MISCELLANEOUS FACTS FROM BMJ ON EXAMINATION Flashcards

1
Q

An uncomplicated ventricular septal defect (VSD) in a 5-year-old boy may be associated with which one of the following?

A collapsing pulse

A pansystolic murmur of grade 4/6 in intensity

Clubbing of the fingers

Splenomegaly

Wide and fixed splitting of the second heart sound

A

A pansystolic murmur of grade 4/6 in intensity

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2
Q

Which of the following statements applies to fragile X syndrome?

Affected children are taller than average

Cytogenetic finding of fragile X is induced in a vitamin B12 deficiency culture medium

Learning difficulties are found in all males

Learning difficulties are not found in females

The condition can only be diagnosed after birth

A

Affected children are taller than average

The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile X site (X q27.3) induced in cell culture under conditions of folate deprivation.

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3
Q

Which of the following is the most common site of osteoclastoma?

Lower end of femur

Lower humerus

Upper end tibia

Upper radius

A

Lower end of femur

Approximately 50% of giant cell tumours (osteoclastomas) are located about the knee at the distal femur then proximal tibia, with the proximal humerus and distal radius representing the third and fourth most common sites, respectively.
Most commonly, giant cell tumours are solitary lesions; less than 1% are multicentric.

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4
Q

A 10-year-old child is suspected of having Peutz-Jeghers syndrome. Which of the following statements would support this diagnosis?

Histology reveals adenomatous polyps

Neither parent is affected

The child has an iron deficiency anaemia

The child has aphthous ulceration of the mouth

There are axillary pigmented lesions

A

The child has an iron deficiency anaemia

The small intestinal polyps are hamartomas and not adenomas. Recent data suggest that Peutz-Jeghers syndrome is a premalignant condition but the risk is low.

Peutz-Jeghers syndrome is inherited as an autosomal dominant condition. As a result, children with one affected (heterozygotic) parent have a 50% chance of developing the condition.

It can present as anaemia in childhood. The anaemia is a hypochromic microcytic anaemia resulting from iron deficiency.

The circumoral pigmented lesions are a characteristic feature of this condition.

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5
Q

A 3-year-old child is investigated for recurrent chest infections with green sputum production. Her chest x ray reveals ring shadows and bronchial wall thickening of both bases. What is the most likely diagnosis?

Aspiration pneumonia

Bronchiectasis

Foreign body inspissation

Hypersensitivity pneumonitis

Tuberculosis

A

Bronchiectasis

This patient has a history of recurrent chest infections with x ray appearances suggesting bronchiectasis.
The most likely explanation for these features would be cystic fibrosis.

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6
Q

A 12-year-old girl presents with left ear pain and fever, worsening over the past three days. Today her mother has noted a whitish creamy discharge from the ear canal.
She was born at 38/40 gestation weighing 3.8 kg and there were no neonatal problems. She is fully immunised. She trains regularly in a swimming team.
On examination she has a temperature of 38.2°C and has a red left tragus. This is exquisitely tender, and examination of the drum is impossible because of the pain and creamy thin discharge. She has shotty tender posterior cervical glands.
What is the most likely diagnosis?

Group A streptococcal pharyngitis

Mastoiditis

Otitis externa

Otitis media, acute

Otitis media, recurrent

A

Otitis externa

The history suggests an acute otitis externa. The tight adherence of skin to the underlying perichondrium and periosteum make the pain worse than the degree of inflammation would suggest.

An ear swab culture should be sent and neomycin and colistin/polymyxin ear drops commenced. This covers the common Gram positive and Gram negative bacteria usually responsible.

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7
Q

A 4-month-old boy presents with heart murmur, breathlessness and failure to thrive. He has always breathed a little fast, but this has gradually worsened. He has been falling through the centiles.
He was born at 40+2/40 weighing 3.22 kg and there were no neonatal problems. His immunisations are up to date. There is no family or social history of note.
On examination the temperature is 36.9°C, respiratory rate 40/min (minimal recession) and pulse is 120/min. He is below the 3% for weight and on the 50% for OFC. He has an active praecordium, loud P2 and a 3/6 pansystolic murmur maximal at the lower left sternal edge, but heard all over the praecordium. The liver is 3 cm.
What is the most likely diagnosis?

Atrial septal defect, primum

Atrial septal defect, secundum

Mitral regurgitation

Tricuspid atresia

Ventricular septal defect

A

Ventricular septal defect

This history suggests heart failure, worsening over the first few weeks of life, with a pansystolic murmur. This suggests a VSD causing haemodynamically significant left-to-right shunt.

The shunt volume usually increases in the first few weeks as the pulmonary vascular resistance drops. The murmur goes from ejection systolic in the first few days, gradually becoming pansystolic. Diuretics are often needed.

Some VSDs (particularly of the muscular septum) close spontaneously. Others (especially of the membranous septum) require surgical closure.

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8
Q

A 12-year-old boy presents with a florid rash on the hands and feet.
He became ill three days before, when he developed painful mouth ulcers. Yesterday he developed a rash on the hands and feet. He had a full term normal delivery, and previously has been very healthy. He is on no medications, is fully immunised. Mother has had a recent cold sore.
On examination he has a temperature of 38.5°C, RR 15/min and HR 85/min. He has profuse oral ulcers on his tongue and buccal mucous membranes, and vesicles on his lips. He has many circular raised pinky red lesions over the hands and feet with paler centres. He has tender cervical lymphadenopathy.
What is the most likely diagnosis?

Contact dermatitis

Erythema multiforme

Impetigo

Stevens-Johnson syndrome

Viral exanthems

A

Erythema multiforme

The history suggests an attack of oral ulceration, followed by the development of target lesions over the extremities.

The likely diagnosis is primary Herpes simplex type 1 infection, complicated by erythema multiforme. In this case there is a clear time course between the appearance of the oral ulcers (of HSV1) before development of the systemic rash (erythema multiforme). There is also a history of contact with HSV1 because his mother had a cold sore.

If all the lesions had developed at once, or were there not vesicles (suggestive of HSV1), then SJS may have been more likely. In this case the pyrexia is due to HSV1.

Treatment is supportive, though aciclovir may be given to control the herpes.

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9
Q

A 9-month-old boy with poor weight gain is brought to see the GP. His growth has slowed crossing 1 centile but his weight has fallen from 50th to 9th centile in the last three months.
He began weaning at 5 months with a variety of foods. His mother says he eats well and has no other specific symptoms. On examination he appears cachectic with abdominal distension. He is cruising around on furniture and makes appropriate double syllable sounds.
What is the most likely diagnosis?

Cushing’s syndrome

Cystic fibrosis

Gluten-sensitive enteropathy

Hyperthyroidism

Lactose intolerance

A

Gluten-sensitive enteropathy

Coeliac disease typically presents after weaning with GI symptoms and weight loss.

This presentation of weight loss after weaning may be suggestive of coeliac disease when gluten may have started to be introduced into the diet.

Abdominal distension, vomiting, diarrhoea and weight loss are the most typical features of coeliac disease but it can be more insidious. Children may have marked muscle wasting (often seen over the buttocks), be anaemic and have vitamin deficiencies.

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10
Q

A 30-month-old boy is brought to the paediatric clinic. He is an orphaned refugee recently arrived in the United Kingdom and has no medical history.
His foster parents have brought him to clinic as they have noticed that he becomes easily breathless on exertion or after a bath and squats down to get his breath back. During these times, they notice that his lips turn blue.
On examination, you find that he is on the 5th centiles for height and weight, his lips are slightly dusky, he has good air entry bilaterally in his chest and he has a normal heart rate at rest with a loud ejection systolic murmur at the upper left sternal edge with an associated thrill.
Chest x ray reveals decreased vascular markings and a normal sized heart. Electrocardiography (ECG) shows sinus rhythm with right axis deviation and deep S waves in V5 and V6.
What is the most likely diagnosis?

Asthma

Eisenmenger’s syndrome

Isolated pulmonary stenosis

Tetralogy of Fallot

Ventricular septal defect

A

Tetralogy of Fallot

Tetralogy of Fallot (TOF) can produce cyanotic episodes relieved by increasing peripheral vascular resistance via manoeuvres such as squatting.

TOF is the most common cyanotic congenital heart condition. It is characterised by four abnormalities:

  • An inlet (that is, high up) ventricular septal defect (VSD)
  • An overriding aorta
  • Right ventricular outflow tract obstruction and
  • Right ventricular hypertrophy.
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11
Q

A 1-week-old child is brought to the Emergency department by his mother.
The mother tells you he was normal at birth. However over the last week he has become lethargic, is feeding poorly and has lost weight.
Which of the following would support a diagnosis of galactosaemia?

A cataract

Hyperglycaemia

Maltose intolerance

Positive Babinski response

Retinitis

A

A cataract

Galactokinase (GALK; 17p24) mutations - cataracts are present in virtually all patients and may be bilateral, although severity probably varies depending on milk intake. Cataracts in children at birth have been documented although they are more commonly seen after several weeks of life. Some affected patients will also have mental retardation, seizures or complement deficiencies.

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12
Q

Which of the following therapies is not appropriate for the associated condition?

1% hydrocortisone for infantile eczema

Coal tar for psoriasis

Cortisone cream for alopecia areata

Permethrin for scabies

Surgical excision for a cavernous haemangioma 3 cm × 4 cm on the arm

A

Surgical excision for a cavernous haemangioma 3 cm × 4 cm on the arm

Cavernous haemangiomas are usually not present at birth but appear in the first two weeks of life. Lesions are usually on the face, neck or trunk and are well-circumscribed and lobulated.
Treatment options do not include surgical excision. Treatment may be indicated if there is inhibition of normal development - for example impairing normal binocular visual development by obstructing the vision from one eye. It may involve systemic or local steroids, sclerosants, interferon, or laser treatment.

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13
Q

A newborn is diagnosed with an intraventricular haemorrhage.
Which of the following is typically associated with this diagnosis?

Congenital toxoplasmosis

Haemophilia Incorrect answer selected

Hyaline membrane disease

Infants of diabetic mothers

Prematurity

A

Prematurity

Prematurity is associated with intraventricular haemorrhages and is thought to be a consequence of vessel fragility.
Intraventricular haemorrhage is not usually a presenting feature of haemophilia.

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14
Q

Which of the following is a child with recurrent upper urinary tract infections most likely to show?

Neurogenic bladder

Horseshoe kidney

Renal and ureteric calculi

Vesicoureteric reflux

A

Vesicoureteric reflux

Vesicoureteral reflux (VUR) is characterised by the retrograde flow of urine from the bladder to the kidneys.
Untreated vesicoureteral reflux may increase the risk of developing pyelonephritis, hypertension, and progressive renal failure.
In children this condition is usually caused by a congenital abnormality and is considered to be primary VUR.
Secondary VUR is most commonly caused by a recurrent urinary tract infection.
Horseshoe kidney does predispose to UTIs but is much more rare than VUR.

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15
Q

A 14-year-old girl presents to her health care provider informing him that she has missed two periods and that she has a pregnancy test confirming that she is pregnant. She has a boyfriend who is 15 and has been having protected sex with condoms for six months.
She wants a termination but does not want to involve her parents at all. She is counselled regarding abortion and what it entails and is also asked to involve her parents, but she flatly refuses, indicating that she will otherwise get an abortion elsewhere. She understands the risks of having an abortion.
What is the most appropriate action for this patient?
(Please select 1 option)

Contact her parents and inform them of the situation

Inform her that she can only have an abortion with parental consent

Offer her a referral to an abortion service without parental consent

Offer her referral for an abortion only if she informs her parents

Refer to social services

A

Offer her a referral to an abortion service without parental consent

Under the Gillick case, if a child is competent and has an understanding of the full implications of her actions then she can be offered advice and treatment without parental consent. Thus, in these circumstances, the most appropriate option is to offer an abortion with appropriate counselling and support if the patient requests.
If, on grounds of conscientious objection, you decide that you cannot participate in abortion then you must provide an alternative practitioner who will support the patient.
Every effort should be made to persuade her to inform her parents.

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16
Q

A 3-year-old boy presents with a two day history of coryza and cough, particularly at night. His parents say that he has these symptoms even when he does not have a cold and it has been going on for months.
On examination he has Harrison’s sulci and is on the 3rd centile for weight and height. Chest auscultation reveals scattered wheeze.
What is the most likely diagnosis?
(Please select 1 option)

Asthma

Cystic fibrosis

Gastroesophageal reflux

Sinusitis

Virus-induced wheeze

A

Asthma

The examination findings suggest chronic under-treated asthma.
If he does not respond rapidly to asthma therapy a sweat test may be indicated to exclude cystic fibrosis.
It is likely that he will respond to regular inhaled low-dose steroids.
Gastro-oesophageal reflux usually presents in infancy with regurgitation. That causing chest problems is frequently associated with neurological disability, with impaired swallowing.
To be diagnosed with viral induced wheeze the symptoms can only be present during viral infections. This child has a history (and examination findings) suggestive of chronic respiratory impairment so, even though it is not commonly diagnosed under 5 years, asthma is the most likely diagnosis. Once he is 4-5 years old he can undergo formal testing to establish a clear diagnosis but at this time he can still be diagnosed with asthma.

17
Q

A 2-year-old child presents to the Emergency department with fever, left loin pain and offensive smelling urine.
He is pyrexial at 38.5°C. A clean catch urine is positive for blood, protein and nitrites.
Which of the following is the most appropriate initial antibiotic therapy for him?

Amoxicillin

Ciprofloxacin

Co-amoxiclav

Doxycycline

Trimethoprim

A

Co-amoxiclav

In this situation NICE guidelines on Urinary tract infection in children (CG54) recommend using an antibiotic that has a low potential for resistance, such as a cephalosporin or co-amoxiclav.
Quinolones and tetracyclines are not recommended in this age group, amoxicillin and trimethoprim both carry the potential for resistance.

18
Q

In ventricular septal defect (VSD) which of the following is true?

Left to right shunting leads to increased risk of cerebral abscess

The smallest defects tend to produce the softest murmurs

The systolic murmur increases in intensity as pulmonary hypertension develops

There is no risk of bacterial endocarditis

There may be a diastolic murmur at the apex

A

There may be a diastolic murmur at the apex

Diastolic murmur occurs due to aortic incompetence (5%) or increased flow across the mitral valve and relative mitral stenosis.
Right to left shunting causes cerebral abscesses.
Large defects may be associated with soft murmurs.
Although pulmonary hypertension may occur in association with increased flow across the shunt, it may indicate decreased flow across the shunt and increased pulmonary vascular resistance, in which case the murmur would be softer.
The risk of bacterial endocarditis is high in this lesion and even greater with haemodynamically trivial lesions.

19
Q

Which of the following abnormalities would be expected in the hand of a child with achondroplasia?

Polydactly

Simian hand

Syndactly

Trident hand

A

Trident hand

A patient with achondroplasia has disproportionate short stature, with an enlarged head and short arms and legs when compared to the trunk length.
Most individuals with achondroplasia eventually reach an adult height of about 4 feet.
Hands are short with stubby fingers.
There is a separation between the middle and ring fingers (trident hand).

20
Q

A 6-month-old baby presents with a one day history of fever (39°C), and a generalised rash, which began on the legs and is now present on limbs and trunk virtually equally, which is purplish, non-palpable, and non-blanching.
Which of the following is the most likely diagnosis?

Giant urticaria

Haemophilia

Henoch-Schönlein purpura

Measles in mild form

Meningococcal septicaemia

A

Meningococcal septicaemia

HSP would not typically present with a high fever in an acutely unwell child. It is more likely to present in a sub-acute manner, which may be following an upper respiratory tract infection.

21
Q

A 7-year-old child presents with a six month history of worsening polyuria and polydipsia together with diffuse bone pain. Examination reveals exophthalmos, seborrhoeic dermatitis and features suggesting mastoiditis.
What is the most likely diagnosis?

Acute lymphoblastic leukaemia

Graves’ disease

Langerhans cell histiocytosis

Meningioma

Type 1 diabetes mellitus

A

Langerhans cell histiocytosis

22
Q

A 10-year-old boy presents with a history of passing smoky coloured urine for three months intermittently.
On the day of admission he is admitted with severe right loin pain radiating to the groin coming in spasms every few minutes.
He had a full term normal delivery with no neonatal complications. His immunisations are up to date. There is no FH/SH of note.
On examination he is intermittently writhing around the bed and crying. He is apyrexial but sweating. Respiratory rate is 15/min and heart rate 95/min. He has slight tenderness in the right loin.
What is the most likely diagnosis?

Benign familial haematuria

Nephroblastoma

Post-streptococcal glomerulonephritis

Renal stone

Urinary tract infection

A

Renal stone

23
Q

Select which of the following is correct in relation to congenital heart disease?

Atrial septal defects (ASDs), in contrast with ventricular septal defects, never close spontaneously

Failure to thrive is often found associated with Fallot’s tetralogy at under 3 months of age

In Down’s syndrome with an endocardial cushion defect, irreversible pulmonary hypertension occurs earlier than in children with normal chromosomes

The murmur of a ventricular septal defect (VSD) is likely to be loud in the first day of life

Transposition of the great vessels is the most common congenital cyanotic heart disease

A

In Down’s syndrome with an endocardial cushion defect, irreversible pulmonary hypertension occurs earlier than in children with normal chromosomes

ASDs often close spontaneously and the chance of spontaneous closure is related to size, that is, 5-8 mm 80% closure, whereas if the defect is greater than 8 mm then there is little chance of closure.

Fallot’s tetralogy more commonly presents beyond 3 months of age.

The murmur of VSD is intensified after one month of life.

Tetralogy of Fallot is the most common cyanotic congenital heart disease.

24
Q

Closure of an ASD is indicated only when the child shows signs of marked pulmonary hypertension

True or false?

A

False

Closure of an atrial septal defect is recommended before the onset of pulmonary hypertension and the need for heart lung transplant.

25
Q

Correction of tetralogy of Fallot should be carried out as soon as the diagnosis is confirmed

True or false?

A

False

Correction of tetralogy of Fallot is carried out at 1-5 years of age; palliative shunting can be performed prior.

26
Q

Ligation of patent ductus arteriosus should be postponed until school age because spontaneous closure may occur after 1 year of age

True or false?

A

False

Ligation of a patent ductus arteriosus is advised if the defect has not corrected spontaneously after 6 months.

27
Q

Surgical closure of patent ductus arteriosus may be lifesaving in premature newborn babies with heart failure not responding to medical treatment

True or false?

A

True

Immediate surgical closure of a patent ductus arteriosus is recommended in neonates with heart failure not responding to medical management.

28
Q

Surgical correction for a large ventricular septal defect is best between 8 and 10 years

True or false?

A

False

Ventricular septal defect closure depends on the degree of heart failure and location of the ventricular septal defect. Muscular ventricular septal defects often close so a medical approach will be tried for the first few months of life at least and closure monitored on echo.

Large haemodynamically significant perimembranous ventricular septal defects may require closure in the first year.

29
Q

Which of the following are characteristics of Down Syndrome? (Can select more than 1 option)

Failure to develop social relationships

More common in girls

Normal language development

Presence of echolalia

Ritualistic or compulsive phenomena

A

Failure to develop social relationships

Presence of echolalia

Ritualistic or compulsive phenomena

30
Q

Which of the following are associated with childhood obesity? (Can select more than 1 option)

Diabetes mellitus

Perthes disease

Schizophrenia

School truancy

Slipped femoral epiphysis

A

Diabetes mellitus

School truancy

Slipped femoral epiphysis

Perthes disease is NOT related to obesity

31
Q

Is it true or false that neck stiffness in a 2-year-old may occur secondary to the following:

Idiosyncratic response to metoclopramide (Maxolon)

Meningeal leukaemia

Meningitis

Subarachnoid haemorrhage

Tonsillitis

A

True for all of them

32
Q

Which of the following are included in the treatment of salicylate poisoning? (Can select more than 1)

Encouraging a high fluid intake

Forced acid diuresis

Gastric lavage

Sodium bicarbonate

Vitamin K administration

A

Encouraging a high fluid intake

Gastric lavage

Sodium bicarbonate

Vitamin K administration

33
Q

A 12-year-old girl is diagnosed with a duodenal ulcer.
Which of the following drugs is it reasonable to consider for treatment?

Calcium buffers

Dexamethasone

Omeprazole

Ranitidine

Sodium Salicylate

A

Calcium buffers

Omeprazole

Ranitidine

Antacids containing magnesium, calcium and aluminium may be used to neutralise excess acids.
Acid secretion may be inhibited with H2-receptor antagonists such as ranitidine and proton pump inhibitors such as omeprazole. Sucralfate may also be used to coat the ulcers locally.
Products that enhance ulcer development such as steroids and NSAIDS should be avoided.

34
Q

Which of the following investigations is most likely to detect the earliest changes of Perthes’ disease?

CT

MRI

Nuclear scan

Plain x ray

Ultrasound

A

Legg-Calvé-Perthes’ disease is the name given to idiopathic osteonecrosis of the capital femoral epiphysis of the femoral head.

Plain x rays of the hip are extremely useful in establishing the diagnosis. MRI and contrast MRI in the early stages, will give far more detail of necrosis, revascularisation and healing than plain x rays. A nuclear scan will provide less detail and exposes the child to radiation although a technetium 99 bone scan is helpful in delineating the extent of avascular changes before they are evident on plain radiographs.

35
Q

Which of the following is associated with decreased glucose and high polymorphonuclear cell count in the CSF? (Can select more than 1)

Cryptococcal meningitis

Early tuberculous meningitis

Echo virus meningitis

Escherichia coli meningitis

Meningococcal meningitis

A

Early tuberculous meningitis

Escherichia coli meningitis

Meningococcal meningitis

In cryptococcal meningitis the glucose is usually reduced but there is usually a predominance of lymphocytes.
With late tuberculous meningitis, lymphocytes usually predominate except in early disease where there may be 80% polymorphs.
Although not seen in echo virus meningitis they are seen in one quarter of cases of mumps and herpes virus meningitis.
E. coli and meningococcal meningitis are both bacterial meningitis.