Paediatrics

Question 1

PERTUSSIS

What is pertussis?

Answer 1

• Bronchitis caused by gram negative Bordetella pertussis bacteria

Question 2

PERTUSSIS

What is the clinical presentation of pertussis?

Answer 2

• Week of coryzal symptoms
• Coughing bouts often worse at night or after feeding which can > vomiting, epistaxis, subconjunctival haemorrhage
• Inspiratory whoops due to forced inspiration against a closed glottis
• Infants may have apnoea, not whoop

Question 3

PERTUSSIS
What are the investigations for pertussis?
What are some complications with pertussis?

Answer 3

• Nasopharyngeal swab with bacterial culture or PCR
• Marked lymphocytosis on blood film
• Pneumonia, seizures, bronchiectasis

Question 4

PERTUSSIS
How can pertussis be prevented?
What is the management of pertussis?
Is school exclusion required?

Answer 4

• Prophylaxis = vaccine (2/3/4m, 3–4y) + pregnant women (16–32w)
• Notify PHE
• 1st line = PO macrolides if onset <21d as well as close contact prophylaxis
• School exclusion for 48h following Abx or 21d from onset if no Abx

Question 5

CROUP
What is croup?
What is the epidemiology?

Answer 5

• URTI mainly 2º to parainfluenza viruses

- Children 6m–3y, commonly in Autumn

Question 6

CROUP

What is the clinical presentation of croup?

Answer 6

• Low grade fever + coryzal symptoms
• Barking cough which is worse at night
• Stridor > if audible at rest = admit (adverse sign)

Question 7

CROUP
What are the investigations for croup?
How do you assess croup severity?

Answer 7

• Clinical but if PA CXR = subglottic narrowing (steeple sign)
• Westley score (chest wall retractions, stridor, cyanosis, air entry)

Question 8

CROUP

What is the management of croup?

Answer 8

• PO dexamethasone 0.15mg/kg 1st line, can repeat at 12h

- High flow oxygen + nebulised adrenaline (more severe cases)

Question 9

LARYNGOMALACIA
What is laryngomalacia?
Key finding?
Management?

Answer 9

• Congenital (floppy) abnormality of larynx presenting with stridor
• Bronchoscopy = omega epiglottis
• Resolves as matures

Question 10

BRONCHIOLITIS
What is bronchiolitis?
What is the epidemiology?
What are some risk factors?

Answer 10

• Inflammation of bronchioles classically 2º to RSV (also adenoviruses)
• Majority <1y in winter
• Prematurity, CHD + CF

Question 11

BRONCHIOLITIS

What is the clinical presentation of bronchiolitis?

Answer 11

• Initial coryzal symptoms and mild fever
• Dry cough
• SOB (especially when feeding > difficulties)

Question 12

BRONCHIOLITIS

What are some signs of respiratory distress seen in bronchiolitis?

Answer 12

• Intercostal + subcostal recessions and sternal retraction
• Nasal flaring
• Tracheal tug + head bobbing
• Apnoea and grunting = bad signs
• Auscultation = wheeze, fine inspiratory crackles

Question 13

BRONCHIOLITIS
What is an investigations for bronchiolitis?
When would a child require emergency admission for bronchiolitis?

Answer 13

• Immunofluorescence of NP secretions = RSV

- Apnoea, RR>70, grunting, marked chest recession, cyanosis, SpO2 <92%, consider if inadequate PO intake and dehydrated

Question 14

BRONCHIOLITIS

What is the inpatient management of bronchiolitis?

Answer 14

• Saline nasal drops
• Small feed (NG 1st line or IV if cannot tolerate)
• Humidified oxygen via nasal cannula
• Suction if excessive secretions

Question 15

BRONCHIOLITIS
What can be given as prevention against bronchiolitis?
Who would be given this?

Answer 15

• Monoclonal Ab to RSV = palivizumab as monthly IM to reduce admission
• High-risk infants (preterm, CHD, CF)

Question 16

VIRAL INDUCED WHEEZE
What are the two types of viral induced wheeze?
Is there increased risk of asthma?

Answer 16

• Episodic viral = only wheezes when viral URTI + Sx free inbetween
• Multiple trigger = as well as viral URTIs, other triggers (exercise, smoke) > some develop asthma

Question 17

VIRAL INDUCED WHEEZE
What is the management of episodic viral induced wheeze?
What is the management of multiple trigger wheeze?

Answer 17

• 1st line = salbutamol PRN with spacer
• 2nd line = Montelukast or ICS or both
• Multiple trigger = trial ICS or Montelukast for 4–8w

Question 18

KARTAGENER SYNDROME

What is Kartagener syndrome (primary ciliary dyskinesia)?

Answer 18

• AR congenital abnormality leading to immotile cilia

Question 19

KARTAGENER SYNDROME

What is the clinical presentation of Kartagener syndrome?

Answer 19

• Recurrent sinusitis, dextrocardia or situs invertus + bronchiectasis
• Reduced sperm motility + defective tubal cilia > infertility

Question 20

CYSTIC FIBROSIS

What is cystic fibrosis?

Answer 20

• Mutation in gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) on chromosome 7 which is a cAMP dependent Cl- channel

Question 21

CYSTIC FIBROSIS

What is the pathophysiology of cystic fibrosis?

Answer 21

• Increased sodium absorption and abnormal chloride secretion in the epithelial cells lining the airway > increased viscosity secretions impairing cilia function

Question 22

CYSTIC FIBROSIS

What is the aetiology and epidemiology of cystic fibrosis?

Answer 22

• Autosomal recessive condition
• Most common mutation is deltaF508 deletion, more commonly in caucasians
• 1 in 25 carriers + 1 in 2500 have CF

Question 23

CYSTIC FIBROSIS

How does cystic fibrosis present in neonates and children?

Answer 23

• Meconium ileus + prolonged neonatal jaundice
• Malabsorption = failure to thrive (short stature), steatorrhoea
• Rectal prolapse, nasal polyps

Question 24

CYSTIC FIBROSIS
How does cystic fibrosis present in older children or adults?
What are some signs on examination?

Answer 24

• Diabetes mellitus 2º pancreatic insufficiency, liver cirrhosis
• Finger clubbing, coarse inspiratory crepitations ±expiratory wheeze

Question 25

CYSTIC FIBROSIS | What are some complications of cystic fibrosis?

Answer 25

- Recurrent chest infections > bronchiectasis - Cholesterol gallstones - Infertility (absent vas deferens in males)

Question 26

CYSTIC FIBROSIS What are some typical causes of respiratory tract infections in cystic fibrosis? Which organism in particular is significant?

Answer 26

- S. aureus, H. influenzae, Pseudomonas aeruginosa | - Burkholderia cepacia associated with increased morbidity + mortality

Question 27

CYSTIC FIBROSIS | What is the gold standard investigation for cystic fibrosis?

Answer 27

- Sweat test | - Cl >60mmol/L diagnostic as normal 1–30mmol/L

Question 28

CYSTIC FIBROSIS | What are some investigations for cystic fibrosis?

Answer 28

- Guthrie test = raised immunoreactive trypsinogen - Low faecal elastase = pancreatic insufficiency - Genetic testing for CFTR gene during pregnancy with amniocentesis or CVS

Question 29

CYSTIC FIBROSIS | What is the general management of cystic fibrosis?

Answer 29

- MDT management - Avoid other CF patients as risk of transmitting infections - CFTR modulators e.g., Kaftrio + Orkambi (brands), ivacaftor (drug)

Question 30

CYSTIC FIBROSIS | What is the respiratory management of cystic fibrosis?

Answer 30

- Chest physio ≥BD for airway clearance - Nebulised DNase + hypertonic saline to decrease sputum viscosity - Lung transplantation > Burkholderia cepacia is C/I

Question 31

CYSTIC FIBROSIS | What is the GI management of cystic fibrosis?

Answer 31

- High calorie, high fat diet - Vitamin supplementation ADEK - Pancreatic enzyme replacement (Creon)

Question 32

FEBRILE CHILD What system is used to assess a febrile child? What are the main components?

Answer 32

- NICE traffic light system for <5 - Colour (skin, lips, tongue) - Activity - Respiratory - Circulation + hydration - Other

Question 33

FEBRILE CHILD In terms of the NICE traffic light system, what is considered red for... i) colour? ii) activity? iii) respiratory? iv) circulation and hydration? v) other?

Answer 33

i) Mottled skin ii) No response to cues, doesn't wake if roused, weak, high-pitched or constant cry iii) Grunting, RR>60, mod-severe chest indrawing iv) Reduced skin turgor, no urine output v) <3m temp ≥38, non-blanching rash, bulging fontanelle, neck stiffness, status, focal seizures/neuro

Question 34

FEBRILE CHILD What is the management of a green score? Amber score? Red score?

Answer 34

- Manage at home with safety netting - F2F assessment with doctor to further investigate - Urgent admission for specialist assessment (999)

Question 35

CHICKENPOX What is chickenpox? What are some risk factors?

Answer 35

- Primary infection by Varicella zoster virus | - Immunocompromised, steroids, neonates, older age

Question 36

CHICKENPOX | What is the clinical presentation of chickenpox?

Answer 36

- Prodromal high fever and mildly systemically unwell | - Itchy, vesicular rash on head + trunk > peripheries

Question 37

CHICKENPOX | What are some complications of chickenpox?

Answer 37

- Secondary bacterial infection - Shingles (older children) - Ramsay Hunt syndrome - Risk to immunocompromised + neonates - Rarer = pneumonia, encephalitis

Question 38

CHICKENPOX What increases the risk of secondary bacterial infection in chickenpox? How does it present?

Answer 38

- NSAIDs | - Single lesion, cellulitis or small risk group A strep > necrotising fasciitis

Question 39

CHICKENPOX What is shingles? How does it present? Management?

Answer 39

- Reactivation of dormant virus > herpes zoster virus (shingles) in dorsal root ganglia - Characteristic rash in dermatomal distribution, acute, unilateral, blistering painful rash - Rx with PO aciclovir

Question 40

CHICKENPOX | How do you manage chickenpox exposure to those who are immunocompromised or neonates with no varicella antibodies?

Answer 40

- Human varicella zoster immunoglobulin (VZIG)

Question 41

CHICKENPOX What is the management of chickenpox? Is school exclusion required?

Answer 41

- Camomile lotion to stop itching - Trim nails - School exclusion until all lesions crusted over (usually 5d after rash)

Question 42

KAWASAKI DISEASE What is Kawasaki disease? What is the epidemiology?

Answer 42

- Medium-sized vessel systemic vasculitis, | - More common in children of Japanese or Afro-Caribbean ethnicity, 6m–5y

Question 43

KAWASAKI DISEASE | What is the diagnostic criteria for Kawasaki disease?

Answer 43

Fever + 4 (MyHEART) – - Mucosal involvement (red/dry cracked lips, strawberry tongue) - Hands + feet (erythema then desquamation) - Eyes (bilateral conjunctival injection) - lymphAdenopathy (cervical, often unilateral) - Rash (polymorphic) - Temp >39 for >5d

Question 44

KAWASAKI DISEASE What are some investigations for Kawasaki disease? Complication?

Answer 44

- FBC (raised WCC, platelets), raised ESR + CRP | - Echocardiogram with close follow up (6w) to rule out key complication of coronary artery aneurysm

Question 45

KAWASAKI DISEASE | What is the management of Kawasaki disease?

Answer 45

- Prompt IVIg to reduce risk of aneurysm | - Aspirin to reduce risk of thrombosis

Question 46

KAWASAKI DISEASE | Why is the management of Kawasaki disease unique?

Answer 46

- Aspirin normally contraindicated in children due to risk of Reye's syndrome (swelling of the liver + brain)

Question 47

MEASLES What is measles? What is the clinical presentation of measles?

Answer 47

- Infection with measles paramyxovirus via droplets - Prodromal Sx for 3–5d (CCCK) – Cough, Coryza, Conjunctivitis, Koplik spots - Maculopapular rash starts behind ears > rest of body - Fever

Question 48

MEASLES What are Koplik spots? What are the investigations for measles?

Answer 48

- White spots on buccal mucosa = pathognomonic | - Clinical Dx with serological (blood or saliva) testing for epidemiology

Question 49

MEASLES | What are some important complications of measles?

Answer 49

- Otitis media (commonest complication) - Pneumonia (commonest cause of death) - Encephalitis or rarer subacute sclerosing panencephalitis 5–10y later

Question 50

MEASLES | What is the prophylactic management of measles?

Answer 50

- MMR vaccine | - If unvaccinated child in contact = MMR within 72h as antibodies develop more rapidly than in natural infection

Question 51

MEASLES What is the management of measles? Is school exclusion required?

Answer 51

- Notifiable disease - Viral illness so supportive - School exclusion for 4d from rash onset

Question 52

RUBELLA | What is the clinical presentation of rubella?

Answer 52

- Mild prodrome = low-grade fever, coryza seen in winter + spring - Pink maculopapular rash starts on face then spreads to body - Suboccipital + postauricular lymphadenopathy

Question 53

RUBELLA What is the main complication of rubella with pregnant women? How is this managed?

Answer 53

- Congenital rubella syndrome = cataracts, CHD + sensorineural deafness - Avoid pregnant women, school exclusion 4d from rash, ensure vaccinated

Question 54

RUBELLA | What are some complications of rubella?

Answer 54

- Encephalitis - Arthritis - Myocarditis - Thrombocytopenia

Question 55

MUMPS What is mumps and the epidemiology? What is the clinical presentation?

Answer 55

- RNA paramyxovirus, occurs in winter + spring - Fever + parotitis (unilateral > bilateral, usually earache and pain on eating) - May have hearing loss but usually unilateral + transient

Question 56

MUMPS | What are some complications of mumps?

Answer 56

- Viral meningitis + encephalitis - Pancreatitis - Orchitis = unilateral, post-pubertal, can reduce sperm count > infertility

Question 57

MUMPS | What is the management of mumps?

Answer 57

- Notifiable disease - Prophylaxis via vaccine - Supportive management - School exclusion for 5d of onset of parotid swelling

Question 58

HAND, FOOT + MOUTH What is hand, foot and mouth disease caused by? How does it present? How is it managed?

Answer 58

- Coxsackie A16 virus - Mild viral URTI (sore throat, cough, fever) then painful red vesicular lesions on hands, feet, mouth + often buttocks too - Supportive, only exclude from school if unwell

Question 59

GLANDULAR FEVER What is glandular fever/infectious mononucleosis caused by? What is the clinical presentation?

Answer 59

- EBV | - Triad of severe sore throat, lymphadenopathy (cervical) + pyrexia, may have palatal petechiae

Question 60

GLANDULAR FEVER | What investigations would you do in glandular fever and what might they show?

Answer 60

- FBC (lymphoytosis with ≥10% atypical) - LFTs = transient ALT rise - Positive monospot test with heterophile antibodies

Question 61

GLANDULAR FEVER | What are the complications of glandular fever?

Answer 61

- Splenomegaly > splenic rupture - Haemolytic anaemia (cold agglutins IgM) - EBV associated with Burkitt's lymphoma

Question 62

GLANDULAR FEVER | What is the management of glandular fever?

Answer 62

- Supportive management - Avoid contact sports for 4w to reduce risk of splenic rupture - Avoid amoxicillin as can cause pruritic maculopapular rash

Question 63

SCARLET FEVER What is scarlet fever? What are some complications?

Answer 63

- Reaction to toxins produced by group A haemolytic strep pyogenes - Otitis media common, post-strep glomerulonephritis and rheumatic fever if untreated

Question 64

SCARLET FEVER | What is the clinical presentation of scarlet fever?

Answer 64

- Fever, sore throat ± exudate, headache - Red-pink rash that is 'pinhead' with rough, sandpaper texture - Strawberry tongue

Question 65

SCARLET FEVER What is the management of scarlet fever? Is school exclusion required?

Answer 65

- Notifiable disease - Phenoxymethylpenicillin for 10d to prevent rheumatic fever - Supportive + school exclusion until 24h after Abx

Question 66

ROSEOLA INFANTUM What causes roseola infantum? What is the clinical presentation? Key complication?

Answer 66

- Human herpes virus 6 - High fever lasting few days then settles leaving lace-like red rash across body - Common cause of febrile convulsions

Question 67

ERYTHEMA INFECTIOSUM What causes erythema infectiosum? What is the clinical presentation?

Answer 67

- Parvovirus B19 - Fever + rose-red rash across both cheeks, may progress to body - Rash may still appear for some months after a warm bath, sunlight or heat

Question 68

ERYTHEMA INFECTIOSUM | What is a significant complication of erythema infectiosum that might be seen in paeds?

Answer 68

- Aplastic crisis as it infects red cell precursors in bone marrow - More common in children with haemolytic anaemias like sickle cell, thalassaemia or immunocompromised

Question 69

STAPH SCALDED SKIN What is staphylococcal scalded skin syndrome (SSSS)? What is the management?

Answer 69

- Severe desquamating rash affecting infants due to exotoxins from Staph. Aureus - IV Abx (flucloxacillin) + supportive

Question 70

STAPH SCALDED SKIN | What is the clinical presentation of SSSS?

Answer 70

- Superficial fluid-filled blisters + erythroderma - Desquamation + Nikolsky sign +ve = gentle rubbing causes skin to peel - Systemically unwell, often oral mucosa unaffected

Question 71

TOXIC SHOCK SYNDROME What is toxic shock syndrome? What is a key risk factor? What is the management?

Answer 71

- Severe systemic reaction to S. aureus exotoxins - Tampon use - Remove infection focus, IV Abx + IV fluids

Question 72

TOXIC SHOCK SYNDROME | What is the clinical presentation of toxic shock syndrome?

Answer 72

- Fever ≥39 - Hypotension (shock) - Diffuse erythematous rash - Desquamation of rash (esp. palms + soles) - Multi-organ dysfunction

Question 73

VACCINATIONS | What are the two types of immunity?

Answer 73

- Active = give them part of pathogen either non-living or live attenuated - Passive immunity = give them antibodies to the pathogen (natural = placental transfer, artificial = human IgG)

Question 74

VACCINATIONS What are some live attenuated vaccines? What advice is given?

Answer 74

- MMR, BCG, nasal flu, rotavirus, Men B | - Can give fever = advise normal + paracetamol

Question 75

VACCINATIONS What vaccines are given at... i) 2m? ii) 3m? iii) 4m?

Answer 75

i) 6-in-one (diphtheria, tetanus, pertussis = DTaP, polio = IPV, HiB + Hep B), Men B + rotavirus ii) 6-in-one, rotavirus + PCV iii) 6-in-one, men B

Question 76

``` VACCINATIONS What vaccines are given at... i) 1y? ii) 3y + 4m? iii) 12-13y? iv) 14y? ```

Answer 76

i) Men B, PCV, Hib/Men C + MMR ii) MMR, 4-in-one preschool booster = DTaP + IPV iii) HPV iv) 3-in-1 teenage booster = tetanus, diphtheria + IPV, men ACWY

Question 77

VACCINATIONS | What extra vaccines may be considered?

Answer 77

- Babies born to mothers with hepatitis B = hep B at birth, 1m, 2m, 3m, 4m, 1y - Neonates at TB risk = BCG

Question 78

COMMON BIRTHMARKS | What is a salmon patch?

Answer 78

- Pink vascular birthmark on forehead, eyelid + neck | - Fade over months

Question 79

COMMON BIRTHMARKS What is a cavernous haemangioma? When do they present? Management?

Answer 79

- Strawberry naevus = raised red marks on face, scalp + back - NOT present at birth but develop in first month - Treatment if visual field obstruction

Question 80

COMMON BIRTHMARKS What is a capillary haemangioma? Management?

Answer 80

- 'Port wine stain' = present at birth + may darken and grow, permanent - Cosmetic camouflage or laser therapy

Question 81

COMMON BIRTHMARKS What is a slate grey naevi? What is crucial with this?

Answer 81

- 'Mongolian blue spot' = commonly lower back/buttocks, more common in non-Caucasian - Looks like bruising so DDx of NAI = important to document

Question 82

NAPPY RASH | What are the 2 main types of nappy rash?

Answer 82

- Irritant dermatitis = #1, irritant effect of urine + faeces, spares skin creases - Candida dermatitis = erythematous rash with involvement of flexures + characteristic satellite lesions

Question 83

NAPPY RASH | What is the management of nappy rash?

Answer 83

- Apply barrier cream (e.g., Zinc) - Expose napkin area to air when possible - Mild steroid cream (1% hydrocortisone) if severe - Topical imidazole if candida

Question 84

STEVEN-JOHNSON What is Steven-Johnson syndrome? What is a subtype?

Answer 84

- Severe systemic reaction affecting skin + mucosa almost always 2º to drug reaction - Toxic epidermal necrolysis if affects >10% body surface

Question 85

STEVEN-JOHNSON | What are some potential causes of Steven-Johnson syndrome?

Answer 85

- Meds = penicillin, sulphonamides, AEDs (lamotrigine, carbamazepine, phenytoin), allopurinol, NSAIDs

Question 86

STEVEN-JOHNSON What is the clinical presentation of Steven-Johnson syndrome? Where does it affect?

Answer 86

- Maculopapular rash with target lesions > may develop vesicles or bullae - Mucosal involvement of rash with systemic symptoms = fever, arthralgia - Nikolsky sign +ve

Question 87

STEVEN-JOHNSON | What are some complications of Steven-Johnson syndrome?

Answer 87

- Secondary infection - Permanent skin damage > volume loss + deranged electrolytes - Visual complications such as severe scarring or even blindness

Question 88

STEVEN-JOHNSON | What is the management of Steven-Johnson syndrome

Answer 88

- Admission as medical emergency - Stop causative medication - Skin + eye care with ophthalmology - Immunosuppressants

Question 89

PAEDS FLUIDS What is used for maintenance fluids? How are they calculated?

Answer 89

- 0.9% NaCl + 5% dextrose + KCl 10mmol - 100ml/kg/day for first 10kg - 50ml/kg/day for next 10kg - 20ml/kg/day for every kg after 20kg

Question 90

PAEDS FLUIDS What are some clinical signs of dehydration? How do you calculate fluids to correct dehydration?

Answer 90

- 5-10% = sunken eyes, reduced skin turgor, dry mucous membranes - >10% = reduced GCS, mottled peripheries, anuria, CRT >2s, hypotension - % dehydration x 10 x weight (kg)

Question 91

PAEDS FLUIDS When are fluid boluses given? What is the general rule? How many should you give?

Answer 91

- Given in shock - 0.9% NaCl at 20ml/kg over <10m - After >3 boluses call for paeds intensive care support

Question 92

PAEDS FLUIDS What are exceptions to the fluid bolus in shock rule? What is advised?

Answer 92

- Trauma, primary cardiac pathology (heart failure), DKA (after first 20ml/kg) - 10ml/kg boluses to prevent pulmonary oedema

Question 93

PAEDS FLUIDS What fluids do neonates require? What are their intake requirements?

Answer 93

- Day 1 = just 10% dextrose - From day 2 = Na (3mmol/kg/day) + K (2mmol/kg/day) - Day 1 = 60ml/kg/day - Day 2 = 90ml/kg/day - Day 3 = 120ml/kg/day - Day 4 + beyond = 150ml/kg/day

Question 94

PAEDIATRIC LIFE SUPPORT What is the first step of neonatal resuscitation? How does it differ if the baby is <28w?

Answer 94

- Warm + dry baby ASAP by vigorous drying (may stimulate breathing) - Heat lamp - Plastic bag while still wet + manage under heat lamp

Question 95

PAEDIATRIC LIFE SUPPORT What should be calculated whilst neonatal resuscitation occurs? What is the next stage?

Answer 95

- APGAR at 1, 5 + 10m - Stimulate breathing with vigorous drying - Place baby's head in neutral position to keep airway open

Question 96

PAEDIATRIC LIFE SUPPORT If breathing stimulation fails what is the next stage of neonatal resuscitation? What if this fails?

Answer 96

Inflation breaths if gasping or not breathing – - 2 cycles of 5 inflation breaths - No response + HR low = 30s of ventilation breaths - No response, HR <60bpm = chest compressions (3:1 with ventilation breaths)

Question 97

PAEDIATRIC LIFE SUPPORT It appears that a child is not breathing after assessing DR AB. What is your next step and explain how this would differ depending on the child's age?

Answer 97

- 5 rescue breaths - Infants = neutral position, cover mouth + nose with whole mouth - >1y = head tilt chin lift, pinch soft part of nose + seal mouth

Question 98

PAEDIATRIC LIFE SUPPORT You have performed your 5 rescue breaths but there was no coughing or response to your efforts What should be done next?

Answer 98

- Check circulation via femoral pulse | - If pulse felt = continue rescue breathing until child takes over

Question 99

PAEDIATRIC LIFE SUPPORT You do not feel a pulse. What should you do now?

Answer 99

- Chest compressions 15:2 rescue breaths - Depress sternum by one-third depth of chest - Infant = two fingertips/encircle with thumbs, >1y = heel of 1 hand, larger = 2 hands interlocked

Question 100

PAEDIATRIC LIFE SUPPORT You are at a restaurant and notice a situation at the table next to you and offer support. A child appears to be choking. How would you manage this?

Answer 100

- Encourage cough - Conscious = 5 back blows, 5 thrusts - Unconscious = open airway, 5 breaths, CPR

Question 101

PAEDIATRIC LIFE SUPPORT | How do the choking techniques differ for age?

Answer 101

- Chest thrusts for infant, abdominal if >1y | - Infants head down prone for back blows, supine for thrusts

Question 102

APNOEA OF PREMATURITY What is apnoea of prematurity? What is the management?

Answer 102

- Immature autonomic nervous system as brainstem not fully myelinated - Apnoea monitors > gentle tactile stimulation or IV caffeine

Question 103

RDS | What is the pathophysiology respiratory distress syndrome (RDS)?

Answer 103

- Inadequate surfactant > high surface tension within alveoli in structurally immature lungs which can lead to atelectasis + so respiratory compromise

Question 104

RDS | What are some risk factors of RDS?

Answer 104

- Prematurity #1 - Maternal DM - 2nd premature twin - C-section

Question 105

RDS | What are some clinical features of RDS?

Answer 105

- Tachypnoea, intercostal recessions, grunting + cyanosis | - CXR = reticular "ground-glass" changes, heart borders indistinct, air bronchograms

Question 106

RDS | What are the short and long term complications of RDS?

Answer 106

- Short = pneumothorax, infection, NEC | - Long = bronchopulmonary dysplasia, retinopathy of prematurity

Question 107

RDS | What is the management of RDS?

Answer 107

- Prophylaxis = maternal corticosteroids if delivery at <34w | - Oxygen, assisted ventilation (CPAP) + endotracheal surfactant

Question 108

CHRONIC LUNG DISEASE | What is bronchopulmonary dysplasia?

Answer 108

- Diagnosed when infant requires oxygen therapy after they reach 36w gestation

Question 109

NEC. ENTEROCOLITIS What is necrotising enterocolitis? What are some risk factors?

Answer 109

- Bowel of premature infant becomes ischaemic + infected | - Prematurity, RDS, sepsis

Question 110

NEC. ENTEROCOLITIS | What is the clinical presentation of necrotising enterocolitis?

Answer 110

- Bilious vomiting - Intolerance to feeds - Distended, tender abdo with absent bowel sounds - Bloody stools

Question 111

NEC. ENTEROCOLITIS What are some investigations for necrotising enterocolitis? What is the diagnostic investigation?

Answer 111

- Blood culture (sepsis) - CRP - Capillary blood gas = metabolic acidosis - AXR is diagnostic

Question 112

NEC. ENTEROCOLITIS | What would an AXR show in necrotising enterocolitis?

Answer 112

- Dilated loops of bowel - Bowel wall oedema (thickened bowel walls) - Pneumatosis intestinalis (intramural gas) - Pneumoperitoneum with Football sign = air outlining falciform ligament and Rigler's sign = air both inside/outside bowel wall - Gas in portal veins

Question 113

NEC. ENTEROCOLITIS | What are some complications of necrotising enterocolitis?

Answer 113

- Dead bowel > perforation + peritonitis > sepsis + shock - Stricture formation - Short bowel syndrome (malabsorption) if extensive resection required

Question 114

NEC. ENTEROCOLITIS | What is the management of necrotising enterocolitis?

Answer 114

- ABCDE, broad spectrum Abx + NBM with parenteral nutrition | - Surgery to resect necrotic sections of bowel, laparotomy if perforation

Question 115

JAUNDICE What is jaundice? When is it concerning?

Answer 115

- Abnormally high levels of bilirubin in the blood | - Persistent/prolonged >2w full term or >3w preterm

Question 116

JAUNDICE Jaundice can be split into 3 aetiological time categories. What are these?

Answer 116

- <24h = always pathological, usually haemolytic disease - 24h–2w = common - >2w = also bad

Question 117

JAUNDICE | What are some causes of jaundice <24h after birth?

Answer 117

- Haemolytic diseases #1 = rhesus/ABO haemolytic disease, G6PD, spherocytosis - Congenital infection (TORCH), sepsis

Question 118

JAUNDICE | What are some causes of jaundice 24h–2w after birth?

Answer 118

- Physiological + breast milk jaundice (common) | - Infection (UTI, sepsis), polycythaemia

Question 119

JAUNDICE | What are some causes of jaundice >2w after birth?

Answer 119

- Unconjugated = physiological, sepsis, hypothyroidism | - Conjugated = neonatal hepatitis, biliary atresia

Question 120

JAUNDICE | What causes physiological jaundice?

Answer 120

- High concentration of RBCs in neonate which are more fragile with shorter lifespan - Neonate has less developed liver

Question 121

JAUNDICE What is Gilbert's syndrome? How does it present? What is the management?

Answer 121

- AR deficiency of UDP-glucuronyl transferase = defective bilirubin conjugation - Isolated raised bilirubin, may only have jaundice when ill, exercising or fasting - No treatment

Question 122

JAUNDICE | What investigations would you perform in neonatal jaundice?

Answer 122

- FBC + blood film = polycythaemia, G6PD + spherocytosis - Conjugated and unconjugated bilirubin - Direct antiglobulin test (Coombs) - TORCH screen and urine MC&S

Question 123

JAUNDICE | How would you measure bilirubin levels depending on age?

Answer 123

- >24h old = transcutaneous bilirubin meter if high, serum to confirm within 6h - <24h old = serum bilirubin within 2h

Question 124

JAUNDICE What is the main complication of jaundice? What is it?

Answer 124

- Kernicterus | - Bilirubin-induced encephalopathy caused by deposition in brain/basal ganglia

Question 125

JAUNDICE What is the management of kernicterus? What is are some consequences?

Answer 125

- Exchange transfusion | - Permanent damage > cerebral palsy, deafness, learning disability

Question 126

JAUNDICE | What is the management of jaundice?

Answer 126

- Bilirubin Tx threshold charts, plot age of baby against total bilirubin level + treat once at threshold - Phototherapy (450mm wavelength blue-green band) if 350–450 - Exchange transfusion if severe >450

Question 127

JAUNDICE What is the physiology behind phototherapy? What are some side effects?

Answer 127

- Converts unconjugated bilirubin > water-soluble pigment that can be excreted in urine, cover infant's eyes - Temp instability, macular rash, bronze discolouration

Question 128

BILIARY ATRESIA | What is biliary atresia?

Answer 128

- Congenital destruction or discontinuity within the extrahepatic biliary system leading to obstruction to bile flow

Question 129

BILIARY ATRESIA | What is the clinical presentation of biliary atresia?

Answer 129

- Prolonged jaundice >2w - Pale stools + dark urine (obstructive pattern) - Failure to thrive - Hepatosplenomegaly

Question 130

BILIARY ATRESIA What investigations would you do in biliary atresia? What is the management?

Answer 130

- Elevated conjugated bilirubin - Definitive dx = cholangiography - Surgical Kasai portoenterostomy

Question 131

NEONATAL HEPATITIS What is neonatal hepatitis syndrome? What are some causes?

Answer 131

- Prolonged neonatal jaundice + hepatic inflammation | - Congenital infection, A1AT deficiency, Wilson's disease + galactosaemia

Question 132

HIE | What is hypoxic ischaemic encephalopathy (HIE)?

Answer 132

- Brain damage secondary to ante- or peri-natal hypoxia due to primary neuronal death and secondary reperfusion injury

Question 133

HIE | What are the causes of HIE?

Answer 133

- Asphyxia = placental abruption, cord compression, failure to breathe

Question 134

HIE What is used to stage the severity of HIE? What is used to investigate HIE? What is the main complication of HIE?

Answer 134

- Sarnat staging ranging from mild (irritable) to severe (reduced GCS, seizures, hypotonia) - EEG - Permanent brain damage = cerebral palsy

Question 135

HIE | What is the main therapeutic management of HIE?

Answer 135

- Therapeutic hypothermia to help protect from further damage by secondary reperfusion injury

Question 136

IV HAEMORRHAGE What is an intraventricular haemorrhage? When is it more common? What is the management?

Answer 136

- Haemorrhage in the ventricular system - Perinatal asphyxia + prematurity - Cranial USS, supportive, VP shunt if hydrocephalus or rising ICP

Question 137

HYPOGLYCAEMIA What is neonatal hypoglycaemia? What are some risk factors? How might it present?

Answer 137

- No agreed definition but <2.6mmol/L often used - Preterm, maternal DM, IUGR, neonatal sepsis - Jitteriness, irritable, poor feeding, drowsy

Question 138

HYPOGLYCAEMIA | What is the management of neonatal hypoglycaemia?

Answer 138

- Asymptomatic = encourage normal feeding (breast or bottle), monitor blood glucose - Symptomatic or very low = admit to neonatal unit, IV 10% dextrose infusion

Question 139

RETINOPATHY | What is thought to contribute to retinopathy of prematurity?

Answer 139

- Over oxygenation resulting in proliferation of retinal blood vessels (neovascularisation) - RDS, prematurity (esp. <32w), very LBW <1.5kg

Question 140

RETINOPATHY | What is the management of retinopathy of prematurity?

Answer 140

- Regular eye screening by ophthalmologist for at-risk groups - Laser photocoagulation if neovascularisation

Question 141

CDH What is congenital diaphragmatic hernia? Most common type?

Answer 141

- Herniation of abdominal viscera into chest cavity due to failure of pleuroperitoneal cavity to close - Most common is L sided posteriolateral

Question 142

CDH | What are some clinical features of congenital diaphragmatic hernia?

Answer 142

- Respiratory distress (pulmonary hypoplasia) - Bowel sounds when auscultating chest - Often diagnosed antenatally, CXR = bowel in lungs

Question 143

NEONATAL SEPSIS What is neonatal sepsis? What are some risk factors of neonatal sepsis?

Answer 143

- Serious infection in blood affecting babies within first 28d of life - Maternal GBS colonisation, GBS sepsis in previous baby, chorioamnionitis, PPROM, LBW

Question 144

NEONATAL SEPSIS | What are some causes of neonatal sepsis?

Answer 144

- Early onset <72h from mother–baby during delivery = group B streptococcus agalactiae #1, E. coli - Late onset 7–28d from environment post-delivery = staph. epidermidis, pseudomonas aeruginosa

Question 145

NEONATAL SEPSIS | What is the clinical presentation of neonatal sepsis?

Answer 145

- Respiratory distress #1 = grunting, nasal flaring, tachypnoea or apnoea - Jaundice, seizures, poor feeding

Question 146

NEONATAL SEPSIS | What are the investigations for neonatal sepsis?

Answer 146

Septic screen – - FBC, CRP, blood cultures - Blood gas (metabolic acidosis worrying) - Urine MC&S - CXR - LP for CSF sample

Question 147

NEONATAL SEPSIS | What is the management of neonatal sepsis?

Answer 147

- IV benzylpenicillin (gram +ve) + gentamicin (gram -ve) = 1st line - At 48h if CRP <10 and cultures negative = stop Abx

Question 148

MECONIUM ASPIRATION What is meconium aspiration? What are some risk factors?

Answer 148

- Respiratory distress + chemical pneumonitis 2º to meconium in the lungs - Post-term deliveries, pre-eclampsia, chorioamnionitis

Question 149

MECONIUM ASPIRATION What can meconium aspiration lead to? What is the management?

Answer 149

- Persistent pulmonary HTN | - Ventilation, suction

Question 150

NIPE EXAMINATION What is the process of the NIPE exam? What are the components?

Answer 150

- First within 72h of birth + second by GP at 6–8w | - General observation, eyes, heart, hips + genitalia

Question 151

NIPE EXAMINATION | What is looked for in the general observation?

Answer 151

- Weight, height, head circumference (HC = measure of brain size) - Palpate sutures + fontanelle - Dysmorphic features - Reflexes (grasp, sucking, rooting, moro)

Question 152

NIPE EXAMINATION | What is looked for in the eyes examination?

Answer 152

- Red reflex (congenital cataracts, retinoblastoma) | - Movement (visual loss)

Question 153

NIPE EXAMINATION | What is looked for in the cardiac examination?

Answer 153

- HR 110–160bpm - Murmur (CHD) - Femoral pulse (coarctation) - Central cyanosis (cyanotic CHD)

Question 154

NIPE EXAMINATION | What is looked for in the hip examination

Answer 154

- Barlow + Ortolani test (DDH)

Question 155

NIPE EXAMINATION | What is looked for in the genitalia examination?

Answer 155

- Testes (cryptorchidism) - Ambiguous genitalia (CAH) - Genitalia (hypospadias) - Imperforate anus (bladder/vaginal fistula)

Question 156

CLEFT LIP AND PALATE What is a cleft lip? What is a cleft palate?

Answer 156

- Failure of fusion of the frontonasal + maxillary processes | - Failure of fusion of palatine processes + nasal septum

Question 157

CLEFT LIP AND PALATE What are some causes of cleft lip and palate? What are some complications? What is the management?

Answer 157

- Chromosomal disorder or maternal AED therapy - Poor feeding, speech delay, recurrent otitis media (palate) - Lip earlier at ≤3m, palate later at 6–12m

Question 158

OESOPHAGEAL ATRESIA What is oesophageal atresia? What is it associated with?

Answer 158

- Upper + lower oesophagus in 2 sections + does not connect | - Tracheo-oesophageal fistula, polyhydramnios + VACTERL association

Question 159

OESOPHAGEAL ATRESIA How does oesophageal atresia present? How is it managed?

Answer 159

- Difficulty feeding + overflow saliva | - Surgical

Question 160

DUODENAL ATRESIA What is duodenal atresia? What is it associated with? What is the investigation and management?

Answer 160

- Congenital absence or complete closure of duodenum > intestinal obstruction = bilious vomiting - Down's syndrome and VACTERL - AXR shows 'double bubble' from distension of stomach + duodenal cap, surgical

Question 161

GASTROSCHISIS What is gastroschisis? How do you investigate it? What is the management?

Answer 161

- Bowel protrudes through anterior abdominal wall, no covering sac - USS = free loops of bowel in amniotic fluid - Attempt vaginal, wrap in clingfilm, theatre ASAP

Question 162

EXOMPHALOS | What is exomphalos, or omphalocele?

Answer 162

- Abdominal contents protrude through umbilical ring, covered with a transparent sac formed by the amniotic membrane + peritoneum

Question 163

EXOMPHALOS What is exomphalos associated with? What is the management?

Answer 163

- Other major congenital abnormalities, antenatal Dx | - C-section at 37w, staged repair as primary closure difficult

Question 164

NEONATAL CONJUNCTIVITIS How does gonococcal conjunctivitis present? What is the management?

Answer 164

- Purulent discharge, conjunctival injection + eyelid swelling <48h - IV Abx as can lose vision

Question 165

NEONATAL CONJUNCTIVITIS How does chlamydia conjunctivitis present? What is the management?

Answer 165

- Purulent discharge, eyelid swelling, 1-2w | - PO erythromycin

Question 166

TRANSIENT TACHYPNOEA What is transient tachypnoea of the newborn? What is it caused by?

Answer 166

- Commonest cause of resp distress in term infants | - Seen after c-section as ?fluid not 'squeezed out' during passage through birth canal

Question 167

TRANSIENT TACHYPNOEA What might a CXR show in transient tachypnoea of the newborn? What is the management?

Answer 167

- Hyperinflation + fluid in horizontal fissure | - Observation, supportive ± oxygen if needed

Question 168

FOETAL CIRCULATION | What are physiological (innocent flow) murmurs?

Answer 168

4S's – - Soft blowing murmur - Symptomless - left Sternal edge - Systolic murmur only

Question 169

FOETAL CIRCULATION | What is Eisenmenger's syndrome?

Answer 169

- L>R shunt as systemic pressure is higher than pulmonary pressure - Over time, pulmonary pressure may increase beyond the systemic pressure - This is due to pulmonary HTN > increasing RH pressures + so RVH leading to shunt reversal (R>L) + so cyanosis - May have plethoric complexion due to compensatory polycythaemia

Question 170

FOETAL CIRCULATION | What are the main cyanotic heart diseases?

Answer 170

``` 4Ts – - ToF - TGA - Tricuspid atresia - Truncus arteriosus (Complete AVSD too) ```

Question 171

ATRIAL SEPTAL DEFECT | What are the main types of ASD?

Answer 171

- Ostium primum (group with AVSD) | - Ostium secundum (80%) = defect involving foramen ovale

Question 172

ATRIAL SEPTAL DEFECT | What are the key features of ASD?

Answer 172

- Dysponea, failure to thrive - Fixed + widely split S2 (does not change with inspiration or expiration) - ESM at ULSE as increased flow across pulmonary valve

Question 173

ATRIAL SEPTAL DEFECT | What are some investigations for ASD?

Answer 173

- CXR = cardiomegaly, increased pulmonary vascular markings - Primum ECG = RBBB + LAD - Secundum ASD = RBBB + RAD - ECHO is diagnostic

Question 174

ATRIAL SEPTAL DEFECT What are the complications of ASD? What is the management?

Answer 174

- Eisenmenger syndrome, risk of stroke if DVT or AF | - Conservative or surgery

Question 175

VSD What are some conditions associated to VSD? What is the clinical presentation?

Answer 175

- Trisomy 13, 18 + 21 - Failure to thrive, heart failure (tachypnoea, hepatomegaly, tachycardia) - Pansystolic murmur at LLSE, louder = smaller VSD

Question 176

VSD What are the investigations in VSD? What are some complications?

Answer 176

- CXR may show signs of heart failure if large VSD, echo diagnostic - Infective endocarditis, Eisenmenger's syndrome, heart failure, AR

Question 177

VSD | What is the management of VSD?

Answer 177

- Conservative or surgery at 3–6m | - Large VSD with heart failure = diuretics, captopril

Question 178

COMPLETE AVSD What is a complete atrioventricular septal defect (AVSD)? What is a key association?

Answer 178

- Defect between atria + ventricles, can lead to pulmonary HTN - Down's syndrome

Question 179

COMPLETE AVSD How does complete AVSD present? What is the management?

Answer 179

- Cyanosis at birth with heart failure 2–3w of life, no murmur - Medical treatment for heart failure + surgical repair at 3–6m

Question 180

PDA What is a patent ductus arteriosus (PDA)? What are 2 key risk factors?

Answer 180

- Connection between aorta + pulmonary arteries so increased blood flow to lungs + LV so > LVH - Prematurity + maternal rubella

Question 181

PDA | What are some key clinical features of PDA?

Answer 181

- Left subclavicular thrill + continuous 'machinery' murmur at that area - Wide pulse pressure with a bounding/collapsing pulse

Question 182

PDA | What is the management of PDA?

Answer 182

- Echo to confirm Dx | - NSAIDs (indomethacin) = facilitates closure of PDA as inhibits prostaglandins

Question 183

TOF | What abnormalities are described in tetralogy of fallot (TOF)?

Answer 183

- Large VSD - Pulmonary stenosis (RV outflow obstruction) - RVH - Overriding aorta (If ASD present too = pentad of Fallot)

Question 184

TOF What is the pathophysiology of TOF? How does it compare to other cyanotic CHD? What is TOF associated with?

Answer 184

- Pulmonary stenosis leads to RVp>LVp so R>L shunt across VSD and cyanosis - Cyanosis presents later than in TGA, about 1–2m - Trisomy 21, increased maternal age >40

Question 185

TOF | What are some key clinical features of TOF?

Answer 185

- Exertional hyper-cyanotic 'tet' spells = tachypnoea, cyanosis - ESM at ULSE due to pulmonary stenosis - Digital clubbing - Squatting on exercise to increased peripheral vascular resistance which decreases degree of R>L shunt and improves symptoms

Question 186

TOF | What are the some investigations for TOF?

Answer 186

- CXR = boot shaped heart due to RVH | - Echocardiogram = diagnostic

Question 187

TOF | What is the management of TOF?

Answer 187

- Tet spells = analgesia, oxygen, last resort propranolol to vasoconstrict - Surgical repair in 2 parts

Question 188

TGA | What is transposition of the great vessels (TGA)?

Answer 188

- Aorta connected to RV, pulmonary artery connected to LV > cyanosis

Question 189

TGA | What is the clinical presentation of TGA?

Answer 189

- Cyanosis day 2 as duct closes > life-threatening - No murmur but S2 usually loud + singular - Prominent RV impulse on palpation

Question 190

TGA | What are the investigations for TGA?

Answer 190

- Pre (R arm) + post duct (foot) sats - CXR = narrow mediastinum with 'egg on its side' appearance - ECHO confirms Dx

Question 191

TGA | What is the management of TGA?

Answer 191

- Neonates = prostaglandin E1 infusion to maintain ductus arteriosus - Arterial switch procedure = definitive Mx

Question 192

TRICUSPID ATRESIA What is tricuspid atresia? How does it present? What is the management?

Answer 192

- RV small + non-functional, complete absence of tricuspid valve, only LV effective - Cyanosis - PGE1 infusion to maintain ductus arteriosus

Question 193

COARCTATION OF AORTA What is coarctation of the aorta? What is it associated with?

Answer 193

- Congenital narrowing of descending aorta leading to collateral circulation forming to increase flow to lower body = intercostal arteries dilated + tortuous - Turner's syndrome, bicuspid aortic valve

Question 194

COARCTATION OF AORTA | What are the clinical features of coarctation of the aorta?

Answer 194

- Weak femoral pulses + radio-femoral delay - Systolic murmur between scapulas - Heart failure + cyanosis as duct closes

Question 195

COARCTATION OF AORTA What are the investigations for coarctation of the aorta? What is the management of coarctation of aorta?

Answer 195

- 4 limb BP (R arm > L arm), pre + post-duct sats - CXR = cardiomegaly + rib notching (often teens + adults) - PGE1 infusion, surgical repair

Question 196

EBSTEIN'S ANOMALY What is Ebstein's anomaly? What is it associated with?

Answer 196

- Low insertion of tricuspid valve = large atrium + smaller ventricle (atrialisation) - Majority have PFO or ASD = RA > LA shunt - Associated with WPW syndrome + lithium in pregnancy

Question 197

EBSTEIN'S ANOMALY | What is the clinical presentation of Ebstein's anomaly?

Answer 197

- Cyanosis, hepatomegaly - Tricuspid regurgitation = pansystolic murmur - RBBB on ECG

Question 198

RHEUMATIC FEVER | What is the pathophysiology of rheumatic fever?

Answer 198

- T2 hypersensitivity reaction as antibodies target various systems 2–4w following group A beta-haemolytic streptococcus pyogenes infection

Question 199

RHEUMATIC FEVER | How is rheumatic fever diagnosed?

Answer 199

Jones criteria – | - Evidence of recent strep infection plus 2 major or 1 major + 2 minor criteria

Question 200

RHEUMATIC FEVER | What are the major criteria in rheumatic fever?

Answer 200

JONES – - Joint arthritis (migratory) - Organ inflammation (pancarditis) - Nodules (subcutaneous) - Erythema marginatum rash (pink rings of varying sizes) - Sydenham chorea

Question 201

RHEUMATIC FEVER | What are the minor criteria in rheumatic fever?

Answer 201

FEAR – - Fever - ECG changes (prolonged PR interval) without carditis - Arthralgia without arthritis - Raised CRP/ESR

Question 202

RHEUMATIC FEVER | What are the investigations for rheumatic fever?

Answer 202

- Throat swab for MC&S - Anti-streptococcal antibodies (ASO) titres raised - Streptococcal antigen test +ve - ECG + echocardiogram

Question 203

RHEUMATIC FEVER | What are some complications of rheumatic fever?

Answer 203

- Recurrence - Valvular heart disease (mitral stenosis especially) - Chronic heart failure

Question 204

RHEUMATIC FEVER | What is the management of rheumatic fever?

Answer 204

- Prevention by treating strep infections with 10d phenoxymethylpenicillin - NSAIDs first line - Prophylactic IM benzathine penicillin every 4w to prevent recurrence

Question 205

HIRSCHSPRUNG'S DISEASE | What is Hirschsprung's disease?

Answer 205

- Absence of ganglionic cells from myenteric (Auerbach's) plexus of large bowel resulting in narrow, contracted section of bowel > large bowel obstruction

Question 206

HIRSCHSPRUNG'S DISEASE Where is most affected by Hirschsprung's disease? What is it associated with

Answer 206

- 75% confined to rectosigmoid | - Males, Down's syndrome

Question 207

HIRSCHSPRUNG'S DISEASE | What is the clinical presentation of Hirschsprung's disease?

Answer 207

- Failure or delay to pass meconium within 24h - Early constipation and late vomiting, abdo distension - PR = narrow segment, withdrawal leads to forecful evacuation

Question 208

HIRSCHSPRUNG'S DISEASE What are some investigations for Hirschsprung's disease? What is the diagnostic investigation?

Answer 208

- AXR with barium contrast = dilated loops of bowel with fluid level - Suction rectal biopsy = DIAGNOSTIC showing absence of ganglionic cells

Question 209

HIRSCHSPRUNG'S DISEASE | What is the management of Hirschsprung's disease?

Answer 209

- Initial = bowel irrigation | - Surgical resection = anorectal pullthrough (anastomosing innervated bowel to anus)

Question 210

PYLORIC STENOSIS What is pyloric stenosis? What is the epidemiology?

Answer 210

- Hypertrophy of the pyloric (circular) muscle causing gastric outlet obstruction - Presents 2–7w, males, particularly first-borns

Question 211

PYLORIC STENOSIS | What is the clinical presentation of pyloric stenosis?

Answer 211

- Projectile vomiting (no bile) due to powerful peristalsis 30m AFTER feeds - Constipation + dehydration - Palpable abdominal 'olive' mass in RUQ (hypertrophic muscle)

Question 212

PYLORIC STENOSIS What are some investigations for pyloric stenosis? What investigation is diagnostic?

Answer 212

- Test feed = visible gastric peristalsis - Hypochloraemic hypokalaemic metabolic alkalosis from vomiting - USS = Dx, visualises thickened pylorus

Question 213

PYLORIC STENOSIS | What is the management of pyloric stenosis?

Answer 213

- Laparoscopic Ramstedt's pyloromyotomy, can feed 6h after

Question 214

INTUSSUSCEPTION What is intussusception? Most commonly seen? Epidemiology?

Answer 214

- Bowel telescopes (invaginates) into itself (proximal bowel into distal segment) - Commonly ileocaecal valve (ileum>caecum) - Most common cause of intestinal obstruction in infants 2m–2y, M>F

Question 215

INTUSSUSCEPTION | What are some symptoms of intussusception?

Answer 215

- Severe paroxysmal abdominal colic pain where infant draws knees up + turns pale - Bilious vomiting, abdominal distension - RUQ sausage-shaped mass - Redcurrant jelly stool as blood + mucus in stool

Question 216

INTUSSUSCEPTION What are the investigations for intussusception? What is the management?

Answer 216

- USS #1 choice, shows 'target sign' - Initial = reduction via air enema (insufflation) by radiologist (risk of perforation) - Surgery if fails or peritonitic

Question 217

MECKEL'S DIVERTICULUM | What is Meckel's diverticulum?

Answer 217

- Ileal remnant of the vitello-intestinal duct which contains ectopic ileal, gastric or pancreatic mucosa - 2% population, 2 feet from ileocaeccal valve, 2 inches, 2 types of tissue, 2y/o

Question 218

MECKEL'S DIVERTICULUM | What is the clinical presentation of Meckel's diverticulum?

Answer 218

- #1 cause of painless massive GI bleeding in children 1–2y | - Obstruction secondary to volvulus or intussusception

Question 219

MECKEL'S DIVERTICULUM What is an investigation for Meckel's diverticulum? What is the management?

Answer 219

- Technetium scan will demonstrate increased uptake by ectopic gastric mucosa - Surgical resection, may need blood transfusion

Question 220

INTESTINAL MALROTATION What is intestinal malrotation? What is the outcome?

Answer 220

- Midgut rotates and fixates in abnormal position making it more prone to volvulus and compression of the duodenum by peritoneal (Ladd) bands

Question 221

INTESTINAL MALROTATION | What is the clinical presentation of intestinal malrotation?

Answer 221

- First week of life bilious vomiting as below sphincter of oddi - Abdominal pain

Question 222

INTESTINAL MALROTATION | What is the investigation and management of intestinal malrotation?

Answer 222

- Urgent upper GI contrast study = Dx | - Urgent surgical correction

Question 223

MESENTERIC ADENITIS What is mesenteric adenitis? How does it present? What is the management?

Answer 223

- Inflamed lymph nodes within the mesentery often following viral URTI - Similar Sx to appendicitis - Diagnosed on laparoscopy, no Rx

Question 224

VOMITING | What are some common causes of vomiting in infants?

Answer 224

- GOR (v common) - Infection (gastroenteritis, pertussis, UTI, meningitis) - Dietary protein intolerances - Intestinal obstruction (pyloric stenosis, malrotation)

Question 225

VOMITING | What are some common causes of vomiting in preschool children?

Answer 225

- Gastroenteritis + infections - Appendicitis - Intestinal obstruction (intussusception, volvulus) - Torsion

Question 226

VOMITING | What are some common causes of vomiting in school-age children and adolescents?

Answer 226

- Gastroenteritis, infection - Torsion - Appendicitis - DKA - Bulimia nervosa

Question 227

GOR How does gastro-oesophageal reflux (GOR) present? What are some risk factors?

Answer 227

- Vomiting/regurgitation following feeds, often before 8w | - Preterm delivery, neuro disorders (cerebral palsy)

Question 228

GOR | What are some complications of GOR?

Answer 228

- Failure to thrive from severe vomiting - Oesophagitis, aspiration pneumonia - Sandifer syndrome = dystonic neck posturing (torticollis)

Question 229

GOR What conservative management is recommended in GOR? If that fails, what is the first and second line management?

Answer 229

- Small + frequent feeds, burping regularly, keep upright after - 1st line = trial thickened formula - 2nd line = trial alginate therapy (Gaviscon)

Question 230

GOR | After trial with thickened formula and Gaviscon, what is the management of GOR and what is the criteria?

Answer 230

- PPI or H2 receptor antagonist | - Faltering growth, distressed behaviour or unexplained feeding difficulties (refused feeds, gagging/choking)

Question 231

GOR | What is the last resort management for GOR and when is it considered?

Answer 231

- Fundoplication = failure to thrive + medical treatment ineffective

Question 232

``` THREADWORMS What causes threadworms? How does it present? How is it investigated? How is it treated? ```

Answer 232

- Enterobius vermicularis - Perianal itching (esp. at night), girls may have vulval Sx - Sellotape perianal area + send to lab to visualise eggs - Anti-helminthic (mebendazole if >6m STAT) + hygiene measures for WHOLE family

Question 233

PUBERTY In terms of female puberty... i) age? ii) first sign? iii) other signs?

Answer 233

i) 8.5–12.5 ii) Thelarche (breast development) iii) Pubarche (growth of pubic hair) + rapid height spurt after thelarche, menarche occurs roughly 2.5y after start of puberty (signals growth coming to an end)

Question 234

PUBERTY In terms of male puberty... i) age? ii) first sign? iii) other signs?

Answer 234

i) 10–14 ii) Testicular enlargement >4ml (Prader orchidometer) iii) Pubarche follows testicular enlargement then height spurt

Question 235

PUBERTY | What features of puberty are consistent with both sexes?

Answer 235

- Adrenarche = maturation of adrenal gland leading to androgen production causing body odour + mild acne

Question 236

PRECOCIOUS PUBERTY | What are the 2 main types of precocious puberty and what causes them?

Answer 236

- Gonadotropin-dependent (central/true) = premature activation of hypothalamic-pituitary-gonadal axis (FSH/LH raised > sex hormones raised) - Gonadotropin-independent (pseudo/false) = excess sex steroids (so FSH/LH low)

Question 237

PRECOCIOUS PUBERTY What is precocious puberty in females? What are the causes? What is the management?

Answer 237

- Development of secondary sexual characteristics (thelarche) <8y - More common, usually central, idiopathic/familial (FHx) - None unless not ready > GnRH analogues

Question 238

PRECOCIOUS PUBERTY What is precocious puberty in males? What are the causes?

Answer 238

- Development of secondary sexual characteristics <9y - Less common, more worrying – Bilateral testicular enlargement = gonadotropin release from intracranial lesion (pituitary adenoma) – Unilateral enlargement = gonadal tumour – Small testes = adrenal cause (tumour or CAH)

Question 239

CAH What is congenital adrenal hyperplasia (CAH)? What is a major risk factor?

Answer 239

- Autosomal recessive condition with deficiency of 21-hydroxylase enzyme - Small minority = 11-beta-hydroxylase - Consanguineous parents

Question 240

CAH | What is the pathophysiology of CAH?

Answer 240

- Progesterone is converted into testosterone independently and cortisol + aldosterone 21-hydroxylase dependent meaning there is excess progesterone which is converted into testosterone (high) but low cortisol + aldosterone

Question 241

CAH What is the clinical presentation of CAH in females? What is the clinical presentation of CAH in males? What might they both present with?

Answer 241

- Virilised genitalia, oligomenorrhoea, hirsutism, tall for age, deep voice - Tall for age, deep voice, small testicles + precocious puberty - Skin hyperpigmentation (high ACTH)

Question 242

``` CAH What is a critical complication of CAH? How does it present? Biochemical picture? What is the management? ```

Answer 242

- Salt-losing crisis after birth - Vomiting, dehydration + circulatory collapse - Hyponatraemia, hyperkalaemic, metabolic acidosis, hypoglycaemia - IV 0.9% NaCl (+ dextrose if low), IV hydrocortisone

Question 243

CAH | What are some investigations for CAH?

Answer 243

- Plasma androgens (high as ACTH high) | - High metabolic precursor levels of 17alpha-hydroxyprogesterone (used to monitor disease too)

Question 244

CAH | What management is needed for females with CAH and in general for CAH?

Answer 244

- Corrective surgery to external genitalia within 1st year | - Lifelong hydrocortisone ± fludrocortisone

Question 245

DELAYED PUBERTY | How is delayed puberty defined in males and females?

Answer 245

- Males = no pubertal development by age 14 | - Females = no pubertal development by age 13

Question 246

DELAYED PUBERTY | What are the two main causes of delayed puberty?

Answer 246

- Hypogonadotropic hypogonadism = deficiency of FSH + LH so low sex hormones - Hypergonadotropic hypogonadism = gonads fail to respond to high FSH + LH levels

Question 247

DELAYED PUBERTY | What are some causes of hypogonadotropic hypogonadism?

Answer 247

- Normal stature = constitutional delay (FHx), Kallmann's syndrome (+ anosmia) - Chronic disease - Excessive stress - Pituitary pathology

Question 248

DELAYED PUBERTY | What are some causes of hypergonadotropic hypogonadism?

Answer 248

- Short stature = Turner's, Noonan's + Prader-Willi | - Normal stature = Klinefelter's

Question 249

DELAYED PUBERTY | What are some investigations for delayed puberty?

Answer 249

- Underlying > FBC + ferritin (anaemia), U+E (CKD), anti-TTG - Hormonal testing - Genetic testing/karyotyping - XR wrist to assess bone age (delayed in constitutional) - ?Pelvic USS, ?MRI head

Question 250

DELAYED PUBERTY | What are the hormonal tests you would do in delayed puberty?

Answer 250

- Early morning serum gonadotropins (FSH/LH) - IGF-1 to screen for GH deficiency - ?TFTs, ?Prolactin

Question 251

DELAYED PUBERTY | What is the management of delayed puberty?

Answer 251

- Constitutional = reassure, if distress specialist may consider sex hormones

Question 252

MEASUREMENT | How do you calculate the mid-parental height?

Answer 252

- Boys = [(Dad + mum height in cm) ÷ 2] + 7 | - Girls = [(Dad + mum height in cm) ÷ 2] – 7

Question 253

MEASUREMENT | What is the role of measurements in paediatrics?

Answer 253

- Assess if a child's overall height is abnormal (<2nd or >98th centile) – GP review if <2nd, Paeds review if <0.4th - Assess if a child is failing to follow their growth potential (dropping centile more concerning than consistently 9th)

Question 254

FAILURE TO THRIVE | What is failure to thrive?

Answer 254

- Failure to gain adequate weight or achieve adequate growth at a normal rate during infancy or childhood aka faltering growth

Question 255

FAILURE TO THRIVE | What are some broad aetiological categories for failure to thrive?

Answer 255

- Inadequate calorie intake (most common) - Malabsorption - Inadequate retention - Inability to process nutrients properly - Increased calorie requirements

Question 256

FAILURE TO THRIVE What are some causes of inadequate calorie intake? What are some causes of malabsorption?

Answer 256

- Impaired suck/swallow (cleft palate, CP), socioeconomic deprivation, neglect - CF, IBD, coeliac, cow's milk protein intolerance

Question 257

FAILURE TO THRIVE What are some causes of inadequate retention What are some causes of inability to process nutrients properly? What are some causes of increased calorie requirements?

Answer 257

- Vomiting - T1DM, inborn errors of metabolism - Chronic disease (CF, CHD, CKD), malignancy

Question 258

FAILURE TO THRIVE | How is failure to thrive defined by height?

Answer 258

- Mild = fall across 2 centile lines on growth chart | - Severe = fall across 3 centile lines on growth chart

Question 259

FAILURE TO THRIVE | How does NICE define faltering growth in children by weight?

Answer 259

- ≥1 centile spaces if birth weight was <9th centile - ≥2 centile spaces if birth weight was 9th–91st centile - ≥3 centile spaces if birth weight was >91st centile - Current weight is below 2nd centile for age, regardless of birth weight

Question 260

FAILURE TO THRIVE | What are some investigations for failure to thrive?

Answer 260

- Serial measurements on growth charts for Dx - Measure height + weight for BMI (if >2y) + mid-parental height - Food diary - Urine dipstick for UTI + anti-TTG for 1st line investigations

Question 261

SHORT STATURE | Define short stature

Answer 261

- Height below 2nd centile (>2 standard deviations below the mean for the age, sex)

Question 262

SHORT STATURE | What are some broad causes of short stature?

Answer 262

- Familial = short parents or constitutional delay - Endocrine = GH deficiency, hypothyroidism - Genetic = Down's, Turner's, Noonan's, achondroplasia - Chronic illness = IBD, CHD, coeliac - Psychosocial = neglect, malnutrition

Question 263

SHORT STATURE | How would endocrine causes of short stature compare to chronic illness such as IBD?

Answer 263

- Endo = falling off height centiles so weight > height | - Chronic = falling off weight centiles so height > weight

Question 264

TALL STATURE | Define tall stature

Answer 264

- Height above 98th centile (>2 standard deviations above the mean for the age, sex)

Question 265

TALL STATURE | What are some causes of tall stature?

Answer 265

- Familial (#1) - Obesity - Secondary = hyperthyroidism, precocious puberty, CAH - Syndromes = Marfan, Klinefelter

Question 266

LIMP OVERVIEW What is the main source of a limp? What are important differentials?

Answer 266

- Hip, then leg > knee > thigh > foot (least likely) | - Intra-abdominal pathology like hernia, testicular torsion

Question 267

LIMP OVERVIEW | What are some differentials for limp in a child 0–3y?

Answer 267

- Trauma (accidental or NAI) - Infections (septic arthritis, osteomyelitis) - DDH (chronic) - Malignancy - Neuromuscular disease (CP, Duchenne's) * ANY CHILD <3Y WITH LIMP NEEDS URGENT ASSESSMENT*

Question 268

LIMP OVERVIEW | What are some differentials for limp in a child 4–10y?

Answer 268

- Trauma, infection, malignancy - Transient synovitis (acute) - Perthe's disease (P for primary school, chronic) - Juvenile idiopathic arthritis (chronic)

Question 269

LIMP OVERVIEW | What are some differentials for limp in a child >10y?

Answer 269

- Trauma, infection, malignancy - Slipped upper femoral epiphysis (S for secondary school) - JIA - Reactive arthritis

Question 270

DDH | What is developmental dysplasia of the hip (DDH)?

Answer 270

- Abnormal relationship of femoral head to the acetabulum leading to aberrant development of hip causing instability

Question 271

DDH What are some key risk factors for DDH? How would you manage them? What are some other risk factors?

Answer 271

- First degree FHx, breech at ≥36w, multiple pregnancy – USS hip by 6w even if normal NIPE exam - Female, First born, Fluid (oligohydramnios)

Question 272

DDH | What is the clinical presentation of DDH?

Answer 272

- Leg length discrepancy - Restricted abduction of hip in flexion - Barlow = attempts to dislocate an articulated femoral head - Ortolani = attempts to relocate a dislocated femoral head

Question 273

DDH | What is the management of DDH?

Answer 273

- Hip screen +ve = USS by 2w unless >4.5m then XR first line - Pavlik harness if <6m to hold femoral head in position - Surgical reduction if harness fails or Dx > 6m

Question 274

PERTHES' DISEASE What is the pathophysiology of Perthes' disease? What is the epidemiology?

Answer 274

- Avascular necrosis of the femoral head, specifically femoral epiphysis - Much more common in boys, 4–8y (Perthes' = Primary school)

Question 275

PERTHES' DISEASE | What is the clinical presentation of Perthes' disease?

Answer 275

- Unilateral hip pain + limp over weeks - Stiffness + reduced ROM in hip - +ve Trendelenburg test (abductor dysfunction) = 'sound side sags'

Question 276

PERTHES' DISEASE | What are the investigations for Perthes' disease?

Answer 276

- XR of both hips (with frog views) = initial investigation (flattening of femoral head) - Technetium bone scan or MRI may be needed to confirm Dx if normal XR

Question 277

PERTHES' DISEASE | What are the complications of Perthes' disease?

Answer 277

- Premature fusion of the growth plates | - Early osteoarthritis

Question 278

PERTHES' DISEASE | What is the management of Perthes' disease?

Answer 278

- Keep femoral head within acetabulum (cast, braces) | - <6y = observation, if older consider surgery

Question 279

JIA | What is the criteria for a clinical diagnosis of JIA?

Answer 279

- Onset before 16y with no underlying cause - Joint swelling/stiffness - >6w in duration to exclude other causes (i.e. reactive)

Question 280

JIA | What are the main types of JIA?

Answer 280

- Systemic JIA (Still's disease) - Polyarticular JIA - Oligoarticular JIA

Question 281

JIA How does systemic JIA (Still's disease) present? What is a key complication?

Answer 281

- Salmon-pink rash + arthritis - High swinging fevers, lymphadenopathy + weight loss - Macrophage activation syndrome = severe immune reaction

Question 282

JIA What is polyarticular JIA? What are the features? How does it present?

Answer 282

- ≥5 joints affected, equivalent of RA in adults - Symmetrical, small joints (of hand + feet) as well as large joints (hips + knees) - Mild systemic Sx = mild fever, anaemia + reduced growth

Question 283

JIA What is oligoarticular JIA? What are the features? Epidemiology?

Answer 283

- ≤4 joints affected, often just monoarthritis - Tends to affect the larger joints like knee or ankle, usually no systemic Sx - Mostly girls <6y

Question 284

JIA | What are some investigations done in JIA?

Answer 284

- Raised inflammatory markers = CRP/ESR, platelets, serum ferritin - Serology = ANA and rheumatoid factor - HLA B27 +ve

Question 285

JIA | What serological patterns would you expect in the various types of JIA?

Answer 285

- Systemic = ANA and RF negative - Polyarticular = older children may be RF positive (seropositive) - Oligoarticular = ANA positive and RF negative

Question 286

JIA | What are some complications from JIA?

Answer 286

- Chronic anterior uveitis (HLA B27) > severe visual impairment - Flexion contractures of joints - Growth failure + osteoporosis

Question 287

JIA | What is the management of JIA?

Answer 287

- NSAIDs for symptomatic relief - Intra-articular steroids for oligoarthritis - Avoid systemic steroids if possible due to growth suppression but IV methylpred if severe - DMARDs (methotrexate) + biologics (entanercept) rarely used

Question 288

TRANSIENT SYNOVITIS What is transient synovitis? What is it associated with?

Answer 288

- 'Irritable hip' caused by transient inflammation of the joint synovial membrane - Recent viral URTI, children 3–9y

Question 289

TRANSIENT SYNOVITIS What is the clinical presentation of transient synovitis? What might investigations show in transient synovitis?

Answer 289

- Limp + refusal to weight bear - Groin or hip pain - Mild low-grade fever (high fever > exclude septic arthritis) - USS = effusion but XR normal

Question 290

TRANSIENT SYNOVITIS | What is the management of transient synovitis?

Answer 290

- Primary care if = 3–9y, well, afebrile, mobile but limping and Sx <72h - Rest + analgesia at home with safety netting + review to ensure no fever + Sx resolving

Question 291

SUFE/SCFE | What is slipped upper/capital femoral epiphysis? (SUFE/SCFE)?

Answer 291

- Displacement of femoral head epiphysis postero-inferiorly along the growth plate - Boys, 10–15y, obese + growth spurt (SUFE = Secondary school)

Question 292

SUFE/SCFE | What is the clinical presentation of SUFE/SCFE?

Answer 292

- History of minor trauma - Groin, hip, thigh or knee pain + limp - Loss of internal rotation in flexion

Question 293

SUFE/SCFE What are the investigations for SUFE/SCFE? What is the management?

Answer 293

- XR first line (AP + frog-leg views) = diagnostic | - Surgery = internal fixation (pin femoral head into position)

Question 294

COMMON KNEE ISSUES What is Osgood-Schlatters disease? What is the epidemiology?

Answer 294

- Inflammation at the tibial tuberosity where the patellar ligament inserts - 10–15y sporty males (football, basketball)

Question 295

COMMON KNEE ISSUES What is the clinical presentation of Osgood-Schlatters disease? What is the management?

Answer 295

- Visible or palpable hard lesion at tibial tuberosity - Pain in anterior aspect of knee ON activity - Supportive (rest, ice, analgesia, elevation)

Question 296

``` COMMON KNEE ISSUES What is chondromalacia patellae? Who is it common in? How does it present? What is the management ```

Answer 296

- Softening of the cartilage of the patellar - Teenage girls - Pain behind patellar worse walking downstairs and at rest - Usually responds to physiotherapy

Question 297

COMMON KNEE ISSUES What is the clinical presentation of patellar tendonitis? Who is it more common in?

Answer 297

- Chronic anterior knee pain that worsens after running - Tender below patellar on examination - More common in athletic teenage boys

Question 298

COMMON KNEE ISSUES What is... i) osteochondritis dissecans? ii) patellar subluxation?

Answer 298

i) Pain after exercise with intermittent swelling + locking | ii) Medial knee pain due to lateral subluxation of the patellar, knee may give way

Question 299

GROWING PAINS | What are growing pains?

Answer 299

Diagnosis by exclusion – - Never present at start of day - No limp, systemically well, normal exam + motor milestones - No limitation on activity, intermittent but worse after vigorous activity

Question 300

OSTEOGENESIS IMPERFECTA What is osteogenesis imperfecta? What is the pathophysiology?

Answer 300

- Autosomal dominant condition leading to brittle bones + prone to fractures - Defects in type 1 collagen protein (essential for structure + function of bone, skin, tendons etc).

Question 301

OSTEOGENESIS IMPERFECTA | What is the clinical presentation of osteogenesis imperfecta?

Answer 301

- Childhood fractures following minor trauma - Bone deformities + joint hypermobility - Blue sclera in type 1 (most common, mildest) - Short stature - Deafness 2º to otosclerosis - Dental imperfections

Question 302

OSTEOGENESIS IMPERFECTA | What are some investigations for osteogenesis imperfecta?

Answer 302

- Calcium, phosphate, PTH + ALP = normal - DEXA scan for BMD - 7 types under Sillence classification (T2 = lethal)

Question 303

OSTEOGENESIS IMPERFECTA | What are some complications of osteogenesis imperfecta?

Answer 303

- Valvular prolapse + aortic dissection - Hernias - Osteoporosis

Question 304

OSTEOGENESIS IMPERFECTA | What is the management of osteogenesis imperfecta?

Answer 304

- MDT management - Vitamin D supplementation to prevent deficiency - Bisphosphonates (IV pamidronate) to increase BMD + reduce #

Question 305

ACHONDROPLASIA What causes achondroplasia? What are the genetics?

Answer 305

- Autosomal dominant, abnormal fibroblast growth factor receptor 3 (FGFR-3) gene - Homozygous is FATAL so all are heterozygous

Question 306

ACHONDROPLASIA | What is the clinical presentation of achondroplasia?

Answer 306

- Short stature from marked shortening of limbs + fingers - Large head with frontal bossing + flattened nasal bridge - 'Trident' hands + marked lumbar lordosis

Question 307

RICKETS What is rickets? What is it caused by?

Answer 307

- Softening of the bones secondary to low vitamin D levels + other minerals that leads to decreased bone mineral content but normal bone mass density

Question 308

RICKETS | What are the causes of rickets?

Answer 308

- Vitamin D deficiency = malabsorption (IBD, coeliac), lack of sunlight, CKD, cirrhosis - Inherited = hypophosphataemic rickets

Question 309

RICKETS | What is the clinical presentation of rickets?

Answer 309

- Bone pain - Poor growth + development - Bowing of legs + knock knees - Harrison sulcus at lower ribcage - Expansion of metaphyses (especially wrist)

Question 310

RICKETS | What would you expect to see on blood biochemistry in rickets?

Answer 310

- Low = vitamin D, calcium + phosphate | - Raised = ALP + PTH

Question 311

RICKETS | What would you expect to see on XR in rickets?

Answer 311

- Translucent bands = looser's zones | - Cupping, fraying of metaphyses + widened epiphyseal plate

Question 312

RICKETS | What is the management of rickets?

Answer 312

- Prevention = breastfeeding women take vitamin D | - Vitamin D + calcium supplementation for child with specialist input

Question 313

TALIPES What is talipes? What is talipes equinovarus? What is it associated with?

Answer 313

- Fixed abnormal ankle position - Inverted + plantarflexed - Oligohydramnios, cerebral palsy, spina bifida

Question 314

TALIPES | What is the management of talipes equinovarus?

Answer 314

- Ponseti method (manipulate > cast) often followed by Achilles tenotomy - Night-time braces ('boots and bars') until age 4y

Question 315

DOWN'S SYNDROME What is Down's syndrome? What are some risk factors?

Answer 315

- Trisomy 21 (3x copies of chromosome 21) | - Increasing maternal age #1 (1 in 100 by 40y, increased nondisjunction)

Question 316

DOWN'S SYNDROME | What are the causes of Down's syndrome?

Answer 316

- Nondisjunction (95%) as chromosomes do not split apart during meiosis so cell has extra C21 = trisomy on fertilisation - Robertsonian translocation (4%) = long arm of C21 translocate to C14 often - Mosaicism (1%) = cells have mixed amounts of chromosomes

Question 317

DOWN'S SYNDROME | What is the classical craniofacial appearance in Down's syndrome?

Answer 317

- Flat occiput + flat bridge of nose - Upslanting palpebral fissures - Prominent epicanthic folds - Protruding tongue, small, low-set ears - Brushfield spots in iris

Question 318

DOWN'S SYNDROME | What other anomalies can be seen in Down's syndrome?

Answer 318

- Widely separated first + second toe (sandal gap) - Hypotonia - Single transverse palmar (simian) crease - Short stature + learning difficulties

Question 319

DOWN'S SYNDROME | What are some complications of Down's syndrome?

Answer 319

- Cardiac = complete AVSD, VSD, PDA - Subfertility + hypothyroidism - Recurrent respiratory infections (otitis media > hearing impairment) - Atlanto-axial instability = risk of neck dislocation during sports - Hirschsprung's disease + duodenal atresia - Alzheimer's disease

Question 320

DOWN'S SYNDROME | What is the management of Down's syndrome?

Answer 320

- MDT = paediatrician, audiologist, PT/OT/SALT, educational needs

Question 321

PATAU'S SYNDROME What is Patau's syndrome? What are some key features?

Answer 321

- Trisomy 13 - Microcephaly, small eyes, polydactyly, cleft lip/palate - Palate = Patau

Question 322

EDWARD'S SYNDROME What is Edward's syndrome? What are some key features?

Answer 322

- Trisomy 18 | - Micrognathia, low-set ears, rocker-bottom feet + overlapping fingers

Question 323

FRAGILE X SYNDROME What causes fragile X syndrome? How is it inherited? How does this differ based on the sex?

Answer 323

- Mutation in fragile X mental retardation 1 (FMR1) gene on X chromosome > trinucleotide expansion of CGG >200 - X-linked dominant - Females can vary in how much affected due to second X chromosome

Question 324

FRAGILE X SYNDROME | What are some cognitive features of fragile X syndrome?

Answer 324

- Autism = speech delay (echolalia), social anxiety + coping mechanisms (hand biting) - Learning difficulties - Epilepsy

Question 325

FRAGILE X SYNDROME | What are some physical features of fragile X syndrome?

Answer 325

- Long narrow face + large ears - Large testicles after puberty - Hypermobile joints (esp. hands) - Hypotonia

Question 326

TURNER'S SYNDROME What is Turner's syndrome? How is it usually diagnosed?

Answer 326

- Lack of a second X chromosome in a female leading to 45, XO - Karyotyping

Question 327

TURNER'S SYNDROME | What is the clinical presentation of Turner's syndrome?

Answer 327

- Short stature, webbed neck, shield chest + widely spaced nipples (classic) - Hypergonadotropic hypogonadism = primary amenorrhoea + delayed puberty - Multiple naevi

Question 328

TURNER'S SYNDROME | What are some complications of Turner's syndrome?

Answer 328

- Cardiac = bicuspid aortic valve, coarctation of aorta, CVD - Renal = horseshoe kidney - More susceptible to X-linked recessive conditions - Hypothyroidism - Recurrent otitis media

Question 329

TURNER'S SYNDROME | What is the management of Turner's syndrome?

Answer 329

- GH therapy to prevent short stature | - Oestrogen replacement for secondary sexual characteristics

Question 330

DUCHENNE'S | What is Duchenne's muscular dystrophy?

Answer 330

- X-linked recessive gene deletion for dystrophin

Question 331

DUCHENNE'S | What is the clinical presentation of Duchenne's muscular dystrophy?

Answer 331

- Proximal muscle weakness from 5y - Delayed milestones - Waddling gait - Gower sign +ve (uses arms to stand up from squat) - Calf pseudohypertrophy (replaced by fat + fibrous tissue)

Question 332

DUCHENNE'S | What are some complications of Duchenne's muscular dystrophy?

Answer 332

- Immobility by age 12 | - Dilated cardiomyopathy + respiratory involvement

Question 333

DUCHENNE'S | What are some investigations for Duchenne's muscular dystrophy?

Answer 333

- Creatinine kinase markedly raised | - Genetic testing to confirm

Question 334

DUCHENNE'S What is another type of muscular dystrophy very similar to Duchenne's? How does it differ?

Answer 334

- Becker's = some functional dystrophin produced | - Features similar but clinically progresses slower

Question 335

KLINEFELTER SYNDROME What is Klinefelter syndrome? How is it diagnosed?

Answer 335

- When a male has an additional X chromosome, making 47XXY | - Karyotyping

Question 336

KLINEFELTER SYNDROME | What is the clinical presentation of Klinefelter syndrome?

Answer 336

- Taller than average - Small testicles + infertility - Hypergonadotropic hypogonadism = delayed puberty (no 2º sexual features) - Gynaecomastia = increased risk of breast cancer

Question 337

KLINEFELTER SYNDROME | What is the medical management of Klinefelter syndrome?

Answer 337

- Testosterone for 2º sexual characteristics

Question 338

PRADER-WILLI SYNDROME | What is Prader-Willi syndrome?

Answer 338

- Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy

Question 339

PRADER-WILLI SYNDROME | What is the clinical presentation of Prader-Willi syndrome?

Answer 339

- Hypotonia during infancy - Short stature, hypogonadism + infertility - Insatiable hunger = hyperphagia + obesity (marked levels of ghrelin) - Strabismus

Question 340

PRADER-WILLI SYNDROME | What is the management of Prader-Willi syndrome?

Answer 340

- GH to improve muscle development + body composition | - Dietician input

Question 341

ANGELMAN'S SYNDROME What is Angelman's syndrome? What is it caused by?

Answer 341

- Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy

Question 342

ANGELMAN'S SYNDROME | What is the clinical presentation of Angelman's syndrome?

Answer 342

- "Happy puppet" = unprovoked laughing, hand flapping - Fascination with water - Widely spaced teeth, microcephaly

Question 343

NOONAN'S SYNDROME What is Noonan's syndrome? How does it present?

Answer 343

- Autosomal dominant, normal karyotype - Short stature, webbed neck, widely spaced nipples (male Turner's) - Low set ears - Ptosis - Hypertelorism (wide space between eyes)

Question 344

NOONAN'S SYNDROME | What are some complications of Noonan's syndrome?

Answer 344

- CHD = pulmonary valve stenosis - Cryptorchidism - LDs - Bleeding disorders (XI deficient)

Question 345

WILLIAM'S SYNDROME What is William's syndrome? How does it present?

Answer 345

- Microdeletion on chromosome 7 - Very friendly + sociable personality - Elfin-like facies = big smile, widely spaced teeth - Starburst eyes (star-pattern on iris) - Short stature

Question 346

WILLIAM'S SYNDROME | What are some complications of William's syndrome?

Answer 346

- Supravalvular aortic stenosis | - Transient neonatal hypercalcaemia

Question 347

MARFAN'S SYNDROME | What is Marfan's syndrome?

Answer 347

- Autosomal dominant connective tissue disorder caused by fibrillin-1 deficiency

Question 348

MARFAN'S SYNDROME | What is the clinical presentation of Marfan's?

Answer 348

- Tall stature - High-arched palate - Arachnodactyly (long fingers) - Pectus excavatum + pes planus - Kyphoscoliosis

Question 349

MARFAN'S SYNDROME | What are some complications of Marfan's?

Answer 349

- Cardio = dilation of aortic sinuses > aortic aneurysm, dissection, AR or mitral valve prolapse - Resp = repeated pneumothoracies - Ophthalm = upwards lens dislocation - Neuro = dural ectasia

Question 350

MARFAN'S SYNDROME | What is the management of Marfan's?

Answer 350

- Regular echocardiograms | - Beta-blocker/ACEi therapy

Question 351

EHLERS-DANLOS | What is Ehlers-Danlos syndrome?

Answer 351

- AD connective tissue disorder due to elastin defect affecting type 3 collagen

Question 352

EHLERS-DANLOS | How does Ehlers-Danlos syndrome present?

Answer 352

- Elastic, fragile skin - Joint hypermobility - Excessive bruising - Brain aneurysms (SAH)

Question 353

DEVELOPMENTAL STAGES | How do the developmental milestones correspond with prematurity?

Answer 353

- Adjust for prematurity up to 2 years

Question 354

DEVELOPMENTAL STAGES | What are the 4 domains of development?

Answer 354

- Gross motor - Fine motor/vision - Speech and language - Social

Question 355

DEVELOPMENTAL STAGES In terms of gross motor development, what would you expect at... i) 6w? ii) 6m? iii) 9m?

Answer 355

i) Raises head when on tummy, stabilises head when raised to sitting ii) sits without support, rounded back, rolls tummy to back (vice versa later) iii) Straight back sitting (8m), stands holding on

Question 356

DEVELOPMENTAL STAGES In terms of gross motor development, what would you expect at... i) 12m? ii) 18m? iii) 2y?

Answer 356

i) Walks alone (18m = limit age ?Duchenne's, ?CP, ?hip) ii) Runs, jumps iii) Runs tiptoe, walks upstairs (2 feet)

Question 357

DEVELOPMENTAL STAGES In terms of gross motor development, what would you expect at... i) 2.5y? ii) 3y? iii) 4y?

Answer 357

i) Kicks ball ii) Hops on one foot, walks upstairs (1 foot per step) and downstairs (2 feet) iii) Walks stairs in adult manner

Question 358

DEVELOPMENTAL STAGES In terms of fine motor/vision development, what would you expect at... i) 6w? ii) 6m? iii) 9m?

Answer 358

i) Fix and follow ii) Palmar grasp, transfer hand-hand iii) Inferior pincer grip, points with finger

Question 359

DEVELOPMENTAL STAGES In terms of fine motor/vision development, what would you expect at... i) 12m? ii) 18m? iii) 2y?

Answer 359

i) Good pincer grip, casting bricks (disappear by 18m), build 2 brick tower, hand preference <12m = abnormal ii) Scribbles crayon, builds 4 brick tower iii) Draws vertical line, 8 brick tower, turns several pages of book at time

Question 360

DEVELOPMENTAL STAGES In terms of fine motor/vision development, what would you expect for a... i) 2.5y? ii) 3y? iii) 4y?

Answer 360

i) Draws horizontal line ii) Draws circle, bricks = bridge/train iii) Cross + 12 brick tower, square (4.5y), triangle (5y)

Question 361

DEVELOPMENTAL STAGES In terms of fine speech + language development, what would you expect at... i) 6w? ii) 6m? iii) 9m?

Answer 361

i) Startles at loud noise ii) Turns head to sounds, understands "bye bye + no", monosyllabic babbles iii) Responds to name, imitates adult sounds "mama, dada"

Question 362

DEVELOPMENTAL STAGES In terms of fine speech + language development, what would you expect at... i) 12m? ii) 18m? iii) 2y?

Answer 362

i) Understands nouns "where's mummy", 3 words ii) Understands nouns "show me the ***", points to own body parts (15m) and then doll (18m), 6 words iii) Understands verbs "what do you DRAW with?", combines 2 words

Question 363

DEVELOPMENTAL STAGES In terms of fine speech + language development, what would you expect at... i) 2.5y? ii) 3y? iii) 3.5y? iv) 4y?

Answer 363

i) Understands prepositions "put the cat on the bowl" ii) Understands adjectives "which one is red" iii) Understands negatives "which one is NOT an animal?" + comparatives "which one is bigger" iv) Understands complex instructions "before put x in y, give z to mummy"

Question 364

DEVELOPMENTAL STAGES In terms of social development, what would you expect at... i) 6w? ii) 6m? iii) 9m?

Answer 364

i) Social smile (limit 10w > refer as vision issue) ii) Puts objects to mouth, shakes rattle iii) Stranger fear until 2y, holds + bites food

Question 365

DEVELOPMENTAL STAGES In terms of social development, what would you expect at... i) 12m? ii) 18m? iii) 2y

Answer 365

i) Waves bye, hand clapping, drinks from beaker with lid ii) Imitates every day activities iii) Eats skilfully with spoon, doesn't spill cup, parallel play

Question 366

DEVELOPMENTAL STAGES In terms of social development, what would you expect at... i) 3y? ii) 4y?

Answer 366

i) Shares toys, plays alone without parents, eats with fork + spoon, bowel control ii) Concern for others if hurt, has best friend, plays with others, bladder control, imaginative play, handles knife (5y)

Question 367

DEVELOPMENTAL STAGES | What are the primitive reflexes?

Answer 367

- Moro (startle) - Grasp (palmar/plantar) - Rooting - Stepping

Question 368

DEVELOPMENTAL STAGES Explain the following primitive reflexes... i) moro ii) grasp iii) rooting iv) stepping

Answer 368

i) Head extension > extends then flexes limbs, stops 3–4m ii) Digit flexion when touch sole/palm, stops 4–5m iii) Head turns to stimulus touching mouth, breastfeeding, stops 4m iv) Step movement if dorsum of foot touches surface, stops 2m

Question 369

DEVELOPMENTAL STAGES | What are the postural reflexes?

Answer 369

- Parachute - Labyrinthine - Lateral propping

Question 370

DEVELOPMENTAL STAGES Explain the following postural reflexes... i) parachute ii) labyrinthine iii) lateral propping

Answer 370

i) Baby prone, lower to surface, arms + legs extend to protect ii) Head moves opposite direction to which body is tilted iii) Arm extends to side child falls from sitting to protect

Question 371

DEVELOPMENTAL STAGES | What is the relevance of the primitive and postural reflexes?

Answer 371

- Persistence of primitive reflexes + lack of development of postural reflexes is the hallmark of UMN abnormality in the infant (cerebral palsy)

Question 372

DEVELOPMENTAL DELAY | In terms of developmental delay, what are the 3 broad aetiological categories?

Answer 372

- Prenatal = genetic (Down's, fragile X), TORCH, teratogens - Perinatal = prematurity (IVH), birth asphyxia (HIE), jaundice > kernicterus - Postnatal = meningitis, anoxia, head trauma

Question 373

DEVELOPMENTAL DELAY What is global developmental delay? When does it normally present? What are some differentials?

Answer 373

- Slow development in all developmental domains - Presents in first 2y of life - Down's, fragile X, foetal alcohol syndrome

Question 374

DEVELOPMENTAL DELAY What is abnormal gross motor development? What are some causes?

Answer 374

- Slow development in gross motor domain | - Cerebral palsy, spina bifida + visual impairment

Question 375

DEVELOPMENTAL DELAY What is abnormal fine motor development? What are some causes?

Answer 375

- Slow development in fine motor domain | - Cerebral palsy, muscular dystrophy, visual impairment

Question 376

DEVELOPMENTAL DELAY What is abnormal speech + language development? What are some causes?

Answer 376

- Slow development in speech + language domain | - DDx = environment (language, siblings talk), hearing impairment, autism, cleft palate

Question 377

DEVELOPMENTAL DELAY What is social delay? What are some causes?

Answer 377

- Slow development in social domain | - Autism, emotional/social neglect

Question 378

CEREBRAL PALSY What is cerebral palsy? How does it progress?

Answer 378

- Permanent disorder of movement + posture due to a non-progressive lesion of motor pathways in the developing brain

Question 379

CEREBRAL PALSY | What are the causes of cerebral palsy?

Answer 379

- Antenatal (80%) = congenital malformations or infections (CMV, rubella) - Intrapartum (10%) = hypoxic-ischaemic injury (birth asphyxia) - Postnatal (10%) = IV haemorrhage, meningitis, trauma

Question 380

CEREBRAL PALSY | What are some early features of cerebral palsy?

Answer 380

- Abnormal tone in early infancy + abnormal gait - Primitive reflexes beyond 6m - Delayed motor milestones - Hand preference <12m

Question 381

CEREBRAL PALSY | What are some non-motor presentations of cerebral palsy?

Answer 381

- Learning difficulties - Epilepsy - Squints - Hearing impairment

Question 382

CEREBRAL PALSY | What are the 4 broad types of cerebral palsy?

Answer 382

- Spastic (70%) - Ataxic (10%) - Dyskinetic (athetoid, 10%) - Mixed (10%)

Question 383

CEREBRAL PALSY What is affected in spastic cerebral palsy? What are the main features of spastic cerebral palsy?

Answer 383

- UMN pyramidal pathways damaged so UMN signs - Clasp knife spasticity (velocity-dependent) - Brisk tendon reflexes + extensor plantars (+ Babinski)

Question 384

CEREBRAL PALSY | What are the 3 subtypes of spastic cerebral palsy and how they differentiate?

Answer 384

- Hemiplegic = arm > leg, early hand preference <12m - Quadriplegic = all 4 limbs, legs >arms, seizures, most severe - Diplegic = all 4 limbs but legs affected worse, scissor walking

Question 385

CEREBRAL PALSY | What are the likely causes of the 3 subtypes of spastic cerebral palsy?

Answer 385

- Hemiplegic = presents 4–12m, normal birth with no HIE - Quadriplegic = Hx of HIE - Diplegia = periventricular brain damage (linked with preterm)

Question 386

CEREBRAL PALSY What is ataxic cerebral palsy? What is the likely cause?

Answer 386

- Damage to cerebellum so cerebellar signs | - Most genetically determined, can be acquired brain injury

Question 387

CEREBRAL PALSY What is dyskinetic cerebral palsy? What are the features?

Answer 387

- Intellect relatively unimpaired as basal ganglia affected - Athetoid movements - Oro-motor problems - Chorea + dystonia

Question 388

CEREBRAL PALSY What is athetoid movements? What is dyskinetic cerebral palsy associated with?

Answer 388

- Slow, writhing movements of fingers | - Kernicterus + HIE

Question 389

CEREBRAL PALSY | What are the investigations of cerebral palsy?

Answer 389

- Clinical Dx - Functional ability judged by Gross Motor Function Classification System (GMFCS) - MRI head for ?cause but not needed to Dx

Question 390

CEREBRAL PALSY | What is the management of cerebral palsy?

Answer 390

- MDT = physio/OT, SALT | - Spasticity = PO/IT baclofen, botulinum toxin, PO diazepam, surgery

Question 391

STRABISMUS What is strabismus? Is it normal?

Answer 391

- Misalignment of visual axis (squint) | - Transient neonatal misalignments common in first few months when looking at near objects

Question 392

STRABISMUS What are the 2 divisions of strabismus? What are the causes?

Answer 392

- Concomitant (common) = often refractive error (hypermetropia or myopia) - Paralytic (rare) = paralysis in extra-ocular muscles (?SOL, ?retinoblastoma)

Question 393

STRABISMUS | What is the difference between a manifest and latent strabismus?

Answer 393

- Manifest = present when views a target binocularly | - Latent = binocular vision interrupted

Question 394

STRABISMUS What are the different types of manifest? How does this compare to latent?

Answer 394

- Esotropia = inward moving (cross-eyed) - Exotropia = outward moving - Hypertropia = upward moving - Hypotropia = downward moving - Latent is same but -phoria not -tropia (esophoria etc)

Question 395

STRABISMUS | What are some investigations for strabismus?

Answer 395

- (Single) cover test for manifest/tropias - Cover-uncover (alternate cover) test for latent/phorias - Corneal light reflex test - Important to assess visual acuity + ocular movements

Question 396

STRABISMUS | Explain the cover test

Answer 396

- Cover eye + observe the other eye for a shift in fixation | - Direction of shift indicates the type of tropia

Question 397

STRABISMUS | Explain the cover-uncover test

Answer 397

- Occlude eye + then quickly uncover, observing the occluded eye for refixation movement - A phoria will shift back to being straight, direction is opposite to the defect (shifts lateral = esophoria)

Question 398

STRABISMUS | Explain the corneal light reflex test

Answer 398

- Shine a pen torch in the eyes | - Reflection of light should appear in the same position in both eyes

Question 399

STRABISMUS | What is a key complication of strabismus?

Answer 399

- Amblyopia = permanent reduction of visual acuity in an eye that has not received a clear image

Question 400

STRABISMUS | What is the management of strabismus?

Answer 400

Secondary care referral – - Correct refractive error with glasses - Amblyopia = occlude 'good' eye with eye patches - Botox injections to paralyse muscle responsible - Surgical = either strengthening (resection) or weakening (recession)

Question 401

HEARING | What hearing tests are offered in children at various ages?

Answer 401

- Distraction testing (6–9m), 2 staff - Visual reinforcement audiometry (10–18m) = illumination of toys - Performance testing >2y = action when hear a noise - Speech discrimination tests >2.5y = toy test - Pure tone audiometry at school entry from 4y

Question 402

FEBRILE CONVULSIONS What is a febrile convulsion? What is the epidemiology? When is it seen?

Answer 402

- Seizures provoked by a fever in otherwise normal children - 6m–5y - Early in viral infection as temperature rises rapidly, classically roseola infantum

Question 403

FEBRILE CONVULSIONS | What are the three main types and their differences?

Answer 403

- Simple = generalised seizure, <15m, no recurrence within 24h, recovery within 1h - Complex = focal, 15–30m, may recur within 24h - Febrile status epilepticus = seizure >30m

Question 404

FEBRILE CONVULSIONS | What are some complications of febrile convulsions?

Answer 404

- Do not typically have lasting damage - 1 in 3 have another - Epilepsy more common in complex feb con

Question 405

FEBRILE CONVULSIONS | What is the general management of febrile convulsions?

Answer 405

- Admit to paeds for observation if first seizure or complex

Question 406

FEBRILE CONVULSIONS | What is the post-admission management for febrile convulsions?

Answer 406

Parental education - Call ambulance if lasts >5 minutes - Teach how to use PR diazepam/buccal midazolam - Regular antipyretics do not reduce chances

Question 407

EPILEPSY | What are 4 epilepsy syndromes seen in children?

Answer 407

- Infantile spasms (West's syndrome) - Lennox-Gastaut syndrome - Juvenile myoclonic epilepsy - Benign Rolandic epilepsy

Question 408

EPILEPSY What is the epidemiology of infantile spasms? What is the management?

Answer 408

- 4–8m, M>F, often 2º to neuro abnormality e.g., tuberous sclerosis - First line = vigabatrin, may use steroids

Question 409

EPILEPSY | What are the 3 components to infantile spasms?

Answer 409

- Salaam attacks = flexion of head/trunk/arms followed by extension of arms for 1–2s, can repeat up to 50 times - Progressive mental handicap - EEG shows hypsarrhythmia

Question 410

EPILEPSY What is Lennox-Gastaut syndrome? Epidemiology? How does it present? EEG? Management?

Answer 410

- Can be extension of infantile spasms, 1-5y - Atypical absences, falls, jerks + majority have mod-severe mental handicap - EEG shows slow spike, ketogenic diet may help

Question 411

EPILEPSY Who is juvenile myoclonic epilepsy more common in? How does it present? Management?

Answer 411

- Teens, F>M - Infrequent generalised seizures (often morning or sleep deprived), daytime absences, sudden shock-like myoclonic seizures (can happen before seizures) - Good response to valproate

Question 412

EPILEPSY How does benign rolandic epilepsy present? Epidemiology?

Answer 412

- Paraesthesia (unilateral face) on waking up | - M>F

Question 413

'FUNNY TURNS' What is a reflex anoxic seizure? What is the cause?

Answer 413

- (Pre-)syncopal episode in response to pain or emotional stimuli - Thought to be caused by neurally-mediated transient asystole due to overstimulation of vagus nerve

Question 414

'FUNNY TURNS' What is the clinical presentation of reflex anoxic seizure? What is the management?

Answer 414

- Child goes very pale > falls to floor > may have brief generalised seizure > rapid recovery - Reassure parents

Question 415

'FUNNY TURNS' What is a breath holding attack? How might it present? What is the management?

Answer 415

- Episodes where young children hold their breath during periods of crying to the point that they faint - May present with cyanosis + jerking of limbs but rapid recovery - Reassure parents

Question 416

DISORDERS Name 2 neurocutaneous disorders Mode of inheritance?

Answer 416

- Neurofibromatosis (type 1 + 2) + tuberous sclerosis | - AD

Question 417

NEUROFIBROMATOSIS | What is the clinical presentation of neurofibromatosis 1?

Answer 417

- No intellectual problems - >5 café-au-lait spots - Axillary/groin freckling - Pheochromocytoma - Ocular hamartomas = iris - Peripheral neurofibromas

Question 418

NEUROFIBROMATOSIS | What is the clinical presentation of neurofibromatosis 2?

Answer 418

- Hearing problems with no skin involvement - Bilateral acoustic neuromas - Multiple intracranial schwannomas, meningiomas

Question 419

TUBEROUS SCLEROSIS | What are the cutaneous features of tuberous sclerosis?

Answer 419

- Hypopigmented 'ash-leaf' spots which fluoresce under UV light - Roughened (Shagreen) patches of skin over lumbar spine - Angiofibromas (butterfly distribution over nose) - Café-au-lait spots uncommonly found

Question 420

TUBEROUS SCLEROSIS | What are some other features of tuberous sclerosis?

Answer 420

- Neuro = epilepsy (infantile spasms or partial), developmental delay + intellectual impairment - Ocular hamartoma = retinal - Polycystic kidneys

Question 421

NEURAL TUBE DEFECTS | What are neural tube defects associated with?

Answer 421

- Insufficient folic acid - Sibling with spina bifida - AEDs

Question 422

NEURAL TUBE DEFECTS | What are the three types of spina bifida?

Answer 422

- Spina bifida = failure of fusion of vertebral arch, no herniation of spinal cord - Meningocele = failure of fusion of vertebral arch, herniation of meningeal sac with ONLY CSF - Myelomeningocele = failure of fusion of vertebral arch, herniation of meningeal sac with CSF AND spinal cord

Question 423

NEURAL TUBE DEFECTS What is spina bifida occulta? Presentation? Management?

Answer 423

- Failure of fusion of the vertebral arch, often incidental XR finding - Site may have identifiable birthmark, lipoma or hair patch (lumbar) - Neurosurgery

Question 424

NEURAL TUBE DEFECTS | How might spina bifida present?

Answer 424

- Identifiable birth mark, lipoma or hair patch (lumbar area)

Question 425

NEURAL TUBE DEFECTS | What are some complications of spina bifida?

Answer 425

- Motor/sensory deficits - Neurogenic bladder/bowel - Hydrocephalus - Seizures

Question 426

NEURAL TUBE DEFECTS | What is the management of spina bifida?

Answer 426

- Folic acid prophylaxis (0.4mg normal, 5mg high risk) | - Primary neurosurgical/orthopaedic repair

Question 427

CONGENITAL HYPOTHYROIDISM | What is the epidemiology of congenital hypothyroidism?

Answer 427

- Affects 1 in 3000 births + causes severe neurological dysfunction

Question 428

CONGENITAL HYPOTHYROIDISM | What are the three main causes of congenital hypothyroidism?

Answer 428

- Worldwide = iodine deficiency - UK = failure in thyroid development or migration - Consanguineous families = dyshormonogenesis (inborn error of thyroid hormone synthesis) > goitre due to TSH stimulation

Question 429

CONGENITAL HYPOTHYROIDISM | Explain the various types of failure in thyroid development or migration seen in the UK

Answer 429

- Agenesis - Small lump at base of tongue (lingual thyroid) - Small lump somewhere in path of migration (dysgenesis)

Question 430

CONGENITAL HYPOTHYROIDISM | What is the clinical presentation of congenital hypothyroidism?

Answer 430

- Prolonged neonatal jaundice - Puffy face, macroglossia + hypotonia - Delayed mental + physical milestones - Failure to thrive + feeding problems

Question 431

CONGENITAL HYPOTHYROIDISM How would you investigate congenital hypothyroidism? What is the management of congenital hypothyroidism?

Answer 431

- Picked up on Guthrie neonatal bloodspot test - TFTs = high TSH, ?USS neck or thyroid isotope scan - Lifelong levothyroxine to prevent neurological complications

Question 432

BRAIN TUMOURS What is the site of brain tumours? What is the most common cause? What is another cause seen in paeds and how does it present?

Answer 432

- 60% infratentorial, almost always primary (unlike adults) - Astrocytoma = benign > glioblastoma multiforme - Medulloblastoma = midline of posterior fossa, may have spinal mets, gives cerebellar signs

Question 433

NEUROBLASTOMA | What is a neuroblastoma? Epidemiology?

Answer 433

- Arise from neural crest tissue in the adrenal medulla + sympathetic nervous system, most common <5y

Question 434

NEUROBLASTOMA | What is the clinical presentation of neuroblastoma?

Answer 434

- Abdominal pain + hepatomegaly - Weight loss, pallor, bone pain - Paraplegia, proptosis

Question 435

NEUROBLASTOMA | How does the abdominal mass present?

Answer 435

- Often crosses midline + envelopes major vessels + lymph nodes - Can grow very large - Classically abdo primary is of adrenal origin

Question 436

NEUROBLASTOMA | What are the investigations for neuroblastoma?

Answer 436

- Raised urinary catecholamine metabolites levels - Confirmatory biopsy + bone marrow sampling - Metastatic check = MIBG scan

Question 437

NEUROBLASTOMA What is the management of neuroblastoma? What is the prognosis?

Answer 437

- Surgical removal or chemo + stem cell therapy if metastatic - Good prognosis but metastatic relapse rate high

Question 438

WILM'S TUMOUR What is a Wilm's tumour? Epidemiology? Risk factor?

Answer 438

- Nephroblastoma that originates from embryonal renal tissue, <5y - FHx = Wilm's tumour susceptibility gene

Question 439

WILM'S TUMOUR | What is the clinical presentation of a Wilm's tumour?

Answer 439

- Large abdominal mass found incidentally that does not cross midline = #1 - May have painless haematuria, flank pain, fever

Question 440

WILM'S TUMOUR What are the investigations for Wilm's tumour? How do you manage it?

Answer 440

- USS + CT CAP showing intrinsic renal mass distorting the normal structure, biopsy - Radical nephrectomy, post-op chemo

Question 441

SOFT TISSUE SARCOMAS What is the most common cause of soft tissue sarcomas in paediatrics? How do they present?

Answer 441

- Most common is rhabdomyosarcoma - Head + neck common site = proptosis, nasal obstruction, epistaxis - GU = dysuria, urinary obstruction, scrotal mass, PV bloody discharge

Question 442

SOFT TISSUE SARCOMAS | What is the management of soft tissue sarcomas?

Answer 442

- Biopsy + full radiological assessment | - Multimodality = chemo, radiotherapy + surgery

Question 443

RETINOBLASTOMA | What is a retinoblastoma?

Answer 443

- Malignant tumour of retinal cells which can lead to severe visual impairment

Question 444

RETINOBLASTOMA What is a genetic cause of retinoblastoma? How might it present?

Answer 444

- Retinoblastoma susceptibility gene on chromosome 13 = AD | - All bilateral tumours are hereditary, 20% of unilateral are

Question 445

RETINOBLASTOMA | What is the clinical presentation of retinoblastoma?

Answer 445

- Loss of red-reflex, replaced with white (leukocoria) = #1 | - Strabismus + decreased visual acuity

Question 446

RETINOBLASTOMA | What is the management of retinoblastoma?

Answer 446

- Screened for in NIPE, MRI + examine under anaesthetic, biopsy avoided - Can trial, chemo, radiotherapy or if severe enucleation

Question 447

LIVER TUMOURS What liver tumours are seen in paediatrics? How might they present?

Answer 447

- Mostly hepatoblastoma or hepatocellular carcinoma | - Abdo distension or mass common, pain + jaundice rare

Question 448

LIVER TUMOURS | How are liver tumours managed?

Answer 448

- Elevated AFP, biopsy | - Chemo, surgery or liver transplantation if inoperable

Question 449

LCH | What is Langerhans cell histiocytosis (LCH)?

Answer 449

- Abnormal proliferation of histiocytes | - Disorder of dendritic (antigen presenting) cells but as aggressive + responds to chemo > oncology Mx

Question 450

LCH | What is the clinical presentation of LCH?

Answer 450

- Bone pain = skull or proximal femur - Cutaneous nodules - Recurrent otitis media/mastoiditis - Systemic =aggressive, seborrhoeic rash

Question 451

LCH | What are some investigation findings and the management of LCH?

Answer 451

- XR = 'punched out' osteolytic lesion, often skull - Birbeck (tennis-racket shaped) granules on electron microscopy - Systemic responds to chemo

Question 452

PROTEINURIA | What are some causes of proteinuria?

Answer 452

- Orthostatic = #1 - Transient = febrile illness, after exercise = no Ix - Nephrotic syndrome - HTN

Question 453

HSP What is Henoch-Schönlein purpura (HSP)? What is the epidemiology?

Answer 453

- IgA mediated small vessel vasculitis (Berger's disease) | - 3-10y, M>F, preceded by URTI or gastroenteritis

Question 454

HSP | What is the clinical presentation of HSP?

Answer 454

Four key features - Palpable purpuric rash on extensor surfaces of lower limbs + buttocks - Polyarthritis - Abdominal pain - Renal involvement = IgA nephropathy (haematuria, proteinuria)

Question 455

HSP How do you diagnose HSP? What is the management of HSP? What is the prognosis?

Answer 455

- Clinical Dx but if concerns re non-blanching rash = Ix - Admit for supportive = analgesia - Usually self-limiting, 1/3rd relapse

Question 456

HUS | What is the classic features of haemolytic uraemic syndrome (HUS)?

Answer 456

- Microangiopathic haemolytic anaemia - AKI - Thrombocytopaenia

Question 457

HUS What causes HUS? Where might they get this from?

Answer 457

- Mostly E. Coli 0157 producing Shiga toxin, can be Shigella - Recently gone to petting farm

Question 458

HUS | What is the clinical presentation of HUS?

Answer 458

- Prodrome of bloody diarrhoea + vomiting - Abdominal pain + low grade pyrexia - Urine = oliguria/anuria, haematuria

Question 459

HUS | What are some investigations for HUS?

Answer 459

- FBC (anaemia, thrombocytopenia) - Reticulocytes + schistocytes on blood film - U+Es reveal AKI - Stool culture for E. Coli 0157

Question 460

HUS | What is the management of HUS?

Answer 460

- Supportive = fluids, may need dialysis - May have plasma exchange if HUS not associated with diarrhoea - Do NOT administer Abx as can increase release of toxins

Question 461

HYPOSPADIAS What is hypospadias? What is epispadias?

Answer 461

- Urethral meatus is abnormally displaced posteriorly on the penis - Meatus displaced anteriorly on top of the penis

Question 462

HYPOSPADIAS What is the clinical presentation of hypospadias? What are some associations?

Answer 462

- Ventral urethral meatus - Hooded prepuce - Chordee (ventral or downwards curvature of the penis in more severe forms) - Associated with cryptorchidism + inguinal hernia

Question 463

HYPOSPADIAS | What is the management of hypospadias?

Answer 463

- Do NOT circumcise as foreskin often needed for later reconstructive surgery - Surgery done at 12m to correct position of meatus + straighten penis

Question 464

CRYPTORCHIDISM What is cryptorchidism? What are some risk factors?

Answer 464

- Undescended testis that has failed to reach bottom of scrotum by 3m - Prematurity, FHx, maternal smoking in pregnancy

Question 465

CRYPTORCHIDISM | What are the 3 types of cryptorchidism?

Answer 465

- Retractile (normal variant in prepubescent boys) - Palpable - Impalpable

Question 466

CRYPTORCHIDISM | What is retractile cryptorchidism?

Answer 466

- Testis manipulated into scrotum without tension but then retracts when released as pulled by cremaster muscle

Question 467

CRYPTORCHIDISM What is palpable cryptorchidism? What is impalpable cryptorchidism?

Answer 467

- Testis palpated in groin but cannot be manipulated into scrotum - No palpable testis

Question 468

CRYPTORCHIDISM | What are some investigations for cryptorchidism?

Answer 468

- USS in bilateral impalpable testes to verify internal pelvic organs - Laparoscopy = Ix of choice for impalpable

Question 469

CRYPTORCHIDISM | What are some complications of cryptorchidism?

Answer 469

- Fertility = testis needs to be below body temp for spermatogenesis - Malignancy = risk of seminoma - Cosmetic appearance - Risk of testicular torsion

Question 470

CRYPTORCHIDISM | What is the management of cryptorchidism that has not resolved?

Answer 470

- Unilateral = monitor 3m then refer to paeds so seen by 6m - Bilateral = urgent senior review within 24h - Orchidopexy = surgical placement of testis in scrotum 6–18m

Question 471

UTI | What are some causes of UTI in paeds?

Answer 471

- #1 = E. coli - Proteus (M>F, predisposes to phosphate urinary stones) - Pseudomonas (may indicate structural abnormality)

Question 472

UTI | What is a complication of E. Coli which might make it difficult to treat?

Answer 472

- Can become resistant to penicillin by producing beta-lactamase (ESBL E. Coli)

Question 473

UTI | What are some risk factors for UTI?

Answer 473

- Incomplete bladder emptying (constipation, infrequent voiding) - Vesico-ureteric reflux - Poor toilet hygiene (e.g., not wiping front>back in girls)

Question 474

UTI | What is the clinical presentation of UTI?

Answer 474

- Infants (non-specific) = poor feeding, vomiting, irritability, fever, D+V - Younger/older children present similarly to adults

Question 475

UTI | What are some investigations for UTI?

Answer 475

- Urinalysis for nitrites, leukocytes esterase | - Urine sample MC&S = MSU clean catch #1 if not urine collection pads

Question 476

UTI | In terms of performing ultrasounds scans in UTI, what are the guidelines?

Answer 476

- Within 6w = 1st UTI and <6m but responds well to Rx within 48h - During illness = recurrent or atypical bacteria

Question 477

UTI | When would you consider admission in UTI?

Answer 477

- <3m - Systemically unwell - Significant risk factors for ?septic screen

Question 478

UTI | What is the management of UTI?

Answer 478

- >3m upper UTI = ?admission for IV if not PO co-amox 7–10d - >3m lower UTI = PO trimethoprim, nitrofurantoin, follow-up if still unwell after 24–48h - ESBL E. coli = meropenem

Question 479

UTI What is a recurrent UTI? What are the complications?

Answer 479

- ≥2 UTIs with at least 1 with systemic Sx (or ≥3 without) | - Renal scarring > predisposes to HTN + CKD

Question 480

UTI What investigations would you consider in recurrent UTI? What is the criteria?

Answer 480

- USS - DMSA scan (renal scarring 4-6m) - Micturating cystourethrogram (<6m) if FHx of vesico-ureteric reflux, dilatation of ureter on USS, poor urinary flow

Question 481

UTI | What is vesico-ureteric reflux?

Answer 481

- Abnormal backflow of urine from bladder into ureter > kidney as ureters displaced laterally, entering bladder more perpendicular. - This means shortened intramural course of ureter = vesicoureteric junction cannot function adequately

Question 482

UTI How does vesico-ureteric reflux present? How do you investigate it? How do you manage it?

Answer 482

- Hydronephrosis, recurrent UTIs, reflux nephropathy - MCUG, DMSA for scarring - Avoid constipation, prophylactic Abx, ?surgery

Question 483

UT ABNORMALITIES | Name 5 urinary tract abnormalities

Answer 483

- Renal agenesis - Multicystic dysplastic kidney - Polycystic kidney disease - Pelvic/horseshoe kidney - Posterior urethral valves = bilateral hydronephrosis

Question 484

UT ABNORMALITIES What is renal agenesis? What is a serious complication and how does that present?

Answer 484

- Absence of both kidneys > severe oligohydramnios > Potter syndrome, pulmonary hypoplasia + limb deformities e.g., talipes - Low-set ears, beaked nose, prominent epicanthic folds + downward slant to eyes

Question 485

UT ABNORMALITIES | How does Potter syndrome present?

Answer 485

- Low-set ears, beaked nose + downward slant to eyes

Question 486

UT ABNORMALITIES | What is multicystic dysplastic kidney?

Answer 486

- Non-functioning structure with large fluid-filled cysts with no renal tissue or connection with bladder

Question 487

CIRCUMCISION What is phimosis? What is paraphimosis?

Answer 487

- Inability to retract foreskin > physiological at birth (ballooning on urination) - Can be retracted but need adequate analgesia

Question 488

CIRCUMCISION What is pathological phimosis? What is it caused by? Management?

Answer 488

- Whitish scarring on foreskin <5y - Localised skin disease balanitis xerotica obliterans (BXO), can also involve glans penis + can cause urethral meatal stenosis - Circumcision

Question 489

CIRCUMCISION What is recurrent balanoposthitis? How does it present? What is the management?

Answer 489

- Posthitis = inflammation of foreskin - Balanitis = inflammation of the glans penis - Single attack of redness, sometimes with purulent discharge - Responds well to warm baths + broad spectrum Abx but recurrent = circumcision

Question 490

CIRCUMCISION What are the indications for circumcision? Benefits? Caution?

Answer 490

- (Para)phimosis, recurrent balanitis, balanitis xerotica obliterans - Reduced risk of penile cancer, UTI + acquiring STIs including HIV - Exclude hypospadias as may be used in surgical repair

Question 491

ALLERGY | What is the Gell and Coombs hypersensitivity classification?

Answer 491

- Type 1 = IgE trigger mast cells + basophils to release histamines + cytokines - Type 2 = IgG/M bind to cell-surface antigens which activates immune system as considers foreign > cytotoxic - Type 3 = immune complex mediated with activation of complement/IgG - Type 4 = T-cell mediated delayed type hypersensitivity

Question 492

ALLERGY | Give an example for each type of hypersensitivity reaction

Answer 492

- T1 = Anaphylaxis, atopy - T2 = Pernicious anaemia, rheumatic fever, goodpasture's, transfusion reactions - T3 = SLE, HSP, post-strep glomerulonephritis - T4 = TB, contact dermatitis, MS

Question 493

ALLERGY | What are some investigations that can be done in allergy?

Answer 493

- Skin prick = most common, drops of diluted allergen pierced into skin + interpret size of wheals > food allergies, pollen - Skin patch = allergens placed on back on patch then removed + analysed > contact dermatitis - Radioallergosorbent test (RAST) = determines amount of IgE that reacts specifically with suspected allergens > food allergies, inhaled allergens, venom

Question 494

CMPA How is cow's milk protein allergy (CMPA) sub-typed? Epidemiology?

Answer 494

- Immediate IgE mediated (CMPA) or delayed non-IgE mediated (CMPI if mild-mod delayed reaction, less allergic Sx more GI) - Typically presents in first 3m of life in formula-fed infants

Question 495

CMPA | What is the clinical presentation of CMPA?

Answer 495

- GI = D+V, abdo pain, failure to thrive, bloating | - Allergic = urticaria, cough, wheeze, pruritus

Question 496

CMPA | What are the investigations for CMPA?

Answer 496

- IgE mediated = skin prick tests + RAST for cow's milk protein - Gold standard if doubt = elimination diet under dietician supervision

Question 497

CMPA | What is the management for CMPA in formula fed infants?

Answer 497

- Extensive hydrolysed formula (eHF) = first line if mild-mod - Amino acid-based formula = severe CMPA or no response to eHF

Question 498

CMPA | What is the management of CMPA in breastfed infants?

Answer 498

- Continue breastfeeding + eliminate cow's milk protein from maternal diet > consider calcium supplements for mother - eHF when breastfeeding stops, until 12m of age + at least for 6m

Question 499

CHILD ABUSE | What are some risk factors for child abuse?

Answer 499

- Child = failure to meet parental expectations (disabled, wrong sex) - Parent = MH issues, substance abuse, parental LD - Family = stepparents, domestic abuse, young parental age - Environment = low socioeconomic status

Question 500

CHILD ABUSE What is neglect? How may it present?

Answer 500

- Failure to meet a child's basic physical + psychological needs - Poor standards of hygiene that affects health, unsafe living conditions

Question 501

CHILD ABUSE | How might sexual abuse present?

Answer 501

- PV/PR bleed or itching - STI - Sexualised behaviour in prepubertal child

Question 502

CHILD ABUSE | How might physical abuse present?

Answer 502

- # = metaphyseal, posterior rib or multiple at different stages of healing - Torn frenulum from forcing bottle into mouth - Burns or scalds - Bruising = abdo, genitalia, inside of arms/legs

Question 503

CHILD ABUSE | What features in the history are suspicious for child abuse?

Answer 503

- Injuries inconsistent with developmental stage - Delayed presentation + repeated A&E attendances - Story inconsistent with injuries

Question 504

CHILD ABUSE | What is the management for suspected child abuse?

Answer 504

- FBC, clotting screen, bone profile, radiology - If suspected > hospital admission, can break confidentiality, CPS, examine other children - Fundoscopy for retinal haemorrhages

Question 505

CHILD ABUSE Why do you perform fundoscopy? Other features?

Answer 505

- Shaken baby syndrome = retinal haemorrhages, subdural haematoma + encephalopathy

Question 506

FAS | What are some features of foetal alcohol syndrome?

Answer 506

- Microcephaly - Thin upper lip, small eyes, smooth philtrum - LD + cardiac malformations - Can have alcohol withdrawal Sx a birth = irritable, hypotonic, tremors