Pastest - PAEDS Flashcards

1
Q

A 2 year old boy with multiple fractures is under investigation for possible non-accidental injury. While being examined, he is noted to have blue sclerae. What is the most likely diagnosis?

A

Osteogenesis imperfecta (brittle bone disease)
This is a group of disorders of collagen metabolism leading to increased bone fragility and thinning of sclerae

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2
Q

A 15 year old girl presents to her GP with 4 weeks of bilateral knee pain. She explains that she competes for her school running team, however, denies any falls or trauma. On examination, her tibial tuberosities are tender bilaterally. Her anterior and posterior cruciate ligament stress tests are normal, as are the results of the Apley’s and McMurray tests. What is the diagnosis and what is the most appropriate course of action?

A

This girl presents with classical signs of Osgood-Schlatter disease, which is an apophysitis caused by traction, which results in numerous microscopic avulsion fractures at the tibial tuberosity. This may result from excessive flexion-extension movements of the knee at a young age before ossification is complete. Archetypally, it affects teenagers who are very active in sport.
action: do no further investigations, advise analgesia, reduce physical exertion and consider physiotherapy

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3
Q

A 6-week old baby presents with profuse vomiting and constipation. The mother states he has vomited on multiple occasions but generally, he has been happy feeding. The baby looks visibly dehydrated. On examination, there is a small mass located in the abdominal region. An arterial blood gas was performed.

Which blood gas picture would you expect?
1. low bicarbonate, hyperchloraemia, hypokalaemia
2. low bicarbonate, hypochloraemia, hypokalaemia
3. elevated bicarbonate, hypochloraemia, hyperkalaemia
4. elevated bicarbonate, hypochloraemia, hypokalaemia
5. elevated bicarbonate, hyperchloraemia, hyperkalaemia

A
  1. elevated bicarbonate, hyperchlroaemia, hyperkalaemia
    this is pyloric stenosis
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4
Q

which murmur is associated with Turner’s syndrome?

A

ejection systolic murmur due to bicuspid aortic valve

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5
Q

A 6-month-old girl is brought to the paediatric emergency department due to a 3-day history of vomiting and fever. She is usually fit and well, other than a successfully treated urinary tract infection 2 months previously.

General examination is unremarkable, though the patient’s urine dipstick is positive for nitrites, leukocytes, and blood. Abdominal ultrasound excludes a posterior urethral valve, though the sonography report describes retrograde flow of urine into the ureters from the bladder.

Given the likely diagnosis, what is the most appropriate first-line investigation?

A

micturating cystourethrogram (MCUG)
this is the investigation of choice for reflux nephropathy (and vesicoureteric reflux)

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6
Q

A newborn baby is noted to have low-set ears, rocker bottom feet and overlapping of her fingers. What is the most likely diagnosis?

A

Edward’s syndrome

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7
Q

what are the components of the Apgar score?

A

pulse, respiratory effort, colour, muscle tone, reflex irritability

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8
Q

which antibiotics are given for whooping cough?

A

macrolide antibiotics - azithromycin or clarithromycin if the onset of cough is within the previous 21 days

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9
Q

Which one of the following is the most common cause of nephrotic syndrome in children?
minimal change disease
IgA nephropathy
focal segmental glomerulosclerosis
chronic pyelonephritis
infantile microcystic disease

A

minimal change disease
- minimal change glomerulonephritis nearly always presents as nephrotic syndrome, accounting for 80% of cases in children and 25% in adults
majority of cases are idiopathic and respond well to steroids

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10
Q

What is the classical electrolyte abnormality of infantile pyloric stenosis?

A

hypokalaemic hypochloraemic alkalosis

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11
Q

A 14 y.o. boy is brought to the GP because of temporary cramps and weakness in his muscles after short bursts of exercise such as sprinting. When this happens, he also notices that his urine changes colour. Strangely, if he jogs for a while, he develops a ‘second wind’ of energy after the initial struggle. what is the most likely diagnosis?

A

McArdle disease

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12
Q

A 3 y.o. boy is referred to the surgical clinic with a history from the parents of irritation and ballooning of the foreskin during micturition over a 4 month period. What is the probable diagnosis and what does the condition entail?

A

phimosis is the most likely cause
this is a condition in which a ridged band of the foreskin of the penis cannot stretch to allow it to be pulled back past the glans. A balloon-like swelling under the foreskin may occur with urination. Severity ranges from a score of 1 (full retraction of the foreskin, tight behind the glans) to 5 (absolutely no retraction of the foreskin)

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13
Q

what is the treatment of phimosis?

A

non-retractile phimosis usually becomes retractable during the course of puberty
non-surgical treatment options include topical steroid creams and gentle stretching of the foreskin using manual dilaters
surgical treatments include dorsal slit (superincision), ventral slit (subincision), preputioplasty and circumcision

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14
Q

A 2 year old girl was taken to see her GP as her mother had noticed that she had developed a slight squint in her left eye. On exam, the red reflex is absent. What is the child’s condition?

A

retinoblastoma

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15
Q

What type of drug is ipratropium?

A

antimuscarinic bronchodilator

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16
Q

A 1 y.o. child presents to the GP with an abnormally sized head and predominant shortening of the proximal upper and lower limbs. What is the most likely diagnosis?

A

achondroplasia

17
Q

A 6 y.o. boy presents with webbing of the neck, cubitus valgus and congenital heart disease. What is the most likely diagnosis?

A

Noonan syndrome

18
Q

A 7 y.o. boy previously treated with cranial irradiation for a brain tumour has recurrent episodes of hypoglycaemia. What is the most likely diagnosis?

A

Hypopituitarism

19
Q

A 2 y.o. boy has poor motor and speech development. he also has a large tongue and an umbilical hernia. What is the most likely diagnosis?

A

Congenital hypothyroidism
signs include: prolonged jaundice, failure to thrive, poor feeding, constipation, pallor, cold dry skin, a large tongue, a hoarse cry, umbilical herniation, delayed development and an unusual (coarse) facial appearance