MISCELLANEOUS FACTS FROM BMJ ON EXAMINATION Flashcards
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 pansystolic murmur of grade 4/6 in intensity
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
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.
Which of the following is the most common site of osteoclastoma?
Lower end of femur
Lower humerus
Upper end tibia
Upper radius
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.
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
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.
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
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.
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
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.
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
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.
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
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.
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
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.
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
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.
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 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.
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
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.
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
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.
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
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.
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
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.
