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Phase 3a > 3a Paediatrics > Flashcards

3a Paediatrics Flashcards

1
Q

How would you summarise febrile seizures in 5 points?

A

(Tonic clonic) seizures that occur due to febrile episodes in children aged 6m to 6 years

Simple means a generalised tonic clonic seizure lasting < 15 minutes, occurring once per febrile episode and no more than once per 24 hours. All other seizure types (including focal) are complex febrile seizures.

No treatment is able to prevent febrile seizures

Associated with FHx and vaccinations (but do NOT stop vaccinations just because of febrile seizures)

If seizures last > 5 minutes then phone 999 and give BDZ (buccal midazolam or PR diazepam)

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2
Q

What is West syndrome?

A

Triad of: hypsarrhythmia + spasms + developmental regression/plateau

Cluster of spasms occurring around time of sleep/waking where the infant throws their hands up and draws knees into chest.

Distressed between spasms

Give vigabatrin and prednisolone

Associated with Sturge-Weber syndrome, tuberous sclerosis and other neurological disorders

Can developer Lennox-Gastraut syndrome later in childhood

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3
Q

What are the main forms of cerebral palsy and common causes?

A

Spastic
- Hemiplegic: typically from perinatal strokes
- Diplegic (no LD!): periventricular leukomalacia common in preterm birth
- Quadriplegic

Dyskinetic/athetoid/extrapyramidal
- Commonly caused by HIE/hypoxia during birth

Ataxic

Causes
- Antenatal: maternal infection, haemorrhage, cerebral ischaemia, maldevelopment in utero
- Perinatal: preterm, HIE, kernicterus,
- Post natal: NAI, meningitis, encephalitis, encephalopathy

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4
Q

What are the complications of cerebral palsy?

A

Neurogenic bladder
Constipation
GORD
Feeding problems
Learning difficulty
Seizures/epilepsy

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5
Q

How would spastic cerebral palsy commonly present?

A

UMN lesion
- Spastic
- Hyperreflexic
- UL flexors and LL extensors predominate

Hemiplegic: like a stroke
- Spastic/circumduction/hemiplegic gait

Diplegic: hands and legs involved but LEGS are more affected (scissoring gait with toe walking)
- Adduction of hip
- Hands are held flexed at wrists and elbows in prone

Quadriplegic: hands and legs severely affected so generally wheelchair bound

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6
Q

How would athetoid/dyskinetic cerebral palsy commonly present? What is their muscle tone like?

A

Writhing movements (athetosis)
Dystonia
Chorea

Tone is increased when awake but decreased when sleeping

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7
Q

What is the gross motor functional classification scale?

A

1 - no impairment

2 - slight impairment but can mobilise without aids

3 - impairment requiring help to walk with aids

4 - wheelchair bound but can self-mobilise

5 - completely dependent on others to mobilise

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8
Q

What are the features of an ASD?

A

Partial AVSD has apical pansystolic murmur

ASD murmur (septum secundum):
- Fixed split S2
- Mid systolic crescendo-decrescendo murmur in upper left sternal border

Presentation:
- Can be asymptomatic or have dyspnoea/fatigue/failure to thrive/symptoms of HF
- Stroke > PE (emboli can bypass lungs)
- Small aortic knuckle on CXR

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9
Q

What can you hear in adult-type coarctation? What are the radiological findings?

A

Ejection systolic murmur (high pressure needed to pump) in infraclavicular and scapular areas

Rib notching and ‘3’ sign are visible on CXR

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10
Q

What are the features of a VSD?

A

Murmur:
- Small VSD = loud pansystolic murmur lower left sternal edge with soft P2
- Large VSD = soft pansystolic murmur lower left sternal edge with loud P2

Presentation:
- Can be asymptomatic or present with signs of heart failure

Association’s:
- Trisomy 21
- Turner syndrome

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11
Q

What makes a murmur ‘“innocent”?

A

Systolic
Small
Can vary with position
Child is well
No added sounds and no other symptoms
Does not radiate

Venous hum
- Continuous blowing below clavicles
- The sound of venous return to heart

Still’s murmur
- Low pitch
- Lower left sternal edge

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12
Q

How does patent ductus arteriosus present?

A

Murmur
- Located left upper sternal edge and can radiate to the back
- Machinery murmur (continuous) that is particularly loud during S2
- Normal S1

Examination
- Bounding pulse
- Collapsing pulse
- Wide pulse pressure

Presentation
- Failure to thrive
- Those of heart failure (SOB, difficulty feeding, poor weight gain)

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13
Q

How does infantile-type coarctation present?

A

Infantile = coarctation is before ductus arteriosus + is duct dependent and will narrow further when duct closes

Collapse and shock within first few days of life due to closure of ductus arteriosus and obstruction of left outflow tract
- Absent femoral pulses
- Tachypnoea
- Grey floppy baby
- Poor feeding

Metabolic acidosis on blood gases

Manage by A-E resuscitation + early prostaglandin E to keep duct patent followed by corrective surgery

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14
Q

What signs are associated with coarctation of the aorta?

A

Absent femoral pulses, radio-femoral delay
Hypertension
Ejection systolic murmur

Turner syndrome

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15
Q

What are the complications of acyanotic heart disease?

A

Infective endocarditis
Eisenmenger syndrome
Heart failure, pulmonary hypertension and RVH

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16
Q

What are some causes of enuresis in children?

A

Most dry by day at 2 and dry by night at 3-4

Overactive bladder
Stress incontinence
Diabetes
Constipation
Psychosocial stress
Deep sleep and weak bladder signals
Overconsumption of fluids before bed
Recurrent UTI
LD and cerebral palsy
Normal variation in development

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17
Q

What is the triad associated with hyposphadias?

A

Chordee
Ventral urethral opening
Hooded prepuce

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18
Q

How would you manage nephrotic syndrome?

A

Steroids (prednisolone) or immunosuppressants (cyclophosphamide, ciclosporin)
Diuretics
Anti-hypertensives
Statins
DOAC

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19
Q

What is associated with minimal change disease?

A

Idiopathic

Hodgkin’s lymphoma, leukaemia

Hepatitis, HIV, TB

Atopy

NSAIDs, lithium, bisphosphonates

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20
Q

What are the complications of nephrotic syndrome?

A

CKD/AKI

Pleural effusion/ascites/oedema

Hypovolaemic shock

VTE

Infection

Hyperlipidaemia and CVD

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21
Q

What is focal segmental glomerulosclerosis?

A

A cause of nephrotic syndrome

Has podocyte effacement and segmental sclerosis/hyalinosis of the glomerulus

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22
Q

What is membranous nephropathy?

A

Spike and dome appearance (C3 x IgG)
Diffuse (vs FSG) thickening of glomerular BM and capillary loops
Cause of nephrotic syndrome

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23
Q

How would nephrotic syndrome present?

A

Oedema (periorbital, ascites, peripheral)
Frothy urine without haematuria (>3.5 g/day)
Recurrent infections
Hyperlipidaemia
Hypoalbuminuria
Recurrent VTE

Fatigue, dyspnoea due to effusions from low albumin

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24
Q

How would nephritic syndrome present?

A

Haematuria (Coca-Cola coloured urine)
Oedema/ascites (mild)
Mild proteinuria < 2 g/day
Hypertension
Renal dysfunction (vs normal in nephrotic) = pruritus, N&V, oligouria
RBC casts in urine

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25
Q

What are the common causes of nephritic syndrome?

A

Post-streptococcal glomerulonephritis
IgA nephropathy (Berger’s disease)
Haemolytic uraemic syndrome
Henoch-Schonlein purpura
Thin basement membrane disease
Anti-GBM (Goodpasture’s) disease
Alport syndrome

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26
Q

What is IgA nephropathy?

A

Type 3 hypersensitivity where immune complexes are deposited in the kidneys

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27
Q

What is post-streptococcal GN?

A

Type 3 hypersensitivity reaction occurring post-group A streptococcus infection (not immediate)

Bacterial antigen is trapped in glomerulus and antibodies attack glomeruli causing glomerulonephritis

Test for ASO titres or anti-DNaseB or throat swab

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28
Q

What is haemolytic uraemic syndrome?

A

Triad of: AKI + microangiopathic haemolytic anaemia + thrombocytopenia

Occurs after Shigella or Shiga-toxin producing E.coli infection (hence preceeded by bloody diarrhoea + abdominal pain)
- Can have bruises due to low platelets

Special investigations: stool MCS, NORMAL coagulation screen (PT, APTT)

Management: INFORM PHE + supportive therapy for nephritic syndrome if needed (diuretics, antihypertensives, dialysis, maintain fluid balance)

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29
Q

What is Henoch-Schonlein purpura?

A

ANCA - small vessel vasculitis causing IgA deposition in kidneys, skin, GI tract and joints

Causes arthritis (knees and ankles), fever, headache, anorexia, abdominal pain and extensor purpura alongside features of nephritic syndrome

Normal platelet count!

Preceeded by Rubella or URTI

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30
Q

What is anti-GBM disease?

A

Type 2 hypersensitivity against basement membrane antigens (T4 collagen)
Also has respiratory symptoms (haemoptysis, chest pain, etc.)

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31
Q

What is thin basement membrane disease?

A

Autosomal dominant inherited cause of nephritic syndrome

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32
Q

What is Alport syndrome?

A

Basketweave appearance on biopsy (sclerosis and fibrosis)

X-linked (recessive) disorder affecting T4 collagen in the kidneys, eyes (lenticonus + myopia) and ears (sensorineural hearing loss)

Maternal haematuria

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33
Q

How would you investigate nephritic syndrome?

A

Urine dipstick + MCS (RBC casts on microscopy)
P:Cr
FBC + film
Albumin
U&E
ESR/CRP
Anti-DNAse B or ASO titres or throat swab
C3/4
ANA
ANCA
Renal biopsy

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34
Q

What is the steroid ladder for eczema?

A

Hydrocortisone
Clobetasone
Betamethasone
Clobetasol

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35
Q

What are the complications of eczema?

A

Bleeding and pain
Secondary bacterial infection (S.aureus = give flucloxacillin)
Keratinisation (hyperkeratotic papules)
Decreased QoL due to cosmetic appearance and persistent itching

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36
Q

What is eczema?

A

Defective skin barrier means allergens/irritants can enter skin (predisposes to irritation/inflammation) causing immune response

Associated with atopy (hayfever, asthma, food allergies)

Presentation:
- Dry, red, itchy and swollen
- BME can have discoid/follicular appearance and also affect the extensor surfaces

Where?
- Infants: head, face, neck, trunk, extensor surfaces
- Older children: flexor surfaces

Managed by emollients +/- steroids
- Steroid creams before PO
- Can consider antihistamines (cetrizine, fexofenadine, loratadine)

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37
Q

How would you manage allergic rhinitis?

A

T1 hypersensitivity “allergies”

Prophylaxis:
- Avoid triggers
- Oral antihistamines (cetrizine, loratadine, fexofenadine)

Acute:
- Nasal antihistamines
- Nasal corticosteroids
- Oral corticosteroids

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38
Q

How much adrenaline wold you give children with anaphylaxis?

A

1 in 1000 (1 mg/mL) IM adrenaline
- 2nd dose after 5 minutes if no response

> 12 years: 500 micrograms (0.5mL)
6-12 years: 300 micrograms (0.3 mL)
6m to 6 years: 150 micrograms (0.15 mL)
< 6m: 100-150 micrograms (0.10-0.15 mL)

+ IV crystalloids

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39
Q

What are some features of anaphylaxis?

A

Angio-oedema especially of the face
Stridor and wheeze
Fatigue or reduced consciousness
Cough
Hoarse voice
Itching and urticaria
Shock: low BP, raised HR and RR
Cyanosis and increased WOB

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40
Q

What are the features of rheumatic fever?

A

JONES FEAR
Joints - flickering polyarthritis affecting knees and ankles (and others in quick succession)

Organs - pancarditis eventually leading to valve disease
- Tachy/bradycardia
- Friction rub
- HF

Nodules - subcutaneous nodules on extensor surfaces of joints

Erythema marginatum

Sydenham’s chorea (worse on 1 side and ceases with sleep)

Fever

Arthralgia

ECG changes (long PR, no carditis)

Raised ESR and CRP

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41
Q

What is the most common valve disease secondary to rheumatic fever?

A

Mitral stenosis

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42
Q

How would you treat impetigo?

A

No school until lesions healed or 48 hours of antibiotics

Non-bullous impetigo:
1 = hydrogen peroxide cream
2 = fusidic acid cream
3 = PO flucloxacillin (clarithromycin/erythromycin if allergic)

Bullous impetigo
1 = PO flucloxacillin

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43
Q

What is impetigo?

A

Superficial infection of the skin commonly caused by staphylococcus aureus or streptococcus pyogenes

Leaves a ‘golden crust’ on skin and is commonly found around the mouth and nose

Bullous impetigo = large vesicles present
- S.aureus is always the cause
- Can have systemic symptoms such as fever, malaise, lymphadenopathy
- Affects the face, trunk, limbs and flexures
- Can have pain and itching

Non-bullous impetigo = vesicles rapidly burst causing formation of characteristic golden crust

Swab for MCS only if recurrent/widespread infection

Complications: post-streptococcus GN, SSSS, scarlet fever, cellulitis

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44
Q

What are the risk factors for developing impetigo?

A

Overcrowding
Poor hygiene
Younger age
Defective skin barrier (eczema, scabies, chickenpox, cuts/grazes)

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45
Q

Which organisms cause impetigo?

A

Staphylococcus aureus
Streptococcus pyogenes

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46
Q

How many days of school is missed due to these infections?
- Measles
- Coxackie A16 or enterovirus 71
- HHV-6
- Rubella
- Scarlet fever
- Parvovirus B19

A

Measles = 4 days after symptoms resolve
Coxackie/enterovirus = none
HHV-6 = none
Rubella = 5 days after rash appears
Scarlet fever = 24 hours of antibiotics
Parvovirus B19 = none

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47
Q

Can you summarise measles?

A

Prodrome of coryza, conjunctivitis, cough and Koplik spots leading up to high fevers with a non-pruritic generalised maculopapular rash that starts in the face but spreads to the rest of the body

Otitis media is the most common complication (but can also get pneumonia, diarrhoea, hearing/vision loss, death, subacute sclerosis panencephalitis)

Investigations
- Saliva PCR
- Serology for IgM/IgG from day 3

Inform PHE and avoid school until 4 days from when symptoms resolve

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48
Q

Can you summarise Parvovirus B19?

A

Coryzal prodrome leading to bilateral erythematous rash on cheeks
- Followed by erythematous rash on trunk and limbs
- +/- itching

VERY bad for pregnant women so they (and anyone immunocompromised) are screened for IgM/G + rubella + (+/- FBC as can get aplastic anaemia if immunocompromised)

Not infectious from appearance of rash so no need to avoid school or inform PHE

Other complications include: encephalitis, meningitis, myocarditis, hepatitis, nephritis

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49
Q

What is roseola infantum?

A

HHV-6/7

Rash appearing after the resolution of high fevers and is not infectious once appearing (no need to avoid school or inform PHE)

The rash is diffuse, non-pruritic and affects the whole body

Associated with febrile convulsions

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50
Q

What is scarlet fever?

A

Scarlet fever is a complication of streptococcus pyogenes infection (caused by toxins)

Presents with
- Prodrome of pharyngitis/tonsillitis
- Strawberry tongue
- SANDPAPER rash (rough and maculopapular)
- Flushed cheeks/chin with perioral sparing
- Fever, fatigue, lymphadenopathy, malaise

Inform PHE and avoid school until 24 hours of antibiotics (phenoxymethylpenicillin)

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51
Q

What rash do you see with scarlet fever?

A

Rough/raised maculopapular SANDPAPER-like rash

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52
Q

Can you summarise mumps (paramyxovirus)?

A

Prodrome of fever, flu-like symptoms followed by bilateral parotitis

Investigations:
- Saliva IgM or serum IgM/G

Inform PHE and avoid school for 5 days from onset of parotitis

Complications include pancreatitis, pericarditis, hepatitis, encephalitis, meningitis, nephritis, thyroiditis, epididymo-orchitis and infertility

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53
Q

What is HMFD?

A

Coxackie A16 or enterovirus 71

Prodrome of fevers, malaise, coryza

Irritable clingy and miserable child as lesions are painful

Vesicular lesions/ulcers in mouth
Maculopapular lesions on the hands and feet (commonly dorsum, not palms/soles)

No need to avoid school

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54
Q

What is rubella?

A

Milder fever and rash compared to measles
- No conjunctivitis or Koplik spots
- Rash starts in face and spreads to rest of body (erythematous, lacy, ill-defined rash)
- Non-pruritic

Can have lymphadenopathy, sore throat and arthralgia

IgM and IgG serology

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55
Q

What sign do you see in SSSS?

A

Nikolsky’s sign - gentle pressure causes bullae to peel

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56
Q

How would you describe staphylococcus scalded skin syndrome?

A

Complication of S.aureus infection due to toxin production (protease enzymes .-.)

Starts as generalised erythema > thinning of skin + bullae formation > bullae rupture and ‘scalded’ blister-like appearance that is painful

Fevers + Nikolsky’s sign

IV flucloxacillin (clarithromycin/erythromycin if allergic) 7-10 days

Skin swab and nasal swab

Skin heals well

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57
Q

SSSS vs TSS?

A

TSS has flu-like symptoms, early multiple organ failure and signs of shock/disorientation
TSS can also be caused by streptococcus pyogenes

TSS:
- A to E
- (Clindamycin/linezolid) + (vancomycin/cephalosporin)
- Blood cultures
- FBC (low platelets, raised WCC)
- Raised LFT and U&Es (low calcium!)

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58
Q

What are the most common causes and complications of congenital hypothyroidism?

A

Causes:
- Iodine deficiency (worldwide)
- Agenesis or maldescended thyroid (UK)
- Dyshormonogenesis (normally due to consanguinity)

N.B., dyshormonogenesis can be distinguished from agenesis/maldescent as there can be goitre

Complications: CRETINISM (impaired growth and IQ with characteristic appearance)

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59
Q

When would you suspect congenital hypothyroidism?

A

Prolonged jaundice
Umbilical hernia
Hypotonia
Large posterior fontanelle
Large protruding tongue and coarse skin
Lethargy, poor feeding and constipation
Bradycardia
Slow relaxing reflexes

Floppy, lazy yellow baby with a protruding tongue and umbilicus

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60
Q

What are the associations and complications of trisomy 21?

A

Associations:
- AVSD
- VSD
- Tetralogy of Fallot
- Patent ductus arteriosus
- Hypothyroidism
- Duodenal atresia (double-bubble on x-ray)
- Hirschsprung’s disease

Complications
- Leukaemia (ALL)
- Early-onset Alzheimer’s disease
- Recurrent otitis media with effusion

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61
Q

What are the characteristic features of trisomy 21?

A

HYPOTONIA + umbilical hernia

Hands and feet
- Single transverse palmar crease
- Short fingers that are curved
- Short stature
- Gap between hallux and second toe (hallux valrus)

Face:
- Low-set ears
- Prominent epicanthic folds and upward slanting eyes
- Flattened occiput (brachycephaly)
- Short neck
- Flat nasal bridge
- Brushfield spots on iris
- Protruding tongue
- Learning difficulty

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62
Q

When would you suspect trisomy 21 on antenatal testing?

A

Increased nuchal thickness on dating scan (11-13+6)

Combined test: until 14+1
- PAPP-A (low)
- Beta-hCG (high)

Quadruple test: from 14+2
- Inhibin (high)
- Oestradiol (low)
- AFP (low)
- Beta-hCG (high)

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63
Q

What are the causes of trisomy 21?

A

Non-dysjunction during oogenesis
Robertsonian translocation with C14
Mosaic

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64
Q

What congenital conditions are associated with leukaemia?

A

Trisomy 21
Noonan syndrome for juvenile myelomonocytic leukaemia

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65
Q

How would you investigate leukaemia?

A

FBC + blood film (blast cells, AML also has Auer rods)
Immunophenotyping
Bone marrow and lymph node biopsy
LDH (raised; allopurinol for tumour lysis syndrome)

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66
Q

What is the timeframe for referral/investigations in a child with suspected cancer?

A

48 hours

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67
Q

What are the features of acute leukaemia?

A

Pancytopenia:
- Anaemia (pallor, fatigue, dyspnoea, chest pain)
- Thrombocytopenia (bruising and bleeding/petechiae)
- Neutropenia (recurrent infections)

General/systemic:
- Fever, fatigue, weight loss, loss of appetite/poor feeding and night sweats
- Generalised bone pain
- Hepatosplenomegaly
- Lymphadenopathy

AML: <2 years
- Gum hypertrophy

ALL: 2-5 years and better prognosis
- Headache
- Cranial nerve involvement

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68
Q

What is neuroblastoma?

A

Neuroblastoma is a tumour arising from embryonal neural crest cells (commonly adrenal medulla and SNS)

It commonly affects children < 5 years (average 2y years)

Presentation
- Abdominal mass that crosses midline
- Abdominal distension/pain
- Can cause constipation and urinary retention/incontinence
- Limp and bone pain
- Hepatosplenomegaly
- Lymphadenopathy
- Fever, weight loss, night sweats, poor feeding, irritability/lethargy

Investigations
- USS abdomen (calcification)
- Urinary homovanillinic acid and vanillylmandelic acid (raised)
- Biopsy + histology
- CT or MRI for staging
- Bone scan

Management
- Active monitoring if < 1 year as can resolve spontaneously
- Surgical resection
- Chemoradiotherapy

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69
Q

Which gene is associated with neuroblastoma?

A

M-YCN

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70
Q

What is raised in tumour lysis syndrome?

A

Chemotherapy makes you feel like PUP

Potassium
Uric acid
Phosphate

Give allopurinol

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71
Q

What are some (paraneoplastic) complications of neuroblastoma?

A

Subcutaneous nodules
Orbital ecchymosis
Periorbital swelling/proptosis
Secretory diarrhoea
Horner’s syndrome
SVC syndrome
Spinal cord compression

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72
Q

What syndrome is associated with neuroblastoma?

A

Opsthoclonus-myoclonus-ataxia

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73
Q

Can you summarise retinoblastoma in 5 points?

A

Do NOT biopsy the eye 👁️

Retinoblastoma is the most common intraocular tumour in children and can be inherited via AD inheritance (especially if bilateral) due to loss of function of retinoblastoma tumour suppressor gene on C13

Presents with absent red reflex, strabismus/squint, visual deterioration +/- large eye

Investigations include investigation under anaesthetic + MRI NOT biopsy

Management can be chemoradiotherapy, photocoagulation, and surgical excision/enucleation if necessary

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74
Q

How would you describe Wilm’s tumour and its management?

A

Associated with Turner syndrome, WAGR (aniridia, GU malformation and reduced IQ) and Beckwidth-Wiedemann syndrome

Metastasises to lungs

Wilm’s tumour is a nephroblastoma, and is the most common cause of abdominal masses in children

Presentation (child is normally well with a big tummy)
- Abdominal mass and distension that does not cross the midline +/- pain in flank
- Haematuria
- Hypertension
- Fever, weight loss and night sweats are rare
- Irritability, lethargy, poor feeding are also rare

Investigations
- Abdominal USS
- Biopsy + histology (small round blue cells)
- CT/MRI to stage

Management
- Chemotherapy followed by surgery
- +/- radiotherapy

Good prognosis with 80% cure

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75
Q

What are the main categories of brain tumours found in children?

A
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76
Q

What is a craniopharyngioma and how does it present?

A
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77
Q

How would brain tumours present in children?

A
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78
Q

Can you summarise rhabdomyosarcoma in 5 sentences?

A

Rhabdomyosarcoma is the most common soft-tissue sarcoma, arising from rhabdomyoblasts, in children and it most commonly affects the head/neck and GU/bladder

Presentation
- Expanding lump
- Head and neck = proptosis, nasal obstruction, bloody nasal discharge
- GU/bladder = bloody PV discharge, haematuria, dysuria

Management
- Chemoradiotherapy
- Surgical excision is difficult as borders are not clear but is still performed

Metastasises to lung, liver and bone

Can occur in cardiac muscle of tuberous sclerosis patients

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79
Q

What is Ewing’s sarcoma and what will you see on x-ray and biopsy?

A

Ewing’s sarcoma tends to affect the diaphysis of long bones and pelvis

Associated with t(11;22) and M>F

Occurs in younger children (vs osteosarcoma)

X-ray: onion-skin appearance + Codman’s triangle

Biopsy: small round non-osteoid producing blue cells

Presentation:
- Swelling/mass
- Bone pain (severe, unremitting, non-weight bearing, occurring at night)
- Fever, weight loss and night sweats
- Decreased appetite

Management:
- Chemoradiotherapy (vincristine + ifosfamide + doxorubicin + etoposide)
- Surgery

Metastasis to lungs

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80
Q

What is osteosarcoma and what do you see on biopsy and x-ray?

A

Most common bone sarcoma in children which affects the metaphysis of long bones before closure of epiphysis
Femur > tibia > humerus

X-ray: sunburst appearance + Codman’s triangle

Systemic symptoms are less common
Normally swelling, limp, bone pain

Investigations:
- ALP and LDH (raised)
- X-ray
- Bone biopsy
- CT/MRI/bone scan for staging

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81
Q

What are the risk factors for developing brain tumours in childhood?

A

Neurofibromatosis type 1
Neurofibromatosis type 2
HNPCC

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82
Q

Where are these tumours located?
- Astrocytoma
- Ependymoma
- Craniopharyngioma
- Pontine glioma
- Medulloblastoma

A
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83
Q

What is an astrocytoma?

A
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84
Q

What is an ependymoma?

A
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85
Q

Can you summarise Langerhan’s cell histiocytosis?

A

Not a malignancy - abnormal proliferation of Langerhans APC/dendritic cells which are normally only present in the skin

Can present with fatigue, weight loss, lymphadenopathy, hepatosplenomegaly and widespread seborrhoeic rash

Causes diabetes insipidus if hypothalamus is infiltrated

Lytic bone lesions can cause pain/swelling/fracture

Treatment is with chemotherapy and prognosis is good

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86
Q

What is Hodgkin’s lymphoma? How would you investigate and treat it?

A

Hodgkin’s lymphoma has Reed-Sternberg cells

Painless asymmetrical lymphadenopathy that becomes painful after alcohol

Investigations: CXR, lymph node biopsy + histology, CT/MRI/bone scan to stage
- FBC anaemia, low lymphocytes
- LDH (raised)
- ESR and CRP
- HIV
- Albumin (low)

B-symptoms: fever, weight loss, night sweats

ABVD chemotherapy + radiotherapy
- Adriamycin
- Bleomycin
- Vincristine
- Doxorubicin

Commoner in older adolescents

Types:
- Nodular sclerosis
- Mixed cellular ITU
- Lymphocyte predominant
- Lymphocyte depleted

Risks:
- EBV infection (especially lymphocyte depleted)
- Immunosuppression

Complications including those from treatment:
- GBS
- AML
- Breast cancer

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87
Q

What is non-Hodgkin’s lymphoma?

A

Lymphoma without Reed-Sternberg cells
- Can affect both T and B lymphocytes

More common in childhood (vs Hodgkin’s which is common in adolescence)
- High grade > low grade
- High-grade precursor T/B lymphoblastic and small noncleaved lymphomas are the most common in childhood

Risks: HIV, EBV infection, immunosuppression

Investigations are the same as Hodgkin’s

Presentation:
- Painless lymphadenopathy
- B symptoms and systemic symptoms are more common in high-grade lymphomas
- Hepatosplenomegaly
- Mediastinal mass + SVC syndrome

Types:
- High grade: Burkitt’s, diffuse large B-cell, mediastinal large B cell, primary CNS lymphoma
- Low grade: follicular lymphoma, MALT lymphoma

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88
Q

What are some complications of Hodgkin’s lymphoma?

A

Guillain-Barré syndrome
Nephrotic syndrome and minimal change disease

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89
Q

What is Kallmann syndrome and what are some common features?

A
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90
Q

What is the earliest ‘normal age’ when puberty begin in females? What is the stepwise progression?

A

8 years (range 8-14y)
Breast budding - thelarche
Pubic hair growth - adrenarche
Start of menstruation - menarche

Average age of menstruation is around 12

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91
Q

What is the earliest ‘normal age’ when puberty begin in males? What is the stepwise progression?

A

9 years (range 9-15y)
Males grow after testicular enlargement while females grow before breast budding

Testicular enlargement
Pubic hair growth
Scrotal darkening

Tanner 1 - pre-pubertal
Tanner 2 - testicular enlargement > 4mL, hair at base of penis
Tanner 3 - testicular and penile enlargement, hair spreads to mons pubis
Tanner 4 - darkening of scrotum, development of glans penis and continued growth, hair adapts adult-like pattern but does not spread to thighs
Tanner 5 - adult features

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92
Q

What are some causes of central precocious puberty?

A

Idiopathic (F>M)
Obesity
Craniopharyngioma
Meningitis/head-injury/radiotherapy
Hydrocephalus
Neurofibromatosis
Primary hypothyroidism
Haemorrhage

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93
Q

What are some causes of delayed puberty?

A

Endocrine/genetic:
- Kallmann syndrome
- Turner’s syndrome
- Kleinfelter’s syndrome
- Androgen insensitivity syndrome
- Constitutional delay (FHx)
- Craniopharyngioma

Nutrition:
- Malabsorption (IBD, coeliac)
- Excessive exercise
- Inadequate intake

Excessive stress:
- NAI
- Social stressors (school, family)

Iatrogenic:
- Chemoradiotherapy

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94
Q

What are some causes of hypogonadotrophic hypogonadism?

A

GH deficiency
Hypothyroidism
Hyperprolactinaemia
Cystic fibrosis
Kallmann syndrome
Radiotherapy
Surgery
Excessive exercise/malnutrition/inadequate intake
Craniopharyngioma
Constitutional delay

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95
Q

What are some causes of hypergonadotrophic hypogonadism?

A

Turner syndrome
Kleinfelter syndrome
Androgen insensitivity syndrome
Testicular torsion/ovarian torsion
Radiotherapy in childhood
Congenital absence of internal genitalia (AIS)

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96
Q

What are the first line investigations for delayed puberty? When would you consider investigating?

A

FSH and LH
U&E
FBC
Ferritin
Anti-TTG or anti-EMA

Females at 13 and males at 14 if no signs of puberty, or if puberty has started but not progressed for at least 2 years

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97
Q

What further investigations would you perform for delayed puberty?

A

TFT
Early morning FSH and LH (?is this first line?)
GH or IGF-1
Serum prolactin

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98
Q

What are some causes of gonadotropin independent precocious puberty?

A

Congenital adrenal hyperplasia
McCune-Albright syndrome
Adrenal or liver tumours
Gonadal tumours

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99
Q

Where is the cause of precocious puberty in males?
- Bilateral testicular enlargement
- Unilateral testicular enlargement
- Small testicles

A

Bilateral = central GnRH release
Unilateral = gonadal tumour
Small testes = adrenal origin

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100
Q

How would you investigate precocious puberty?

A

Oestrogen/testosterone levels
Bone age
Adrenal androgens
MRI head
Pelvic USS
Intra-abdominal imaging

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101
Q

What is McCune-Albright syndrome?

A

Random GNAS mutation during development

Precocious puberty (due to excessive oestrogen produced by an ovarian cyst)

Cafe au lait spots

Fibrous dysplasia of bones

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102
Q

How would you ‘stop’ puberty?

A

GnRH analogues (goserelin, leuprorelin, histrelin)

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103
Q

What is androgen insensitivity syndrome?

A

X-linked recessive condition affecting XY karyotype where cells are unresponsive to androgens - foetus develops with a female phenotype

Presents in adolescence with tall female and delayed puberty
There is breast development but absent axillary and pubic hair
Rudimentary testes in abdomen

Investigations
- Pelvic USS = absent female internal reproductive organs
- Genetic karyotyping
- FSH and LH (raised)
- Oesrogen (raised > normal male level)
- Testosterone (raised > normal female level)

Management
- Oestrogen replacement
- Removal of testes to prevent testicular cancer

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104
Q

How is androgen insensitivity syndrome inherited?

A

X-linked recessive

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105
Q

What is congenital adrenal hyperplasia?

A

Autosomal recessive condition where there is a deficiency in 21 hydroxylase leading to excess androgen production but decreased mineralocorticoid and glucocorticoid production

Low cortisol stimulates ACTH release leading to adrenal hyperplasia and increased androgens (can have skin pigmentation)

Salt-wasting
- Presents early in life (if not at birth due to virilization of genitalia) with shock
- Low sodium, high potassium, low glucose
- Metabolic acidosis

Non-salt wasting
- Can present in later childhood with precocious puberty due to excess androgens
- Females can be tall and have facial hair
- Males are tall but have small testicles
- Skin hyperpigmentation

Investigations
- GS: corticotrophin stimulation
- Androgens (raised)
- Cortisol (low)
- U&Es

Management (salt-wasting)
- Hydrocortisone + fludrocortisone replacement

Management in female adults
- COCP or flutamide

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106
Q

How would you manage congenital adrenal hyperplasia of a female foetus in-utero?

A

Give maternal dexamethasone/steroids

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107
Q

When would you suspect T18 or T13 on antenatal testing?

A

Increased nuchal thickness

Combined test:
- PAPP-A (low)
- Beta-hCG (low)

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108
Q

What is Fragile X syndrome?

A

X-linked DOMINANT CGG trinucleotide expansion >200 repeats (fragile X mental retardation 1 gene) causing learning difficulty (IQ < 70; delayed speech and language)

Associated with ASD, ADHD and epilepsy

Presents with elongated face, large jaw/nose/ears/hands/feet and testicles
Hyper mobile joints + pes planus
- Females are not normally severely affected but can have premature ovarian failure

Cardiovascular complications include mitral valve prolapse

109
Q

How is fragile X syndrome inherited?

A

X-linked dominant

110
Q

What valve disease is associated with Fragile X syndrome?

A

Mitral valve prolapse

111
Q

How will someone with William’s syndrome present?

A

William’s syndrome is a chromosomal abnormality affecting chromosome 7 (random deletion > AD inheritance)

Patients are generally very social (LD but better than average social skills)

Facial features:
- Starburst eyes
- Wide smile (large mouth and widely spaced small teeth)
- Wide forehead, small jaw
- Long philtrum
- Flattened nasal bridge
- Widely spaced eyes
- Periorbital fullness + full cheeks/lips
- Anteverted nares

Short stature

112
Q

What are some associations with William’s syndrome?

A

Hypercalcaemia
Supravalvular aortic stenosis
Hypertension
ADHD

113
Q

What are some associations with Turner’s syndrome?

A

Coarctation of the aorta (dissection, aneurysm)
Bicuspid aortic valve + ejection systolic murmur (AS due to bicuspid valve)
Hypergonadotrophic hypogonadism
Wilm’s tumour
Hypothyroidism
Horseshoe kidney
Autoimmune diseases (coeliac, T1DM, alopecia, IBD)

114
Q

What is Turner syndrome?

A

45 XO - missing one X chromosome

Features:
- Short stature
- Short 4th metacarpal
- Primary amenorrhoea
- Webbed neck, widely-spaced nipples
- Low posterior hairline and low set ears
- Pectus excavatum
- Multiple pigmented naevi
- Cubitus valrus

Investigations
- FSH and LH (raised)
- Chromosomal analysis

Management:
- Growth hormone to help with growth
- During puberty start oestrogen + progesterone

115
Q

What is the aetiology of Turner’s syndrome?

A

X chromosome deletion
Deletion of short arm of one X chromosome
Mosaicism

116
Q

What illnesses are associated with Turner’s syndrome?

A

Hypertension
Coarctation
Hypothyroidism and other autoimmune diseases
Recurrent otitis media
Wilm’s tumour

117
Q

What cancer is associated with Turner’s syndrome?

A

Nephroblastoma (Wilm’s tumour)

118
Q

What chromosomal conditions are associated with hypothyroidism?

A

Turner’s syndrome
Trisomy 21

119
Q

What is Kleinfelter’s syndrome? Can you summarise in 5 points?

A

Kleinfelter’s is a form of hypergonadotrophic hypogonadism caused by chromosomal abnormality (XXY) due to non-dysjunction during maternal oogenesis

Males tend to be tall, have female pattern pubic hair no beard/chest hair, wide hips, gynaecomastia, small testes and decreased libido
Can have slight decrease in IQ compared to average population

Management includes androgen/testosterone replacement to help with secondary sexual characteristics, mastectomy and IVF for fertility

Complications include infertility (azoospermia), psychosocial issues, low BMD and increased risk of breast cancer compared to the male population

Can also be affected by other ‘female’ diseases such as VTE, autoimmune conditions and anxiety/depression

120
Q

What is Angelman syndrome?

A

Genetic condition affecting chromosome 15 UBE3A
- Either 2 copies of C15 from father or abnormal C15 from mother (essentially you need 1 healthy C15 from each parent to be ‘normal’)

Behaviour:
- Fascinated by water
- Very happy demeanour
- Inappropriate laughter
- Walks with hands in the air + hand flapping
- ADHD
- Abnormal sleep pattern

Physical features:
- Light hair + blue eyes + fair skin
- Wide mouth and widely spaced teeth
- Microcephaly

Associated with developmental delay (especially speech), learning difficulty, epilepsy and ataxia

121
Q

What is Prader-Willi syndrome?

A

Genetic condition where there is an absence or abnormality in chromome 15 from the father
- Either two C15 from mother or C15 from father is defective (e.g., microdeletion)

Presentation:
- Genitalia
= Cryptorchidism at birth and hypoplasia of genitalia

  • MSK
    = MARKED hypotonia as an infant and poor feeding
    = Short stature
  • Facial features
    = Upward slanting narrow spaced almond eyes
    = Thin lips and mouth
    = Downward slanting mouth
  • Behavioural
    = Learning difficulty
    = ASD like behaviours
    = Insatiable appetite and food seeking behaviour

Management:
- Physiotherapy + regular exercise + low calorie diet + ensure the child does not have access to food
- Growth hormone to promote growth and improve muscle development

122
Q

Why do Angelman and Prader-Willi syndrome occur?

A

Due to IMPRINTING

123
Q

What are some complications of Prader-Willi syndrome?

A

Sleep apnoea
High BMI, DM, HTN, cardiovascular disease
Hypogonadism = infertility and osteoporosis
Growth hormone deficiency

124
Q

What is Noonan syndrome?

A

Autosomal dominant inherited chromosomal abnormality (PTPN11 on chromosome 12)

“Turner syndrome” that also affects males

Widely spaced nipples
Webbed neck
Pectus excavatum
Low posterior hairline and low set ears
Downward sloping widely spaced eyes + ptosis
Short stature
Small jaw but wide forehead (inverted triangle)

Management:
- Give GH
- Manage co-morbidities

125
Q

What conditions are associated with Noonan’s syndrome?

A

Pulmonary stenosis
Atrial septal defect
Hypertrophic cardiomyopathy
Neuroblastoma
Leukaemia

Cystic hygroma on USS antenatally

126
Q

Which collagen is affected in osteogenesis imperfecta?

A

Type 1 collagen
AD inheritance is most common

127
Q

What are some complications of osteogenesis imperfecta?

A

Aortic root widening
Kyphoscoliosis (reduced FVC)
MV prolapse
Pain
Aortic incompetence

128
Q

What are some key features of osteogenesis imperfecta?

A

Recurrent fragility fractures
Blue sclera and hyper-mobility
Deafness and dental imperfection
Short stature
Bowed legs (femur)

129
Q

Can you summarise Ricket’s in 5 points?

A
130
Q

What are some differentials of Osgood-Schlatter’s disease?

A

Sever’s disease = similar pathophysiology but occurring at insertion of Achilles tendon onto the calcaneous

Osteochondritis desiccans = subchondral bone separates from surrounding area due to decreased blood supply

Chondromalacia patellae = softening of patella cartilage causing anterior knee pain when going up and down stairs (F>M)

Patella subluxation
Patella tendinitis

131
Q

What is Osgood-Schlatter’s disease?

A

Apophysitis of tibial tuberosity // repetitive strain injury

Affects the insertion of patella tendon at the tibial tuberosity

Patient will present with anterior knee pain, hard lump on tibial tuberosity and reduced active extension of knee (but normal passive ROM)

132
Q

What is Perthes’ disease?

A

Pathophysiology and epidemiology
- Avascular necrosis of the femoral head followed by revascularisation and reossification
- M>F
- Aged 5-10y

Presentation
- Progressive onset limp with limb shortening
- PAINLESS limp
- Hip and groin pain
- (Reduced internal rotation and abduction) = ABSENT for exam purposes?
- No fever

Associated with ADHD + short stature

Investigations
- XR: widened joint space, joint sclerosis
- Late XR: Gage’s sign, flattening of femoral head, fragmentation
- Bloods (normal)
- Technetium bone scan (normal)

Management
- BA < 6 years = conservative management (rest, crutches, bracing) + analgesia
- BA > 6 years = corrective surgery

Complications
- Early osteoarthritis

133
Q

What are some complications of an ASD?

A

Eisenmenger syndrome
Stroke
Atrial flutter or fibrillation
Pulmonary HTN and RHF

134
Q

What are some causes of patent ductus arteriosus?

A

N.B., patent ductus is normal until 28 days after birth/due date

Trisomy 21
CHARGE syndrome
Wiedemann-Steiner syndrome
Prematurity
Rubella

135
Q

What are the common causes of cyanotic congenital heart disease?

A

Tetralogy of Fallot

Hypoplastic left heart syndrome

Transposition of the great arteries

Ebstein’s anomaly

Tricuspid atresia/stenosis/displacement

136
Q

What is the Tetralogy of Fallot?

A

4 features
- VSD
- Overriding aorta
- Pulmonary stenosis and ejection systolic murmur +/- thrill head at upper left sternal border
- Right ventricular hypertrophy

Other features
- Heart failure (failure to thrive, recurrent chest infections, SOB, poor feeding, lethargy)
- Clubbing
- Cyanosis

Tet spells and management
- Periods of cyanosis during exertion (e.g., crying or feeding) which causes systemic vasodilation hence increasing the R>L shunt
- Resolves when relaxed
- Child may squat to increase peripheral vascular resistance/after load (so blood is more likely to flow to the heart rather than systemic circulation from right side of heart reducing the R>L shunt)
- Other management: BBlockers relax RV, IV fluids, supplementary O2, morphine to reduce breathlessness, phenylephrine to increase vascular resistance

Investigations
- CXR: boot shaped heart
- Echocardiogram

137
Q

How would you treat Tet spells?

A

Beta-blockers (relax RV)
Phenylephrine (increase systemic vascular resistance)
IV fluids (increase preload)
Morphine
O2

138
Q

What are the risk factors for developing Fallot’s tetralogy?

A

Pre-existing diabetes (not gestational DM)
Rubella
Alcohol in pregnancy

139
Q

What is transposition of the great arteries?

A

Pulmonary artery and aorta are connected to the left and right ventricles respectively so oxygenated blood keeps returning to the heart whilst deoxygenated blood is pumped to systemic circulation

These circulations do not mix so the infant presents extremely unwell (cyanosed and shocked) within hours-days of birth once PDA begins to close
- Survival depends on PDA, ASD, VSD so A-E resuscitation and prostaglandin E to maintain ductus arteriosus until corrective surgery

Associated with maternal diabetes (not gestational diabetes)

Single second heart sound

Investigations
- CXR = egg on string appearance with increased pulmonary vascular markings
- Echocardiogram

140
Q

What is Ebstein’s anomaly?

A

Pathophysiology:
- Congenital heart defect where RA is larger than RV as tricuspid valve is set lower down
- Tricuspid regurgitation is present so there is backflow into RA causing increased pressure within RA
- Most with Ebstein’s anomaly have co-existing ASD or patent foramen ovale which does not close due to the high pressure within right atrium causing a R>L shunt and cyanosis

Presentation:
- Heart failure (SOB, failure to thrive, poor feeding, lethargy, hepatomegaly)
- Tricuspid regurgitation (pansystolic murmur louder on inspiration)
- Gallop S3 and S4
- Cyanosis

141
Q

What is Ebstein’s anomaly associated with?

A

Wolf-Parkinson-White syndrome
Maternal lithium use
Patent foramen ovale/atrial septal defect

142
Q

Where does Wilm’s tumour metastasise to?

A

Lung lung lung lung lung

The LUNGS

143
Q

What is the 6 in 1 vaccine and when do babies get it?

A

8, 12 and 16 weeks old

Diphtheria, tetanus and pertussis
Polio
HiB
Hepatitis B

144
Q

What vaccines do you receive at 13/14 years school Y9

A

Meningitis ACWY
Diphtheria, tetanus and POLIO

Check MMR status

145
Q

What vaccines do you receive at 12-13 years of age?

A

2 doses of HPV

146
Q

What vaccines do you receive at 3 years and 4 months?

A

MMR dose 2
Diphtheria, tetanus, pertussis and polio

147
Q

What vaccines do you receive at 1 year?

A

MMR dose 1 of 2
Pneumococcal dose 2 of 2
HiB and meningitis C
Meningitis B dose 3 of 3

148
Q

What vaccines do you receive at 16 weeks?

A

6 in 1 (diphtheria, tetanus, pertussis, polio, HiB and hepatitis B)
Meningitis B dose 2 of 3

149
Q

What vaccines do you receive at 12 weeks?

A

6 in 1 (diphtheria, tetanus, pertussis, polio, HiB, hepatitis B)
Rotavirus dose 2 of 2
Pneumococcal dose 1 of 2

150
Q

What vaccines do you receive at 8 weeks?

A

6 in 1 (diphtheria, tetanus, pertussis, polio, HiB, hepatitis B)
Meningitis B dose 1 of 3
Rotavirus dose 1 of 2

151
Q

How many times are children vaccinated against meningitis B?

A

3 times at 8 weeks, 16 weeks and 1 year

152
Q

How many MMR doses are given?

A

2 doses
At 1 year and at 3 years 4 months

153
Q

How many rotavirus doses are given?

A

2, at 8 weeks and 12 weeks

154
Q

How many pneumococcal doses are given?

A

2
Given at 12 weeks and 1year

155
Q

How many doses of meningitis C are given?

A

2
Once as part of HiB + meningitis C at 1 year
Once as part of meningitis ACWY at 14 years

156
Q

How many doses of HiB are given?

A

4
3 in the 6 in 1 at 8, 12 and 16 weeks
1 in HiB + meningitis C at 1 year

157
Q

How many doses of tetanus and diphtheria are given?

A

4
3 during the 6 in 1
1 in the diphtheria, tetanus and polio booster at 13/14 years

158
Q

How many doses of pertussis are given?

A

3 in the 6 in 1 vaccine

159
Q

How many doses of polio are given?

A

4
3 in the 6 in 1
1 in the diphtheria + tetanus + polio booster at 13/14 years

160
Q

Which bones are commonly affected in osteosarcoma?

A

Femur, tibia and humerus

161
Q

What antibiotics are given in early-onset (<72hr old) neonatal sepsis?

A

IV benzylpenicillin + gentamicin

162
Q

What antibiotics are given in late-onset (>72hr old) neonatal sepsis if already in hospital?

A

IV flucloxacillin + gentamicin
+ metronidazole if necrotising enterocolitis

If coming from home, use cefotaxime + amoxicillin

Commonly caused by staphylococcus aureus

163
Q

How would you manage prematurity and vaccines?

A

Give according to chronological age

If born < 28 weeks give first set in hospital due to risk of apnoea

164
Q

What can you tell me about CMPA?

A

Allergy (IgE and non-IgE to milk proteins) to casein and whey

Investigations
- Eliminate milk from diet and reintroduction
- Can use skin test if suspecting IgE

Management
- Extensively hydrolysed formulas
- Amino acid formulas

165
Q

What are the IgE and non-IgE symptoms of CMPA?

A

IgE (acute onset)
- Anapylaxis (ABC problem + shock)
- Urticaria
- Angioedema
- Pruritus
- Dyspnoea, wheeze, stridor
- Rhinorrhoea

Non-IgE
- GI (nausea, vomiting, diarrhoea, abdominal pain, GORD)
- Poor weight gain
- Bloody and/or mucus-coated stools
- Pallor and tiredness
- Atopic eczema, pruritus and erythema

166
Q

How would you manage Crohn’s in children?

A

1st line: exclusive enteral nutrition
2nd line: PO corticosteroids (prednisolone/budesonide)

Others
- Aminosalicylates (sulfasalazine, mesalazine)
- Immunomodulators (AZT, MTX, mercaptopurine)
- Biologics (infliximab, adalimumab)
- Surgery and parenteral nutrition

167
Q

How would you mange UC in children?

A

Mild-moderate
- Aminosalicylates for induction and remission
- E.g., sulfasalazine, mesalazine
- Therefore: 5ASA (topical/PO) +/- prednisolone (PO)

Moderate-severe
- Induction: IV corticosteroids +/- surgery or ciclosporin/infliximab
- Remission: PO mercaptopurine or AZT

168
Q

How would IBD present and what are some extra-intestinal features?

A

Presentation
- Abdominal pain
- Weight loss, fever, fatigue, anorexia and pallor
- Poor growth and delayed puberty
- Tenesmus
- Bloody, mucous-coated stools that can float
- Change in bowel habit

Extra-intestinal
- Ankylosing spondylitis/arthritis
- Pyoderma gangrenosum
- Iritis
- Erythema nodosum
- Sclerosing cholangitis
- Aphthous ulcers/anaemia
- Clubbing/cirrhosis

Investigations
- FBC (anaemia, raised WCC and platelets)
- LFTs
- Faecal calprotectin
- ANCA
- CRP/ESR
- Stool microscopy and culture
- Colonscopy/endoscopy + biopsy

169
Q

How does GORD present in infants and children?

A
170
Q

How would you manage diarrhoea and vomiting in a child?

A

Do NOT give anti-diarrhoeals (e.g., loperamide or mebeverine) or anti-emetics!

Most-often the cause is viral so keeping hydrated is important
- If not dehydrated, continue with regular fluids or milk (BUT NO fizzy drinks or fruit juices) and offer ORS if at risk of dehydration
- If dehydrated = low osmolarity oral-rehydration salts +/- supplementation with normal fluids
- Avoid solid foods until fully rehydrated!

Investigations
- No routine bloods unless IV fluids = sodium, potassium, urea, creatinine and glucose
- Consider stool microbiology if no improvement by day 7 or recent travel
- Stool microscopy if septicaemia, blood or immunocompromised
- Blood culture if giving antibiotics

171
Q

What is constipation and how do you manage this in children? Would you perform any investigations?

A

Constipation
- < 3 spontaneous bowel movements a week
- Impaction = accumulation of faecal matter that is unlikely to spontaneously clear (overflow + palpable mass + constipation)
- N.B., breastfed babies have fewer bowel movements and this is normal

Presentation
- Abdominal distension and pain
- Urinary incontinence
- Overflow incontinence
- Retention posturing (standing on tip toes with arched back)
- Pain and STRAINING when opening bowels, bleeding (anal fissure from hard stool)
- Hard, dry stool (Bristol 1)
- Lack of appetite that improves after opening bowels

Investigations
- Depends on cause
- Never do a PR

Management same medications for disimpaction just in different doses
- 1st line = dietary advice (fluids, fibre) and encourage regular toileting
- 2nd line = osmotic laxative (macrogol/polyethylene glycol, lactulose)
- 3rd line = stimulant laxative (senna, bisacodyl, sodium picosulfate)
- 4th line = removal under anaesthetic

172
Q

What are some causes of constipation? Can you give some differentials by age?

A

All ages
- Dehydration and/or lack of fibre
- Strangulated hernia causing bowel obstruction
- Spina bifida
- Cerebral palsy
- Hypothyroidism
- Coeliac (rarely)
- Opioids
- Fissure causing pain

Infants
- CF (thick meconium plug)
- Hirschsprung’s

Children
- Behavioural
- IBD

Adolescents
- Behavioural
- IBD
- Pregnancy
- Laxative overuse

173
Q

What is the difference between Crohn’s and UC?

A

Crohn’s
- ANCA -
- Skipped lesions anywhere from mouth to anus (rectal sparing)
- Transmural inflammation (fissures, abscess, strictures, fistulas)
- Granuloma formation
- Bloody diarrhoea less common
- Colonoscopy: cobblestone appearance

Ulcerative colitis
- ANCA +
- Colon only and continuous inflammation
- Only mucosa and submucosa inflammation
- No rectal sparing
- Associated with primary sclerosing cholangitis and AS (HLA-B27)
- Smoking is protective
- Colonscopy: mucosal ulcer, goblet cell depletion, inflammatory infiltrates and crypt abscesses

174
Q

What is the difference between paediatric vs adult IBD?

A

Paediatric
- M > F
- Crohn’s > UC
- UC is pancolitis
- Crohn’s = ileo-colonic or colonic

Adult
- M = F
- Crohn’s < UC
- UC is left sided
- Crohn’s = terminal ileal without colon

175
Q

What is the fluid replacement regimen for maintenance fluids?

A

0.9% NaCl + 5% glucose

  • 1st 10 kg = 100 ml/kg
  • 2nd 10 kg = 50 ml/kg
  • Subsequently = 20 ml/kg

Then divide by 24 to determine rate per hour

176
Q

What fluid regimen do you give based on dehydration status?

A

Clinically well = maintenance fluids

Dehydrated = maintenance + deficits

Shocked = maintenance + deficits + bolus

177
Q

How to calculate fluid deficits?

A

For moderate (5%) or severe (10%) dehydrated and given over 24-48 hours

Formula = deficit (%) x 10 x weight (kg)

Deduct bolus from deficit!

178
Q

What fluids do you use for bolus in shock? How much do you give per kg?

A

0.9% NaCl without glucose or dextrose is used in resuscitation for shock

Give 10 ml/kg!

179
Q

Can you summarise G6PD deficiency for me?

A

Pathophysiology (ME, SEA, Afro-Caribbean descent = more common)
- X-linked recessive
- G6PD is involved in covering/reducing NADP+ into NADPH
- Deficiency = low NADPH and glutathione stores so cells are more susceptible to oxidative stress (e.g., during infection)
- Intravascular haemolysis

Causative agents
- Fava (broad) beans
- Infection
- Medications (aspirin, sulfonamides, sulfasalazine, anti-malarials, nitrofurantoin, trimethoprim, sulfonylureas)

Presentation
- Jaundice + those of anaemia
- Gallstones
- Splenomegaly
- Types
=Asymptomatic
= Sporadic (e.g., post-infection or medication)
= Chronic

Investigations
- Blood film (bite cells, Heinz bodies, reticulocytes, irregularly contracted cells)
- G6PD enzyme assay
- Serum bilirubin and urinary urobilinogen(raised unconjugated bilirubin)
- LDH (raised)
- FBC (low Hb, normal MCV)

Management
- Avoid causative agents
- Blood transfusion (rarely required)
- Renal support

180
Q

What is hereditary spherocytosis?

A

Pathophysiology (European descent = more common)
- AD inherited membranopathy
- Abnormal spectrin protein so cell membrane is permeable to sodium = increased Na+/K+ ATPase activity and more Na+ out
- Causes cell to become spherical to reduce SA:V ratio
- Round cells get trapped in spleen = extra-vascular haemolytic anaemia

Presentation
- Gallstones
- Leg ulcers
- Splenomegaly
- Fatigue, pallor, those of anaemia
- Childhood onset jaundice

Investigations
- Serum bilirubin (raised unconjugated bilirubin)
- LDH (raised)
- FBC (low Hb, normal MCV)
- Blood film (spherocytes, reticulocytes)
- Direct antibody test (negative)

Management
- Folic acid supplements
- Severe = splenectomy

181
Q

What is beta- thalassaemia?

A

Pathophysiology
- AR inheritance
- Reduced rate of 1 or more of the globin chains
- HbF = 2 alpha, 2 gamma
- HbA (normal adults) = 2 alpha, 2 beta
- HbA2 (abnormal) = 2 alpha, 2 delta

Beta thalassaemia
- Affects beta globin 2 genes per cell
- Chromosome 11

Presentation
- Trait is asymptomatic and test shows mild anaemia + raised HbA2
- Progressive severe anaemia (fatigue, pallor, dyspnoea)
- Skeletal deformity: frontal bossing, maxillary overgrowth
- Jaundice due to haemolytic anaemia (+ gallstones)
- Failure to thrive/delayed growth and puberty
- Splenomegaly

Investigations
- Film (microcytic hypochromic cells, raised reticulocytes, target cells)
- Skull XR (hair on end appearance)
- FBC (low Hb, low MCV)
- Iron studies (normal)
- Hb electrophoresis
- LDH, bilirubin (raised)

Management
- Regular blood transfusions + iron chelation (deferoxamine)
- Bone marrow transplant
- Splenectomy

182
Q

Can you summarise Von Willebrand’s disease for me?

A

Pathophysiology
- Commonest inherited bleeding disorder that varies in severity
- VWF roles: mediate adherence of platelets at sites of endothelial damage to form a platelet plug // binds and transports factor 7, protecting it from degradation

Presentation
- Easy bruising
- Mucosal bleeding (epistaxis, bleeding gums)
- Menorrhagia
- Increased bleeding post surgery or trauma

Investigations
- APTT (prolonged)
- PT (normal)
- VWF antigen (low)
- Ristocetin factor (abnormal)
- Factor 8 levels (normal)

Management
- Tranexamic acid
- Desmopressin
- WVF concentrates

183
Q

What are some good prognostic factors for ALL?

A

2-10y
Female
Caucasian
WCC < 50
No CNS disease

184
Q

What can you tell me about haemophilia?

A

Pathophysiology
- X-linked recessive bleeding disorder due to deficiency in factors 8 (A) or 9 (B)

Presentation
- Asymptomatic
- Haematoma
- Haemarthroses
- Mucocutaneous bleeding

Investigations
- Bleeding time (normal)
- Plasma factor 8/9 (low)
- FBC (normal platelets)
- PT (normal)
- APTT (prolonged)
- WVF (normal)

Management
- Tranexamic acid
- Factor 8/9 replacement (recombinant or concentrate)
- Desmopressin (preferred in MILD haemophilia A only, not used in B)

Severity
- Mild (5-40% normal) = bleeding after major trauma (like a healthy person)
- Moderate (1-5% normal) = bleeding after minor trauma
- Severe (<1% normal) = spontaneous bleeding into joints/muscles

185
Q

What is Fanconi anaemia?

A

Pathophysiology
- Most common inherited aplastic anaemia
- AR or X-linked
- FANC gene mutation causing cellular arrest in G2 phase so no cellular repair of DNA cross-links = haematopoetic stem cell loss

Presentation
- Pancytopenia
- Hypogenitalia, short stature, conductive deafness
- Small eyes and head
- Imperforate anus
- VACTERL-H association

Investigations
- GS: chromosomal breakage (DEB assay) of peripheral lymphocytes + genetic sequencing
- FBC only changes around 8y (low Hb, raised MCV, low WCC, low platelets)
- Bone marrow biopsy (hypocellular)

Management
- Transfusions
- Bone marrow transplant
- Others: granulocyte colony stimulating factor/granulocyte macrophage stimulating factor

Complications
- Myelgenous leukaemia
- MDS
- Solid tumours
- Pancytopenia

186
Q

What are some causes of microcytic anaemia?

A

Thalassaemia
Anaemia of chronic disease
Iron and copper deficiency
Lead poisoning
Sideroblastic anaemia

187
Q

What are some causes of normocytic anaemia?

A

CKD
Early IDA
Early anaemia of chronic disease
Aplastic anaemia
Malignancy (bone marrow infiltration; if colonic bleeding think IDA)
Haemorrhage
Haemolytic (sickle cell, hereditary spherocytosis, G6PD, pyruvate kinase deficiency)
Hypersplenism (increased breakdown)

188
Q

What are some causes of macrocytic anaemia?

A

Megaloblastic
- B12 deficiency
- Folate deficiency
- Fanconi anaemia
- Diamond-Blackfan anaemia

Normoblastic
- Hypothyroidism
- Drugs (MTX, AZT)
- Liver disease
- Alcohol misuse

189
Q

What is immune thrombocytopenic purpura?

A

Pathophysiology
- Antibodies form against platelets causing phagocytosis by spleen macrophages = thrombocytopenia

Presentation
- Healthy child without any concerning features apart from bruising or petechiae/purpura
- Can follow viral infection or vaccination or be ‘random’

Investigations
- FBC (low platelets, normal Hb, normal WCC)
- Bone marrow examination and platelet autoantibodies

Management
- Nothing, only treat if < 10 x 10^9
- Steroids, IVIg, TPO-RA-
- Emergency = platelet transfusion

190
Q

What are some complications of sickle cell disease?

A

Splenic sequestration crisis

Acute chest crisis and pulmonary HTN

Stroke/VTE

Gallstones

Priapism

Aplastic anaemia
- Especially on exposure to parvovirus B19

Septic arthritis, osteomyelitis, chronic ankle ulcers

Avascular necrosis

CKD

191
Q

Wha can you tell me about sickle cell disease? How does it present and how do you manage children with this condition?

A

Pathophysiology
- Autosomal recessive substitution of valine (GAG) for glutamic acid (GTG) on B chain C11!
- Causes formation of abnormal HbS (instead of HbA) that polymerises + sickles when exposed to low oxygen environments (deoxygenated HbS)
- Sickle-shaped RBCs get trapped in microvasculature resulting in ischaemia (can also affect circulation to bone, lungs and can block the spleen)
- There is also increased breakdown of abnormal RBCs (shortened lifespan)

Presentation (6 months of age if not detected on newborn blood spot)
- Dactylitis
- Anaemia (pallor, dyspnoea, fatigue)
- Poor weight gain and failure to thrive/delayed puberty
- Gallstones (due to RBC breakdown products)
- Jaundice
- Splenic sequestration crisis = hypotension + anaemia + splenomegaly + pain
- Stroke
- Acute chest syndrome (fever, respiratory symptoms and infiltrates seen on XR) + pulmonary HTN
- Hepatosplenomegaly
- Retinopathy/tubulointerstitial nephritis

Investigations
- Blood film (normocytic, sickle-cells visible, Howell Jolly bodies)
- FBC (low Hb, normal MCV)
- Bilirubin (raised unconjugated bilirubin)
- LDH (raised)
- Haptoglobin (low)
- Haemoglobin electrophoresis

Management
- Keep warm, well hydrated and up to date with vaccines (prevents sickle cell crises)
- Analgesia (PCM or NSAID)
- Hydroxycarbamide to stimulate HbF production
- Phenoxymethylpenicillin prophylaxis
- Splenectomy, bone marrow transplant, blood transfusions

  • Acute chest syndrome = ventilation + blood transfusions + antibiotics/antivirals + incentive spirometry
  • Splenic sequestration crisis = blood transfusion + fluid resuscitation // recurrent = splenectomy
  • Aplastic anaemia = supportive with blood transfusions
192
Q

Can you summarise iron deficiency anaemia for me?

A

Aetiology
- Malnutrition (too much cow’s milk, CMPA, just not eating enough)
- Increased utilisation
- Chronic blood loss

What other element is IDA associated with?
- ZINC deficiency

Presentation
- Systolic flow murmur
- Atrophic glossitis and angular stomatitis
- Spoon-shaped nails
- Fatigue, pallor, dizziness, palpitations, chest pain, dyspnoea, exercise intolerance, tachycardia, splenomegaly
- PICA!
- HEART failure

Blood film
- Microcytic, hypochromic RBC
- Low-normal reticulocytes

Bloods
- FBC (low Hb, low MCV)
- Iron studies (low ferritin, low serum iron, increased total iron binding capacity)
- Zinc protoporphyrin (raised)

Management (until normal Hb then for an additional 3-6m to replenish stores)
- Oral iron (ferrous sulphate) — take with juice
== Constipation, GI disturbance, dark stools
- IV iron

193
Q

How does anaemia present?

A

Fatigue, pallor, dizziness, palpitations, chest pain, dyspnoea, exercise intolerance, tachycardia, splenomegaly, headaches, loss of appetite

194
Q

What is B12 deficiency anaemia?

A

Causes (body has 4y store!)
- Plant-based diet
- Pernicious anaemia (attacks parietal cells = lack of intrinsic factor)
- Malabsorption (e.g., coeliac, IBD, bowel resection - ileocaecal as absorbed by terminal ileum)

Presentation (including those of anaemia)
- Peripheral neuropathy
- Depression
- Dementia
- Angular stomatitis and atrophic glossitis
- Ataxia due to DCML involvement

Blood film
- Macrocytic megaloblastic anaemia
- Hypersegmented polymorph neutrophils

Bloods
- FBC (low Hb, raised MCV)
- Serum B12 (low)

Management (if also folate deficient, correct B12 deficiency first)
- Hydroxocobalamin PO or IM (IM if malabsorption or pernicious anaemia)

Complications
- Subacute degeneration of the spinal cord (DCML, ankle jerk absent, Babinski +)
- Dementia
- Depression
- Peripheral neuropathy

195
Q

What is folate deficiency anaemia?

A

Basic physiology
- 4m stores and absorbed in duodenum and jejunum

Presentation
- Atrophic glossitis and angular stomatitis
- No CNS involvement

Blood film
- Hypersegmented polymorph neutrophils
- Macrocytic megaloblastic anaemia

Bloods
- FBC (low Hb, raised MCV)
- Serum folate (low)

Management
- Folate supplement + B12 supplement
- Give B12 alongside as folate with low B12 = worsened subacute degeneration of the spinal cord

196
Q

What element, that is not iron, is associated with IDA?

A

ZINC

197
Q

What is haemolytic disease of the newborn?

A

Pathophysiology
- Rh - mother has previously been sensitised to Rh + cells and has produced antibodies
- Antibodies cross the placenta and cause haemolysis of foetal haemoglobin

Presentation
- Severe anaemia
- Hepatosplenomegaly
- Foetal hydrops (abnormal accumulation of fluid in at least 2 compartments)

Management
- Anti-D immunisation
- Intrauterine transfusion of affected foetus

198
Q

What is alpha-thalassaemia?

A

Alpha thalassaemia
- Affects alpha globin 4 genes per cell on C16
- Carrier = 1 mutated gene, trait = 2 mutated genes // both are asymptomatic
- HbH disease = 3 mutated genes
- Bart’s hydrops = 4 mutated genes and not compatible with life

Presentation
- Normal skeletal appearance, only those of haemolysis
- Jaundice, splenomegaly, pallor, fatigue

Investigations
- FBC (low Hb, low MCV)
- Blood film (microcytic hypochromic cells, raised reticulocytes, target cells)
- PCR
- Iron studies (normal)
- LDH and bilirubin (raised)

Management
- Folic acid
- Rarely = transfusions

199
Q

What is thrombotic thrombocytopenic purpura?

A

Pathophysiology
- Antibodies form against ADAMST13 which normally degrades VWF
- Increased VWF clusters/multimers lead to platelet aggregation and microthrombus formation which blocks vessels
- Blocked vessels cause ischaemia + haemolysis while RBCs try to squeeze past each other

Presentation
- Thrombosis/infarction
- Purpura, bruising
- Fever
- Menorrhagia, confusion (fluctuating neurological signs)
- Haemolytic anaemia = jaundice, dyspnoea, fatigue

Investigations
- Blood film (schistocytes)
- FBC (low platelets, normal Hb, normal WCC)
- Bilirubin (raised)
- LDH (raised)

Management
- Plasma exchange
- Rituximab + methylprednisolone (immunosuppressant + corticosteroid)

200
Q

What is neonatal hypoglycaemia and what do we do?

A

Hypoglycaemia < 2.6 mmol/L

Transient hypoglycaemia in firsts hours is normal

Persistent hypoglycaemia
- Prematurity < 37 weeks
- Maternal DM
- IUGR
- Hypothermia
- Sepsis
- Inborn metabolic errors
- Beckwith-Wiedemann syndrome

Management
- Asymptomatic and glucose > 1.0 mmol/L = encourage feeding and monitor glucose
- Symptomatic or < 1.0 mmol/L = admit to neonatal unit and give 10% dextrose

201
Q

How would you manage umbilical hernias?

A

Normally self-resolves

Large or symptomatic = surgical repair (elective) at 2-3 years

Small < 1.5cm and asymptomatic = surgical repair (elective) at 4-5 years

Incarceration
- If reducible, reduce and repair within 24 hours
- Irreducible = emergency surgery

202
Q

How would you describe S2 in an ASD?

A

Fixed split S2
Indicator of RV overload

203
Q

What is the pathophysiology and management behind rheumatic fever?

A

Type 2 hypersensitivity reaction occurring after group A streptococcus infection
- 2 to 4 weeks post-tonsillitis

Diagnostic criteria
- 2 major
- 1 major + 2 minor

Investigations
- ASO
- Anti-DNAse B
- Throat swab
- CXR, ECG
- ESR/CRP

Management
- Benzylpenicillin STAT followed by phenoxymethylpenicillin
- Chorea: haloperidol or BDZ

204
Q

What do you see in the eyes of someone with trisomy 21?

A

Brushfield spots on iris

205
Q

What is infantile colic and how would you manage? Are there any complications?

A

Colic
- At least 3 hours a day 3 days a week for at least 1 week
- Typically occurs in late afternoon/evening
- Is episodic

Presentation
- Young infant < 6m of age
- Inconsolable and excessive crying BUT is otherwise fit, well and growing (distressed during colic, not between)
- Draws knees up into chest (no extension of UL unlike infantile spasms)
- Increased flatulence and bloating

Management
- Reassure parents and DO NOT recommend any treatments
- Encourage parents to get extra support from extended family, nursery nurse, etc.

Complications
- Parental distress
- NAI
- Delayed bonding
- Early cessation of breastfeeding

206
Q

What is toddler’s diarrhoea?

A

Diarrhoea containing visible undigested food in toddler who is otherwise fit, well and meeting all milestones

Due to increased motility of the gut = short transit time

207
Q

What is Hirschsprung’s disease?

A

Pathophysiology
- Lack of autonomic PSNS ganglia in the distal bowel due to failure of migration
- No Auerbach (myenteric) and Meissner’s (submucosal) plexi therefore no relaxation of colon = bowel obstruction

Associations
- Trisomy 21
- Waardenburg syndrome
- Neurofibromatosis

Presentation
- Delayed passage of meconium
- Constipation unresponsive to laxatives BUT relieved on PR examination
- Abdominal distension
- Bowel obstruction (vomiting, distension, constipation, abdominal pain)
- Lack of appetite and growth (due to lack of intake)
- HAEC: fever + bloody diarrhoea + distension + features of sepsis

Investigations
- Rectal biopsy is gold standard (absent ganglia, increased ACh-esterase on staining)
- AXR (proximal dilation with distal constriction)
- Contrast enema

Management (A-E resuscitation if necessary)
- Bowel irrigation + resection of aganglionic portion
- If Hirschsprung’s enterocolitis = MTZ + A-E resuscitation + surgical resection

208
Q

What is pyloric stenosis?

A

Pathophysiology
- Idiopathic hypertrophy and hyperplasia of pyloric smooth muscle
- M>F
- Firstborns

Presentation (first few weeks of life)
- Non-bilious projectile vomiting after every feed (including water)
- Hungry baby who wants to feed
- Signs of dehydration (lethargy, sunken fontanelle, dry mucous membranes, reduced CRT or skin turgor, constipation)
- Olive sized mass in RUQ/epigastrium and visible peristalsis
- Failure to thrive (as essentially no intake)

Investigations
- 1st line = test feed?
- USS
- ABG (metabolic alkalosis, low K+, low Cl-)

Management
- Correct electrolyte imbalance
- Ramstedt pyloromyotomy

209
Q

What is biliary atresia? How would an infant present and what are the relevant investigations/management?

A

Pathophysiology
- Idiopathic fibrosis and destruction of the intrahepatic and extrahepatic biliary tree causing outflow obstruction of bile

Epidemiology
- F > M
- Asian ethnicity

Presentation
- First few weeks of life
- Jaundice (obstructive)
- Pale stools and dark urine *abnormal in babies as their urine is normally clear
- Failure to thrive (normal birthweight but subsequent dropping of CE tiles)
- Bruising
- Hepatomegaly/splenomegaly

Investigations
- GS: ERCP
- USS (absent gallbladder, triangular cord sign)
- Bilirubin (raised conjugated bilirubin)
- LFTs (raised, especially GGT)
- FBC (low platelets and WCC)
- Liver biopsy (proliferation + mucous plug)

Management
- Hepatoportoenterostomy +/- ursodeoxycholic acid
- Liver transplant (most common indication for liver transplant in children)
- Nutrient supplements

210
Q

What is eosopahgeal atresia? How does it present?

A

Presentation
- Antenatal: polyhydramnios due to inability to swallow
- Drooling/choking/not feeding after birth
- If co-existing tracheo-oesophageal fistula = can present later with cyanosis/choking/cough during feeds

Investigations
- If detected antenatally = pass large bore feeding tube + XR to check position

Management
- Surgical correction
- Suction only relieves symptoms

Associations
- Trisomy 18 (Edward’s)
- VACTERL-H: vertebral defects, anorectal, cardiac, trachea-osophaeal, radial limb, renal
- CHARGE: colobama, heart defects, atresia choanae, reduced intellect, genital hypoplasia, ears

211
Q

How would you resuscitate neonates?

A

Neonatal use brachial pulse
- Dry and keep warm is normally sufficient
- Put head in neutral position
- 5 rescue breaths
- No improvement = 30s of ventilation
- Followed by 3:1 ratio of chest compressions to rescue breaths
- Two-thumb encircling method is best

212
Q

How would you resuscitate children?

A

Do NOT shake child/infant
- Check for signs of life for 10s (use brachial pulse in infants)

Airway: check if there are any obstructions, open airway via jaw thrust or head-tilt chin-lift

Breathing: check if breathing, give 5 rescue breaths before commencing CPR

Circulation: check for pulse, CPR in 15:2 ratio after the rescue breaths are given

CPR: 1 or 2 hands 4cm compressions // two fingers for neonates-

213
Q

How would you manage a choking situation?

A

Encourage coughing if airway is patient (effective cough)

If cough is no longer effective, alternate between
- Back blows and
- Abdominal thrusts/chest thrusts (< 1y)

214
Q

What is duodenal atresia?

A

Vomiting early in first 2 days of life
Double bubble sign on AXR
Associated with trisomy 21
Management is by surgical correction

215
Q

What can you tell me about diaphragmatic hernias?

A

Malformation of diaphragm causing herniation of abdominal contents into the thorax
- Mediastinal shift of the heart
- Bowel loops present on CXR and tinkling sounds heard on auscultation
- Bronchopulmonary hyperplasia (severely reduced lung capacity)
- ?polyhydramnios in utero

Commonly left-sided (liver ‘protects’ the right) Bochdalek hernia (85%)

Only 50% survive despite medical intervention

216
Q

What can you tell me about gastrochisis?

A

Not associated with other congenital abnormalities

Herniation of abdominal contents to the right of umbilicus (bowel only, no liver!)

Abdominal contents are not covered by sac
- Risk of dehydration

Management (normal delivery not CI)
- Wrap and reduce either surgically or using a silo
- NG feed + IV fluids

217
Q

What can you tell me about exomphalos?

A

A.k.a. ‘omphalocele’

Associated with many other congenital abnormalities

Abdominal contents protrude through umbilicus and is covered by sac (peritoneum + amniotic membrane)
- Can contain liver

Management
- Allow sac to epithelialise
- Gradual surgical reduction (need time to allow abdominal cavity to grow so it will be able to accommodate contents)

218
Q

What is necrotising enterocolitis? Who is most likely to get necrotising enterocolitis?

A

Necrotising enterocolitis
- Infection of the bowel wall secondary to ischaemic injury > necrosis > perforation > peritonitis > shock
- Can cause peritonitis

Risk factors
- Premature infants
- Bottle-fed (formula)
- Low birth-weight

Presentation
- Bloody diarrhoea
- Feed intolerance + vomiting (+/- bile stained)
- Distended abdomen with thin, shiny skin
- Fever + signs of sepsis (tachycardia, tachypnoea, hypotension)

Investigations
- AXR (dilated bowel loops, pneumatosis intestinalis present in intestinal wall; if severe = perforation causing pneumoperitoneum)

Management
- NBM + A-E resuscitation
- Broad spectrum antibiotics: IV metronidazole + gentamicin + ceftriaxone
- Surgical removal of necrotic bowel
- Supportive (e.g., ventilation)

219
Q

What are some diseases of prematurity? What are complications of premature birth?

A

Diseases of prematurity:
- Chronic lung disease secondary to bronchopulmonary dysplasia
- Retinopathy of prematurity
- Neonatal hypoglycaemia
- Necrotising enterocolitis
- Neonatal respiratory distress syndrome (surfactant deficiency!)
- Apnoeic spells (as they don’t ‘know’ how to breathe)
- Intraventricular haemorrhage
- Hypothermia

Complications of premature birth:
- Cerebral palsy
- Learning disability
- Seizures

220
Q

What is transient tachypnoea of the newborn?

A

Temporary increase in work of breathing of an otherwise healthy infant
- Occurs shortly after birth and lasts < 24 hours
- Increased risk if CS delivery

O2 saturations are normally within normal range

CXR shows hyper-inflated lungs with fluid in horizontal fissure

Manage is supportive (unless O2 saturations are low, then give O2)

221
Q

What is neonatal respiratory distress syndrome? Who is at risk of developing NRDS?

A

Surfactant helps reduce surface tension in alveoli allowing for easier expansion
- Produced by type 2 pneumocytes from about 28 weeks
- Lung collapse as difficult to expand = less gaseous exchange = hypoxia + hypercapnia = respiratory distress

Presentation
- Increased work of breathing
- Low oxygen saturations

CXR shows characteristic ‘ground glass appearance’

Management
- Antenatal: maternal dexamethasone
- Ventilation/O2 + surfactant delivered by ET tube to maintain saturations of 90-95%

Risk factors
- Premature delivery (especially without maternal corticosteroids) especially < 32 weeks
- Maternal diabetes (insulin inhibits production of surfactant)

Complications
- Pneumothorax
- IV haemorrhage
- NEC
- Apnoea
- Chronic lung disease of prematurity
- Retinopathy of prematurity

222
Q

What is bronchopulmonary dysplasia?

A

Bronchopulmonary dysplasia is the consequence of alveolar and bronchial damage from artificial ventilation

223
Q

What is meconium aspiration syndrome? How would you manage?

A

Inhalation of meconium causing chemical pneumonitis

Commoner in post-date infants and those who have been exposed to hypoxia/stress
- Chorioamnionitis
- Smoking
- Substance misuse

Presentation
- Meconium-stained liqueur
- Respiratory distress

Investigations
- CXR (patches of collapse and consolidation, hyperinflation)
- FBC, CRP, blood cultures

Management
- Antibiotics if respiratory distress (ampicillin + gentamicin)
- Oxygen supplementation if necessary
- If fine, observation is sufficient

224
Q

What is slipped upper capital femoral epiphysis? Who gets it and how would you treat?

A

Pathophysiology
- Displacement of proximal femoral epiphysis from metaphysis
- Direction = posterior inferior

Definitions
- Stable = can walk
- Unstable = unable to walk even with crutches, risk of osteonecrosis is 50%

Epidemiology
- 10-15 years
- M > F
- Raised BMI
- Can be post-trauma

Presentation
- Hip pain (acute or gradual onset depending on person)
- Reduced internal ROM and abduction
- Limp and leg shortening
- DREHMANN’s sign = in supine position, the passively flexed hip falls back into external rotation and abduction
- Acute onset might not weight-bear due to severity of pain
- Chronic: muscle wasting, Trendelenburg +

Investigations
- XR hip (wide epiphyseal line, displacement of femoral head)
- FBC, blood cultures, CRP

Management
- Immediate bed rest + analgesia
- Surgical fixation across growth plate

225
Q

What is osteomyelitis? How would you treat? Which organisms are responsible?

A
226
Q

What is septic arthritis and how do you manage septic arthritis? What is the Kocher criteria?

A

Presentation

Investigations

Management

Kocher Criteria
- Fever > 38.5
- Cannot weight bear
- WCC > 12
- ESR > 40 or CRP > 20

227
Q

What can you tell me about discoid meniscus?

A

Abnormally shaped lateral meniscus
- Meniscus cushions femur and tibia
- Oval/discoid rather than crescent shaped
- Thicker than ‘normal’ menisci

Normally asymptomatic but (pivoting injury) can cause
- Locking and ‘clicking’ sound when moving
- Pain, swelling and stiffness
- Feeling of ‘giving way’

Imaging of choice = MRI (bow tie sign, thick, flat meniscus)

Management
- 1st line: PT (stretching and strengthening exercises)
- Surgery if significant disability

228
Q

What can you tell me about systemic JIA?

A

Presentation
- Daily cyclical fevers + one of
= Pink ‘salmon’ rash
= Lymphadenopathy
= Hepatosplenomegaly
= Serositis
- Arthritis (symmetrical oligoarthritis)
- Malaise
- Weight loss

Investigations
- RF (-)
- ANA (+)
- ESR and CRP (raised)
- Ferritin (raised)
- FBC (low Hb, raised WCC and platelets)

Complications
- Macrophage activation syndrome (VERY high ferritin, low ESR) = DIC, anaemia, thrombocytopenia, non-blanching rash

229
Q

What can you tell me about polyarticular JIA?

A

Affects > 4 joints within the first 6 months of disease
- Stiffness, swelling, pain, warmth

Associated with chronic anterior uveitis

RF - is more common than RF + polyarticular JIA

RF - preschool and adolescents
- Symmetrical (more common) = small + large joints (especially fingers)
- Asymmetrical = C-spine and temporomandibular joint // risk of uveitis!

RF + affects adolescents
- Similar to adult RA
- Symmetrical and affects small + large joints (especially fingers)
- Low grade fever + rheumatoid nodules
- Hepatosplenomegaly, lymphadenopathy, serositis
- Uveitis is rare but dry eyes are common

230
Q

What can you tell me about oligoarticular JIA?

A

4 or fewer joints affected at 6 months of disease

ANA +, RF -

VERY likely to develop chronic anterior uveitis

Asymmetrical stiffness, swelling, warmth and pain

Commonly affects:
- Knee > ankle
- Wrist or elbows

231
Q

What is enthesitis JIA?

A

Similar to adult AS = HLA-B27 +, seronegative (ANA, RF -)

Risk of acute uveitis, psoriasis and IBD

Presentation
- Mainly lower limb
- Mid lumbar spine/sacroiliac joint involvement
- Enthesitis (plantar fasciitis)
- Tender at areas of tendon insertion

232
Q

What is psoriatic JIA?

A

JIA associated with psoriasis

ANA and RF -

Risk of chronic anterior uveitis

Small joint arthritis is symmetrical but if large joints are affected, it is asymmetrical

Associated: psoriasis, nail pitting, onycholysis, dactylitis

Diagnostic criteria
- Arthritis + psoriasis
OR
- Arthritis + 2 of 3 from: dactylitis, nail pitting/onycholysis, psoriasis in first degree relative

233
Q

How do we manage juvenile idiopathic arthritis?

A

Try your best to avoid prescribing steroids in childhood

1st line: NSAIDs
2nd line (or 1st line if multiple joint involvement or joint requiring at over 3 intra-articular doses of steroids): MTX or sulfasalazine [not in systemic JIA]
3rd: tocilizumab, etanercept, adalimumab, abatacept and other biologics/cytokine modulators

234
Q

How would coeliac disease present in children?

A

Pathophysiology
- Alpha-gliadin triggers an immune response in the proximal small intestine

Presentation (around the age of weaning)
- Distended abdomen
- Failure to thrive, irritable
- Gluteal wasting
- Abdominal pain and bloating
- Loose foul-smelling stools that float in the pan (steatorrhoea)
- Dermatitis herpetiformis
- Apthous ulcers
- Angular stomatitis + atrophic glossitis + pallor/dyspnoea/fatigue (anaemia)
- No blood or mucous in stools

Investigations
- IgA titres + IgA tissue-transglutaminase
- 2nd line = IgA anti-endomysial antibodies
- GS: duodenal biopsy (crypt hyperplasia, villus atrophy, lymphocyte infiltration)
- Faecal calprotectin (negative)

Management
- Gluten-free diet (avoid wheat, barley and rye too)

235
Q

What can you tell me about intestinal malrotation with volvulus?

A

Presentation (within first few days of life)
- Bilious vomiting + intestinal obstruction
- Abdominal distension
- Abdominal pain (irritable neonate)
- Constipation
- Low BP, raised HR
- High caecum at the midline

Investigations
- UGI contrast study
- USS

Management
- A-E resuscitation
- NBM + surgical correction (Ladd’s procedure)

236
Q

What is Meckel’s diverticulum? What is the ’Rule of 2s’? What are some common complications?

A

Remnant of omphalomesenteric (vitelline) duct that connected midgut to yolk sac
- Supplied by a terminal branch of superior mesenteric artery

Rule of 2s
- 2 years of age
- 2:1 M>F
- 2 inches long
- 2 types of ectopic tissue (gastric and pancreatic)
- 2 feet proximal to ileocaecal valve

Presentation
- Can be asymptomatic
- Rectal bleeding (so PR bleeding in younger age is more likely to be Meckel’s than IBD)
- Abdominal pain
- Vomiting

Investigations
- USS 1st line
- Technetium scan
- FBC (low Hb, raised lymphocytes with left shift)

Management
- Asymptomatic = watchful waiting
- Symptomatic = surgical excision

Complications
- Intussusception
- Volvulus/incarceration/strangulation
- Intestinal obstruction
- Diverticulitis
- Haemorrhage
- Umbilical cyst/sinus/fistula/fibrous cord
- Neoplastic change

237
Q

What is a choledocal cyst?

A

Pathophysiology
- Dilation of bile ducts causing outflow obstruction of bile
- F>M and more common in East Asia

Presentation
- Obstructive jaundice (pale stools, dark urine)
- Palpable abdominal mass
- Intermittent RUQ pain
- Others: hepatomegaly, bruising, ascites, gallstones (can cause pancreatitis)

Investigations
- GS: MRCP
- Bilirubin (conjugated hyperbilirubinaemia)
- LFTs (raised, cholestasis picture)
- USS 1st line

Management
- Surgical excision! (As increased risk of cholangiocarcinoma .-.)
- + biliary-enteric anastomosis

238
Q

What can you tell me about intussusception? What are the risk factors, investigations and management?

A

Pathophysiology
- Telescoping of bowel causing small bowel obstruction
- Mesentery is compressed = distension of wall and obstruction of lumen = disrupted peristalsis, pain and vomiting + ischaemia > gangrenous = perforation
- Commonly ileocaecal but can also be ileo-ileal, etc.

Risk factors whatever that enlarges lymph nodes
- Rotavirus vaccine
- HSP
- Polyp
- Peyer’s patch hyperplasia
- Meckel’s diverticulum
- Preceding infection (e.g., gastroenteritis or URTI)
- Lymphoma
- CF

Presentation (< 18 months old)
- Sudden-onset colicky abdominal pain + distressed (especially during spasms), unwell infant who is tired between episodes
- Red-currant jelly-like stools
- RUQ sausage-like mass
- Absent bowel in RLQ (Dance’s sign)
- Bilious vomiting
- Can have signs of shock (fever, low BP, raised HR and RR)

Investigations
- USS (target sign)

Management
- A-E resuscitation + NBM + IV fluids + analgesia
- 1st line = air enema
- 2nd line = H2O enema
- 3rd line = surgical intervention

239
Q

What is appendicitis?

A

Pathophysiology
- Inflammation of the appendix
- Faecolith or stool obstructs lumen = environment for bacteria to proliferate = infection and inflammation

Presentation (rare < 2y)
- Abdominal pain staring around the umbilicus before moving to RIF 2/3 way from umbilicus to right ASIS
- Nausea and vomiting
- Rovsing’s sign, rebound tenderness Blumberg’s, psoas sign
- Guarding
- Fever, anorexia, malaise
- Patient lies STILL (as they will be peritonitic and pain is worse with movement)
- Can have signs of shock (low BP, raised HR)

Investigations
- GS: USS abdomen (unlike adults where CT is preferred)
- FBC (raised WCC)
- CRP (raised)
- Blood cultures

Management
- NBM + surgical referral for appendectomy
- IV fluids + analgesia + antiemetic
- Antibiotics (MTZ + ceftriaxone/cefuroxime)

240
Q

What is Kawasaki’s disease? What are the diagnostic criteria? How do we manage Kawasaki’s disease?

A

Pathophysiology
- Idiopathic medium vessel vasculitis
- M > F and affects East Asians

Presentation (think of the mnemonic ‘crash and burn’)
- Fever > 5 days? Think Kawasaki
- Diagnosis requires fever + 4 of
- Bilateral non-exudative Conjunctivitis
- Rash affecting the whole body
- Adenopathy (cervical, unilateral!)
- Strawberry tongue (also = fissuring of lips, erythema of oral mucosa, etc.)
- Hands and feet (erythema, oedema, desquamation)

Investigations
- FBC (low Hb, raised platelets)
- ESR and CRP (raised)
- Echocardiogram (?coronary artery aneurysm)
- LFT (low albumin, raised liver enzymes)
- Dipstick (sterile pyuria)

Management
- High dose aspirin + IV immunoglobulins
- Long-term follow up echocardiograms to screen for coronary artery aneurysm

241
Q

What can you tell me about vesicoureteric reflux?

A
242
Q

What is the ADHD triad? How do we manage ADHD in children and how does this differ from adults?

A
243
Q

What is the ASD triad?

A
244
Q

What are some causes of neonatal jaundice? What investigations do we perform and when? Are there any treatments for neonatal jaundice?

A
245
Q

What is pharyngitis or tonsillitis? How do we treat these conditions?

A

‘Sore throat’

Commonly caused by viruses (EBV, adenovirus, rhinovirus, influenza and parainfluenza) or bacteria (s.pyogenes, s.pneumoniae, s.aureus, h.influenzae)

Investigations
- Rapid antigen testing
- Throat swab + culture/PCR if need to confirm GAS infection
- FBC + film (atypical lymphocytes if EBV)
- LFT (raised if EBV)
- Serum monospot test if suspecting EBV

Management
- If bacterial (centor 3 or FeverPAIN 4): phenoxymethylpenicillin
- If viral: supportive and safety net

245
Q

What are the scoring systems used to assess if tonsillitis is bacterial in origin?

A

CENTOR
- Purulent tonsils
- Fever
- Lymphadenopathy
- No cough

FeverPAIN
- Fever
- Purulent tonsils
- Attending within 72 hours
- Inflammed tonsils
- No coryza/cough

246
Q

What can you tell me about pneumonia in children? What antibiotics do we use?

A

Organisms
- Neonatal: group B streptococcus (agalactiae), staphylococcus aureus, Klebsiella, E.coli
- Pre-school: streptococcus pneumoniae
- School-aged: group A streptococcus, Klebsiella, Bordetella, haemophilus, staphylococcus aureus, s.pneumoniae mycoplasma pneumoniae

Presentation
- Young children do not produce sputum
- Cough, high fever (irritable, clingy, lethargic, poor feeding)
- Dyspnoea
- Can have abdominal pain
- Increased work of breathing (tracheal tug, intercostal/subcostal recessions, tachypnoea, head bobbing, nasal flaring, abnormal breathing sounds, cyanosis, accessory muscle use)
- Signs: tachypnoea, tachycardia, focal coarse crackles, bronchial breathing, dullness to percussion, increased vocal resonance, pleural rub

Management
- < 3 months = urgent referral to paediatrics for investigation/admission

Antibiotics (> 3 months)
- 1st line: amoxicillin
- 2nd line: co-amoxiclav
- If atypical add clarithromycin
- Penicillin allergy = clarithromycin/erythromycin (pregnancy)
- O2 if < 92%

247
Q

What is bronchiolitis?

A

LRTI commonly caused by RSV infection
- Most common in infants < 12 months due to small airways
- Hyponatraemia is a common complication

Presentation
- Winter months
- Coryzal prodrome + mild fever
- Increased work of breathing (tachypnoea, nasal flaring, head bobbing, intercostal/subcostal recessions, tracheal tug, accessory muscle use, cyanosis, apnoea, abnormal breathing sounds)
- Widespread wheeze and hyper-inflated chest
- Cough
- Decreased feeding, lethargy, clingy, irritable

Management
- Supportive (antipyretics + fluids)
- Oxygen if saturations are < 92%
- NO OTHER MEDICATIONS
- +/- suctioning if secretions are affecting feeding
- Prophylactic pavilizumab if high risk of severe bronchiolitis infection

248
Q

What is croup?

A

Laryngotracheobronchitis caused by parainfluenza infection or rarely, diphtheria
- Common in 1-3 year olds

Presentation (worse at night, worse on the 3rd night)
- Commoner in autumn months
- Barking cough
- Inspiratory stridor
- Hoarse voice
- Coryzal prodrome + mild fever
- +/- increased work of breathing (but child appears well vs acute epiglottitis)

Management
- Clinical diagnosis
- 1st line: PO dexamethasone
- 2nd line: IM dexamethasone or nebulised budesonide
- 3rd: nebulised adrenaline + O2 if severe or an emergency

When to admit?
- Anyone with moderate-severe croup needs admission
= Moderate: recessions + stridor at rest but normal alertness
= Severe: as moderate but with agitation/lethargy
- < 6 months old

249
Q

What is epiglottitis?

A

A medical emergency
- Do NOT aggravate the child as you risk them closing the airway!
- Caused by Haemophilus influenza B (now very rare due to vaccinations)

Presentation
- Very acute onset
- Drooling + tripod position + ill-looking child
- High fever
- Sore throat and dysphagia
- Barely breathing (no/soft stridor, no wheeze, no cough) as the airway is extremely narrow
- Muffled voice

Management
- Escalate to senior paediatrician and anaesthetist
- Secure airway then give IV ceftriaxone
- +/- dexamethasone

Investigations (NOT required)
- XR (thumb-print sign)
- Fibre-optic laryngoscopy

Complications
- Epiglottic abscess

250
Q

What is a viral-induced wheeze? How do we manage a viral wheeze?

A

Commonly caused by RSV or rhinovirus

Presentation (acute onset)
- < 5 years and well between episodes unlike asthma
- Widespread wheeze, dyspnoea and increased work of breathing on background of viral illness (cough, coryza, fever)
- Decreased feeding, lethargy, irritability, clingy

Investigations
- None

Management (like acute asthma without steroids)
- Salbutamol inhaler given with a spacer
- 2nd line: salbutamol + O2
- 3rd: nebulised salbutamol
- 4th: ?IV MgSO4, aminophylline
- 5th: intubation and ventilation

251
Q

What can you tell me about cystic fibrosis? What type of diet should they consume?

A

Pathophysiology

Presentation

Investigations

Management
- Diet: high calorie + high fat + enzyme supplements at every meal

Complications
- Infertility
- Recurrent chest infections causing bronchiectasis
- Respiratory failure

252
Q

What is acute otitis media? What do you see on otoscopy and how do we manage?

A

Infection and inflammation of the middle ear commonly caused by streptococcus pneumoniae or staphylococcus aureus

Risk factors
- URTI
- Supine feeding, dummy use
- Measles infection
- Parental smoking
- Attending nursery
- Cleft palate, trisomy 21, Turner syndrome
- Primary ciliary dyskinesia, immunosuppression

Presentation
- URTI: fever, irritability, malaise, coryza, sore throat
- Acutely painful ear (tugging ear)
- Conductive hearing loss
- Vertigo/dizziness if vestibular system involved
- +/- discharge
- Crying, vomiting, poor feeding
- Otoscopy: red, bulging tympanic membrane with effusion behind tympanic membrane

Managment
- Supportive
- If < 18 years can give anaesthetic + analgesic drops
- Antibiotics only if perforation or systemically unwell or < 2 years and bilateral AOM: PO flucloxacillin or co-amoxiclav

253
Q

What is otitis media with effusions?

A

Risk factors
- Trisomy 21
- CF
- Primary ciliary dyskinesia

Presentation
- Problems with balance
- Conductive deafness
- Ear fullness
- Otoscopy: dull, retracted tympanic membrane with visible fluid-level

Investigations
- Audiometry
- Tympanometry

Management
- 3 month watchful waiting + valsalva manoeuvre
- Grommets or myringotomy
- Hearing aids

254
Q

What can you tell me about a cholesteatoma?

A

Pathophysiology
- Abnormal collection of keratinised squamous cell epithelial cells in middle ear
- Very locally invasive (intracranial abscess, CN7 palsy, sensorineural hearing loss)

Presentation
- Foul smelling discharge
- Unilateral conductive hearing loss (if not yet invaded nerves)
- Pain
- Vertigo
- CN7 palsy

Investigations
- Otoscopy: deep retraction pocket with white debri in upper tympanic membrane
- MRI

Management
- ENT referral for surgical excision
- Semi-urgent referral unless neurological symptoms are present

255
Q

What is otitis externa? Which organisms normally cause otitis externa?

A

Causative organism: pseudomonas aeruginosa or staphylococcus aureus

Malignant OE = infection causing osteomyelitis of temporal bone + adjacent structures (ENT urgently + IV antibiotics)

Presentation
- Acutely painful ear canal and pinna
- Fever
- Discharge + itching
- Erythematous tympanic membrane

Management
- No swimming for 7-10 days
- Mild: acetic acid drops
- Moderate-severe: antibiotic (cirprofloxacin, gentamicin) + steroid (betamethasone, dexamethasone, hydrocortisone)
- Severe: PO flucloxacillin or clarithromycin

256
Q

What can you tell me about the NIPE?

A

Eyes
- Checks for congenital cataract and retinoblastoma
- Checks that there are 2 eyes
- Congenital cataract = absent red reflex
- Retinoblastoma = white reflex
- Abnormality at birth = seen within 2 weeks
- Abnormality at 6-8 week check = seen by 11 weeks old

Heart
- Listening for murmurs
- Palpate brachial and femoral pulses
- Abnormality = seen before discharge home

Hips
- Barlow and Otolani’s tests
- Abnormality at birth = seen by orthopaedics by 6 weeks
- Abnormality at 6-8 weeks = seen by 10 weeks

Who else gets USS hip?
- FHx early childhood hip problems
- Breech at delivery from 28 weeks
- Breech from 36 weeks no matter presentation at delivery
- Twin (or more) pregnancy where at least one meets the breech criteria as above

Testes
- Checks for hyposphadias
- Bilateral = urgent paediatric review
- Unilateral = review at 6-8w check, if still undescended = re-check at 4-5 months and if still undescended = urgent urology referral

257
Q

How do we test the hearing of infants/children?

A

Newborn: autoacoustic emissions test
- If unsure or suspecting hearing impairment = proceed to brainstem auditory stimulation test

School-age: pure-tone audiometry when entering school

258
Q

When to suspect sepsis in older children/adolescents?

A

> 12 years have the same vital ranges as adults

A high fever that does not respond to antipyretics generally indicates bacterial infection

259
Q

How do you manage Kawasaki’s disease?

A

High dose aspirin + IV immunoglobulins

NOT steroids

260
Q

What are some features of hypernatraemic dehydration?

A

Jittery movements
Hypertonia
Hyperreflexia
Seizures
Drowsiness/coma

261
Q

When do you refer a baby who is struggling to breastfeed?

A

Refer to midwife-led breastfeeding clinic if > 10% birthweight is lost within first week of life

262
Q

What is a reflex anoxic seizure?

A

Seizure occurring after pain/discomfort
- Increased vagal response triggers cardiac asystole

Child becomes pale and falls to the ground
Associated with tonic colonic movements but with rapid recovery

263
Q

What is a breath holding spell?

A

Child is upset - crying/screaming and holds breath in expiration
Goes blue, apnoeic and falls to the ground (requires breath to be held for some time)

264
Q

What are some AD inherited conditions?

A

Achondroplasia
Huntington’s
Ehlers-Danlos
Noonan syndrome
Neurofibromatosis
Tuberous sclerosis
Marfan’s
OI

265
Q

What are some AR inherited conditions?

A

Thalassaemia
Sickle cell
Friedreich’s ataxia
CF
Congenital adrenal hyperplasia
Galactosaemia
Haemachromatosis
Oculocutaneous albinism
Tay-Sachs

266
Q

What are some X-linked recessive conditions?

A

Haemophilia
Fragile X syndrome
Duchenne’s
G6PD deficiency
Red-green colour blindness

267
Q

When do you get a morbilliform rash?

A

EBV infection taking amoxicillin

Presents as a generalised maculopapular rash

268
Q

What is an important differential for croup?

A

Bacterial tracheitis- does not improve with croup treatment

Caused by staphylococcus aureus

Phase 3a (4 decks)

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