syndrome
C. X Linked Agammaglobulinaemia
D. Chronic mucocutaneous candidiasis
E. Hyper IgE syndrome

ANSWER: A (does a SCID rash account for the eczema) ?? Or B (eczema, but should have normal lymphocyte counts in infancy – if that IgA is high it would fit with WAS)?? I wonder if there is useful information missing. Young, FTT, candida, lymphopenic, eczema. IgG is still Mum’s. 

Note: T cell disorders – present earlier, more likely to cause FTT, more likely to be fatal than humoral disorders. Presentation in early infancy + candidiasis suggestive of T-cell defect.

A. SCID
Failure of differentiation of stem cells into T and B cells. 50% XL, 50% AR. Presents <3m wtih FTT; chronic diarrhoea common; GI/cutaneous candidiasis. Also respiratory infections, CMV, PCP, VZV, HSV. Lymphopenic (low T and B cells) with absent humoral and cellular immune function – hence abnormal T cell function tests and reduced IgG, A, M. No lymphoid tissue and absent thymus. Often presents with FTT, diarrhoea, rash (due to maternal-fetal GvHD) + bacterial (sinopulmonary)/viral (enterovirus)/ fungal /opportunistic infections (PCP).

B. Wiskott Aldrich syndrome
XL disorder of thrombocytopenia (small plts), eczema, immunodeficiency. Often presents at birth with bruising and petechiae. Eczema is typical distribution. COMBINED B and T cell immunodeficiency, mainly causing sinopulmonary infections, sepsis, meningitis; also viral/fungal infections (inc PCP) due to T-cell abnormality. Can have candidiasis. High risk of cancer – 20% chance of lymphoid neoplasm in adolescence; increased AI disease. IgA and E are HIGH but IgM is LOW.

C. X Linked Agammaglobulinaemia
FALSE: Symptoms typically present 4m+ once maternal IgG runs out. Expect sinopulmonary/skin/GIT infections with encapsulated bacteria (staph, salmonella, campylobacter, mycoplasma, giardia). IgG might be mother’s but should be low-absent concentrations of all other Ig

D. Chronic mucocutaneous candidiasis
FALSE. Usually only starts to manifest around 2 months. T cell abnormality with defect in cell-mediated immunity to candida. Results in chronic candida infection of skin/mucous membranes/nails. Humoral immunity intact. In ~50% there is an associated endocrine disorder, eg hypoPT, Addisons, T1DM. APECED = autoimmune polyendocrinopathy, candidiasis, ectodermal dysplasia.

E. Hyper IgE syndrome
FALSE. Causes skin and lung staph infections, often presents older (though the eczema does present within the first few weeks of life). AD combined B and T cell defect. Atypical eczema. Recurrent infections (almost invariably staph) of the skin, lungs (-> pneumatocoeles), sinuses, viscera. Coarse facial features. Delayed tooth exfoliation and osteopenia of unknown cause. Massively elevated IgE + eosinophilia + specific Ab/IgG subclass deficiencies. Variable neutrophil dysfunction. Th2 predominance leads to cytokine production imbalance (too much IL4 and IL5).

52

A toddler presents with dysmorphism, supravalvular aortic stenosis and hypercalcaemia. You suspect William’s syndrome.

What is the most useful test?

A. C banded chromosome analysis
B. FISH 7q11.23
C. G-banded chromosome analysis
D. Methylation studies of 7q11.23
E. ELAN gene analysis

B. FISH 7q11.23

Williams Syndrome:
Cause:
Deletion of about 26 genes from the long arm of chromosome 7 ELASTIN gene focus.

Supravalvular AS, peripheral PS. Hypercalcaemia, serrated teeth, carp shaped mouth, hypertelorism, small upturned nose, wide mouth, puffiness around eyes, cocktail-party chatter, stellate irides, MR, ‘Elfin’ facies

53

A mother brings her 6 month old baby to see you as she is concerned by wheeze (noisy breathing). He had a tracheooesophageal fistula repaired at birth, and has had the noisy breathing since being in hospital. He is now feeding well and thriving. On examination he has a barking cough and his chest is clear. What is the most likely cause for his symptoms?

A. Laryngomalacia
B. Tracheomalacia
C. Gastro-oesophageal reflux
D. Asthma
E. Recurrent aspiration pneumonia

54

A 6 year old child on antibiotic prophylaxis for congenital renal anomaly develops profuse diarrhoea. On examination the child looks unwell, there is ongoing diarrhoea with blood, and the stool sample shows Clostridium Difficile A Toxin.

Which of the following IV treatments is the most effective?

A. Vancomycin
B. Clindamycin
C. Metronidazole
D. Amoxycillin
E. Benzylpenicillin

55

A 17 year old boy presents with a 13 month history of increased alcohol intake and decreased mood. He has been drinking every day and binge drinks to the point where he passes out at least 3 times a week. He has tried to cut down but became nauseated, sweaty and tremulous. His GP has commenced him on venlafaxine for depressed mood and problems sleeping.

Which of the following is the best description of this boy’s condition?

A. Drug abuse
B. Drug dependence
C. Drug withdrawal
D. Drug intoxication
E. Drug interaction

56

A baby is born at 36 weeks with IUGR. Weight was on the 10th centile, Length 10th centile and head circumference 2nd centile. The child has increased respiratory effort and a photo is shown (has a blueberry muffin rash).

The most likely cause is:
A. CMV
B. Toxoplasmosis
C. Syphilis
D. Rubella
E. Parvovirus

57

An 8 month old boy presents with pallor and oedema. He has recently had an URTI from which he has not recovered. His sister also had an URTI but she has completely recovered. He was solely breastfed until he was 6 months, at which time foods were introduced with no problems. On examination he was oedematous, lethargic and pale. BP 85/55. The remainder of the examination was unremarkable.

  • Hb 65
  • MCV Low
  • WCC Normal
  • Plt 250
  • IgG 1.1 (low)
  • IgA low
  • IgM low
  • Urinalysis Normal
  • UEC Normal

The most likely cause of this presentation is

A. Coeliac disease
B. Cows milk enteropathy
C. Nephrotic syndrome
D. Scwachman Diamond Syndrome
E. X-linked agammaglobulinaemia

58

A 36/40 is intubated and ventilated. His chest x ray shows HMD. His ventilator settings are SIPPV , PIP 25, PEEP 7, FiO2 0.45 ventilator rate 40 and I time 0.4s. His blood gas is below:

  • pH 7.18
  • pCO2 78
  • Bicarb 21
  • O2 58 ( normal 60- )

What would you change to correct the acidosis.

A. Decrease PEEP
B. Increase PEEP
C. Increase PIP
D. Increase ventilator rate
E. Increase I time

59

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.

60

A 2 year old girl presents after a prolonged seizure in the setting of an URTI. She has a background of mild developmental delay and behavioral problems. On examination she looks well but has increased tone and reflexes and positive babinski reflex.
An MRI is shown below:

What is the diagnosis?

A. Adrenoleukodystrophy.
B. ADEM
C. Krabbe disease
D. Metachromatic leukodystrophy.
E. HHV6 encephalitis.

61

A photograph of an 18 month old girl is shown below.

What is the most common associated heart defect?

A. ASD.
B. Tetralogy of Fallot
C. Pulmonary stenosis.
D. Coarction of the aorta.
E. Hypertrophic cardiomyopathy.

62

The drug most likely to cause pancreatitis is:

A. Phenobarbitone
B. Phenytoin
C. Topiramate
D. Sodium valproate
E. Carbamezepine

63

A child’s glomerular filtration rate corrected for body surface area reaches adult values at:

A. Birth
B. 1 month
C. 3 months
D. 6 months
E. 9 months
F. 2 years
G. 6 years
H. 12 years

64

A 18 month old presents to ED with a history of having swallowed his grandmother’s hearing aid battery. He is not distressed, has a normal physical examination, including normal respiratory and gastrointestinal examination. A CXR is performed which shows the battery in the mid-oesphagus. How would you manage this child?

A. Discharge home and tell parents to monitor stools
B. Give milk.
C. Urgent endoscopy.
D. Induce vomiting with Ipecac.
E. Observe in emergency department and re-xray in 12 hours.

65

A 3 year old presents after a brief period of unresponsiveness. He is pale and sweaty and is pulse is difficult to identify. He is also hypotensive.

His ECG demonstrates is shown:

The most appropriate treatment is:
A. Vagal manouvre.
B. Intravenous adenosine.
C. Intravenous beta blocker.
D. Unsynchronised direct current (DC) shock.
E. Synchronised direct current (DC) shock.

66

A 3 year old boy presents with recurrent bilateral cheek swelling, and is diagnosed with recurrent parotitis. He has 10 previous episodes over the last 2 years, each lasting 3-5 days in duration. These episodes were associated with fever, erythema and tenderness over the area.
Which of the following tests would you perform to confirm a diagnosis of recurrent parotitis?

A. Anti-nuclear antibody.
B. Immunoglobulin G.
C. Bilateral ultrasound of parotids.
D. Sialogram.
E. Fine needle biopsy.

67

A 1 day old baby was noted to be hypoglycaemic. The hypoglycaemia responded well to a bolus of glucose and is now breast-feeding well. The newborn screening test shows MCAD and this is subsequently confirmed.

What is the most appropriate ongoing management of this baby?

A. Continue to breast-feed every 3 hours.
B. Breast-feed every 3 hours and provide cornstarch overnight.
C. Change to a standard formula given every 3 hours with MCT in it.
D. Continuous formula via NG tube.
E. Change to a standard infant formula given every 3 hours.

68

An 8 month old female presents with 3 days of diarrhoea and vomiting. She weighed 10kg at the beginning of the illness. She is assessed to be 8% dehydrated, has normal electrolytes. What is the volume of fluid that should be given to her over the next 24 hours?

A. 800ml
B. 1000ml
C. 1600ml
D. 1800ml
E. 2000ml

69

A 10 month old female is investigated for persistant cough. She had a febrile illness a few weeks earlier. Her chest radiograph shows a mass. MRI (coronal slice chest/abdo/pelvis) shows mass adjacent to spine in right lung field and left upper abdomen.

What is the most likely diagnosis?

A. Thymoma
B. Neuroblastoma
C. Germ cell tumour
D. Lymphoma
E. Rhabdomyosarcoma

70

A 10 month infant presents with constipation. The infant is found to be non- responsive, areflexic, with proximal weakness, and dilated pupils.

What is the cause for the infant’s presentation?

A. Spinal muscular atrophy
B. Infantile botulism
C. Congenital myasthenia syndrome
D. Group B streptococcal infection
E. Myasthenia gravis

71

(A newborn chest X Ray was shown with a chest drain in the right upper zone. Lung markings were visible in the right upper, but not lower zone. The mediastinum was not displaced.)

The newborn baby was retrieved from a peripheral hospital with tachypnoea and respiratory distress. He was diagnosed with a pneumothorax and a chest drain was inserted as shown. Following chest drain, he became more tachypnoeic, tachycardic and developed even further increased work of breathing.

The most likely diagnosis is:

A. Blocked Chest tube
B. CCAM
C. Lobar Emphysema
D. Bronchogenic cyst
E. Tension pneumothorax

72

A 6 year old Maori boy who is otherwise well presented with purulent ear discharge. The most likely organism is:

A. Staphylococcus aureus
B. Streptococcus pneumoniae
C. Streptococcus pyogenes
D. Pseudômonas spp.
E. Candida

73

2 year old boy presented with fever, pancytopenia, hepato-splenomegaly, elevated ferritin, LDH, ESR and CRP. Which virus is the most likely trigger for this disease.
(The histology diagram is similar to above, showing haemophagocytosis)

A. Adenovirus
B. Parvovirus
C. EBV
D. HIV
E. HSV
F. Human herpes virus 6

74

Which long-term complication following surgical correction of coarctation of the aorta gives the highest morbidity and mortality?

A. Aortic dissection
B. Cardiomyophathy
C. Endocarditis
D. Hypertension
E. Rupture of a berry aneurysm

75

A 14 year old boy with Duchenne’s Muscular Dystrophy presents with increasing tiredness during the day. His parents think he sleeps well at night, sleeping from 10pm to 7.30am. He wakes his parents up 3 times a night to turn him in bed. He doesn’t want to get up in the morning. The boy is wheelchair bound and requires a hoist to move him.

His FVC is 28%.

What is the cause of his tiredness?

A. Cardiomyopathy
B. Iron deficiency anaemia
C. Depression
D. Insufficient sleep
E. Nocturnal hypoventilation

76

Before commencing Infliximab (monoclonal antibody against TNFα for Crohn’s disease, what do you need to screen for?

A. CMV
B. Varicella
C Hepatitis B D Tuberculosis

77

A 10yr old girl is brought to see you because she is shy and becomes embarrassed when speaking in front of others. What is the most likely diagnosis?

A Social phobia
B Autism
C Depression
D Schizophrenia
E Generalised Anxiety Disorder

78

A 10 year old is referred to you with hypertension. He had a small ASD detected in infancy, which has remained asymptomatic. Over the past two years the GP has been getting high blood pressure readings for age. Most recently, he was flushed when he visited the GP and his BP was 145/80. When he visits your rooms his BP is 130/80. Examination and family history are unremarkable.

Which is the next most appropriate investigation:

A. Echocardiogram
B. CT renal angiogram
C. Renal US
D. Urinary catecholamines
E. Ambulatory BP monitoring.

79

Haemachromatosis is very common in the Australasian population. Given the incidence in the population is 1/400, what is the carrier frequency:

A. 1:5
B. 1:10
C. 1:50
D. 1:100
E. 1:200

80

A girl presents with right-sided facial weakness and crusting of the right ear as shown in the picture.

What other finding is most likely on examination:

A. Diploplia
B. Right Abducens weakness
C. Sparing of the forehead muscles on the right side
D. Loss of hearing on the right side
E. Loss of taste on the posterior third of the tongue.

81

An exhausted mother has just brought her 18 month old child into the emergency department at 4.30 PM and reported accidentally overdosing him with paracetamol (100mg/ml) as she misread the dosing instructions. She had given him the following doses of paracetamol prior to presentation:

8am 8 mL of paracetamol
12pm 8 mL of paracetamol
4pm 8 mL of paracetamol (which the baby vomited when she realised her mistake)

What is the best thing to do next?

A. Give the baby syrup of Ipenacchua and measure levels
B. Wait for 8PM and then measure levels
C. Measure levels and give N-Acetyl cysteine at 8PM
D. Measure levels and act accordingly

82

A 2 year old boy was brought to the Emergency Department with a history of being unwell for the last 3 days. He and was febrile, tachycardic and tachypnoec. A chest x-ray and a 12 lead ECG was performed and is provided below:

What is the most likely diagnosis?
A. ALCAPA
B. Myocardial infarction
C. Pericarditis
D. Pulmonary embolism

83

A 4 year old child has presented to you with history of recurrent throat infections over the last several months. They occur regularly at 3-5 week intervals and each episode lasts 3-5 days. When unwell, the child has a neutrophilia and cervical lymphadenitis but recovers completely from the episodes. A diagnosis of PFAPA (periodic fevers with aphthous stomatitis, pharyngitis, and adenitis) is made. What is the best treatment for this condition?

A. Cimetidine
B. Colchicine
C. Ibuprofen
D. Immunoglobulin
E. Prednisolone

84

Keppra is an anticonvulsive agent. The most common side effect is somnolence. What is the second most common side effect?

A. Diarrhoea
B. Constipation
C. Rash
D. Behavioural disturbance
E. Dizziness

85

A five year old presents with urinary frequency, urgency and bedwetting. There is no abnormality on examination or Urine microscopy and culture. The next appropriate investigation is:

A. Behavioral counseling
B. Renal Ultrasound
C. Urodynamics
D. MCUG
E. MAG 3

86

A 14 month old child with severe gastro-oesophageal reflux disease has failed a trial of elemental formula and proton pump inhibitors. What is the best method of feeding the patient whilst awaiting fundoplication?

A. Oral feeds with thickened formula
B. Nasogastric bolus feeds
C. Nasogastric continuous feeds
D. Nasojejunal bolus feeds
E. Nasojejunal continuous feeds

87

A 4 year old boy has focal segmental glomerulosclerosis and is on treatment with daily oral Prednisolone and oral Tacrolimus. He presents with fever, irritability, abdominal pain and has vomited twice. He has generalised abdominal tenderness. Investigations reveal an elevated white cell count, CRP and hypoalbuminaemia with 4+ protein on urine dipstick. You suspect bacterial peritonitis.

Which of the following is the most likely causative organism?

A. Escherichia coli
B. Pseudomonas aeruginosa
C. Staphylococcus aureus
D. Streptococcus pneumoniae
E. Streptococcus pyogenes

88

A 5 year old boy presents with poor sleep and breathing problems since his first attack of acute tonsillitis six months ago. His parents report that he snores very loudly and sometimes stops breathing in the middle of the night. They also complain that he is very sleepy and tired during the day despite having almost 11 hours of sleep every night.

Examination of his throat reveals the following (similar picture in exam)

What is the best form of management?

A. Adenotonsillectomy
B. Continuous positive airway pressure (CPAP) at night
C. Oral steroids
D. Oral antibiotics
E. Intranasal corticosteroids

89

A 5 year old girl presents with staring/blank spells. EEG shows 3Hz generalised spike and waveforms. Which anticonvulsant medication is relatively contraindicated in this type of epilepsy?

A. Carbamazepine
B. Sodium valproate
C. Ethosuximide
D. Topiramate
E. Phenytoin
F. Lamotrigine
G. Levetiracetam