2012 B Remembered Flashcards
You are counseling a couple who have been told their unborn child has probable Beckwith-Wiedeman syndrome. You discuss with them the various potential complications of the condition & they are particularly concerned about the risk of Wilm’s tumour.
Which of the following features of Beckwith-Wiedeman syndrome is most strongly associated with increased risk of Wilm’s tumour development in the future?
A. Hemihypertrophy
B. Macroglossia
C. Macrosomia
D. Omphalocele
E. Neonatal Hypoglycaemia
A. Hemihypertrophy
Risk of tumours is 4-7%, 60% are Wilms Tumours.
In Beckwith-Wiedemann syndrome the prevalence is about 1% of children with Wilms tumor.
Isolated hemihypertrophy prevalence is about 2.5% of children with Wilms tumor.
You are asked to review a child who can run, jump with 2 feet together & build a tower of 4-6 blocks. They are able to feed themselves with a spoon, combine words & name 6 body parts.
They have a developmental age of approximately:
A. 12 months
B. 18 months
C. 24 months
D. 30 months
E. 36 months
C. 24 months
Long acting β-agonists are not recommended as monotherapy in paediatric asthma management due to tolerance secondary to:
A. Depletion of secondary messengers
B. Increasing binding affinity for ß2 receptors
C. Internalization of ß2 receptor
D. Reduction of ß2 density
E. Upregulation of ß2 receptors
D. Reduction of ß2 density
14 year old boy who is cognitively stable developed left sided seizure (was it seizure or weakness, can’t remember). At 8 months old, he had right sided preference and developed clumsiness from left hand. MRI shows:
A. Band heterotrophia
B. pachygyria
C. Porencephalic cyst
D. Schizencephaly
E. lissencephaly
D. Schizencephaly
- Presence of unilateral or bilateral clefts within cerebral hemispheres due to abnormality of morphogenesis
- cleft fused or unfused (communicate between ventricles and extra-axial space) and, if unilateral and large, can be confused with porencephalic cyst
- borders of cleft often surrounded by abn brain esp micrgyria
- CT diagnostic
- Severe mental retardation, difficult to control seizures, microcephaly, spastic quadriparesis when clefts bilateral
- Unilateral schizencephaly – frequent cause of congenital hemiparesis
12y boy presents to ED pale and tachycardic with BP 90/60. ECG showed a regular, broad-complex tachycardia.
Normal cardiac exam, palpable pulse, possibly alert.
A. cardioversion
B. adenosine
C. amiodarone
D. vagal manouvre
E. lignocaine
A. Cardioversion
Broad complex tachy:
- Assume VT
- Stable – medical cardioversion with amidarone (DC shock or lignocaine considered after)
- Unstable – cardiovert (synchronous DC shock) – 0.5,1 then 2j/kg. can give amiodarone and lignocaine in between
Narrow complex
- likely SVT (can be sinus tachy)
- Stable – vagal manoeuvres, adenosine (medical cardioversion)
- Unstable – cardioversion (synchronous DC shock). Try above only if won’t delay cardioversion
34 weeks preterm, was diagnosed with capillary haemangioma located on right parietal area, at birth. On follow up after 2 weeks it has increased to 5 cm in size and has been bleeding, what would be the immediate management?
A. Intra-lesional steroid
B. Systemic/oral steroid
C. Propranolol
D. Laser surgery
E. Alfa Interferon
C. Propranolol
Propranolol now considered first line treatment
if rapidly growing/compromising vision.
Most rapid response seen with po steroids – reduce in size within 2wks.
Intra-lesional steroids can also be used.
Ulceration treated with meticulous wound care. If unsuccessful pulsed dye laser treatment may be a treatment option for ulcerations that do not respond to topical therapy.
A 2 month old girl presents with 2 days of fever and vomiting. Her temperature is 40C. Examination is unremarkable. She looks systemically well.
SPA results:
Micro:
Leukocytes: 100 x 106
Erythrocytes: 100 x 106
Epithelial cells: 0
Empiric treatment should be with:
A. Amoxycillin and Gentamicin
B. Cefotaxime and Gentamicin
C. Cefotaxime
D. Gentamicin
E. Trimethoprim and Sulphamethoxazole
A. Amoxycillin and Gentamicin
6 year old boy presents with six months of soiling. This occurs daily at home, but not at school. He has a low fibre diet. His parents are separated.
On examination he has a sad appearance and is overweight. Abdominal examination demonstrates fullness with palpable stool in the left iliac fossa.
What treatment would you institute first?
A. Cognitive Behavioural therapy
B. Family therapy
C. Laxatives
D. Dietary changes
E. Transcutaneous electrical stimulation
F. Anxiolytics
C. Laxatives
8 weeks old ex 35 weeks, presents with diarrhoea since birth. Serum tests show hyponatraemic, hypokalemia, hypochloremia and metabolic alkalosis. The diagnosis is
A. coeliac disease
B. barter syndrome
C. pyloric stenosis
D. sucrase isomaltase def.
E. congenital chloride losing diarrhoea
E. congenital chloride losing diarrhoea
Congenital Chloride Diarrhoea
- defect in Na+ independent Cl-/HCO3- exchanger within ileal and colonic epithelium – exchanger absorbs chloride from gastric acid and CFTR and secretes bicarb into lumen to neutralise acidity of gastric secretion
- prenatal sign – dilated small bowel, can be mistaken for BO
- severe life-threatening secretory diarrhoea during 1st weeks of life
- lab findings – metabolic alkalosis, hypochloraemia, hypokalaemia, hyponatraemia (high plasma renin and aldosterone), fecal Cl- >90mmol/L and exceeeds fecal sodium and potassium
- need lifelong KCL and NaCL substitution
- long-term complications – urinary infections, hyperuricaemia with renal calcifications, renal insufficiency, HTN
- febrile illnesses can exacerbate symtoms with severe dehydration and electrolyte imbalance
- PPIs, cholestyramine and butyrate to reduce diarrhoea
- Often symptoms regress with age
Sucrase isomaltase def
- rare, AR disorder
- complete absence of sucrase and reduced maltase digestive activity
- sucrase isomaltase is found in brush border of the small intestine. It catalyses breakdown of sucrose and starch/maltose to glucose and fructose
- note that sucrose is a non-reducing sugar and maltose is a reducing sugar
- symptoms – begin when exposed to sucrose of glucose polymer diet (eg non-lactose based formula, pureed food esp fruits)
- diarrhoea, abdo pain, poor growth
Pyloric stenosis
- hypochloraemic, hypokalaemic metabolic alkalosis secondary to vomiting due to thickened pylorus.
Bartter (and Gitelman syndrome)
- hypokalaemic metabolic alkalosis, hyperreninemia + polydipsia, polyuria
3 yo boy presents to GP with newly diagnosed murmur. The child is pink and has normal peripheral pulses. He has mild parasternal heave, normal 1st heart sound, split second heart sound with 3/6 ESM radiating to the back and loudest on the LUSE. ECG is shown - left superior axis, not much else…
A. Pulmonary stenosis
B. Primum ASD
C. Secundum ASD
D. Coarctation
E. Aortic stenosis
B. Primum ASD
ESM ULSE - mitral regurg
ECG - Left or superior axis deviation
Child undergoes induction for ALL and found to have cerebral venous thrombosis. Which of the following chemotherapy agent is associated with CVT?
A. Aspariginase
B. Daunorubicin
C. Dexamethasone
D. Methotrexate
E. Vincristine
A. Aspariginase
Drugs that enhance the risk of thrombosis include, most importantly, L-asparaginase and steroids. There have also been reports of CVT with vincristine.
Asparaginase-induced deficiency of antithrombin III, the most important endogenous anticoagulant, significantly increases the risk of sinovenous thrombosis in the brain.
It decreases protein synthesis, including synthesis of coagulation factors. About 2% of children treated with L-asparaginase develop hemorrhagic or nonhemorrhagic infarcts consequent to CSVT.
More common SE is anaphylaxis/allergic reaction and rarely pancreatitis.
The pedigree above is most likely due to which mode of inheritance
A. autosomal dominant with variable penetrance
B. chromosomal translocation
C. x-linked recessive
D. mitochondrial
E. not sure what the last one was - might have been autosomal recessive
B. chromosomal translocation
Fracture of forearm – some thought its buckled, some thought is displaced. Q is on management.
Midshaft – angulated >10/displaced/bowing deformity need manipulation,
otherwise backslab
Distal 3rd –
Buckle – below elbow backslab
Greenstick - >10yrs/>10 degrees angulation/deformity refer ortho otherwise above elbow backslab
Complete without angulation – above elbow backslab
A young girl is brought in with ongoing wheeze and barking cough. As a baby she had a tracheo-oesophageal fistula repair. What is the likely cause of her current symptoms?
A. Laryngomalacia
B. Tracheomalacia
C. Asthma
B. Tracheomalacia
Occurs in 15% of cases in TOF repair
A 3 day old infant is admitted to the Special Care Nursery with feeding difficulties. On examination there is severe hypotonia but no respiratory distress and deep tendon reflexes are preserved. There is no obvious facial weakness and no dysmorphism.
The most likely cause is:
A. Congenital myotonic dystrophy
B. Myotubular myopathy
C. Prader-Wili syndrome
D. Spinal Muscular Atrophy
E. Zellweger syndrome
C. Prader-Willi Syndrome
Congenital myotonic dystrophy and Myotubular myopathy would have facial weakness.
SMA would have reduced/absent reflexes
Zellweger – dysmorphism at birth
Prader willi dysmorphism is not obvious at birth and diagnosis often missed in earlier life. Hypotonic with feeding difficulties, no facial weakness and preserved DTR.
Stem talks about comparing criteria for major depressive disorder between child and adolescents with adults. Which criteria or symptom is more common or is present in child/youth/adolescent but not in adults?
A. Hypersomnia
B. depressed mood
C. irritable mood.
D. psychomotor agitation
E. poor concentration
F. feelings of worthlessness
C. irritable mood.
Five (or more) of the following symptoms have been present during the same 2-week period and represent a change from previous functioning; at least one of the symptoms is either (1) depressed mood or (2) loss of interest or pleasure.
Note: Do note include symptoms that are clearly due to a general medical condition, or mood-incongruent delusions or hallucinations.
(1) **depressed mood. **Note: In children and adolescents, can be irritable mood.
(2) anhedonia
(3) Weight loss (or inadequate weight gain in children)
(4) insomnia or hypersomnia nearly every day
(5) psychomotor agitation or retardation nearly every day
(6) fatigue or loss of energy nearly every day
(7) feelings of worthlessness or excessive or inappropriate guilt
(8) diminished ability to think or concentrate
(9) recurrent thoughts of death (not just fear of dying), recurrent suicidal ideation without a specific plan, or a suicide attempt or a specific plan for committing suicide
Xray of a boy with a left-sided pneumothorax. Which of the following activities should be avoided for the next 6 months?
A. Playing the saxophone
B. Scuba diving
C. Snorkelling
D. Flying in an aeroplane
E. Flying in a helicopter
B. Scuba Diving
From Up to Date
Commercial air travel in pressurized airplanes is not thought to precipitate recurrence of pneumothorax. However, because the consequences of a spontaneous recurrence occurring during air travel may be serious, guidelines for adults suggest avoidance of air travel until at least one week after full resolution of the pneumothorax. In addition, most authorities suggest avoidance of sports that involve extreme exertion and physical contact until the pneumothorax is fully resolved.
Activities such as deep sea diving or flying in small, unpressurized aircrafts are associated with increased risk of pneumothorax and should be avoided in individuals who did not undergo pleurodesis.
3 year old child with CP, longstanding history of GOR. Normal swallow on video fluoroscopy. On Omeprazole. Which is the following an indication for fundoplication?
A. Abnormal pH probe
B. Delayed gastric emptying on NM scan
C. Reflux to mid oesophagus on barium studies
D. Growth of 3rd percentile
E. Recurrent aspiration
E. Recurrent aspiration
Indications for reflux surgery
- Esophageal stricture
- Barrett’s esophagus (an absolute indication as this may end up in cancer )
- Life-threatening apnea (cessation of breathing) and recurrent aspiration pneumonia
- Large hiatal hernia
- Failure of maximal medical therapy to reduce severe symptoms
- Severe esophagitis (esophageal inflammation)
- Recurrent pneumonia, chronic lung disease, bronchospasm
- Failure to gain weight
Thiopurine methyltransferase (TPMT) level is useful for what chemotherapeutic agent to adjust dose and reduce toxicity prior to use?
A. Azathioprine
B. Cyclophosphamide
C. Cyclosporin
D. Methotrexate
E. Mycophenolate
A. Azathioprine
TPMT is an enzyme encoded by TPMT gene. TPMT is best known for its role in the metabolism of the thiopurine drugs such as azathioprine, 6-mercaptopurine and 6-thioguanine. TPMT catalyzes the S-methylation of thiopurine drugs.
Defects in the TPMT gene leads to decreased methylation and decreased inactivation of 6MP leading to enhanced bone marrow toxicity which may cause myelosuppression, anemia, bleeding tendency, leukopenia & infection.
10% of population have low activity so should be checked prior to tx
Beta thalassaemia and other haemoglobinopathies are at risk of iron overload with repeated blood transfusions.
What is an important complication?
A. Annular corneal deposits
B. Cardiomyopathy
C. High frequency hearing loss (sensorineural deafness)
D. Malar hyperplasia
E. Pathological bone fractures
B. Cardiomyopathy
- Cardiac – hypertrophy and myopathy.
- Pulmonary hypertension
- Liver cirrhosis and hepatocelllar ca
- Endocine – almost all glands
- Neutrophils – inc ferritin, reduced phagocytosis – inc yersinia abdo infections and hepatic abscesses.
- Desferioxamine should be stopped during infection
In boys with Klinefelters syndrome (XXY) which of the following is most likely to be present:
A. Antisocial behaviour
B. Height greater than three standard deviations above mid parental height
C. Infertility
D. IQ greater than 30 points lower than siblings
E. Macroorchidism
C. Infertility
- Most common congenital cause of hypogonadism (decreased testosterone with increased LH and FSH) and associated microorchidism.
- 47XXY
- May have gynaecomastia
- Often tall
- Difficulties with social interactions and learning from adverse experience
A nine year old with pain in the shoulders and thighs upon waking up and high creatine kinase has the following lesion on the hands. What’s the most likely diagnosis?
A. Polymyosistis
B. Dermatomyositis
C. Duchenne Muscular Dystrophy
D. SLE
E. RA
B. Dermatomyositis
Gottron lesions, scaly erythematous eruptions or red patches overlying the knuckles, elbows, and knees are a characteristic feature of Dermatomyositis. Other skin manifestations involve periungual telangiectasias and a heliotropic (purple) rash over the upper eyelids.
An 11 year old boy is rescued from a house fire. He has had 2 seizures. Saturations are 100% on face mask oxygen.
Blood gas is shown, demonstrating mild acidosis
CO2 27
CO Hb - 23
What is the most appropriate treatment for this child?
A. Heliox
B. ECMO
C. Hyperbaric oxygen
D. Haemodialysis
E. Methylene blue
C. Hyperbaric Oxygen
HbCO levels often do not reflect the clinical picture, yet symptoms typically begin with headaches at levels around 10%. Levels of 50-70% may result in seizure, coma, and fatality.
Treatment of poisoning:
- 100% oxygen OR
- hyperbaric oxygen therapy,
Oxygen works as an antidote as it increases the removal of carbon monoxide from hemoglobin, in turn providing the body with normal levels of oxygen. Half-life of CO at room air temperature is 3-4 hours. One hundred percent oxygen reduces the half-life to 30-90 minutes; hyperbaric oxygen at 2.5 atm with 100% oxygen reduces it to 15-23 minutes.
Normal CO levels are around 2% but can be upto 5% in smokers/living in industrialised areas
Methylene blue – used for methaemoglobulinaemia
A 4 year old girl has developed a rash on her hands 17 days after a living related HSCT for high risk ALL. The rash is itchy. It has not spread elsewhere on her body. Her liver function tests are normal.
Picture shown of non specific erythematous rash on palmar aspects of both hands, including fingers.
What is the most appropriate initial treatment?
A. Mycophenylate mofetil
B. Methotrexate
C. Topical steroid
D. Infliximab
E. Antithymocyte globulin
C. Topical Steroid
In most patients, the first (and most common) clinical manifestation of acute GVHD is a maculopapular rash, usually occurring at or near the time of the white blood cell engraftment. Topical steroids are the most commonly used skin-directed therapy for acute GVHD. Antihistamines may be used as adjuvant therapy for patients with pruritus.
Topical steroids differ in their strength, vehicle (eg, ointments, creams, lotions), and method of application. In general, for cutaneous GVHD, mid- to high-potency topical steroids are applied twice daily to moist skin and covered with warm wet towels as an occlusive measure (“wet wrap”). The choice of topical steroid and duration of therapy must take into account the location of disease.
A 6 hour-old infant is found to have a soft systolic murmur and tachypnea. Saturation measured from the right arm is 94% and the right leg 89%.
The finding is most consistent with which abnormality
A. Atrial septal defect
B. Interrupted aortic arch
C. Pulmonary stenosis
D. Transposition of the great vessels
E. Truncus arteriosis
F. Fallot’s tetralogy
G. Pulmonary atresia
H. Ebstein’s anomaly
(these potential answers are the combined listed from a few people)
B. Interrupted Aortic Arch
Interrupted aortic arch is characterized by interruption of the aortic arch distal to the left subclavian artery (Type A), proximal to the left subclavian artery (Type B), or between the innominate artery and the left common carotid artery (Type C).
Blood supply to arterial distributions proximal to the interruption is provided by the ascending aorta. Blood supply to arterial distributions distal to the interruption is provided by a patent ductus arteriosus. Arterial oxygen saturation proximal to the interruption is normal, while the arterial oxygen saturation distal to the interruption is lower than normal.
Closure of the patent ductus arteriosus in patients with interrupted aortic arch results in lower body hypoperfusion and acidosis. Infusion of prostaglandin E1 to maintain ductal patency is an important component of resuscitation and preoperative stabilization. Ventricular septal defect is a frequent association, especially with Types B and C. Surgical correction of this anomaly is performed during the neonatal period.
2 year old child presents with a 6 months history of sleep disturbance. He would wake up suddenly, thrash around and cry. This happens before the parents go to bed. They would go to him immediately but he would be inconsolable. They would hold him and talk to him, and he would eventually settle and go to sleep. The duration is 5-20 minutes. The symptoms started 3 months ago when he started day care. They have been progressively getting worse, now occurring almost daily. He goes to bed at 830pm and gets up at 630am. There are no other sleep related symptoms.
He has no other medical history and he is well. There is no family history of sleep disorders, but his father walked in his sleep until the age of 12 years.
A. Confusional arousal
B. Frontal lobe epilepsy
C. Gastroesophageal reflux disease
D. Nightmares
E. Separation anxiety
B. Frontal lobe epilepsy
- ?Nocturnal frontal lobe epilepsy – abnormal movts/yelling/moaning
- Confusional arousal – first 3rd of night. Confused/agitated/screaming/crying, remains inconsolable. Doesn’t recognise parents
- Nighmares – last 3rd of night
A 7 year old girl with type 1 DM presents for review. She is on NPH insulin BD and short acting insulin TDS. On review of her BSL book you suspect she frequently misses her midday dose. She reports waking in the early hours of the morning with hypoglycemia, which has occurred three times in the last two weeks.
On examination her BMI is >90th centile for her age and her HbA1c is 8.8%. She has lipohypertrophy of her abdomen. Which of the following is most likely to improve if she changes to glargine insulin?
A. BMI
B. HbA1c
C. Compliance
D. Night hypoglycemia
E. Lipohypertrophy
D. Night hypoglycemia
- Glargine/lantus has long mechanism of action of 18-26hrs with a peakless profile.
- NPH - onset of 1-4 hours. Its peak is 6-10 hours and its duration is about 10-16 hours.
- International clinical studies have confirmed the advantages of insulin glargine in the treatment of heavy hypoglycaemia compared to standard NPH insulin. Insulin glargine reduces the risk of severe nocturnal hypoglycaemia. Extensive clinical studies (ACCORD) have confirmed the higher risk of mortality with higher incidence of severe hypoglycaemia.
8yr old with abdominal pain and vomiting from last night. He is pale and tachycardiac and lethargic. On examination you note his lips look like this:
There is a picture:
Picture was not as clear as this…..it was magnified a bit and had the pixel effect of a blown up image!
What is the likely explanation for his presentation?
A. Crohns disease
B. Malrotation
C. Intusseception
D. ?
E. Rectal polyps
C. Intusseception
Peutz-Jeghers
A 4yr old girl is attending clinic. She has Type 1 DM and is on NPH insulin twice a day and short acting three times a day. On examination she has mild lipohypertrophy, her BMI is 30 and HbA1C is 8.8. She admits missing her lunch time needles some days saying she forgets. Her records show she has had 3-4 hypoglycemic episodes in the past month. What will be the most likely effect when she is commenced on basal insulin [glargine]?
A. Improvement of lipohypertrophy
B. Improvement of HbA1C
C. Reduction of BMI
D. Improvement of compliance
E. Reduction in hypoglycemic episodes.
E. Reduction in hypoglycemic episodes.
Antipsychotic medications such as risperidone and haloperidol are used by paediatricians to treat Tourette syndrome, and the symptoms of aggression and anxiety in autism. An acute side effect of these medications is painful and distressing muscle spasms. These can be reversed by which of the following?
A. Benztropine.
B. Cyproheptadine.
C. Diazepam.
D. Flumazenil.
E. Naloxone
A. Benztropine.
Benzatropine is an anticholinergic - antagonizes the effect of acetylcholine, decreasing the imbalance between the neurotransmitters acetylcholine and dopamine, which may improve the symptoms of early Parkinson’s disease.
Benzatropine is also a dopamine Reuptake inhibitor, which makes it useful for people with extrapyramidal symptoms who take antipsychotics.
Intractable Cardiac failure is a major cause of death in Frederich’s ataxia. Surveillance for which of the following should be undertaken?
A. Atrial arrhythmias
B. Ventricular arrhythmias
C. Hypertrophic cardiomyopathy
D. Restrictive cardiomyopathy
E. Dilated cardiomyopathy
C. Hypertrophic cardiomyopathy
A 6 year old boy presents with a 6 week history of severe urinary frequency. He passes small volumes of urine every 10-15 minutes in the daytime, and gets up once at night to void. He has a maternal uncle with diabetes and his family is concerned that he may have diabetes.
His urinalysis is normal except 1+ glucosuria. His urine osmolarity is 650mosm/L What is the most likely diagnosis?
A. Diabetes mellitus
B. Diabetes insipidus
C. Detrusor muscle instability
D. Psychogenic
E. Daytime frequency syndrome
E. Daytime frequency syndrome
- serum osmolality: 282 - 295 mOsm/kg water; a serum osmolality of 285 mOsm usually correlates with a urine specific gravity of 1.010
- Urine osmolality: can range from 50 - 1400 mOsm/kg water, but average is about 500 - 800 mOsm. After an overnight fast, the urine osmolality should be at least 3 times the serum osmolality
- After 12-14 hours of restricted fluid intake, urine osmolality should be > 850mOsm/Kg. A 24 hour urine osmolality should average between 500 and 800 mOsm/Kg. A random urine osmolality should average 300 and 900 mOsm/Kg.
- Benign glycosuria can occur from a reduction in renal threshold
A six year old boy with Trisomy 21 presents with a deterioration in his school performance. Which of these is the most likely reversible cause?
A. cataracts
B. conductive hearing loss
C. coeliac disease
D. depression
E. hypothyroidism
E. Hypothyroidism
A child with ALL and a central line presents with fever. Cultures are taken from the line and blood. Candida is initially grown from the culture taken from the line. What is the next appropriate step in management?
A. remove the line and treat with Amphotericin
B. keep the line and treat with Amphotericin
C. remove the line and treat with Fluconazole
D. keep the line and treat with Fluconazole
E. keep the line and don’t treat.
A. remove the line and treat with Amphotericin
Amphotericin is an antifungal which alters the cell wall of fungi, leaking contents causing subsequent cell death.
Picture of about a 4-5yo with grossly swollen left testes with swelling into the groin and supra-pubic. No evidence of balanitis.
Stem: Mother noticed acute swelling, otherwise well - non-tender testes. What is the most likely diagnosis?
A. Epididymoorchitis
B. Cellulitis
C. Idiopathic testicular swelling
D. Henoch-Scholein Purpura
E. Torsion
C. Idiopathic scrotal oedema
Bland violaceous oedema of scrotum, extending into perineum + penis; testes not tender. No sequalae
Stem: Neonate, few days old had a NG placed - murmur 3/6 systolic. Picture demonstrated cardiomegaly with NG in situ. Enlargement of which cardiac area causes deviation of the NG in this clinical scenario?
a. LA
b. LV
c. RA
d. RV
e. Aorta
A. LA
LA enlargement can cause posterior deviation of the oesophagus – seen on lateral cxr. Massive increase would cause oesophageal compression. Can occur from VSD with moderate to large shunts.
A two year old boy presents to you with a lesion in his scalp. He has never had hair grow in the distribution shown. Aside from this, he is well with normal development.
(the actual image had a slightly more uniform red base) What lesion is this most likely to be?
A. Alopecia
B. Cutis Aplasia
C. Lipoma
D. Tinea Capitis
E. Shagreen patch
B. Cutis aplasia
- Tinea capitis – would be acquired
- Cutis aplasia – congenital scars / congenital absence of skin. Most common congenital cicatricle alopecia
A Day 3 neonate presents with cyanosis and tachypnoea. He has a systolic murmur and saturation is 87%. His ECG is given below:
The most likely cause for this presentation is
A. Critical pulmonary stenosis
B. Tricuspid atresia
C. Tetralogy of Fallot
D. Truncus Arteriosus
E. Transposition of the great arteries
B. Tricuspid atresia
Cyanotic heart disease with LAD due to hypoplastic RV. Tall P wave in V2.
Single second heart sound (due to tricuspid atresia!!) and systolic murmur LSE.
A 6yo girl is seen with a neck lump for weeks and breathlessness for 1 day. On examination there are reduced breath sounds in the base of the left lung and she prefers to sit upright. A CXR and urgent CT are shown
The most likely diagnosis is
A. Neuroblastoma
B. Non-hodgkin’s Lymphoma
C. Sarcoma
D. Tuberculosis
E. Teratoma
F. amyloid
G. sarcoidosis
(note spleen was also prominent on the CT in the real exam.)
B. Non-hodgkin’s Lymphoma
The picture shows a 3 yo boy who presents with significant delay in global development. He is unable to walk without assistance, is non-verbal and has a generalised seizure disorder. He displays bouts of unexplained laughter , loves playing with water and constantly mouths objects.
The real picture was similar(face and teeth), but the child had a dummy in the mouth.
The most likely diagnosis is
A. Angelman Syndrome
B. William Syndrome
C. Fragile X
D. Autistic Spectrum
E. Landau Kleffner
A. Angelman Syndrome
Angelman syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.
Maternal deletion/inactivation of 15q11-13.
Prada-Willi is paternal deletion/inactivation of the same.
(“daddy’s little willi and mummy’s little angel”)
A woman with antenatal US at 22 weeks suggestive of thoracic abnormality. She delivered normaly, CXR of baby at 4 hours of age .
What is diagnosis based on CXR?
a. CAM
b. Bronchogenic cyst
c. Bronchial sequestration
d. Diaphragmatic hernia
e. Pneumonia
d. Diaphragmatic hernia
Comparing potency of Prednisolone to Dexamethasone what is the ratio?
A. 1:6
B. 1:4
C. 2:1
D. 4:1
E. 6:1
A. 1:6
A 3 day old baby presents with a loud systolic murmur and mild cyanosis (SpO2 of 86% on air), and has the following ECG:
The most likely diagnosis is:
A. Ebsteins anomaly
B. Truncus arteriosis
C. Critical pulmonary stenosis
D. AVSD
E. Tricuspid atresia
A. Ebsteins anomaly
ECG:
- RBBB
- RAD
- WPW
- Tall P waves
- Long PR Interval
A 8year old male presents with a 4 day history of right sore and swollen elbow. This has been noted by his mother to be swollen. Has woken up last 3 nights from sleep complaining of pain. Examination notes swollen and tender right elbow.
History of fall of bike 3 months ago and noted similar pain in right elbow. Was reviewed by GP at that stage with normal examination. Nil xray done at time.
Xray done today shown below:
A. Bony cyst
B. Chronic osteomyelitis
C. Ewings sarcoma
D. Healing fracture
E. Rickets
C. Ewings sarcoma
- Usually long bones of extremities
- Localised pain/swelling weeks/months duration
- Minor trauma usually initiating event calling attention to tumour
- Constitutional symptoms or signs, such as fever, fatigue, weight loss, or anemia, are present in about 10 to 20%
- 2nd most common primary malignancy of bone
- Usually affects adolescents.
A 1 day old infant presents with cyanosis and tachypnoea. Normal heart sounds with 3/6 PSM over LLSE.
Xray shown below
Most likely diagnosis
A. Ebsteins anomaly
B. Persistent fetal circulation
C. Tetralogy of fallot
D. Transposition of the great arteries
E. Truncus arteriosus
A. Ebsteins anomaly
A 6 year old girl has a history of persistent cough and recurrent ear infections. CXR is:
Which on of the following is who most at risk of:
A. ?
B. bowel obstruction
C. sensorineural hearing loss
D. infertility
E. structural cardiac defect
D. Infertility
CXR shows dextrocardia which is associated with immotile cilia syndrome (aka primary ciliary dyskinesia).
Characterized by chronic cough, bronchiectasis, chronic rhinitis, and chronic sinusitis.
Decreased fertilitiy - in males due to immotile sperm (sperm otherwise ok) and females <50% successfully complete pregnancy.
An 8 year old boy presents with a four week history of intermittent abdominal pain and diarrhoea containing streaks of blood and mucous. Over the last six days he has had worsening left sided abdominal pain and pain in both legs. His weight is on the 93rd centile and his height on the 50th centile. On examination you notice lesions on his legs (as pictured below).
Your initial investigation findings are:
- Hb 193
- MCV 76
- CRP 81
- WCC 8.2
- Neutrophils 3.3
- Lymphocytes 2.1
- Monocytes 0.4
- Eosinophil 0.04
The most likely diagnosis is:
A. Bacterial gastroenteritis
B. Coeliac disease
C. Henoch Schonlein Purpura
D. Campylobacter
E. Inflammatory bowel disease
E. Inflammatory bowel disease
Image shows erythema nodosum, seen in IBD.
An 8yo boy presents with recurrent haematuria. He is asymptomatic and has been otherwise well. His mother tells you that his uncle commenced dialysis at the age of 20.
His urine analysis shows:
- WCC <10
- RCC >500
- Epithelial cells <10
Electronmicrography of the renal biopsy shows: (image)
Immunofluorescence is normal.
The likely diagnosis is
a. SLE
b. IgA nephrophathy
c. Alport syndrome
d. Post strep glomerulonephritis
c. Alport syndrome
