Paeds 8B Flashcards

1
Q

how does subluxation of the patella present?

A

Sudden lateral dislocation of the patella
Very painful
Feeling of instability/giving way
Requires reduction and immobilisation

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2
Q

How many joints must be affected to be classified as polyarticular juvenile idiopathic arthritis?

A

More than 4

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3
Q

Describe the difference in the iron content of breast milk and cows milk.

A

Breast milk - low iron content, high absorption

Cows milk - high iron content, low absorption

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4
Q

List some clinical features of Edwards syndrome.

A
Low-set ears 
Small chin 
Microcephaly
Overlapping fingers 
Rocker-bottom feet 
Cardiac defects (VSDs) 
Renal anomalies 
Learning disability 
90% death within 1 year
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5
Q

List some clinical features of Patau syndrome.

A
Structural brain defects 
Small eyes
Polydactyly
Cardiac/renal malformations 
Death within 1 year
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6
Q

List some clinical features of Klinefelter’s syndrome.

A
Most common cause of male hypogonadism
Small firm testes 
Tall 
Behavioural problems 
Delayed speech 
Gynaecomastia
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7
Q

List some clinical features of fragile X syndrome.

A
Moderate learning difficulties (most common genetic cause of learning difficulties)
Macrocephaly 
Large testes 
Large ears 
Long face 
Prominent mandible and forehead
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8
Q

How is fragile X syndrome inherited?

A

X-linked dominant

Female carriers may have mild learning difficulties

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9
Q

What is Still’s disease?

A

Systemic form of JIA thought to be of autoimmune origin

Intermittent pyrexia
Salmon-pink rash
Aches and pains of joints and muscles

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10
Q

List some clinical features that are common to all congenital TORCH infection.

A
Low birth weight 
Prematurity 
Jaundice 
Microcephaly 
Seizures 
Anaemia 
Failure to thrive 
Encephalitis
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11
Q

Which medication is used to chelate lead in lead poisoning?

A

EDTA (ethylene diamine tetraacetic acid)

NOTE: it present with encephalopathic features (e.g. behavioural problems, pica) and causes a hypochromic microcytic anaemia with basophilic stippling

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12
Q

Which other condition can present very similarly to acute epiglottitis?

A
Retropharyngeal abscess (causes fever, drooling, dysphagia and stridor)
Typically has a longer history than acute epiglottitis (over a few days)
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13
Q

Which murmur is typically heard in tetralogy of Fallot?

A

Ejection systolic murmur heard best in the 3rd intercostal space with a single heart sound

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14
Q

Which tumour markers can be used for neuroblastoma?

A

Urinary catecholamines

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15
Q

What is a craniopharyngioma?

A

Rare type of brain tumour derived from pituitary gland embryonic tissue

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16
Q

Which tissue does neuroblastoma arise from?

A

Neural crest tissue in the adrenal medulla and sympathetic nervous system

NOTE: MIBG scans are used to identify neurblastoma tissue

17
Q

Which tissue does nephroblastoma arise from?

A

Embryonal renal tissue

18
Q

What is the most common type of malignant bone tumour in children?

A

Osteosarcoma

NOTE: Ewing is common in younger children

19
Q

Describe the inheritance pattern of retinoblastoma.

A

Autosomal dominant

Located on chromosome 13

20
Q

What is a common benign cause of proteinuria in children?

A

Orthostatic (postural) proteinuria

Proteinuria is only found when the child is upright during the day

21
Q

List some features of Fanconi syndrome.

A
Polydipsia and polyuria
Salt depletion and dehydration 
Hyperchloraemic metabolic acidosis 
Rickets 
Faltering growth
22
Q

List some causes of heart failure in neonates.

A

Hypoplastic left heart syndrome
Critical aortic valve stenosis
Severe coarctation of the aorta
Interruption of the aortic arch

23
Q

Which congenital heart defect is most commonly seen in DiGeorge syndrome?

A

Interrupted aortic arch

Others include persistent truncus arteriosus, TOF and VSD

24
Q

What are some features suggestive of atypical UTI?

A
Seriously ill
Poor urine flow 
Abdominal mass 
Raised creatinine 
Septicaemia
Failure to respond to antibiotic treatment 
Infection with non-E. coli organisms