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1-A 14-year-old boy presents with pink urine following a boxing match. Full term normal delivery with no neonatal complications. Immunisations up to date. There is no FH/SH of note. On examination he is apyrexial and well. Respiratory rate 12/min and pulse 65/min. Tender in the left loin on bimanual palpation. What is the most likely diagnosis? (Please select 1 option) Adult polycystic kidney disease Benign familial haematuria Post-streptococcal glomerulonephritis Trauma Correct Urinary tract infection The history of haematuria and finding of loin pain suggests renal trauma. The extent of damage can be assessed by USS of KUB. Minor trauma will usually settle spontaneously. 2-A 3-year-old boy goes to a children's party and eats some peanuts. Almost immediately he spits them out, and runs to his mother saying his mouth hurts. She notes a rapidly developing raised itchy rash over his face, and that his eyes, lips and tongue are swelling. He begins to have marked difficulty in breathing with audible stridor. An ambulance is called. On the arrival of the paramedics he has collapsed and appears unconscious. He has shallow breathing at 10/min, HR 160/min (thready pulse), and is responding only to pain. What is the most likely diagnosis? (Please select 1 option) Acute severe asthma Anaphylaxis Correct Croup Foreign body aspiration Trauma The history is of anaphylactic shock in response to peanuts. After attention to airway and breathing he requires IM adrenaline, then IV steroids and
Transcript

1-A 14-year-old boy presents with pink urine following a boxing match. Full term normal delivery with no neonatal complications. Immunisations up to date. There is no FH/SH of note.

On examination he is apyrexial and well. Respiratory rate 12/min and pulse 65/min. Tender in the left loin on bimanual palpation.

What is the most likely diagnosis?

(Please select 1 option)

Adult polycystic kidney disease

Benign familial haematuria

Post-streptococcal glomerulonephritis

Trauma Correct

Urinary tract infection

The history of haematuria and finding of loin pain suggests renal trauma. The extent of damage can be assessed by USS of KUB. Minor trauma will usually settle spontaneously.

2-A 3-year-old boy goes to a children's party and eats some peanuts. Almost immediately he spits them out, and runs to his mother saying his mouth hurts. She notes a rapidly developing raised itchy rash over his face, and that his eyes, lips and tongue are swelling. He begins to have marked difficulty in breathing with audible stridor. An ambulance is called.

On the arrival of the paramedics he has collapsed and appears unconscious. He has shallow breathing at 10/min, HR 160/min (thready pulse), and is responding only to pain.

What is the most likely diagnosis?

(Please select 1 option)

Acute severe asthma

Anaphylaxis Correct

Croup

Foreign body aspiration

Trauma

The history is of anaphylactic shock in response to peanuts. After attention to airway and breathing he requires IM adrenaline, then IV steroids and antihistamines and nebulised salbutamol. Fortunately anaphylactic shock is rare.

3-A 4-year-old girl presents with extensive bruising over the trunk, legs and palate. She had an URTI 4 weeks ago, but has otherwise been well. 39+5/40 3.8kg delivery, with no neonatal problems. No FH of note.

On examination she is well. Temperature is 36.7°C (tympanic), HR 90/min, RR 20/min. Extensive fresh bruising of irregular shape over trunk, thighs and shins. Old bruises over shin.

What is the most likely diagnosis?

(Please select 1 option)

Acute lymphoblastic leukaemia

Child physical abuse

Henoch Schoelein purpura

Idiopathic Thrombocytopaenic Purpura Correct

Meningococcal septicaemia

This girl had a presumed viral illness a month ago and now presents with sudden onset of extensive bruising. The likely diagnosis is Idiopathic thrombocytopaenic purpura. This can be confirmed by an FBC and film, which shows isolated thrombocytopaenia, often <10X1012/l. Most can be managed conservatively, with the platelet count recovering spontaneously over 1-4 weeks. IVIG or steroids may accelerate recovery. If steroid therapy is contemplated it should be preceded by a bone marrow biopsy to exclude an thrombocytopaenic presentation of leukaemia.

4-A 9 month old boy presents with a 24 history of fever and poor feeding. He has become less responsive and has developed a purple rash over his arms and trunk. 40+2/40, 3.03kg, no neonatal problems. No drugs. Fully immunised. No FH or social history of note.

On examination temperature is 38.2°C, RR 50/min (mild recession, HR 150/min. Cool peripheries, with capillary refill time of 4 seconds. Non-blanching purple spots 3-27mm over the arms and trunk.

What is the most likely diagnosis?

(Please select 1 option)

Child physical abuse

Henoch Schoelein purpura

Idiopathic Thrombocytopaenic Purpura

Meningococcal septicaemia Correct

Pneumococcal septicaemia

The history is brief, with a sick, shocked child with purpura. The diagnosis is purpura fulminans, probably due to septicaemia. The 3 commonest organisms which cause this are meningococcus (esp. B, A and C), pneumococcus and Haemophilus influenzae (esp. B). The

incidence of Meningitis C and Hib have declined dramatically since the introduction of routine immunisations.

5-A 9-year-old girl presents with a history of clear nasal discharge for several weeks, accompanied by sneezing and red eyes. This has happened for the last 2 spring times. Full term normal delivery, no neonatal problems. Immunisations up to date. No family or social history of note.

On examination she is apyrexial and well. She has clear rhinorrhoea, is constantly rubbing her nose and eyes, and has bilateral non-purulent conjunctivitis. She breathes through her mouth.

What is the most likely diagnosis?

(Please select 1 option)

Allergic rhinitis Correct

Nasal foreign body

Sinusitis

Vasomotor rhinitis

Viral URI

The history of seasonal sneezing, nasal discharge and eye irritation suggests an allergic rhinitis. The timing depends on the allergens, but typically is Spring time for wind-borne tree and weed pollens. Treatment is with antihistamines or topical steroids.

6-A 6-year-old girl presents with cervical lymphadenopathy of 3 months standing, which has increased progressively in size. She has been off colour with a chronic cough and hoarse voice. Full term normal delivery, no neonatal problems. Immunisations up to date. No family or social history of note.

On examination the temperature is 36.8°C, respiratory rate 20/min and pulse 85/min. Looks unwell and thin. 3rd centile for weight, 25% for height. Massive rubbery enlargement of right cervical glands, which are non-tender. No overlying erythema. Otherwise well.

What is the most likely diagnosis?

(Please select 1 option)

HIV

Infectious mononucleosis

Kawasaki disease

Lymphoma Correct

Mycobacterial adenitis

The progressive enlargement of nodes over several months without associated inflammation suggests malignant infiltration. The abnormal voice suggests involvement of the recurrent laryngeal nerve. Assessment will require chest X-ray and MRI or CT of neck and thorax, and lymphnode biopsy. Prognosis will depend on staging and histology (including molecular tests).

7-A 15 month old boy presents with high fever of 6 days duration, rash, tender neck glands, red eyes and cracked lips. Full term normal delivery with no neonatal complications. Immunisations up to date. There was no FH/SH of note.

On examination:

temperature38.9°C

Respiratory

rate30/min

Heart rate120/min

The rash is maculopapular erythematous and blanching. The hands and feet are swollen. He has tender cervical gland enlargement, non-purulent conjunctivitis and prominent tongue papillae. He is miserable and clingy

What is the most likely diagnosis?

(Please select 1 option)

Kawasaki disease Correct

Measles

Rubella

Scarlet fever

Toxic shock syndrome

The history is classical of Kawasaki disease (muco-cutaneous lymphnode syndrome). The features described fulfil the international criteria, the diagnosis being purely clinical. Often there is elevation of CRP, ESR and platelet count. IVIG 2g/kg should be given within the first 10d of illness to reduce the risk of coronary artery aneurysm.

8-A 17-year-old male presents to A+E after an overdose of alcohol and paracetamol. He complained of abdominal discomfort and an intravenous infusion of N-Acetylcysteine was commenced. 15 minutes later he developed breathlessness, reported feeling flushed and developed a tachycardia.

What is the most likely explanation for this reaction?

(Please select 1 option)

A disulfiram-like (antabuse) reaction has occurred

The patient has had a panic attack

The patient has developed pulmonary oedema Incorrect answer selected

The patient has received an overdose of N-Acetylcysteine

The patient has received N-Acetylcysteine previously This is the correct answer

This patient is having an acute hypersensitivity reaction the most common, dose independent adverse drug reaction. It is caused by previous exposure and being sensitised to the drug. The initial exposure induces the production of antibodies of Ig E class, subsequent exposure induces an immunological reaction - anaphylaxis. Some drugs can produce an similar pseudoallergic reaction on first exposure.

9-A 10-year-old boy presents with a history of diarrhoea over the past 3 months. This is loose, occasionally admixed with blood, and occurs up to 4 times per day. He has felt unwell and lacking in energy, and has occasional griping abdominal pain. Previous history is unremarkable. He is fully immunised and on no medications. There is no FH/SH of note.

On examination he is pale and has early clubbing. He is on the 25% for height and the 3% for weight. Temperature is 37.2C, Respiratory rate 15/min and pulse 80/min. The abdomen is diffusely tender and anal examination reveals an anal fissure and small tag.

What is the most likely diagnosis?

(Please select 1 option)

Coeliac disease

Crohn’s disease Correct

Perianal abscess

Shigella gastroenteritis

Ulcerative colitis

The chronic bloody diarrhoea, systemic upset, pallor, clubbing and perianal findings make Crohn's disease the likeliest diagnosis. This can be confirmed histologically by upper and lower GI endoscopy and biopsy (non-caseating granulomata). Barium series help to define the extent of disease, which can affect from the mouth to the anus.

10-A 14-year-old girl was found unconscious at the roadside by a passer-by, who called an ambulance.

On examination she was unkempt, had slurred speech and an ataxic gait. Her core temperature was 34.5C, but there were no other specific abnormalities to find. Her BM stix result was 2.9 mmol/l.

What is the most likely diagnosis?

(Please select 1 option)

Alcohol ingestion Correct

Complex partial seizure

Encephalitis

Insulin overdose

Migraine

The picture suggests acute alcohol ingestion. This is often accompanied by hypothermia and hypoglycaemia.

It is important to exclude other ingestions and to look for coexisting social problems.

11-A 2-year-old girl presents with a raised itchy rash. She had been eating a chocolate bar when she spat it out saying it hurt her mouth. Within minutes the rash had appeared over her face and trunk. She was 39+1/40 weighing 3.25kg and there were no neonatal problems apart from cradle cap. She has been fully immunised to date. There is a family history of asthma.

On examination she has a florid raised rash over her face. Some of the lesions are coalscing. She is scratching, but breathing and tongue size are normal. Her temperature is 36.9°C (tympanic), Respiratory rate 30/min, and heart rate of 100/min.

What is the most likely diagnosis?

(Please select 1 option)

Atopic dermatitis

Contact dermatitis

Impetigo

Scabies

Urticaria Correct

The history suggests an urticarial reaction to one of the components of the chocolate bar. Manufactured foods make it difficult to identify the offending substance. Treatment is with antihistamines prn and avoidance of known precipitants.

12-A 16-year-old male presents with acute severe asthma. On examination his peripheral pulse volume fell during inspiration.

Which one of the following is the most likely explanation for this clinical sign?

(Please select 1 option)

The cardiac effect of high dose beta agonist bronchodilator drugs

A falling heart rate on inspiration

Myocardial depression due to hypoxia

Peripheral vasodilatation

Reduced left atrial filling pressure on inspiration Correct

This patient is demonstrating pulsus paradoxus. The right heart responds directly to changes in intrathoracic pressure, while the filling of the left heart depends on the pulmonary vascular volume. At high respiratory rates, with severe air flow limitation (eg acute asthma) there is an increased and sudden negative intrathoracic pressure on inspiration and this will enhance the normal fall in blood pressure.

13-A 16-year-old girl presents with a 2 day history of deteriorating breathlessness and dyspnoea. Blood gas analysis shows a pH of 7.25, a PCO2 of 7.0kPa, a PO2 of 8.5kPa, and a base excess of -4. Which of the following interpretations is correct?

(Please select 1 option)

Results are consistent with bronchopulmonary dysplasia.

Blood gases suggest type 1 respiratory failure.

Immediate intubation is required.

Results are consistent with late severe asthma. Correct

Bicarbonate may be necessary to correct the acidosis.

In interpreting blood gas results, the following sequence may be useful:

Inspect the pH: Is it low, normal or high?

Inspect the CO2: Is it low, normal or high?

Inspect the PO2: Is it low, normal or high?

If the pH is low then an acidosis is present, and inspecting the CO2 will enable you to determine whether this is due to respiratory or metabolic causes. Inspecting the PO2 will tell you whether the patient is hypoxic or not. In this case, the pH is reduced, and the CO2 is high, with a base deficit of only -4, insufficient to explain the acidosis from metabolic causes. This is, therefore, a respiratory acidosis, and

the PO2 is also low suggesting type 2 respiratory failure. Possible causes would include severe pneumonia, end stage asthma or neurogenic causes such as guillain-Barre. In asthma, the initial stages show a low CO2, with this climbing only to accompany failing respiration. The results would therefore be consistent with late severe asthma. In bronchopulmonary dysplasia, there is usually long-term CO2 retention with compensatory increase in bicarbonate leading to a positive base excess and normal pH. Bicarbonate is usually only considered if the base deficit exceeds about -8.

14-A 16-year-old girl is diagnosed with Turner's syndrome. Which of the following autoimmune conditions is most commonly associated with Turner's?

(Please select 1 option)

Addison's disease

Autoimmune hepatitis

Hashimoto's thyroiditis Correct

Sjogren's syndrome

Vitamin B12 deficiency

Hypothyroidism is quite common occurring in up to 24% of patients with Turner's syndrome. It is typically autoimmune in origin - Hashimoto's thyroiditis though the exact explanation for its high prevalence is not known.

15-A 17-year-old boy whose brother had hypertrophic cardiomyopathy was referred for a cardiological assessment. His echocardiogram confirmed the condition.

Which one of the following echocardiographic features is the most important risk factor for sudden cardiac death?

(Please select 1 option)

A gradient of 10 mmHg across the left ventricular outflow tract

Significant thickening of the interventricular septum Correct

An enlarged left atrium

Systolic anterior motion of the mitral valve

The presence of mitral regurgitation

In hypertrophic obstructive cardiomyopathy the cause of death is usually ventricular tachycardia or ventricular fibrillation and therefore the thicker the muscle the more abnormal the cardiac architecture and the higher the risk of arrhythmia and sudden death.

16-A 7 month old boy presents with a history of cough, fever and difficulty in feeding for 3 days. He has become progressively more breathless. On admission he has a fever to 38.9°C and looks unwell. His respiratory rate is 65/min with moderate recession. FBC showed a White cell count of 25.7 x109/L (4-11 x109)[82% neutrophils]. The C-reactive protein was 145 mg/L (<10).

What is the most likely diagnosis?

(Please select 1 option)

Aspiration pneumonia

Asthma

Bronchiolitis

Cystic fibrosis

Pneumococcal pneumonia Correct

The picture is suggestive of a bacterial infection. The rapid respiratory rate suggest a lower respiratory infection, with pneumonia the number one suspect. Most bacterial cases are caused by pneumococcus and respond to penicillin.

17-A 12-year-old afro-caribbean girl presents with fever, malaise, and joint pains of 3 months duration. She was previously well. Full term normal delivery, no neonatal problems. Immunisations up to date. No family or social history of note.

On examination the temperature is 37.6°C, respiratory rate 14/min, pulse 80/min and Blood Pressure is 100/70 mmHg. She appears subdued and well perfused. She has a scanty rash over her cheeks. She has generalised joint tenderness on extremes of movement, but there is no obvious effusion not warmth in them. She has 2+ haematuria and 2+ proteinuria.

What is the most likely diagnosis?

(Please select 1 option)

Chronic multifocal osteomyelitis

Reactive arthritis

Septic arthritis

Sickle cell crisis

Systemic lupus erythematosis Correct

The prolonged history of fever, malaise, joint pains, malar rash and renal involvement point to a multisystem disease. In this ethnic group SLE is the most likely diagnosis. This can involve any system and is a great mimic. Treatment is with NSAIDs for joints plus immunosuppressives for the renal involvement. Therapy may be difficult and prolonged.

18-A 5-year-old boy presents with recurrent ear pain and fever. Every time he gets a cold he develops ear pain and receives antibiotics from the GP. He has about 6 episodes a year. He was born at term weighing 2.9kg and there were no neonatal problems. He is fully immunised. Parents are both smokers.

On examination he has a temperature of 38.0°C, respiratory rate of 15/min and pulse of 90/min. He has shotty slightly tender cervical nodes. His left eardrum is red and bulging. Throat examination is normal.

>p>What is the most likely diagnosis?

(Please select 1 option)

Group A streptococcal pharyngitis

Mastoiditis

Otitis media with effusion

Otitis media, acute Incorrect answer selected

Otitis media, recurrent This is the correct answer

The history suggests recurrent episodes of acute otitis media with each URTI. If these are progressively causing damage (eg eardrum scarring) prophylactic antibiotics and investigations for minor immune deficiency may be considered. Most improve with age.

19-A 12 day old girl presents with poor feeding, vomiting and lethargy. Born at 37+6/40, 2.98kg, no neonatal problems. Uncomplicated pregnancy and delivery. No drugs or medications. No immunisations. No FH/SH of note.

On examination she is thin and wasted. She has occasional twitching of the eyelids and mouth. She responds slightly to voice. Weight <3%, OFC 25%, temperature is 36.5°C (tympanic), RR 40/min, HR 150/min. Chest clear, no murmur. No organomegaly. No rash or dysmorphic features.

What is the most likely diagnosis?

(Please select 1 option)

Congenital adrenal hyperplasia

Congenital heart disease

Inborn errors of metabolism Correct

Sepsis

This child is dehydrated, vomiting and lethargic. Examination suggests possible subtle fits. Although infection and a cardiac abnormality are possible, a metabolic condition should be strongly suspected. Evaluation should include electrolytes, NH4, blood gases, serum and urine aminoacids, and urine organic acids.

20-A 17 month old boy has been completely well and playing with his toys. Mother hears him coughing and choking and rushes next door. She finds him gagging and retching, drooling and red in the face. He was born at 37+3/40 weighing 3.7kg and there were no neonatal problems.

On examination his temperature is 36.9°C, RR 30/min, HR 130/min. He looks slightly cyanosed with an O2 saturation of 85% in air. He has marked stridor and moderate recession.

What is the most likely diagnosis?

(Please select 1 option)

Retropharyngeal abscess

Foreign body aspiration Correct

Anaphylaxis

Croup

Peritonsillar abscess

The history suggests aspiration of a foreign body. Small objects, such as toys, are the commonest offenders. They can give rise to acute obstruction, or there may be a latent period when symptoms settle before inflammation around the object gives rise to symptoms. Assessment requires a chest X-ray, which will locate radioopaque objects, and bronchoscopy to remove the object.

21-A 4-year-old girl develops a fever 14 day after returning from a family visit to India. At the height of fever she feels shivery and cold. She has previously been well. Full term normal delivery with no neonatal complications. Immunisations up to date. There is no FH/SH of note.

On examination she has a fever to 39.8°C, Respiratory rate 20/min and pulse 100/min. Chest and ENT examinations are normal. She is shivering violently. She has 3 cm spleen, which is smooth and non-tender.

What is the most likely diagnosis?

(Please select 1 option)

HIV infection

Infectious mononucleosis

Kala-azar

Malaria Correct

Schistosomiasis

The history of fever, rigors and splenomegaly in a child returning from an endemic area suggests malaria. Thick and thin blood smears should be taken. Malarial resistance is an increasing problem, and the latest information should be obtained about the area of disease acquisition to ensure proper treatment.

22-A mother is concerned because her one-year-old girl was in contact with measles 2 days previously. Which one of the following statements is correct.

(Please select 1 option)

Nothing can be done to affect the course of the disease.

Gamma globulin can be administered up to 14 days after exposure.

If she were to become infected then complications would be extremely rare.

Immunisation with the live attenuated virus will give long term immunity if given

immediately Correct

She should anticipate the rash occurring in the next 5 days.

If the person is within 72 hours of exposure measles vaccine is the treatment of choice as it will confer life long immunity. In persons in whom the vaccine is contraindicated immune globulin can be given. Immune globulin is effective within 6 days of exposure. One third of those afflicted with measles can expect a complication. These include pneumonia, otitis media, diarrhoea. A serious complication is the development of sub acute sclerosing, pan-encephalitis. The initial symptoms of measles are corysal symptoms. Several days after the appearance of corysal symptoms a rash appears.

23-Which one of the following is a characteristic feature of hereditary spherocytosis?

(Please select 1 option)

It is transmitted as an autosomal recessive trait

It does not present during the neonatal period

In a 5-year-old child the spleen is likely to be enlarged Correct

The Coombes test is usually positive

The majority of those affected will die before reaching adult life

The disease is usually transmitted in an autosomal dominant fashion. Severe forms can present in the neonatal period . Splenomegaly is common. Haemolysis occurs and the blood film can look similar to autoimmune haemolytic anaemia. The Coombes test is negative in hereditary spherocytosis which helps distinguish the two conditions. Splenectomy after the age of 5 stops further haemolysis and the patient can lead a normal life.

24-A 1-year-old male child is suspected to have acute lymphoblastic leukaemia. Which one of the following correctly applies:

(Please select 1 option)

there is likely to be a family history of ALL

he is likely to have an abnormality on chromosome 21

his age suggests he is in the ‘good prognosis’ group

the condition does not affect the meninges

male sex is associated with adverse prognosis Correct

ALL is the most common representing 23% of childhood cancers, with an annual rate of 30-40 per million. There is no genetic predisposition. Age of less than 2 and greater than 9 at presentation suggests adverse prognosis.The chromosomal abnormality in ALL involves a translocation in the 11q23 region.It does affect the meninges which is why prophylactic cranio-spinal irradiation and intrathecal methotrexate is given. It carries a good prognosis with a cure rate of 80%. However male sex carries a worse prognosis.

25-Which one of the following is a cause of delayed bone age:

(Please select 1 option)

Central precocious puberty

Congenital hypothyroidism in a 6-year-old boy treated with thyroxine since 7

days old

Newly diagnosed adrenal hyperplasia in a 5-year-old boy

Newly diagnosed growth hormone deficiency in a 6-year-old girl Correct

Obesity

Bone age would be normal in an adequately treated euthyroid child. Bone age would be delayed in growth hormone deficiency. In exogenous obesity due to overnutrition and underexercise bone age would be advanced. If there is a concomitant endocrinopathy such as hypothyroidism then bone age would be delayed. Bone age is delayed by 2 years in childhood in Turner's syndrome. CAH and central precocious puberty cause advanced bone age.

26-A 17-year-old girl underwent emergency splenectomy after a domestic accident. Which one of the following organisms is most likely to cause life-threatening infection in the future?

(Please select 1 option)

Actinomycosis

Haemophilus influenzae Incorrect answer selected

Pseudomonas aeruginosa

Staphylococcus aureus

Streptococcus pneumoniae This is the correct answer

Following splenectomy a person is at risk of Streptococcus pneumoniae , Haemophilus influenzae, Nesseria meningitidis, Escherichia coli and Pseudomonas aeruginosa.

By far the most common is Streptococcus pneumoniae- which can cause life threatening infection.

27-A 18 year-old man is referred with a 6 month history of daily headache which is mostly frontal in location and occasionally associated with nausea. He has been taking Paracetamol 3g/day, Aspirin 300 mg tds and Codeine 40mg tds, which has only a temporary effect. He has a 2 year history of depression, treated with Paroxetine. No abnormalities were found on examination. What is the most likely diagnosis?

(Please select 1 option)

Analgesic misuse headache Correct

Cerebral tumor

Cluster headache

Headache due to depression

Migraine

The two commonest causes of chronic daily headache are tension type headache and analgesic misuse headache. The latter is the most likely diagnosis for this patient's symptoms. It usually occurs as a result of chronic use of analgesics such as codeine phosphate and paracetamol. Typically the headache is relieved with the analgesics just to return in the next hours. The treatment of choice is the slow reduction and withdrawal of analgesics.

28-Which of the following organelles contains enzymes responsible for the digestion of constituents of cells and tissues?

(Please select 1 option)

endoplasmic reticulum

Gogli apparatus

lysosomes Correct

microtubules

mitochondria

The lysosomes contain the enzymes and molecules such as oxidases, free radical etc responsible for the breakdown of intracellular components. Micortubules are involved in mitotic processes and intracellular transportation. The mitochondria produce energy for cellular functions.

29-A 17-year-old male from India presents with fever of 4 months duration and splenomegaly. What is the most likely diagnosis?

(Please select 1 option)

Coccidiomycosis

Giardiasis

Tropical sprue

Typhoid

Visceral leishmaniasis Correct

Visceral leishmaniasis (Kala-azar) is an endemic disease in several regions of India and sub-Saharan Africa. It is caused by the parasite Leishmania donovani donovani and spread by Phlebotomus sand-flies. Leishmaniasis is common in immune-suppressed patients, particularly those infected with HIV. There has recently been a substantial increase of cases in the Mediterranean region. It has been estimated that 15% of HIV positive drug users in Spain are infected with Leishmania donovani infantum. Giardiasis and tropical sprue present with gastrointestinal symptoms and malabsorption. Typhoid is an acute illness. Coccidiomycosis is largely confined to the Americas. Most patients present with pulmonary symptoms although disseminated disease can occur particularly in the immune-suppressed.

30-Which of the following concerning IgG is correct?

(Please select 1 option)

It has a molecular weight of 50,000 kd.

It is monovalent.

It comprises the majority of circulating antibody in serum. Correct

It differs from other isotypes in not being able to cross the placental barrier.

It is the major antibody produced during the primary response.

a) Each light chain has a MW of 25,000 and each H chain a MW of 50,000. Therefore, since the whole molecule consists of 2 L and 2 H chains, the MW is 150,000 kd. b) It exists as a monomer with 2 Fab portions, each of which can interact with an antigenic determinant. Therefore it is divalent. c) Normal range 8-19 g/l. Next is IgA, 1-5 g/l, followed by IgM 0.5- 2 g/l. d) It is in fact the only antibody capable of crossing the placental barrier, which it does through gaining attachment via its Fc portion. e) It is the major antibody produced in the secondary immune response. IgM is the major antibody produced during the primary response. (c) Dr Alan Cann

31-A 17-year-old girl is short in stature for her age. She has not shown any changes of puberty. She has a webbed neck. Her vital signs include Temperature 36.6C Respiratory rate 18/min Pulse 75 bpm and BP 165/85 mmHg. On physical examination, she has a continuous murmur heard over both the front of the chest as well as her back. Her lower extremities are cool with poor capillary filling. A chest radiograph reveals a prominent left heart border, no oedema or effusions, and rib notching. Which of the following pathologic lesions best explains these findings?

(Please select 1 option)

Constriction of the aorta past the ductus arteriosus Correct

Lack of development of the spiral septum and partial absence of conus

musculature

Shortening and thickening of chordae tendineae of the mitral valve

Single large atrioventricular valve

Supravalvular narrowing in the aortic root

She has coarctation of the aorta, and the constriction is postductal, allowing prolonged survival. Her physical characteristics also suggest Turner syndrome (monosomy X).

32-Which of the following is a polygenic disorder?

(Please select 1 option)

Ankylosing spondylitis Correct

Erythropoietic porphyria

Fragile X syndrome

Huntington's disease

Pendred’s syndrome

Unlike the other conditions, no one specific genetic defect has been identified to account for ankylosing spondylitis. Hungtindon's chorea is an autosomal dominant condition. Fragile X syndrome is due to a trinucleatide repeat at the FMR 1 gene on the X chromosome. Erythropoietic porphyria is an autosomal recessive condition as is Pendred's syndrome.

33-A 17-year-old male who appears tall and thin for his age, presents with a high arch palate, chest wall deformities and livedo reticularis. Which of the following is also associated with this syndrome?

(Please select 1 option)

Autosomal Dominance

Methionine accumulation This is the correct answer

Osteopetrosis

Positive Guthrie test

Upward dislocation of the lens Incorrect answer selected

This syndrome is most likely to be homocystinuria. Marfan's syndrome is associated with upward dislocation of the lens, but not with livedo reticularis, which is seen in Homocystinuria due to the venous thrombosis in the small vessels of the skin. Homocystinuria is associated with downward dislocation of the lens, and is an Autosomal Recessive disorder. Osteoporosis, and not osteopetrosis is seen in homocystinuria. A positive Guthrie testis associated with Phenylketonuria. Reduced activity of cystathionine -synthase results in accumulation of homocysteine and methionine, interfering with collagen cross-linking, which is the cardinal feature of Homocystinuria.

34-Which of the following is associated with abnormalities of phosphorylation of gene product by cyclin-dependent kinases (CDK); binding of gene product to transcription factors such as E2F?

(Please select 1 option)

Retinoblastoma This is the correct answer

Achondroplasia Incorrect answer selected

Neurofibromatosis type 1

Huntington disease

Marfan syndrome

The retinoblastoma gene product is phosphorylated by a CDK and then binds to transcription factors.

Marfan patients have mutations of the chromosome 15 gene encoding fibrillin, a connective tissue protein.

35-A 14-year-old boy falls awkwardly while swinging from a rope in an adventure playground. He lands head first, causing violent flexion of his neck. An ambulance is called. He has previously been fit and well. Full term normal delivery, no neonatal problems. Immunisations up to date. No family or social history of note.

On examination the temperature is 36.5°C. He has been intubated and is being bag ventilated in 100% Oxygen. Heart rate is 60/min and pulse is thready, though the peripheries are warm and pink. Blood pressure is 75 mmHg systolic by dynamap. He is paralysed from the neck down, and has a GCS of 8.

What is the most mechanism of shock?

(Please select 1 option)

Anaemic

Cardiogenic

Distributive Correct

Hypovolaemic

Septic

The history suggests spinal cord transection causing neurogenic shock. Severe head injury or cord transection can prevent autonomic control of blood vessels, leading to fluid loss into the tissues (distributive shock). Unusually for shock the pulse is slow and the peripheries warm. Fluid replacement and treatment of the underlying cause (if possible) is indicated.

36-A 7-year-old boy is stung by a wasp. He develops marked redness and swelling at the site of the sting, then inspiratory stridor, then he collapses.

He was a full term normal delivery with no neonatal complications. His immunisations are up to date. There is no FH/SH of note.

On examination he is unconscious but self-ventilating at 16/min. Oxygen saturations are 94% in 100% facemask oxygen. He has mild stridor but minimal recession, and looks generally swollen over the face and trunk.

What is the most important element of management?

(Please select 1 option)

Adrenaline IM This is the correct answer

Chlorpheniramine IV

Hydrocortisone IV

Intubation Incorrect answer selected

Salbutamol nebulised

The history is of rapidly progressive throat narrowing, followed by collapse, precipitated by a wasp sting.

The diagnosis is anaphylaxis, due to an extreme immunoglobulin (Ig)E mediated reaction, causing intravascular fluid depletion and circulatory collapse.

Intramuscular (IM) adrenaline, IV hydrocortisone, nebulised salbutamol and IV chlorpheniramine may all be needed.

Specific desensitisation is possible, through an extended course of injections, but avoidance is best. He should carry a Medicalert bracelet and the school and parents instructed in the use of adrenaline autoinjectors.

37-A 2-year-old boy presents with neck glands and general unwellness for the past month. Mother has also noted that 'his eyes look funny'. Full term normal delivery, no neonatal problems. Immunisations up to date. No family or social history of note.

On examination the temperature is 36.7°C, with RR 25/min and HR 100/min. He looks unwell and has marked rubbery cervical lyphadenopathy. The right eye has a small pupil, which fails to dilate in the dark.

What is the most likely diagnosis?

(Please select 1 option)

Cerebral abscess

Cerebral TB

Cerebral toxoplasmosis

Lymphoma

Neuroblastoma Correct

The history of massive glandular enlargement plus Horner's syndrome suggest a neuroblastoma. About 30% of neuroblastomas arise in the thoracic or cervical ganglia. Other rare presentations include "dancing eyes dancing feet" (opsoclonus-myoclonus) and "racoon eyes" (proptosis and periorbital ecchymosis).

38-If a female carrier of a completely expressed X-linked condition marries an asymptomatic male, which one of the following statements is statistically true of their offspring:

(Please select 1 option)

Half of all children will be symptomatic

Half of the females will be carriers Correct

Half of the males will be asymptomatic carriers

Half of the females will be asymptomatic

None of the males will be symptomatic

The 50% of males who carry a copy of the abnormal gene, passed down from their mother, will express the disease. The other 50% will be asymptomatic. All of the females will be asymptomatic, with 50% carrying the abnormal gene.

39-An 18 month old boy investigated for failure to thrive and delayed development is found to have primary hypothyroidism. Which of the following statements applies to his condition.

(Please select 1 option)

He is unlikely to achieve normal intelligence despite immediate commencement

of appropriate treatment Correct

If his bone age was 3 months the onset of his hypothyroid state is most likely to

have occurred at 3 months of age

Growth hormone deficiency is likely also to be associated

Hashimoto’s disease is the most likely cause.

He is more prone to develop parathyroid insufficiency

The diagnosis of congenital hypothyroidism has been delayed and hence thyroxine therapy will not restore mental function fully. The hypothyroidism is likely to have been present at birth. Growth hormone deficiency may be seen in association with secondary

hypothyroidism if pituitary insufficiency exists, but not in primary hypothyroidism. The most likely aetiology is absent or ectopic thyroid. Hypoparathyroidism is unrelated.

40-Which of the following is commonly associated with congenital hypothyroidism in the neonatal period:

(Please select 1 option)

hypothermia This is the correct answer

Diarrhoea

Prolonged conjugated hyperbilirubinaemia Incorrect answer selected

A small anterior fontanelle

Inguinal hernia

Hypothermia results from reduced metabolic rate. Constipation rather than diarrhoea is a common clinical feature. Prolonged conjugated hyperbilirubinaemia is a relatively uncommon sequelae. The anterior fontanelle would be tense. Umbilical rather than inguinal herniae are associated.

41-A 15 month old boy presents with high fever of 6 days duration, rash, tender neck glands, red eyes and cracked lips. Full term normal delivery with no neonatal complications. Immunisations up to date. There was no family or social history of note.

On examination temperature is 38.9°C and he is miserable and clingy. Respiratory rate is 30/min and heart rate 120/min, well perfused. The rash is maculopapular erythematous and blanching. The hands and feet are swollen. He has tender cervical gland enlargement, non-purulent conjunctivitis and prominent tongue papillae.

What is the most likely diagnosis?

(Please select 1 option)

Acute Rheumatic fever

Henoch Schonlein disease

Kawasaki disease Correct

Meningococcal sepsis

Stevens-Johnson Syndrome

The history is classical of Kawasaki disease (muco-cutaneous lymphnode syndrome). The features described fulfil the international criteria, the diagnosis

being purely clinical. Often there is elevation of CRP, ESR and platelet count. IVIG 2g/kg should be given within the first 10d of illness to reduce the risk of coronary artery aneurysm

42-A 2 month old baby is admitted with seizures and failure to thrive. Follwoing a seizure he is found to have a blood glucose concentration of 1.2 mmol/L (3.0-6.0). Other biochemistry reveals a lactic acidosis and hyperlipidaemia. Examination reveals hepatomegaly with palpable kidneys. What is the most likely diagnosis?

(Please select 1 option)

Gaucher's disease

McArdle's disease

Niemann-Pick disease

Pompe Disease

Von Gierke disease Correct

This baby has hypoglycaemia accounting for fits, associated with lactic acidosis and hepatomegaly which would point to a diagnosis of von Gierke's disease. This is a glycogen storage disease due to deficiency of glucose-6-phosphatase. Glycogen is stored in both liver and kidney causing enlargement. Both Gaucher and Niemann-Pick disease are lipid storage disorders. McArdle's disease is a glycogen storage disease affecting muscle rather than liver as is Pompe's disease. Neither would be expected to produce profound hypoglycaemia.

43-A 5-year-old girl presents with ataxia. She keeps falling to the left during a ballet lesson. The symptoms persist, and parents take her to casualty. 41/40 gestation 2.9kg, with no neonatal problems.

On examination she is alert with temperature of 36.9°C (tympanic), RR of 20/min and HR of 95/min. She has obvious nystagmus, dysdiadochokinesis and falls to the left when asked to walk.

What is the most likely diagnosis?

(Please select 1 option)

Brain tumour Correct

Infections

Ingestions

The history is of subacute cerebellar abnormality in the absence of fever. The most likely diagnosis is a posterior fossa tumour. This can be confirmed by CT or

MRI scan. The latter is preferable because the bony posterior fossa interferes with CT images.

44-An 18 month old boy because of maternal concerns about delayed speech. He was born at 39+4/40 weighing 2.6kg and there were no neonatal problems. He sat at 12/12, and now pulls to stand. He is able to make a tower of 2 inch-high bricks. He is saying 2-3 single words which his mother can understand and seems to hear well. He drinks from a bottle. He is fully immunised, on no medications, and there is no FH/SH of note.

On examination he looks well. He is on the 25th centile for height and weight and OFC. There are no specific findings of note.

What is the most likely diagnosis?

(Please select 1 option)

Speech delay, isolated

Pervasive developmental disorder

Global developmental delay Correct

Impaired hearing

Autism

The history suggests moderate global developmental delay. He is functioning at about the 12 month level in gross motor, fine motor and vision, hearing and speech, and social development. The history gives no indication of an underlying cause for the delay. A detailed developmental assessment should be performed plus investigations for an underlying cause. At minimum these should include TFTs and karyotype to rule out Fragile X Syndrome. Other investigations may be indicated if a specific disorder is suspected.

45-A 3-year-old child presents with delayed speech. Although he seems to understand full sentences and commands he says only occasional single words. He was born at 41/40 weighing 3.4kg and there were no neonatal problems. He is fully immunised, on no medications, and comes from a middle class articulate family.

On examination he is on the 25th centile for height, weight and OFC. There are no specific abnormalities to find. ENT examination is unremarkable.

What is the most likely diagnosis?

(Please select 1 option)

Speech delay, isolated Correct

Pervasive developmental disorder

Global developmental delay

Impaired hearing

Autism

The history is of isolated speech delay in a child who apparently hears normally. Hearing should be formally checked, as it is the commonest reason for speech delay.In this case the problem involves mainly expression rather than reception of speech. Such speech problems may interfere significantly with schooling.

46-A 12-year-old boy complains of persistent clear nasal discharge during the spring and summer. He constantly rubs his nose and his eyes. Sometimes he has an associated cough. The symptoms usually get better in the autumn. He was diagnosed with asthma at 2 years, but this has improved with age. He rarely requires beta agonist inhaler.

On examination he has a clear nasal discharge, nasal speech, and pink non-purulent conjunctivae.

What is the most likely diagnosis?

(Please select 1 option)

Gastroesophageal reflux

Allergic rhinitis Correct

Sinusitis

Asthma

Croup

This atopic boy has classical symptoms of seasonal rhinitis. Although skin prick testing may be helpful in resistant cases, it is usual to treat sufferers symptomatically with oral antihistamines or topical steroids to eyes and nose.

47-year-old girl presents with high fever and severe left-sided throat pain. She has had difficulty in swallowing over the last 2 days, and has been finding it increasingly uncomfortable to open her mouth. Her voice is muffled and she dribbles saliva. She was born at 41/40 gestation weighing 4.0kg and there were no neonatal problems.

On examination she looks ill. Her temperature is 40.2°C (tympanic), RR 15/min and HR 100/min. ENT examination shows left tonsillar enlargement and exudate, with a uvula deviated to the right.

What is the most likely diagnosis?

(Please select 1 option)

Retropharyngeal abscess

Foreign body aspiration

Anaphylaxis

Croup

Peritonsillar abscess Correct

The history suggests a peritonsillar abscess (quinsy) on the left side, a complication of Group A Strep. sore throat. A fever greater than 39.4°C is associated with severe disease, and treatment is by surgical drainage.

48-A 9-year-old boy presents with a history of headache and persistent green nasal discharge. At night he has a cough and snores loudly. The headache is exacerbated by leaning forwards.

On examination he is apyrexial, but has a persistent nasal obstruction and nasal speech. He is tender over the maxillae and forehead.

What is the most likely diagnosis?

(Please select 1 option)

Gastroesophageal reflux

Allergic rhinitis

Sinusitis Correct

Asthma

Croup

The picture is one of upper airways obstruction associated with nasal discharge, most likely due to sinusitis. In this case the maxillary and frontal sinuses are most likely to be involved

49-Which of the following statement is true of infections with Mycobacterium tuberculosis:

(Please select 1 option)

Non-sputum producing patients are non-infectious This is the correct answer

A positive tuberculin test indicates active disease

Lymph node positive disease requires longer treatment than pulmonary disease Incorrect answer selected

In pregnant women treatment should not be given until after delivery

Pyrazinamide has high activity against active extracellular organisms

Only untreated smear positive pulmonary TB is likely to be infectious. Active disease may be indicated by grade III/IV response to tuberculin. 80% of individuals with history of BCG vaccination have grade I/II response. All forms of pulmonary TB may be treated equally except tuberculous pleural effusion which may require drainage (with large effusions causing breathlessness) and adjunct corticosteroids to delay reaccumulation. Length of treatment for other forms are bone TB 9 months, meningitis 1 year, drug resistance 2 years. Streptomycin has high activity against extracellular organisms whilst pyrazinamide have high activity against intracellular organisms.

50-A 41+5/40 gestation infant is born by SVD weighing 2.31kg with apgars of 7 at 1 minute and 9 at five minutes. Pregnancy was complicated by maternal smoking and poor growth on antenatal ultrasound in the final trimester. There is no family history of note.

On examination his weight is between the 0.4% and 3% and his OFC on the 25%. He has peeling skin. His temperature on arrival in the neonatal unit is 35.6°C and BM stix is 2.0 mmol/l. There are no specific abnormalities to find.

What is the most likely diagnosis?

(Please select 1 option)

Asymptomatic hypoglycaemia Correct

CMV infection

Edwards syndrome

Hypoparathyroidism

Sepsis

This child is small for gestational age, with preservation of head size. This suggests late pregnancy malnutrition. As in this case, such children are at risk of hypoglycaemia and hypothermia, as they have limited glycogen and brown fat reserves. Hypothermia increases surfactant consumption, with a risk of developing surfactant-deficient lung disease. Peeling skin indicates post-maturity.


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