Paeds 8

Question 1

What are the five autism spectrum disorders?

Answer 1

Autism
Asperger’s syndrome
Rett syndrome
Childhood disintegrative disorder
Pervasive developmental disorder not otherwise specified (PDD-NOS)

Question 2

Which disease in infants can present very similarly to necrotising enterocolitis?

Answer 2

Hirschsprung’s enterocolitis

Question 3

What does ‘10% glucose’ mean with regards to fluids?

Answer 3

10 g glucose per 100 mL

Question 4

What is the investigation of choice for suspected SUFE?

Answer 4

Frog-lateral hip X-ray

NOTE: they will have limited hip flexion and abduction

Question 5

List some complications of Henoch-Schonlein Purpura.

Answer 5

Acute renal impairment 
Intussusception
Arthritis involving ankles and knees commonly
Testicular pain
Pancreatitis

Question 6

What is an important first step in the management of acute lymphoblastic leukaemia?

Answer 6

Prevent tumour lysis syndrome
Hyperhydration
Start allopurinol

Question 7

Which antibiotic should be used for neutropaenic sepsis?

Answer 7

Tazocin

Question 8

List some clinical features of space-occupying lesions.

Answer 8

Headaches are worse when lying down 
Morning vomiting 
Headaches may cause night-time waking 
Change in mood or personality 
Change in educational performance
Focal neurology (e.g. weakness, visual field defect)

Question 9

Which age group is most likely to experience a febrile convulsion?

Answer 9

< 6 years

Question 10

What are some key features of frontal seizures?

Answer 10

Involves motor and pre-motor cortex

May lead to clonic movements

Question 11

What are some key features of temporal lobe seizures?

Answer 11

Aura Automatisms (e.g. lip smaking) 
Impaired consciousness

Question 12

Which diagnostic tests can be used for mumps and rubella?

Answer 12

Serology from blood or oral fluid sample

Question 13

Which investigations may be used in a child with short stature?

Answer 13

MId-parental height 
Random GH measurement 
Insulin tolerance test 
CT/MRI head scan 
Bone age (using DEXA or wrist X-ray)

Question 14

What are some complications of scarlet fever?

Answer 14

Otitis media 
Acute sinusitis/mastoiditis 
Streptococcal pneumonia
Meningitis 
Endocarditis 
Osteomyelitis 
Rheumatic fever 
Streptococcal glomerulonephritis

Question 15

In an acute asthma attack, which other medications may be used if the patient is unresponsive to nebulised SABA and ipratropium bromide?

Answer 15

Magnesium sulphate
Aminophylline
IV salbutamol

IMPORTANT: ECG and electrolytes should be monitored

Question 16

Who will receive the children’s flu vaccine?

Answer 16

Annually as a nasal spray in september/october for all children aged 2-9 years

Question 17

When is the 4 in 1 preschool booster given and which vaccines does it contain?

Answer 17

Around 3 years and 4 months 
Diphtheria
Tetanus 
Pertussis 
Polio

Question 18

When is the 3 in 1 teenage booster given and which vaccines does it contain?

Answer 18

14 years
Diphtheria
Tetanus
Polio

Question 19

What type of murmur does a VSD cause?

Answer 19

Pansystolic heard loudest at the lower left sternal edge (fifth intercostal space)

Question 20

What type of murmur does a PDA cause?

Answer 20

Continuous machinery murmur inferior to the left clavicle

Question 21

What should you do first if a child presents to paediatric A&E with infectious diarrhoea, whooping cough or symptoms suggestive of MMR?

Answer 21

Put in a side room

Question 22

What is spinal muscular atrophy?

Answer 22

Autosomal recessive disorder of anterior horn cells
Leads to progressive weakness and wasting of skeletal muscles
Due to mutation in SMN1

NOTE: Werdnig-Hoffman disease is type 1 SMD

Question 23

What is Charcot-Marie-Tooth disease?

Answer 23

Hereditary motor sensory neuropathy
Causes symmetrical, slowly progressive distal muscle wasting
May present in preschool children with tripping from bilateral foot drop

Question 24

What is a key feature of CSF studies in Guillain-Barre syndrome?

Answer 24

High protein

Question 25

What is myotonic dystrophy?

Answer 25

Autosomal dominant trinucleotide repeat (CTG) disorder | Presents with hypotonia, feeding difficulties, respiratory difficulties and abnormal facies (in older children)

Question 26

List some causes of ataxia.

Answer 26

``` Friedreich ataxia Ataxia telangiectasia Cerebellar tumour Cerebellar agenesis/dysgenesis Post-infectious cerebellitis Toxins (e.g. ethanol) ```

Question 27

What is Friedreich ataxia and how does it present?

Answer 27

Autosomal recessive triplet repeat in FXN gene Worsening ataxia and dysarthria Distal wasting of lower limbs Absent reflexes Pes cavus (associated with Charcot-Marie-Tooth) Impairment of proprioception

Question 28

What are the main clinical features of ataxia telangiectasia?

Answer 28

``` Telangiectasia in the conjunctiva Mild delay in motor development Oculomotor problems Coordination problems Complex eye movement disorders ```

Question 29

What are the main features of NF1?

Answer 29

``` 6 or more cafe au lait spots Neurofibromas Axillary freckling Optic glioma Lisch nodules 1st degree relative with NF1 ```

Question 30

What are the main features of NF2?

Answer 30

Multiple schwannomas Meningiomas Ependyomas Bilateral acoustic neuroma

Question 31

List the main clinical features of tuberous sclerosis.

Answer 31

Cutaneous: ash leaf depigmentation, shagreen patches (roughened), angiofibromata (across the bridge of the nose) Neurological: developmental delay, epilepsy, intellectual disability

Question 32

What are the main features of Sturge-Weber syndrome?

Answer 32

Port wine stain in the distribution of the ophthalmic division of the trigeminal nerve Similar lesion intracranially May have epilepsy, intellectual disability and contralateral hemiplegia

Question 33

List some neurodegenerative conditions that occur in children.

Answer 33

``` Lysosomal storage disorders Peroxisome enzyme defects Wilson disease Tay Sachs Gaucher Niemann Pick ```

Question 34

What is adrenoleukodystrophy?

Answer 34

Group of disorders caused by peroxisomal defects Peroxisomes are important for breaking down fatty acids Neonatal and X-linked forms

Question 35

What are some clinical features of growing pains?

Answer 35

Age 3-12 Symmetrical pain not limited to joints Pain never present at the start of the day Physical activities not limited (no limp) Normal physical examination

Question 36

how does subluxation of the patella present?

Answer 36

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

Question 37

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

Answer 37

More than 4

Question 38

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

Answer 38

Breast milk - low iron content, high absorption | Cows milk - high iron content, low absorption

Question 39

List some clinical features of Edwards syndrome.

Answer 39

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

Question 40

List some clinical features of Patau syndrome.

Answer 40

``` Structural brain defects Small eyes Polydactyly Cardiac/renal malformations Death within 1 year ```

Question 41

List some clinical features of Klinefelter's syndrome.

Answer 41

``` Most common cause of male hypogonadism Small firm testes Tall Behavioural problems Delayed speech Gynaecomastia ```

Question 42

List some clinical features of fragile X syndrome.

Answer 42

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

Question 43

How is fragile X syndrome inherited?

Answer 43

X-linked dominant | Female carriers may have mild learning difficulties

Question 44

What is Still's disease?

Answer 44

Systemic form of JIA thought to be of autoimmune origin Intermittent pyrexia Salmon-pink rash Aches and pains of joints and muscles

Question 45

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

Answer 45

``` Low birth weight Prematurity Jaundice Microcephaly Seizures Anaemia Failure to thrive Encephalitis ```

Question 46

Which medication is used to chelate lead in lead poisoning?

Answer 46

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

Question 47

Which other condition can present very similarly to acute epiglottitis?

Answer 47

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

Question 48

Which murmur is typically heard in tetralogy of Fallot?

Answer 48

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

Question 49

Which tumour markers can be used for neuroblastoma?

Answer 49

Urinary catecholamines

Question 50

What is a craniopharyngioma?

Answer 50

Rare type of brain tumour derived from pituitary gland embryonic tissue

Question 51

Which tissue does neuroblastoma arise from?

Answer 51

Neural crest tissue in the adrenal medulla and sympathetic nervous system NOTE: MIBG scans are used to identify neurblastoma tissue

Question 52

Which tissue does nephroblastoma arise from?

Answer 52

Embryonal renal tissue

Question 53

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

Answer 53

Osteosarcoma NOTE: Ewing is common in younger children

Question 54

Describe the inheritance pattern of retinoblastoma.

Answer 54

Autosomal dominant | Located on chromosome 13

Question 55

What is a common benign cause of proteinuria in children?

Answer 55

Orthostatic (postural) proteinuria | Proteinuria is only found when the child is upright during the day

Question 56

List some features of Fanconi syndrome.

Answer 56

``` Polydipsia and polyuria Salt depletion and dehydration Hyperchloraemic metabolic acidosis Rickets Faltering growth ```

Question 57

List some causes of heart failure in neonates.

Answer 57

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

Question 58

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

Answer 58

Interrupted aortic arch | Others include persistent truncus arteriosus, TOF and VSD

Question 59

What are some features suggestive of atypical UTI?

Answer 59

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