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FINALS > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

PERTUSSIS

What is pertussis?

A
  • Bronchitis caused by gram negative Bordetella pertussis bacteria
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2
Q

PERTUSSIS

What is the clinical presentation of pertussis?

A
  • 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
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3
Q

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

A
  • Nasopharyngeal swab with bacterial culture or PCR
  • Marked lymphocytosis on blood film
  • Pneumonia, seizures, bronchiectasis
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4
Q

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

A
  • 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
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5
Q

CROUP
What is croup?
What is the epidemiology?

A
  • URTI mainly 2º to parainfluenza viruses

- Children 6m–3y, commonly in Autumn

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6
Q

CROUP

What is the clinical presentation of croup?

A
  • Low grade fever + coryzal symptoms
  • Barking cough which is worse at night
  • Stridor > if audible at rest = admit (adverse sign)
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7
Q

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

A
  • Clinical but if PA CXR = subglottic narrowing (steeple sign)
  • Westley score (chest wall retractions, stridor, cyanosis, air entry)
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8
Q

CROUP

What is the management of croup?

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

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

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9
Q

LARYNGOMALACIA
What is laryngomalacia?
Key finding?
Management?

A
  • Congenital (floppy) abnormality of larynx presenting with stridor
  • Bronchoscopy = omega epiglottis
  • Resolves as matures
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10
Q

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

A
  • Inflammation of bronchioles classically 2º to RSV (also adenoviruses)
  • Majority <1y in winter
  • Prematurity, CHD + CF
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11
Q

BRONCHIOLITIS

What is the clinical presentation of bronchiolitis?

A
  • Initial coryzal symptoms and mild fever
  • Dry cough
  • SOB (especially when feeding > difficulties)
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12
Q

BRONCHIOLITIS

What are some signs of respiratory distress seen in bronchiolitis?

A
  • Intercostal + subcostal recessions and sternal retraction
  • Nasal flaring
  • Tracheal tug + head bobbing
  • Apnoea and grunting = bad signs
  • Auscultation = wheeze, fine inspiratory crackles
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13
Q

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

A
  • Immunofluorescence of NP secretions = RSV

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

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14
Q

BRONCHIOLITIS

What is the inpatient management of bronchiolitis?

A
  • Saline nasal drops
  • Small feed (NG 1st line or IV if cannot tolerate)
  • Humidified oxygen via nasal cannula
  • Suction if excessive secretions
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15
Q

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

A
  • Monoclonal Ab to RSV = palivizumab as monthly IM to reduce admission
  • High-risk infants (preterm, CHD, CF)
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16
Q

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

A
  • Episodic viral = only wheezes when viral URTI + Sx free inbetween
  • Multiple trigger = as well as viral URTIs, other triggers (exercise, smoke) > some develop asthma
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17
Q

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

A
  • 1st line = salbutamol PRN with spacer
  • 2nd line = Montelukast or ICS or both
  • Multiple trigger = trial ICS or Montelukast for 4–8w
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18
Q

KARTAGENER SYNDROME

What is Kartagener syndrome (primary ciliary dyskinesia)?

A
  • AR congenital abnormality leading to immotile cilia
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19
Q

KARTAGENER SYNDROME

What is the clinical presentation of Kartagener syndrome?

A
  • Recurrent sinusitis, dextrocardia or situs invertus + bronchiectasis
  • Reduced sperm motility + defective tubal cilia > infertility
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20
Q

CYSTIC FIBROSIS

What is cystic fibrosis?

A
  • Mutation in gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) on chromosome 7 which is a cAMP dependent Cl- channel
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21
Q

CYSTIC FIBROSIS

What is the pathophysiology of cystic fibrosis?

A
  • Increased sodium absorption and abnormal chloride secretion in the epithelial cells lining the airway > increased viscosity secretions impairing cilia function
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22
Q

CYSTIC FIBROSIS

What is the aetiology and epidemiology of cystic fibrosis?

A
  • Autosomal recessive condition
  • Most common mutation is deltaF508 deletion, more commonly in caucasians
  • 1 in 25 carriers + 1 in 2500 have CF
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23
Q

CYSTIC FIBROSIS

How does cystic fibrosis present in neonates and children?

A
  • Meconium ileus + prolonged neonatal jaundice
  • Malabsorption = failure to thrive (short stature), steatorrhoea
  • Rectal prolapse, nasal polyps
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24
Q

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

A
  • Diabetes mellitus 2º pancreatic insufficiency, liver cirrhosis
  • Finger clubbing, coarse inspiratory crepitations ±expiratory wheeze
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25
Q

CYSTIC FIBROSIS

What are some complications of cystic fibrosis?

A
  • Recurrent chest infections > bronchiectasis
  • Cholesterol gallstones
  • Infertility (absent vas deferens in males)
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26
Q

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

A
  • S. aureus, H. influenzae, Pseudomonas aeruginosa

- Burkholderia cepacia associated with increased morbidity + mortality

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27
Q

CYSTIC FIBROSIS

What is the gold standard investigation for cystic fibrosis?

A
  • Sweat test

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

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28
Q

CYSTIC FIBROSIS

What are some investigations for cystic fibrosis?

A
  • Guthrie test = raised immunoreactive trypsinogen
  • Low faecal elastase = pancreatic insufficiency
  • Genetic testing for CFTR gene during pregnancy with amniocentesis or CVS
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29
Q

CYSTIC FIBROSIS

What is the general management of cystic fibrosis?

A
  • MDT management
  • Avoid other CF patients as risk of transmitting infections
  • CFTR modulators e.g., Kaftrio + Orkambi (brands), ivacaftor (drug)
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30
Q

CYSTIC FIBROSIS

What is the respiratory management of cystic fibrosis?

A
  • Chest physio ≥BD for airway clearance
  • Nebulised DNase + hypertonic saline to decrease sputum viscosity
  • Lung transplantation > Burkholderia cepacia is C/I
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31
Q

CYSTIC FIBROSIS

What is the GI management of cystic fibrosis?

A
  • High calorie, high fat diet
  • Vitamin supplementation ADEK
  • Pancreatic enzyme replacement (Creon)
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32
Q

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

A
  • NICE traffic light system for <5
  • Colour (skin, lips, tongue)
  • Activity
  • Respiratory
  • Circulation + hydration
  • Other
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33
Q

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?

A

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

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34
Q

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

A
  • Manage at home with safety netting
  • F2F assessment with doctor to further investigate
  • Urgent admission for specialist assessment (999)
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35
Q

CHICKENPOX
What is chickenpox?
What are some risk factors?

A
  • Primary infection by Varicella zoster virus

- Immunocompromised, steroids, neonates, older age

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36
Q

CHICKENPOX

What is the clinical presentation of chickenpox?

A
  • Prodromal high fever and mildly systemically unwell

- Itchy, vesicular rash on head + trunk > peripheries

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37
Q

CHICKENPOX

What are some complications of chickenpox?

A
  • Secondary bacterial infection
  • Shingles (older children)
  • Ramsay Hunt syndrome
  • Risk to immunocompromised + neonates
  • Rarer = pneumonia, encephalitis
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38
Q

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

A
  • NSAIDs

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

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39
Q

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

A
  • 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
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40
Q

CHICKENPOX

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

A
  • Human varicella zoster immunoglobulin (VZIG)
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41
Q

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

A
  • Camomile lotion to stop itching
  • Trim nails
  • School exclusion until all lesions crusted over (usually 5d after rash)
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42
Q

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

A
  • Medium-sized vessel systemic vasculitis,

- More common in children of Japanese or Afro-Caribbean ethnicity, 6m–5y

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43
Q

KAWASAKI DISEASE

What is the diagnostic criteria for Kawasaki disease?

A

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
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44
Q

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

A
  • FBC (raised WCC, platelets), raised ESR + CRP

- Echocardiogram with close follow up (6w) to rule out key complication of coronary artery aneurysm

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45
Q

KAWASAKI DISEASE

What is the management of Kawasaki disease?

A
  • Prompt IVIg to reduce risk of aneurysm

- Aspirin to reduce risk of thrombosis

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46
Q

KAWASAKI DISEASE

Why is the management of Kawasaki disease unique?

A
  • Aspirin normally contraindicated in children due to risk of Reye’s syndrome (swelling of the liver + brain)
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47
Q

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

A
  • 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
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48
Q

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

A
  • White spots on buccal mucosa = pathognomonic

- Clinical Dx with serological (blood or saliva) testing for epidemiology

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49
Q

MEASLES

What are some important complications of measles?

A
  • Otitis media (commonest complication)
  • Pneumonia (commonest cause of death)
  • Encephalitis or rarer subacute sclerosing panencephalitis 5–10y later
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50
Q

MEASLES

What is the prophylactic management of measles?

A
  • MMR vaccine

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

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51
Q

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

A
  • Notifiable disease
  • Viral illness so supportive
  • School exclusion for 4d from rash onset
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52
Q

RUBELLA

What is the clinical presentation of rubella?

A
  • Mild prodrome = low-grade fever, coryza seen in winter + spring
  • Pink maculopapular rash starts on face then spreads to body
  • Suboccipital + postauricular lymphadenopathy
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53
Q

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

A
  • Congenital rubella syndrome = cataracts, CHD + sensorineural deafness
  • Avoid pregnant women, school exclusion 4d from rash, ensure vaccinated
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54
Q

RUBELLA

What are some complications of rubella?

A
  • Encephalitis
  • Arthritis
  • Myocarditis
  • Thrombocytopenia
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55
Q

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

A
  • RNA paramyxovirus, occurs in winter + spring
  • Fever + parotitis (unilateral > bilateral, usually earache and pain on eating)
  • May have hearing loss but usually unilateral + transient
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56
Q

MUMPS

What are some complications of mumps?

A
  • Viral meningitis + encephalitis
  • Pancreatitis
  • Orchitis = unilateral, post-pubertal, can reduce sperm count > infertility
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57
Q

MUMPS

What is the management of mumps?

A
  • Notifiable disease
  • Prophylaxis via vaccine
  • Supportive management
  • School exclusion for 5d of onset of parotid swelling
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58
Q

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

A
  • 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
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59
Q

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

A
  • EBV

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

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60
Q

GLANDULAR FEVER

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

A
  • FBC (lymphoytosis with ≥10% atypical)
  • LFTs = transient ALT rise
  • Positive monospot test with heterophile antibodies
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61
Q

GLANDULAR FEVER

What are the complications of glandular fever?

A
  • Splenomegaly > splenic rupture
  • Haemolytic anaemia (cold agglutins IgM)
  • EBV associated with Burkitt’s lymphoma
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62
Q

GLANDULAR FEVER

What is the management of glandular fever?

A
  • Supportive management
  • Avoid contact sports for 4w to reduce risk of splenic rupture
  • Avoid amoxicillin as can cause pruritic maculopapular rash
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63
Q

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

A
  • Reaction to toxins produced by group A haemolytic strep pyogenes
  • Otitis media common, post-strep glomerulonephritis and rheumatic fever if untreated
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64
Q

SCARLET FEVER

What is the clinical presentation of scarlet fever?

A
  • Fever, sore throat ± exudate, headache
  • Red-pink rash that is ‘pinhead’ with rough, sandpaper texture
  • Strawberry tongue
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65
Q

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

A
  • Notifiable disease
  • Phenoxymethylpenicillin for 10d to prevent rheumatic fever
  • Supportive + school exclusion until 24h after Abx
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66
Q

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

A
  • Human herpes virus 6
  • High fever lasting few days then settles leaving lace-like red rash across body
  • Common cause of febrile convulsions
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67
Q

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

A
  • 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
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68
Q

ERYTHEMA INFECTIOSUM

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

A
  • Aplastic crisis as it infects red cell precursors in bone marrow
  • More common in children with haemolytic anaemias like sickle cell, thalassaemia or immunocompromised
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69
Q

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

A
  • Severe desquamating rash affecting infants due to exotoxins from Staph. Aureus
  • IV Abx (flucloxacillin) + supportive
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70
Q

STAPH SCALDED SKIN

What is the clinical presentation of SSSS?

A
  • Superficial fluid-filled blisters + erythroderma
  • Desquamation + Nikolsky sign +ve = gentle rubbing causes skin to peel
  • Systemically unwell, often oral mucosa unaffected
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71
Q

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

A
  • Severe systemic reaction to S. aureus exotoxins
  • Tampon use
  • Remove infection focus, IV Abx + IV fluids
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72
Q

TOXIC SHOCK SYNDROME

What is the clinical presentation of toxic shock syndrome?

A
  • Fever ≥39
  • Hypotension (shock)
  • Diffuse erythematous rash
  • Desquamation of rash (esp. palms + soles)
  • Multi-organ dysfunction
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73
Q

VACCINATIONS

What are the two types of immunity?

A
  • 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)
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74
Q

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

A
  • MMR, BCG, nasal flu, rotavirus, Men B

- Can give fever = advise normal + paracetamol

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75
Q

VACCINATIONS
What vaccines are given at…

i) 2m?
ii) 3m?
iii) 4m?

A

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

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76
Q 
VACCINATIONS
What vaccines are given at...
i) 1y?
ii) 3y + 4m?
iii) 12-13y?
iv) 14y?
A

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

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77
Q

VACCINATIONS

What extra vaccines may be considered?

A
  • Babies born to mothers with hepatitis B = hep B at birth, 1m, 2m, 3m, 4m, 1y
  • Neonates at TB risk = BCG
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78
Q

COMMON BIRTHMARKS

What is a salmon patch?

A
  • Pink vascular birthmark on forehead, eyelid + neck

- Fade over months

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79
Q

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

A
  • Strawberry naevus = raised red marks on face, scalp + back
  • NOT present at birth but develop in first month
  • Treatment if visual field obstruction
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80
Q

COMMON BIRTHMARKS
What is a capillary haemangioma?
Management?

A
  • ‘Port wine stain’ = present at birth + may darken and grow, permanent
  • Cosmetic camouflage or laser therapy
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81
Q

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

A
  • ‘Mongolian blue spot’ = commonly lower back/buttocks, more common in non-Caucasian
  • Looks like bruising so DDx of NAI = important to document
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82
Q

NAPPY RASH

What are the 2 main types of nappy rash?

A
  • Irritant dermatitis = #1, irritant effect of urine + faeces, spares skin creases
  • Candida dermatitis = erythematous rash with involvement of flexures + characteristic satellite lesions
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83
Q

NAPPY RASH

What is the management of nappy rash?

A
  • Apply barrier cream (e.g., Zinc)
  • Expose napkin area to air when possible
  • Mild steroid cream (1% hydrocortisone) if severe
  • Topical imidazole if candida
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84
Q

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

A
  • Severe systemic reaction affecting skin + mucosa almost always 2º to drug reaction
  • Toxic epidermal necrolysis if affects >10% body surface
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85
Q

STEVEN-JOHNSON

What are some potential causes of Steven-Johnson syndrome?

A
  • Meds = penicillin, sulphonamides, AEDs (lamotrigine, carbamazepine, phenytoin), allopurinol, NSAIDs
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86
Q

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

A
  • Maculopapular rash with target lesions > may develop vesicles or bullae
  • Mucosal involvement of rash with systemic symptoms = fever, arthralgia
  • Nikolsky sign +ve
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87
Q

STEVEN-JOHNSON

What are some complications of Steven-Johnson syndrome?

A
  • Secondary infection
  • Permanent skin damage > volume loss + deranged electrolytes
  • Visual complications such as severe scarring or even blindness
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88
Q

STEVEN-JOHNSON

What is the management of Steven-Johnson syndrome

A
  • Admission as medical emergency
  • Stop causative medication
  • Skin + eye care with ophthalmology
  • Immunosuppressants
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89
Q

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

A
  • 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
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90
Q

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

A
  • 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)
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91
Q

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

A
  • Given in shock
  • 0.9% NaCl at 20ml/kg over <10m
  • After >3 boluses call for paeds intensive care support
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92
Q

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

A
  • Trauma, primary cardiac pathology (heart failure), DKA (after first 20ml/kg)
  • 10ml/kg boluses to prevent pulmonary oedema
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93
Q

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

A
  • 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
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94
Q

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

A
  • Warm + dry baby ASAP by vigorous drying (may stimulate breathing)
  • Heat lamp
  • Plastic bag while still wet + manage under heat lamp
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95
Q

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

A
  • APGAR at 1, 5 + 10m
  • Stimulate breathing with vigorous drying
  • Place baby’s head in neutral position to keep airway open
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96
Q

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

A

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)
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97
Q

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?

A
  • 5 rescue breaths
  • Infants = neutral position, cover mouth + nose with whole mouth
  • > 1y = head tilt chin lift, pinch soft part of nose + seal mouth
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98
Q

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?

A
  • Check circulation via femoral pulse

- If pulse felt = continue rescue breathing until child takes over

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99
Q

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

A
  • 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
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100
Q

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?

A
  • Encourage cough
  • Conscious = 5 back blows, 5 thrusts
  • Unconscious = open airway, 5 breaths, CPR
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101
Q

PAEDIATRIC LIFE SUPPORT

How do the choking techniques differ for age?

A
  • Chest thrusts for infant, abdominal if >1y

- Infants head down prone for back blows, supine for thrusts

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102
Q

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

A
  • Immature autonomic nervous system as brainstem not fully myelinated
  • Apnoea monitors > gentle tactile stimulation or IV caffeine
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103
Q

RDS

What is the pathophysiology respiratory distress syndrome (RDS)?

A
  • Inadequate surfactant > high surface tension within alveoli in structurally immature lungs which can lead to atelectasis + so respiratory compromise
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104
Q

RDS

What are some risk factors of RDS?

A
  • Prematurity #1
  • Maternal DM
  • 2nd premature twin
  • C-section
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105
Q

RDS

What are some clinical features of RDS?

A
  • Tachypnoea, intercostal recessions, grunting + cyanosis

- CXR = reticular “ground-glass” changes, heart borders indistinct, air bronchograms

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106
Q

RDS

What are the short and long term complications of RDS?

A
  • Short = pneumothorax, infection, NEC

- Long = bronchopulmonary dysplasia, retinopathy of prematurity

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107
Q

RDS

What is the management of RDS?

A
  • Prophylaxis = maternal corticosteroids if delivery at <34w

- Oxygen, assisted ventilation (CPAP) + endotracheal surfactant

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108
Q

CHRONIC LUNG DISEASE

What is bronchopulmonary dysplasia?

A
  • Diagnosed when infant requires oxygen therapy after they reach 36w gestation
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109
Q

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

A
  • Bowel of premature infant becomes ischaemic + infected

- Prematurity, RDS, sepsis

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110
Q

NEC. ENTEROCOLITIS

What is the clinical presentation of necrotising enterocolitis?

A
  • Bilious vomiting
  • Intolerance to feeds
  • Distended, tender abdo with absent bowel sounds
  • Bloody stools
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111
Q

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

A
  • Blood culture (sepsis)
  • CRP
  • Capillary blood gas = metabolic acidosis
  • AXR is diagnostic
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112
Q

NEC. ENTEROCOLITIS

What would an AXR show in necrotising enterocolitis?

A
  • 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
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113
Q

NEC. ENTEROCOLITIS

What are some complications of necrotising enterocolitis?

A
  • Dead bowel > perforation + peritonitis > sepsis + shock
  • Stricture formation
  • Short bowel syndrome (malabsorption) if extensive resection required
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114
Q

NEC. ENTEROCOLITIS

What is the management of necrotising enterocolitis?

A
  • ABCDE, broad spectrum Abx + NBM with parenteral nutrition

- Surgery to resect necrotic sections of bowel, laparotomy if perforation

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115
Q

JAUNDICE
What is jaundice?
When is it concerning?

A
  • Abnormally high levels of bilirubin in the blood

- Persistent/prolonged >2w full term or >3w preterm

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116
Q

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

A
  • <24h = always pathological, usually haemolytic disease
  • 24h–2w = common
  • > 2w = also bad
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117
Q

JAUNDICE

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

A
  • Haemolytic diseases #1 = rhesus/ABO haemolytic disease, G6PD, spherocytosis
  • Congenital infection (TORCH), sepsis
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118
Q

JAUNDICE

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

A
  • Physiological + breast milk jaundice (common)

- Infection (UTI, sepsis), polycythaemia

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119
Q

JAUNDICE

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

A
  • Unconjugated = physiological, sepsis, hypothyroidism

- Conjugated = neonatal hepatitis, biliary atresia

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120
Q

JAUNDICE

What causes physiological jaundice?

A
  • High concentration of RBCs in neonate which are more fragile with shorter lifespan
  • Neonate has less developed liver
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121
Q

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

A
  • AR deficiency of UDP-glucuronyl transferase = defective bilirubin conjugation
  • Isolated raised bilirubin, may only have jaundice when ill, exercising or fasting
  • No treatment
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122
Q

JAUNDICE

What investigations would you perform in neonatal jaundice?

A
  • FBC + blood film = polycythaemia, G6PD + spherocytosis
  • Conjugated and unconjugated bilirubin
  • Direct antiglobulin test (Coombs)
  • TORCH screen and urine MC&S
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123
Q

JAUNDICE

How would you measure bilirubin levels depending on age?

A
  • > 24h old = transcutaneous bilirubin meter if high, serum to confirm within 6h
  • <24h old = serum bilirubin within 2h
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124
Q

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

A
  • Kernicterus

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

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125
Q

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

A
  • Exchange transfusion

- Permanent damage > cerebral palsy, deafness, learning disability

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126
Q

JAUNDICE

What is the management of jaundice?

A
  • 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
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127
Q

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

A
  • Converts unconjugated bilirubin > water-soluble pigment that can be excreted in urine, cover infant’s eyes
  • Temp instability, macular rash, bronze discolouration
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128
Q

BILIARY ATRESIA

What is biliary atresia?

A
  • Congenital destruction or discontinuity within the extrahepatic biliary system leading to obstruction to bile flow
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129
Q

BILIARY ATRESIA

What is the clinical presentation of biliary atresia?

A
  • Prolonged jaundice >2w
  • Pale stools + dark urine (obstructive pattern)
  • Failure to thrive
  • Hepatosplenomegaly
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130
Q

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

A
  • Elevated conjugated bilirubin
  • Definitive dx = cholangiography
  • Surgical Kasai portoenterostomy
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131
Q

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

A
  • Prolonged neonatal jaundice + hepatic inflammation

- Congenital infection, A1AT deficiency, Wilson’s disease + galactosaemia

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132
Q

HIE

What is hypoxic ischaemic encephalopathy (HIE)?

A
  • Brain damage secondary to ante- or peri-natal hypoxia due to primary neuronal death and secondary reperfusion injury
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133
Q

HIE

What are the causes of HIE?

A
  • Asphyxia = placental abruption, cord compression, failure to breathe
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134
Q

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

A
  • Sarnat staging ranging from mild (irritable) to severe (reduced GCS, seizures, hypotonia)
  • EEG
  • Permanent brain damage = cerebral palsy
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135
Q

HIE

What is the main therapeutic management of HIE?

A
  • Therapeutic hypothermia to help protect from further damage by secondary reperfusion injury
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136
Q

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

A
  • Haemorrhage in the ventricular system
  • Perinatal asphyxia + prematurity
  • Cranial USS, supportive, VP shunt if hydrocephalus or rising ICP
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137
Q

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

A
  • No agreed definition but <2.6mmol/L often used
  • Preterm, maternal DM, IUGR, neonatal sepsis
  • Jitteriness, irritable, poor feeding, drowsy
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138
Q

HYPOGLYCAEMIA

What is the management of neonatal hypoglycaemia?

A
  • Asymptomatic = encourage normal feeding (breast or bottle), monitor blood glucose
  • Symptomatic or very low = admit to neonatal unit, IV 10% dextrose infusion
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139
Q

RETINOPATHY

What is thought to contribute to retinopathy of prematurity?

A
  • Over oxygenation resulting in proliferation of retinal blood vessels (neovascularisation)
  • RDS, prematurity (esp. <32w), very LBW <1.5kg
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140
Q

RETINOPATHY

What is the management of retinopathy of prematurity?

A
  • Regular eye screening by ophthalmologist for at-risk groups
  • Laser photocoagulation if neovascularisation
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141
Q

CDH
What is congenital diaphragmatic hernia?
Most common type?

A
  • Herniation of abdominal viscera into chest cavity due to failure of pleuroperitoneal cavity to close
  • Most common is L sided posteriolateral
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142
Q

CDH

What are some clinical features of congenital diaphragmatic hernia?

A
  • Respiratory distress (pulmonary hypoplasia)
  • Bowel sounds when auscultating chest
  • Often diagnosed antenatally, CXR = bowel in lungs
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143
Q

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

A
  • Serious infection in blood affecting babies within first 28d of life
  • Maternal GBS colonisation, GBS sepsis in previous baby, chorioamnionitis, PPROM, LBW
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144
Q

NEONATAL SEPSIS

What are some causes of neonatal sepsis?

A
  • 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
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145
Q

NEONATAL SEPSIS

What is the clinical presentation of neonatal sepsis?

A
  • Respiratory distress #1 = grunting, nasal flaring, tachypnoea or apnoea
  • Jaundice, seizures, poor feeding
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146
Q

NEONATAL SEPSIS

What are the investigations for neonatal sepsis?

A

Septic screen –

  • FBC, CRP, blood cultures
  • Blood gas (metabolic acidosis worrying)
  • Urine MC&S
  • CXR
  • LP for CSF sample
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147
Q

NEONATAL SEPSIS

What is the management of neonatal sepsis?

A
  • IV benzylpenicillin (gram +ve) + gentamicin (gram -ve) = 1st line
  • At 48h if CRP <10 and cultures negative = stop Abx
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148
Q

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

A
  • Respiratory distress + chemical pneumonitis 2º to meconium in the lungs
  • Post-term deliveries, pre-eclampsia, chorioamnionitis
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149
Q

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

A
  • Persistent pulmonary HTN

- Ventilation, suction

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150
Q

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

A
  • First within 72h of birth + second by GP at 6–8w

- General observation, eyes, heart, hips + genitalia

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151
Q

NIPE EXAMINATION

What is looked for in the general observation?

A
  • Weight, height, head circumference (HC = measure of brain size)
  • Palpate sutures + fontanelle
  • Dysmorphic features
  • Reflexes (grasp, sucking, rooting, moro)
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152
Q

NIPE EXAMINATION

What is looked for in the eyes examination?

A
  • Red reflex (congenital cataracts, retinoblastoma)

- Movement (visual loss)

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153
Q

NIPE EXAMINATION

What is looked for in the cardiac examination?

A
  • HR 110–160bpm
  • Murmur (CHD)
  • Femoral pulse (coarctation)
  • Central cyanosis (cyanotic CHD)
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154
Q

NIPE EXAMINATION

What is looked for in the hip examination

A
  • Barlow + Ortolani test (DDH)
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155
Q

NIPE EXAMINATION

What is looked for in the genitalia examination?

A
  • Testes (cryptorchidism)
  • Ambiguous genitalia (CAH)
  • Genitalia (hypospadias)
  • Imperforate anus (bladder/vaginal fistula)
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156
Q

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

A
  • Failure of fusion of the frontonasal + maxillary processes

- Failure of fusion of palatine processes + nasal septum

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157
Q

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

A
  • Chromosomal disorder or maternal AED therapy
  • Poor feeding, speech delay, recurrent otitis media (palate)
  • Lip earlier at ≤3m, palate later at 6–12m
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158
Q

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

A
  • Upper + lower oesophagus in 2 sections + does not connect

- Tracheo-oesophageal fistula, polyhydramnios + VACTERL association

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159
Q

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

A
  • Difficulty feeding + overflow saliva

- Surgical

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160
Q

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

A
  • 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
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161
Q

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

A
  • Bowel protrudes through anterior abdominal wall, no covering sac
  • USS = free loops of bowel in amniotic fluid
  • Attempt vaginal, wrap in clingfilm, theatre ASAP
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162
Q

EXOMPHALOS

What is exomphalos, or omphalocele?

A
  • Abdominal contents protrude through umbilical ring, covered with a transparent sac formed by the amniotic membrane + peritoneum
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163
Q

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

A
  • Other major congenital abnormalities, antenatal Dx

- C-section at 37w, staged repair as primary closure difficult

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164
Q

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

A
  • Purulent discharge, conjunctival injection + eyelid swelling <48h
  • IV Abx as can lose vision
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165
Q

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

A
  • Purulent discharge, eyelid swelling, 1-2w

- PO erythromycin

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166
Q

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

A
  • Commonest cause of resp distress in term infants

- Seen after c-section as ?fluid not ‘squeezed out’ during passage through birth canal

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167
Q

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

A
  • Hyperinflation + fluid in horizontal fissure

- Observation, supportive ± oxygen if needed

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168
Q

FOETAL CIRCULATION

What are physiological (innocent flow) murmurs?

A

4S’s –

  • Soft blowing murmur
  • Symptomless
  • left Sternal edge
  • Systolic murmur only
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169
Q

FOETAL CIRCULATION

What is Eisenmenger’s syndrome?

A
  • 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
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170
Q

FOETAL CIRCULATION

What are the main cyanotic heart diseases?

A 
4Ts –
- ToF
- TGA
- Tricuspid atresia
- Truncus arteriosus
(Complete AVSD too)
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171
Q

ATRIAL SEPTAL DEFECT

What are the main types of ASD?

A
  • Ostium primum (group with AVSD)

- Ostium secundum (80%) = defect involving foramen ovale

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172
Q

ATRIAL SEPTAL DEFECT

What are the key features of ASD?

A
  • Dysponea, failure to thrive
  • Fixed + widely split S2 (does not change with inspiration or expiration)
  • ESM at ULSE as increased flow across pulmonary valve
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173
Q

ATRIAL SEPTAL DEFECT

What are some investigations for ASD?

A
  • CXR = cardiomegaly, increased pulmonary vascular markings
  • Primum ECG = RBBB + LAD
  • Secundum ASD = RBBB + RAD
  • ECHO is diagnostic
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174
Q

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

A
  • Eisenmenger syndrome, risk of stroke if DVT or AF

- Conservative or surgery

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175
Q

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

A
  • Trisomy 13, 18 + 21
  • Failure to thrive, heart failure (tachypnoea, hepatomegaly, tachycardia)
  • Pansystolic murmur at LLSE, louder = smaller VSD
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176
Q

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

A
  • CXR may show signs of heart failure if large VSD, echo diagnostic
  • Infective endocarditis, Eisenmenger’s syndrome, heart failure, AR
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177
Q

VSD

What is the management of VSD?

A
  • Conservative or surgery at 3–6m

- Large VSD with heart failure = diuretics, captopril

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178
Q

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

A
  • Defect between atria + ventricles, can lead to pulmonary HTN
  • Down’s syndrome
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179
Q

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

A
  • Cyanosis at birth with heart failure 2–3w of life, no murmur
  • Medical treatment for heart failure + surgical repair at 3–6m
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180
Q

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

A
  • Connection between aorta + pulmonary arteries so increased blood flow to lungs + LV so > LVH
  • Prematurity + maternal rubella
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181
Q

PDA

What are some key clinical features of PDA?

A
  • Left subclavicular thrill + continuous ‘machinery’ murmur at that area
  • Wide pulse pressure with a bounding/collapsing pulse
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182
Q

PDA

What is the management of PDA?

A
  • Echo to confirm Dx

- NSAIDs (indomethacin) = facilitates closure of PDA as inhibits prostaglandins

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183
Q

TOF

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

A
  • Large VSD
  • Pulmonary stenosis (RV outflow obstruction)
  • RVH
  • Overriding aorta
    (If ASD present too = pentad of Fallot)
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184
Q

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

A
  • 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
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185
Q

TOF

What are some key clinical features of TOF?

A
  • 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
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186
Q

TOF

What are the some investigations for TOF?

A
  • CXR = boot shaped heart due to RVH

- Echocardiogram = diagnostic

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187
Q

TOF

What is the management of TOF?

A
  • Tet spells = analgesia, oxygen, last resort propranolol to vasoconstrict
  • Surgical repair in 2 parts
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188
Q

TGA

What is transposition of the great vessels (TGA)?

A
  • Aorta connected to RV, pulmonary artery connected to LV > cyanosis
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189
Q

TGA

What is the clinical presentation of TGA?

A
  • Cyanosis day 2 as duct closes > life-threatening
  • No murmur but S2 usually loud + singular
  • Prominent RV impulse on palpation
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190
Q

TGA

What are the investigations for TGA?

A
  • Pre (R arm) + post duct (foot) sats
  • CXR = narrow mediastinum with ‘egg on its side’ appearance
  • ECHO confirms Dx
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191
Q

TGA

What is the management of TGA?

A
  • Neonates = prostaglandin E1 infusion to maintain ductus arteriosus
  • Arterial switch procedure = definitive Mx
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192
Q

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

A
  • RV small + non-functional, complete absence of tricuspid valve, only LV effective
  • Cyanosis
  • PGE1 infusion to maintain ductus arteriosus
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193
Q

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

A
  • 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
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194
Q

COARCTATION OF AORTA

What are the clinical features of coarctation of the aorta?

A
  • Weak femoral pulses + radio-femoral delay
  • Systolic murmur between scapulas
  • Heart failure + cyanosis as duct closes
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195
Q

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

A
  • 4 limb BP (R arm > L arm), pre + post-duct sats
  • CXR = cardiomegaly + rib notching (often teens + adults)
  • PGE1 infusion, surgical repair
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196
Q

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

A
  • 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
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197
Q

EBSTEIN’S ANOMALY

What is the clinical presentation of Ebstein’s anomaly?

A
  • Cyanosis, hepatomegaly
  • Tricuspid regurgitation = pansystolic murmur
  • RBBB on ECG
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198
Q

RHEUMATIC FEVER

What is the pathophysiology of rheumatic fever?

A
  • T2 hypersensitivity reaction as antibodies target various systems 2–4w following group A beta-haemolytic streptococcus pyogenes infection
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199
Q

RHEUMATIC FEVER

How is rheumatic fever diagnosed?

A

Jones criteria –

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

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200
Q

RHEUMATIC FEVER

What are the major criteria in rheumatic fever?

A

JONES –

  • Joint arthritis (migratory)
  • Organ inflammation (pancarditis)
  • Nodules (subcutaneous)
  • Erythema marginatum rash (pink rings of varying sizes)
  • Sydenham chorea
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201
Q

RHEUMATIC FEVER

What are the minor criteria in rheumatic fever?

A

FEAR –

  • Fever
  • ECG changes (prolonged PR interval) without carditis
  • Arthralgia without arthritis
  • Raised CRP/ESR
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202
Q

RHEUMATIC FEVER

What are the investigations for rheumatic fever?

A
  • Throat swab for MC&S
  • Anti-streptococcal antibodies (ASO) titres raised
  • Streptococcal antigen test +ve
  • ECG + echocardiogram
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203
Q

RHEUMATIC FEVER

What are some complications of rheumatic fever?

A
  • Recurrence
  • Valvular heart disease (mitral stenosis especially)
  • Chronic heart failure
204
Q

RHEUMATIC FEVER

What is the management of rheumatic fever?

A
  • Prevention by treating strep infections with 10d phenoxymethylpenicillin
  • NSAIDs first line
  • Prophylactic IM benzathine penicillin every 4w to prevent recurrence
205
Q

HIRSCHSPRUNG’S DISEASE

What is Hirschsprung’s disease?

A
  • Absence of ganglionic cells from myenteric (Auerbach’s) plexus of large bowel resulting in narrow, contracted section of bowel > large bowel obstruction
206
Q

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

A
  • 75% confined to rectosigmoid

- Males, Down’s syndrome

207
Q

HIRSCHSPRUNG’S DISEASE

What is the clinical presentation of Hirschsprung’s disease?

A
  • Failure or delay to pass meconium within 24h
  • Early constipation and late vomiting, abdo distension
  • PR = narrow segment, withdrawal leads to forecful evacuation
208
Q

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

A
  • AXR with barium contrast = dilated loops of bowel with fluid level
  • Suction rectal biopsy = DIAGNOSTIC showing absence of ganglionic cells
209
Q

HIRSCHSPRUNG’S DISEASE

What is the management of Hirschsprung’s disease?

A
  • Initial = bowel irrigation

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

210
Q

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

A
  • Hypertrophy of the pyloric (circular) muscle causing gastric outlet obstruction
  • Presents 2–7w, males, particularly first-borns
211
Q

PYLORIC STENOSIS

What is the clinical presentation of pyloric stenosis?

A
  • Projectile vomiting (no bile) due to powerful peristalsis 30m AFTER feeds
  • Constipation + dehydration
  • Palpable abdominal ‘olive’ mass in RUQ (hypertrophic muscle)
212
Q

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

A
  • Test feed = visible gastric peristalsis
  • Hypochloraemic hypokalaemic metabolic alkalosis from vomiting
  • USS = Dx, visualises thickened pylorus
213
Q

PYLORIC STENOSIS

What is the management of pyloric stenosis?

A
  • Laparoscopic Ramstedt’s pyloromyotomy, can feed 6h after
214
Q

INTUSSUSCEPTION
What is intussusception?
Most commonly seen?
Epidemiology?

A
  • 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
215
Q

INTUSSUSCEPTION

What are some symptoms of intussusception?

A
  • 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
216
Q

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

A
  • USS #1 choice, shows ‘target sign’
  • Initial = reduction via air enema (insufflation) by radiologist (risk of perforation)
  • Surgery if fails or peritonitic
217
Q

MECKEL’S DIVERTICULUM

What is Meckel’s diverticulum?

A
  • 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
218
Q

MECKEL’S DIVERTICULUM

What is the clinical presentation of Meckel’s diverticulum?

A
  • # 1 cause of painless massive GI bleeding in children 1–2y

- Obstruction secondary to volvulus or intussusception

219
Q

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

A
  • Technetium scan will demonstrate increased uptake by ectopic gastric mucosa
  • Surgical resection, may need blood transfusion
220
Q

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

A
  • Midgut rotates and fixates in abnormal position making it more prone to volvulus and compression of the duodenum by peritoneal (Ladd) bands
221
Q

INTESTINAL MALROTATION

What is the clinical presentation of intestinal malrotation?

A
  • First week of life bilious vomiting as below sphincter of oddi
  • Abdominal pain
222
Q

INTESTINAL MALROTATION

What is the investigation and management of intestinal malrotation?

A
  • Urgent upper GI contrast study = Dx

- Urgent surgical correction

223
Q

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

A
  • Inflamed lymph nodes within the mesentery often following viral URTI
  • Similar Sx to appendicitis
  • Diagnosed on laparoscopy, no Rx
224
Q

VOMITING

What are some common causes of vomiting in infants?

A
  • GOR (v common)
  • Infection (gastroenteritis, pertussis, UTI, meningitis)
  • Dietary protein intolerances
  • Intestinal obstruction (pyloric stenosis, malrotation)
225
Q

VOMITING

What are some common causes of vomiting in preschool children?

A
  • Gastroenteritis + infections
  • Appendicitis
  • Intestinal obstruction (intussusception, volvulus)
  • Torsion
226
Q

VOMITING

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

A
  • Gastroenteritis, infection
  • Torsion
  • Appendicitis
  • DKA
  • Bulimia nervosa
227
Q

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

A
  • Vomiting/regurgitation following feeds, often before 8w

- Preterm delivery, neuro disorders (cerebral palsy)

228
Q

GOR

What are some complications of GOR?

A
  • Failure to thrive from severe vomiting
  • Oesophagitis, aspiration pneumonia
  • Sandifer syndrome = dystonic neck posturing (torticollis)
229
Q

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

A
  • Small + frequent feeds, burping regularly, keep upright after
  • 1st line = trial thickened formula
  • 2nd line = trial alginate therapy (Gaviscon)
230
Q

GOR

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

A
  • PPI or H2 receptor antagonist

- Faltering growth, distressed behaviour or unexplained feeding difficulties (refused feeds, gagging/choking)

231
Q

GOR

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

A
  • Fundoplication = failure to thrive + medical treatment ineffective
232
Q 
THREADWORMS
What causes threadworms?
How does it present?
How is it investigated?
How is it treated?
A
  • 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
233
Q

PUBERTY
In terms of female puberty…

i) age?
ii) first sign?
iii) other signs?

A

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)

234
Q

PUBERTY
In terms of male puberty…

i) age?
ii) first sign?
iii) other signs?

A

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

235
Q

PUBERTY

What features of puberty are consistent with both sexes?

A
  • Adrenarche = maturation of adrenal gland leading to androgen production causing body odour + mild acne
236
Q

PRECOCIOUS PUBERTY

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

A
  • 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)
237
Q

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

A
  • Development of secondary sexual characteristics (thelarche) <8y
  • More common, usually central, idiopathic/familial (FHx)
  • None unless not ready > GnRH analogues
238
Q

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

A
  • 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)
239
Q

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

A
  • Autosomal recessive condition with deficiency of 21-hydroxylase enzyme
  • Small minority = 11-beta-hydroxylase
  • Consanguineous parents
240
Q

CAH

What is the pathophysiology of CAH?

A
  • 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
241
Q

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?

A
  • Virilised genitalia, oligomenorrhoea, hirsutism, tall for age, deep voice
  • Tall for age, deep voice, small testicles + precocious puberty
  • Skin hyperpigmentation (high ACTH)
242
Q 
CAH
What is a critical complication of CAH?
How does it present?
Biochemical picture?
What is the management?
A
  • Salt-losing crisis after birth
  • Vomiting, dehydration + circulatory collapse
  • Hyponatraemia, hyperkalaemic, metabolic acidosis, hypoglycaemia
  • IV 0.9% NaCl (+ dextrose if low), IV hydrocortisone
243
Q

CAH

What are some investigations for CAH?

A
  • Plasma androgens (high as ACTH high)

- High metabolic precursor levels of 17alpha-hydroxyprogesterone (used to monitor disease too)

244
Q

CAH

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

A
  • Corrective surgery to external genitalia within 1st year

- Lifelong hydrocortisone ± fludrocortisone

245
Q

DELAYED PUBERTY

How is delayed puberty defined in males and females?

A
  • Males = no pubertal development by age 14

- Females = no pubertal development by age 13

246
Q

DELAYED PUBERTY

What are the two main causes of delayed puberty?

A
  • Hypogonadotropic hypogonadism = deficiency of FSH + LH so low sex hormones
  • Hypergonadotropic hypogonadism = gonads fail to respond to high FSH + LH levels
247
Q

DELAYED PUBERTY

What are some causes of hypogonadotropic hypogonadism?

A
  • Normal stature = constitutional delay (FHx), Kallmann’s syndrome (+ anosmia)
  • Chronic disease
  • Excessive stress
  • Pituitary pathology
248
Q

DELAYED PUBERTY

What are some causes of hypergonadotropic hypogonadism?

A
  • Short stature = Turner’s, Noonan’s + Prader-Willi

- Normal stature = Klinefelter’s

249
Q

DELAYED PUBERTY

What are some investigations for delayed puberty?

A
  • 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
250
Q

DELAYED PUBERTY

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

A
  • Early morning serum gonadotropins (FSH/LH)
  • IGF-1 to screen for GH deficiency
  • ?TFTs, ?Prolactin
251
Q

DELAYED PUBERTY

What is the management of delayed puberty?

A
  • Constitutional = reassure, if distress specialist may consider sex hormones
252
Q

MEASUREMENT

How do you calculate the mid-parental height?

A
  • Boys = [(Dad + mum height in cm) ÷ 2] + 7

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

253
Q

MEASUREMENT

What is the role of measurements in paediatrics?

A
  • 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)
254
Q

FAILURE TO THRIVE

What is failure to thrive?

A
  • Failure to gain adequate weight or achieve adequate growth at a normal rate during infancy or childhood aka faltering growth
255
Q

FAILURE TO THRIVE

What are some broad aetiological categories for failure to thrive?

A
  • Inadequate calorie intake (most common)
  • Malabsorption
  • Inadequate retention
  • Inability to process nutrients properly
  • Increased calorie requirements
256
Q

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

A
  • Impaired suck/swallow (cleft palate, CP), socioeconomic deprivation, neglect
  • CF, IBD, coeliac, cow’s milk protein intolerance
257
Q

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?

A
  • Vomiting
  • T1DM, inborn errors of metabolism
  • Chronic disease (CF, CHD, CKD), malignancy
258
Q

FAILURE TO THRIVE

How is failure to thrive defined by height?

A
  • Mild = fall across 2 centile lines on growth chart

- Severe = fall across 3 centile lines on growth chart

259
Q

FAILURE TO THRIVE

How does NICE define faltering growth in children by weight?

A
  • ≥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
260
Q

FAILURE TO THRIVE

What are some investigations for failure to thrive?

A
  • 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
261
Q

SHORT STATURE

Define short stature

A
  • Height below 2nd centile (>2 standard deviations below the mean for the age, sex)
262
Q

SHORT STATURE

What are some broad causes of short stature?

A
  • 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
263
Q

SHORT STATURE

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

A
  • Endo = falling off height centiles so weight > height

- Chronic = falling off weight centiles so height > weight

264
Q

TALL STATURE

Define tall stature

A
  • Height above 98th centile (>2 standard deviations above the mean for the age, sex)
265
Q

TALL STATURE

What are some causes of tall stature?

A
  • Familial (#1)
  • Obesity
  • Secondary = hyperthyroidism, precocious puberty, CAH
  • Syndromes = Marfan, Klinefelter
266
Q

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

A
  • Hip, then leg > knee > thigh > foot (least likely)

- Intra-abdominal pathology like hernia, testicular torsion

267
Q

LIMP OVERVIEW

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

A
  • Trauma (accidental or NAI)
  • Infections (septic arthritis, osteomyelitis)
  • DDH (chronic)
  • Malignancy
  • Neuromuscular disease (CP, Duchenne’s)
  • ANY CHILD <3Y WITH LIMP NEEDS URGENT ASSESSMENT*
268
Q

LIMP OVERVIEW

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

A
  • Trauma, infection, malignancy
  • Transient synovitis (acute)
  • Perthe’s disease (P for primary school, chronic)
  • Juvenile idiopathic arthritis (chronic)
269
Q

LIMP OVERVIEW

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

A
  • Trauma, infection, malignancy
  • Slipped upper femoral epiphysis (S for secondary school)
  • JIA
  • Reactive arthritis
270
Q

DDH

What is developmental dysplasia of the hip (DDH)?

A
  • Abnormal relationship of femoral head to the acetabulum leading to aberrant development of hip causing instability
271
Q

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

A
  • First degree FHx, breech at ≥36w, multiple pregnancy
    – USS hip by 6w even if normal NIPE exam
  • Female, First born, Fluid (oligohydramnios)
272
Q

DDH

What is the clinical presentation of DDH?

A
  • 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
273
Q

DDH

What is the management of DDH?

A
  • 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
274
Q

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

A
  • Avascular necrosis of the femoral head, specifically femoral epiphysis
  • Much more common in boys, 4–8y (Perthes’ = Primary school)
275
Q

PERTHES’ DISEASE

What is the clinical presentation of Perthes’ disease?

A
  • Unilateral hip pain + limp over weeks
  • Stiffness + reduced ROM in hip
  • +ve Trendelenburg test (abductor dysfunction) = ‘sound side sags’
276
Q

PERTHES’ DISEASE

What are the investigations for Perthes’ disease?

A
  • 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
277
Q

PERTHES’ DISEASE

What are the complications of Perthes’ disease?

A
  • Premature fusion of the growth plates

- Early osteoarthritis

278
Q

PERTHES’ DISEASE

What is the management of Perthes’ disease?

A
  • Keep femoral head within acetabulum (cast, braces)

- <6y = observation, if older consider surgery

279
Q

JIA

What is the criteria for a clinical diagnosis of JIA?

A
  • Onset before 16y with no underlying cause
  • Joint swelling/stiffness
  • > 6w in duration to exclude other causes (i.e. reactive)
280
Q

JIA

What are the main types of JIA?

A
  • Systemic JIA (Still’s disease)
  • Polyarticular JIA
  • Oligoarticular JIA
281
Q

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

A
  • Salmon-pink rash + arthritis
  • High swinging fevers, lymphadenopathy + weight loss
  • Macrophage activation syndrome = severe immune reaction
282
Q

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

A
  • ≥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
283
Q

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

A
  • ≤4 joints affected, often just monoarthritis
  • Tends to affect the larger joints like knee or ankle, usually no systemic Sx
  • Mostly girls <6y
284
Q

JIA

What are some investigations done in JIA?

A
  • Raised inflammatory markers = CRP/ESR, platelets, serum ferritin
  • Serology = ANA and rheumatoid factor
  • HLA B27 +ve
285
Q

JIA

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

A
  • Systemic = ANA and RF negative
  • Polyarticular = older children may be RF positive (seropositive)
  • Oligoarticular = ANA positive and RF negative
286
Q

JIA

What are some complications from JIA?

A
  • Chronic anterior uveitis (HLA B27) > severe visual impairment
  • Flexion contractures of joints
  • Growth failure + osteoporosis
287
Q

JIA

What is the management of JIA?

A
  • 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
288
Q

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

A
  • ‘Irritable hip’ caused by transient inflammation of the joint synovial membrane
  • Recent viral URTI, children 3–9y
289
Q

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

A
  • Limp + refusal to weight bear
  • Groin or hip pain
  • Mild low-grade fever (high fever > exclude septic arthritis)
  • USS = effusion but XR normal
290
Q

TRANSIENT SYNOVITIS

What is the management of transient synovitis?

A
  • 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
291
Q

SUFE/SCFE

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

A
  • Displacement of femoral head epiphysis postero-inferiorly along the growth plate
  • Boys, 10–15y, obese + growth spurt (SUFE = Secondary school)
292
Q

SUFE/SCFE

What is the clinical presentation of SUFE/SCFE?

A
  • History of minor trauma
  • Groin, hip, thigh or knee pain + limp
  • Loss of internal rotation in flexion
293
Q

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

A
  • XR first line (AP + frog-leg views) = diagnostic

- Surgery = internal fixation (pin femoral head into position)

294
Q

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

A
  • Inflammation at the tibial tuberosity where the patellar ligament inserts
  • 10–15y sporty males (football, basketball)
295
Q

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

A
  • Visible or palpable hard lesion at tibial tuberosity
  • Pain in anterior aspect of knee ON activity
  • Supportive (rest, ice, analgesia, elevation)
296
Q 
COMMON KNEE ISSUES
What is chondromalacia patellae?
Who is it common in?
How does it present?
What is the management
A
  • Softening of the cartilage of the patellar
  • Teenage girls
  • Pain behind patellar worse walking downstairs and at rest
  • Usually responds to physiotherapy
297
Q

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

A
  • Chronic anterior knee pain that worsens after running
  • Tender below patellar on examination
  • More common in athletic teenage boys
298
Q

COMMON KNEE ISSUES
What is…

i) osteochondritis dissecans?
ii) patellar subluxation?

A

i) Pain after exercise with intermittent swelling + locking

ii) Medial knee pain due to lateral subluxation of the patellar, knee may give way

299
Q

GROWING PAINS

What are growing pains?

A

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
300
Q

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

A
  • 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).
301
Q

OSTEOGENESIS IMPERFECTA

What is the clinical presentation of osteogenesis imperfecta?

A
  • 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
302
Q

OSTEOGENESIS IMPERFECTA

What are some investigations for osteogenesis imperfecta?

A
  • Calcium, phosphate, PTH + ALP = normal
  • DEXA scan for BMD
  • 7 types under Sillence classification (T2 = lethal)
303
Q

OSTEOGENESIS IMPERFECTA

What are some complications of osteogenesis imperfecta?

A
  • Valvular prolapse + aortic dissection
  • Hernias
  • Osteoporosis
304
Q

OSTEOGENESIS IMPERFECTA

What is the management of osteogenesis imperfecta?

A
  • MDT management
  • Vitamin D supplementation to prevent deficiency
  • Bisphosphonates (IV pamidronate) to increase BMD + reduce #
305
Q

ACHONDROPLASIA
What causes achondroplasia?
What are the genetics?

A
  • Autosomal dominant, abnormal fibroblast growth factor receptor 3 (FGFR-3) gene
  • Homozygous is FATAL so all are heterozygous
306
Q

ACHONDROPLASIA

What is the clinical presentation of achondroplasia?

A
  • Short stature from marked shortening of limbs + fingers
  • Large head with frontal bossing + flattened nasal bridge
  • ‘Trident’ hands + marked lumbar lordosis
307
Q

RICKETS
What is rickets?
What is it caused by?

A
  • Softening of the bones secondary to low vitamin D levels + other minerals that leads to decreased bone mineral content but normal bone mass density
308
Q

RICKETS

What are the causes of rickets?

A
  • Vitamin D deficiency = malabsorption (IBD, coeliac), lack of sunlight, CKD, cirrhosis
  • Inherited = hypophosphataemic rickets
309
Q

RICKETS

What is the clinical presentation of rickets?

A
  • Bone pain
  • Poor growth + development
  • Bowing of legs + knock knees
  • Harrison sulcus at lower ribcage
  • Expansion of metaphyses (especially wrist)
310
Q

RICKETS

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

A
  • Low = vitamin D, calcium + phosphate

- Raised = ALP + PTH

311
Q

RICKETS

What would you expect to see on XR in rickets?

A
  • Translucent bands = looser’s zones

- Cupping, fraying of metaphyses + widened epiphyseal plate

312
Q

RICKETS

What is the management of rickets?

A
  • Prevention = breastfeeding women take vitamin D

- Vitamin D + calcium supplementation for child with specialist input

313
Q

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

A
  • Fixed abnormal ankle position
  • Inverted + plantarflexed
  • Oligohydramnios, cerebral palsy, spina bifida
314
Q

TALIPES

What is the management of talipes equinovarus?

A
  • Ponseti method (manipulate > cast) often followed by Achilles tenotomy
  • Night-time braces (‘boots and bars’) until age 4y
315
Q

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

A
  • Trisomy 21 (3x copies of chromosome 21)

- Increasing maternal age #1 (1 in 100 by 40y, increased nondisjunction)

316
Q

DOWN’S SYNDROME

What are the causes of Down’s syndrome?

A
  • 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
317
Q

DOWN’S SYNDROME

What is the classical craniofacial appearance in Down’s syndrome?

A
  • Flat occiput + flat bridge of nose
  • Upslanting palpebral fissures
  • Prominent epicanthic folds
  • Protruding tongue, small, low-set ears
  • Brushfield spots in iris
318
Q

DOWN’S SYNDROME

What other anomalies can be seen in Down’s syndrome?

A
  • Widely separated first + second toe (sandal gap)
  • Hypotonia
  • Single transverse palmar (simian) crease
  • Short stature + learning difficulties
319
Q

DOWN’S SYNDROME

What are some complications of Down’s syndrome?

A
  • 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
320
Q

DOWN’S SYNDROME

What is the management of Down’s syndrome?

A
  • MDT = paediatrician, audiologist, PT/OT/SALT, educational needs
321
Q

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

A
  • Trisomy 13
  • Microcephaly, small eyes, polydactyly, cleft lip/palate
  • Palate = Patau
322
Q

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

A
  • Trisomy 18

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

323
Q

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

A
  • 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
324
Q

FRAGILE X SYNDROME

What are some cognitive features of fragile X syndrome?

A
  • Autism = speech delay (echolalia), social anxiety + coping mechanisms (hand biting)
  • Learning difficulties
  • Epilepsy
325
Q

FRAGILE X SYNDROME

What are some physical features of fragile X syndrome?

A
  • Long narrow face + large ears
  • Large testicles after puberty
  • Hypermobile joints (esp. hands)
  • Hypotonia
326
Q

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

A
  • Lack of a second X chromosome in a female leading to 45, XO
  • Karyotyping
327
Q

TURNER’S SYNDROME

What is the clinical presentation of Turner’s syndrome?

A
  • Short stature, webbed neck, shield chest + widely spaced nipples (classic)
  • Hypergonadotropic hypogonadism = primary amenorrhoea + delayed puberty
  • Multiple naevi
328
Q

TURNER’S SYNDROME

What are some complications of Turner’s syndrome?

A
  • Cardiac = bicuspid aortic valve, coarctation of aorta, CVD
  • Renal = horseshoe kidney
  • More susceptible to X-linked recessive conditions
  • Hypothyroidism
  • Recurrent otitis media
329
Q

TURNER’S SYNDROME

What is the management of Turner’s syndrome?

A
  • GH therapy to prevent short stature

- Oestrogen replacement for secondary sexual characteristics

330
Q

DUCHENNE’S

What is Duchenne’s muscular dystrophy?

A
  • X-linked recessive gene deletion for dystrophin
331
Q

DUCHENNE’S

What is the clinical presentation of Duchenne’s muscular dystrophy?

A
  • 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)
332
Q

DUCHENNE’S

What are some complications of Duchenne’s muscular dystrophy?

A
  • Immobility by age 12

- Dilated cardiomyopathy + respiratory involvement

333
Q

DUCHENNE’S

What are some investigations for Duchenne’s muscular dystrophy?

A
  • Creatinine kinase markedly raised

- Genetic testing to confirm

334
Q

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

A
  • Becker’s = some functional dystrophin produced

- Features similar but clinically progresses slower

335
Q

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

A
  • When a male has an additional X chromosome, making 47XXY

- Karyotyping

336
Q

KLINEFELTER SYNDROME

What is the clinical presentation of Klinefelter syndrome?

A
  • Taller than average
  • Small testicles + infertility
  • Hypergonadotropic hypogonadism = delayed puberty (no 2º sexual features)
  • Gynaecomastia = increased risk of breast cancer
337
Q

KLINEFELTER SYNDROME

What is the medical management of Klinefelter syndrome?

A
  • Testosterone for 2º sexual characteristics
338
Q

PRADER-WILLI SYNDROME

What is Prader-Willi syndrome?

A
  • Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
339
Q

PRADER-WILLI SYNDROME

What is the clinical presentation of Prader-Willi syndrome?

A
  • Hypotonia during infancy
  • Short stature, hypogonadism + infertility
  • Insatiable hunger = hyperphagia + obesity (marked levels of ghrelin)
  • Strabismus
340
Q

PRADER-WILLI SYNDROME

What is the management of Prader-Willi syndrome?

A
  • GH to improve muscle development + body composition

- Dietician input

341
Q

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

A
  • Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
342
Q

ANGELMAN’S SYNDROME

What is the clinical presentation of Angelman’s syndrome?

A
  • “Happy puppet” = unprovoked laughing, hand flapping
  • Fascination with water
  • Widely spaced teeth, microcephaly
343
Q

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

A
  • Autosomal dominant, normal karyotype
  • Short stature, webbed neck, widely spaced nipples (male Turner’s)
  • Low set ears
  • Ptosis
  • Hypertelorism (wide space between eyes)
344
Q

NOONAN’S SYNDROME

What are some complications of Noonan’s syndrome?

A
  • CHD = pulmonary valve stenosis
  • Cryptorchidism
  • LDs
  • Bleeding disorders (XI deficient)
345
Q

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

A
  • Microdeletion on chromosome 7
  • Very friendly + sociable personality
  • Elfin-like facies = big smile, widely spaced teeth
  • Starburst eyes (star-pattern on iris)
  • Short stature
346
Q

WILLIAM’S SYNDROME

What are some complications of William’s syndrome?

A
  • Supravalvular aortic stenosis

- Transient neonatal hypercalcaemia

347
Q

MARFAN’S SYNDROME

What is Marfan’s syndrome?

A
  • Autosomal dominant connective tissue disorder caused by fibrillin-1 deficiency
348
Q

MARFAN’S SYNDROME

What is the clinical presentation of Marfan’s?

A
  • Tall stature
  • High-arched palate
  • Arachnodactyly (long fingers)
  • Pectus excavatum + pes planus
  • Kyphoscoliosis
349
Q

MARFAN’S SYNDROME

What are some complications of Marfan’s?

A
  • Cardio = dilation of aortic sinuses > aortic aneurysm, dissection, AR or mitral valve prolapse
  • Resp = repeated pneumothoracies
  • Ophthalm = upwards lens dislocation
  • Neuro = dural ectasia
350
Q

MARFAN’S SYNDROME

What is the management of Marfan’s?

A
  • Regular echocardiograms

- Beta-blocker/ACEi therapy

351
Q

EHLERS-DANLOS

What is Ehlers-Danlos syndrome?

A
  • AD connective tissue disorder due to elastin defect affecting type 3 collagen
352
Q

EHLERS-DANLOS

How does Ehlers-Danlos syndrome present?

A
  • Elastic, fragile skin
  • Joint hypermobility
  • Excessive bruising
  • Brain aneurysms (SAH)
353
Q

DEVELOPMENTAL STAGES

How do the developmental milestones correspond with prematurity?

A
  • Adjust for prematurity up to 2 years
354
Q

DEVELOPMENTAL STAGES

What are the 4 domains of development?

A
  • Gross motor
  • Fine motor/vision
  • Speech and language
  • Social
355
Q

DEVELOPMENTAL STAGES
In terms of gross motor development, what would you expect at…

i) 6w?
ii) 6m?
iii) 9m?

A

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

356
Q

DEVELOPMENTAL STAGES
In terms of gross motor development, what would you expect at…

i) 12m?
ii) 18m?
iii) 2y?

A

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

357
Q

DEVELOPMENTAL STAGES
In terms of gross motor development, what would you expect at…

i) 2.5y?
ii) 3y?
iii) 4y?

A

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

358
Q

DEVELOPMENTAL STAGES
In terms of fine motor/vision development, what would you expect at…

i) 6w?
ii) 6m?
iii) 9m?

A

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

359
Q

DEVELOPMENTAL STAGES
In terms of fine motor/vision development, what would you expect at…

i) 12m?
ii) 18m?
iii) 2y?

A

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

360
Q

DEVELOPMENTAL STAGES
In terms of fine motor/vision development, what would you expect for a…

i) 2.5y?
ii) 3y?
iii) 4y?

A

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

361
Q

DEVELOPMENTAL STAGES
In terms of fine speech + language development, what would you expect at…

i) 6w?
ii) 6m?
iii) 9m?

A

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”

362
Q

DEVELOPMENTAL STAGES
In terms of fine speech + language development, what would you expect at…

i) 12m?
ii) 18m?
iii) 2y?

A

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

363
Q

DEVELOPMENTAL STAGES
In terms of fine speech + language development, what would you expect at…

i) 2.5y?
ii) 3y?
iii) 3.5y?
iv) 4y?

A

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”

364
Q

DEVELOPMENTAL STAGES
In terms of social development, what would you expect at…

i) 6w?
ii) 6m?
iii) 9m?

A

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

365
Q

DEVELOPMENTAL STAGES
In terms of social development, what would you expect at…

i) 12m?
ii) 18m?
iii) 2y

A

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

366
Q

DEVELOPMENTAL STAGES
In terms of social development, what would you expect at…

i) 3y?
ii) 4y?

A

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)

367
Q

DEVELOPMENTAL STAGES

What are the primitive reflexes?

A
  • Moro (startle)
  • Grasp (palmar/plantar)
  • Rooting
  • Stepping
368
Q

DEVELOPMENTAL STAGES
Explain the following primitive reflexes…

i) moro
ii) grasp
iii) rooting
iv) stepping

A

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

369
Q

DEVELOPMENTAL STAGES

What are the postural reflexes?

A
  • Parachute
  • Labyrinthine
  • Lateral propping
370
Q

DEVELOPMENTAL STAGES
Explain the following postural reflexes…

i) parachute
ii) labyrinthine
iii) lateral propping

A

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

371
Q

DEVELOPMENTAL STAGES

What is the relevance of the primitive and postural reflexes?

A
  • Persistence of primitive reflexes + lack of development of postural reflexes is the hallmark of UMN abnormality in the infant (cerebral palsy)
372
Q

DEVELOPMENTAL DELAY

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

A
  • Prenatal = genetic (Down’s, fragile X), TORCH, teratogens
  • Perinatal = prematurity (IVH), birth asphyxia (HIE), jaundice > kernicterus
  • Postnatal = meningitis, anoxia, head trauma
373
Q

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

A
  • Slow development in all developmental domains
  • Presents in first 2y of life
  • Down’s, fragile X, foetal alcohol syndrome
374
Q

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

A
  • Slow development in gross motor domain

- Cerebral palsy, spina bifida + visual impairment

375
Q

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

A
  • Slow development in fine motor domain

- Cerebral palsy, muscular dystrophy, visual impairment

376
Q

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

A
  • Slow development in speech + language domain

- DDx = environment (language, siblings talk), hearing impairment, autism, cleft palate

377
Q

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

A
  • Slow development in social domain

- Autism, emotional/social neglect

378
Q

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

A
  • Permanent disorder of movement + posture due to a non-progressive lesion of motor pathways in the developing brain
379
Q

CEREBRAL PALSY

What are the causes of cerebral palsy?

A
  • Antenatal (80%) = congenital malformations or infections (CMV, rubella)
  • Intrapartum (10%) = hypoxic-ischaemic injury (birth asphyxia)
  • Postnatal (10%) = IV haemorrhage, meningitis, trauma
380
Q

CEREBRAL PALSY

What are some early features of cerebral palsy?

A
  • Abnormal tone in early infancy + abnormal gait
  • Primitive reflexes beyond 6m
  • Delayed motor milestones
  • Hand preference <12m
381
Q

CEREBRAL PALSY

What are some non-motor presentations of cerebral palsy?

A
  • Learning difficulties
  • Epilepsy
  • Squints
  • Hearing impairment
382
Q

CEREBRAL PALSY

What are the 4 broad types of cerebral palsy?

A
  • Spastic (70%)
  • Ataxic (10%)
  • Dyskinetic (athetoid, 10%)
  • Mixed (10%)
383
Q

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

A
  • UMN pyramidal pathways damaged so UMN signs
  • Clasp knife spasticity (velocity-dependent)
  • Brisk tendon reflexes + extensor plantars (+ Babinski)
384
Q

CEREBRAL PALSY

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

A
  • 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
385
Q

CEREBRAL PALSY

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

A
  • Hemiplegic = presents 4–12m, normal birth with no HIE
  • Quadriplegic = Hx of HIE
  • Diplegia = periventricular brain damage (linked with preterm)
386
Q

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

A
  • Damage to cerebellum so cerebellar signs

- Most genetically determined, can be acquired brain injury

387
Q

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

A
  • Intellect relatively unimpaired as basal ganglia affected
  • Athetoid movements
  • Oro-motor problems
  • Chorea + dystonia
388
Q

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

A
  • Slow, writhing movements of fingers

- Kernicterus + HIE

389
Q

CEREBRAL PALSY

What are the investigations of cerebral palsy?

A
  • Clinical Dx
  • Functional ability judged by Gross Motor Function Classification System (GMFCS)
  • MRI head for ?cause but not needed to Dx
390
Q

CEREBRAL PALSY

What is the management of cerebral palsy?

A
  • MDT = physio/OT, SALT

- Spasticity = PO/IT baclofen, botulinum toxin, PO diazepam, surgery

391
Q

STRABISMUS
What is strabismus?
Is it normal?

A
  • Misalignment of visual axis (squint)

- Transient neonatal misalignments common in first few months when looking at near objects

392
Q

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

A
  • Concomitant (common) = often refractive error (hypermetropia or myopia)
  • Paralytic (rare) = paralysis in extra-ocular muscles (?SOL, ?retinoblastoma)
393
Q

STRABISMUS

What is the difference between a manifest and latent strabismus?

A
  • Manifest = present when views a target binocularly

- Latent = binocular vision interrupted

394
Q

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

A
  • Esotropia = inward moving (cross-eyed)
  • Exotropia = outward moving
  • Hypertropia = upward moving
  • Hypotropia = downward moving
  • Latent is same but -phoria not -tropia (esophoria etc)
395
Q

STRABISMUS

What are some investigations for strabismus?

A
  • (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
396
Q

STRABISMUS

Explain the cover test

A
  • Cover eye + observe the other eye for a shift in fixation

- Direction of shift indicates the type of tropia

397
Q

STRABISMUS

Explain the cover-uncover test

A
  • 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)
398
Q

STRABISMUS

Explain the corneal light reflex test

A
  • Shine a pen torch in the eyes

- Reflection of light should appear in the same position in both eyes

399
Q

STRABISMUS

What is a key complication of strabismus?

A
  • Amblyopia = permanent reduction of visual acuity in an eye that has not received a clear image
400
Q

STRABISMUS

What is the management of strabismus?

A

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)
401
Q

HEARING

What hearing tests are offered in children at various ages?

A
  • 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
402
Q

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

A
  • Seizures provoked by a fever in otherwise normal children
  • 6m–5y
  • Early in viral infection as temperature rises rapidly, classically roseola infantum
403
Q

FEBRILE CONVULSIONS

What are the three main types and their differences?

A
  • Simple = generalised seizure, <15m, no recurrence within 24h, recovery within 1h
  • Complex = focal, 15–30m, may recur within 24h
  • Febrile status epilepticus = seizure >30m
404
Q

FEBRILE CONVULSIONS

What are some complications of febrile convulsions?

A
  • Do not typically have lasting damage
  • 1 in 3 have another
  • Epilepsy more common in complex feb con
405
Q

FEBRILE CONVULSIONS

What is the general management of febrile convulsions?

A
  • Admit to paeds for observation if first seizure or complex
406
Q

FEBRILE CONVULSIONS

What is the post-admission management for febrile convulsions?

A

Parental education

  • Call ambulance if lasts >5 minutes
  • Teach how to use PR diazepam/buccal midazolam
  • Regular antipyretics do not reduce chances
407
Q

EPILEPSY

What are 4 epilepsy syndromes seen in children?

A
  • Infantile spasms (West’s syndrome)
  • Lennox-Gastaut syndrome
  • Juvenile myoclonic epilepsy
  • Benign Rolandic epilepsy
408
Q

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

A
  • 4–8m, M>F, often 2º to neuro abnormality e.g., tuberous sclerosis
  • First line = vigabatrin, may use steroids
409
Q

EPILEPSY

What are the 3 components to infantile spasms?

A
  • 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
410
Q

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

A
  • 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
411
Q

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

A
  • 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
412
Q

EPILEPSY
How does benign rolandic epilepsy present?
Epidemiology?

A
  • Paraesthesia (unilateral face) on waking up

- M>F

413
Q

‘FUNNY TURNS’
What is a reflex anoxic seizure?
What is the cause?

A
  • (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
414
Q

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

A
  • Child goes very pale > falls to floor > may have brief generalised seizure > rapid recovery
  • Reassure parents
415
Q

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

A
  • 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
416
Q

DISORDERS
Name 2 neurocutaneous disorders
Mode of inheritance?

A
  • Neurofibromatosis (type 1 + 2) + tuberous sclerosis

- AD

417
Q

NEUROFIBROMATOSIS

What is the clinical presentation of neurofibromatosis 1?

A
  • No intellectual problems
  • > 5 café-au-lait spots
  • Axillary/groin freckling
  • Pheochromocytoma
  • Ocular hamartomas = iris
  • Peripheral neurofibromas
418
Q

NEUROFIBROMATOSIS

What is the clinical presentation of neurofibromatosis 2?

A
  • Hearing problems with no skin involvement
  • Bilateral acoustic neuromas
  • Multiple intracranial schwannomas, meningiomas
419
Q

TUBEROUS SCLEROSIS

What are the cutaneous features of tuberous sclerosis?

A
  • 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
420
Q

TUBEROUS SCLEROSIS

What are some other features of tuberous sclerosis?

A
  • Neuro = epilepsy (infantile spasms or partial), developmental delay + intellectual impairment
  • Ocular hamartoma = retinal
  • Polycystic kidneys
421
Q

NEURAL TUBE DEFECTS

What are neural tube defects associated with?

A
  • Insufficient folic acid
  • Sibling with spina bifida
  • AEDs
422
Q

NEURAL TUBE DEFECTS

What are the three types of spina bifida?

A
  • 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
423
Q

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

A
  • Failure of fusion of the vertebral arch, often incidental XR finding
  • Site may have identifiable birthmark, lipoma or hair patch (lumbar)
  • Neurosurgery
424
Q

NEURAL TUBE DEFECTS

How might spina bifida present?

A
  • Identifiable birth mark, lipoma or hair patch (lumbar area)
425
Q

NEURAL TUBE DEFECTS

What are some complications of spina bifida?

A
  • Motor/sensory deficits
  • Neurogenic bladder/bowel
  • Hydrocephalus
  • Seizures
426
Q

NEURAL TUBE DEFECTS

What is the management of spina bifida?

A
  • Folic acid prophylaxis (0.4mg normal, 5mg high risk)

- Primary neurosurgical/orthopaedic repair

427
Q

CONGENITAL HYPOTHYROIDISM

What is the epidemiology of congenital hypothyroidism?

A
  • Affects 1 in 3000 births + causes severe neurological dysfunction
428
Q

CONGENITAL HYPOTHYROIDISM

What are the three main causes of congenital hypothyroidism?

A
  • Worldwide = iodine deficiency
  • UK = failure in thyroid development or migration
  • Consanguineous families = dyshormonogenesis (inborn error of thyroid hormone synthesis) > goitre due to TSH stimulation
429
Q

CONGENITAL HYPOTHYROIDISM

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

A
  • Agenesis
  • Small lump at base of tongue (lingual thyroid)
  • Small lump somewhere in path of migration (dysgenesis)
430
Q

CONGENITAL HYPOTHYROIDISM

What is the clinical presentation of congenital hypothyroidism?

A
  • Prolonged neonatal jaundice
  • Puffy face, macroglossia + hypotonia
  • Delayed mental + physical milestones
  • Failure to thrive + feeding problems
431
Q

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

A
  • Picked up on Guthrie neonatal bloodspot test
  • TFTs = high TSH, ?USS neck or thyroid isotope scan
  • Lifelong levothyroxine to prevent neurological complications
432
Q

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?

A
  • 60% infratentorial, almost always primary (unlike adults)
  • Astrocytoma = benign > glioblastoma multiforme
  • Medulloblastoma = midline of posterior fossa, may have spinal mets, gives cerebellar signs
433
Q

NEUROBLASTOMA

What is a neuroblastoma? Epidemiology?

A
  • Arise from neural crest tissue in the adrenal medulla + sympathetic nervous system, most common <5y
434
Q

NEUROBLASTOMA

What is the clinical presentation of neuroblastoma?

A
  • Abdominal pain + hepatomegaly
  • Weight loss, pallor, bone pain
  • Paraplegia, proptosis
435
Q

NEUROBLASTOMA

How does the abdominal mass present?

A
  • Often crosses midline + envelopes major vessels + lymph nodes
  • Can grow very large
  • Classically abdo primary is of adrenal origin
436
Q

NEUROBLASTOMA

What are the investigations for neuroblastoma?

A
  • Raised urinary catecholamine metabolites levels
  • Confirmatory biopsy + bone marrow sampling
  • Metastatic check = MIBG scan
437
Q

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

A
  • Surgical removal or chemo + stem cell therapy if metastatic
  • Good prognosis but metastatic relapse rate high
438
Q

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

A
  • Nephroblastoma that originates from embryonal renal tissue, <5y
  • FHx = Wilm’s tumour susceptibility gene
439
Q

WILM’S TUMOUR

What is the clinical presentation of a Wilm’s tumour?

A
  • Large abdominal mass found incidentally that does not cross midline = #1
  • May have painless haematuria, flank pain, fever
440
Q

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

A
  • USS + CT CAP showing intrinsic renal mass distorting the normal structure, biopsy
  • Radical nephrectomy, post-op chemo
441
Q

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

A
  • Most common is rhabdomyosarcoma
  • Head + neck common site = proptosis, nasal obstruction, epistaxis
  • GU = dysuria, urinary obstruction, scrotal mass, PV bloody discharge
442
Q

SOFT TISSUE SARCOMAS

What is the management of soft tissue sarcomas?

A
  • Biopsy + full radiological assessment

- Multimodality = chemo, radiotherapy + surgery

443
Q

RETINOBLASTOMA

What is a retinoblastoma?

A
  • Malignant tumour of retinal cells which can lead to severe visual impairment
444
Q

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

A
  • Retinoblastoma susceptibility gene on chromosome 13 = AD

- All bilateral tumours are hereditary, 20% of unilateral are

445
Q

RETINOBLASTOMA

What is the clinical presentation of retinoblastoma?

A
  • Loss of red-reflex, replaced with white (leukocoria) = #1

- Strabismus + decreased visual acuity

446
Q

RETINOBLASTOMA

What is the management of retinoblastoma?

A
  • Screened for in NIPE, MRI + examine under anaesthetic, biopsy avoided
  • Can trial, chemo, radiotherapy or if severe enucleation
447
Q

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

A
  • Mostly hepatoblastoma or hepatocellular carcinoma

- Abdo distension or mass common, pain + jaundice rare

448
Q

LIVER TUMOURS

How are liver tumours managed?

A
  • Elevated AFP, biopsy

- Chemo, surgery or liver transplantation if inoperable

449
Q

LCH

What is Langerhans cell histiocytosis (LCH)?

A
  • Abnormal proliferation of histiocytes

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

450
Q

LCH

What is the clinical presentation of LCH?

A
  • Bone pain = skull or proximal femur
  • Cutaneous nodules
  • Recurrent otitis media/mastoiditis
  • Systemic =aggressive, seborrhoeic rash
451
Q

LCH

What are some investigation findings and the management of LCH?

A
  • XR = ‘punched out’ osteolytic lesion, often skull
  • Birbeck (tennis-racket shaped) granules on electron microscopy
  • Systemic responds to chemo
452
Q

PROTEINURIA

What are some causes of proteinuria?

A
  • Orthostatic = #1
  • Transient = febrile illness, after exercise = no Ix
  • Nephrotic syndrome
  • HTN
453
Q

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

A
  • IgA mediated small vessel vasculitis (Berger’s disease)

- 3-10y, M>F, preceded by URTI or gastroenteritis

454
Q

HSP

What is the clinical presentation of HSP?

A

Four key features

  • Palpable purpuric rash on extensor surfaces of lower limbs + buttocks
  • Polyarthritis
  • Abdominal pain
  • Renal involvement = IgA nephropathy (haematuria, proteinuria)
455
Q

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

A
  • Clinical Dx but if concerns re non-blanching rash = Ix
  • Admit for supportive = analgesia
  • Usually self-limiting, 1/3rd relapse
456
Q

HUS

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

A
  • Microangiopathic haemolytic anaemia
  • AKI
  • Thrombocytopaenia
457
Q

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

A
  • Mostly E. Coli 0157 producing Shiga toxin, can be Shigella
  • Recently gone to petting farm
458
Q

HUS

What is the clinical presentation of HUS?

A
  • Prodrome of bloody diarrhoea + vomiting
  • Abdominal pain + low grade pyrexia
  • Urine = oliguria/anuria, haematuria
459
Q

HUS

What are some investigations for HUS?

A
  • FBC (anaemia, thrombocytopenia)
  • Reticulocytes + schistocytes on blood film
  • U+Es reveal AKI
  • Stool culture for E. Coli 0157
460
Q

HUS

What is the management of HUS?

A
  • 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
461
Q

HYPOSPADIAS
What is hypospadias?
What is epispadias?

A
  • Urethral meatus is abnormally displaced posteriorly on the penis
  • Meatus displaced anteriorly on top of the penis
462
Q

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

A
  • Ventral urethral meatus
  • Hooded prepuce
  • Chordee (ventral or downwards curvature of the penis in more severe forms)
  • Associated with cryptorchidism + inguinal hernia
463
Q

HYPOSPADIAS

What is the management of hypospadias?

A
  • Do NOT circumcise as foreskin often needed for later reconstructive surgery
  • Surgery done at 12m to correct position of meatus + straighten penis
464
Q

CRYPTORCHIDISM
What is cryptorchidism?
What are some risk factors?

A
  • Undescended testis that has failed to reach bottom of scrotum by 3m
  • Prematurity, FHx, maternal smoking in pregnancy
465
Q

CRYPTORCHIDISM

What are the 3 types of cryptorchidism?

A
  • Retractile (normal variant in prepubescent boys)
  • Palpable
  • Impalpable
466
Q

CRYPTORCHIDISM

What is retractile cryptorchidism?

A
  • Testis manipulated into scrotum without tension but then retracts when released as pulled by cremaster muscle
467
Q

CRYPTORCHIDISM
What is palpable cryptorchidism?
What is impalpable cryptorchidism?

A
  • Testis palpated in groin but cannot be manipulated into scrotum
  • No palpable testis
468
Q

CRYPTORCHIDISM

What are some investigations for cryptorchidism?

A
  • USS in bilateral impalpable testes to verify internal pelvic organs
  • Laparoscopy = Ix of choice for impalpable
469
Q

CRYPTORCHIDISM

What are some complications of cryptorchidism?

A
  • Fertility = testis needs to be below body temp for spermatogenesis
  • Malignancy = risk of seminoma
  • Cosmetic appearance
  • Risk of testicular torsion
470
Q

CRYPTORCHIDISM

What is the management of cryptorchidism that has not resolved?

A
  • 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
471
Q

UTI

What are some causes of UTI in paeds?

A
  • # 1 = E. coli
  • Proteus (M>F, predisposes to phosphate urinary stones)
  • Pseudomonas (may indicate structural abnormality)
472
Q

UTI

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

A
  • Can become resistant to penicillin by producing beta-lactamase (ESBL E. Coli)
473
Q

UTI

What are some risk factors for UTI?

A
  • Incomplete bladder emptying (constipation, infrequent voiding)
  • Vesico-ureteric reflux
  • Poor toilet hygiene (e.g., not wiping front>back in girls)
474
Q

UTI

What is the clinical presentation of UTI?

A
  • Infants (non-specific) = poor feeding, vomiting, irritability, fever, D+V
  • Younger/older children present similarly to adults
475
Q

UTI

What are some investigations for UTI?

A
  • Urinalysis for nitrites, leukocytes esterase

- Urine sample MC&S = MSU clean catch #1 if not urine collection pads

476
Q

UTI

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

A
  • Within 6w = 1st UTI and <6m but responds well to Rx within 48h
  • During illness = recurrent or atypical bacteria
477
Q

UTI

When would you consider admission in UTI?

A
  • <3m
  • Systemically unwell
  • Significant risk factors for ?septic screen
478
Q

UTI

What is the management of UTI?

A
  • > 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
479
Q

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

A
  • ≥2 UTIs with at least 1 with systemic Sx (or ≥3 without)

- Renal scarring > predisposes to HTN + CKD

480
Q

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

A
  • USS
  • DMSA scan (renal scarring 4-6m)
  • Micturating cystourethrogram (<6m) if FHx of vesico-ureteric reflux, dilatation of ureter on USS, poor urinary flow
481
Q

UTI

What is vesico-ureteric reflux?

A
  • 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
482
Q

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

A
  • Hydronephrosis, recurrent UTIs, reflux nephropathy
  • MCUG, DMSA for scarring
  • Avoid constipation, prophylactic Abx, ?surgery
483
Q

UT ABNORMALITIES

Name 5 urinary tract abnormalities

A
  • Renal agenesis
  • Multicystic dysplastic kidney
  • Polycystic kidney disease
  • Pelvic/horseshoe kidney
  • Posterior urethral valves = bilateral hydronephrosis
484
Q

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

A
  • 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
485
Q

UT ABNORMALITIES

How does Potter syndrome present?

A
  • Low-set ears, beaked nose + downward slant to eyes
486
Q

UT ABNORMALITIES

What is multicystic dysplastic kidney?

A
  • Non-functioning structure with large fluid-filled cysts with no renal tissue or connection with bladder
487
Q

CIRCUMCISION
What is phimosis?
What is paraphimosis?

A
  • Inability to retract foreskin > physiological at birth (ballooning on urination)
  • Can be retracted but need adequate analgesia
488
Q

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

A
  • Whitish scarring on foreskin <5y
  • Localised skin disease balanitis xerotica obliterans (BXO), can also involve glans penis + can cause urethral meatal stenosis
  • Circumcision
489
Q

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

A
  • 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
490
Q

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

A
  • (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
491
Q

ALLERGY

What is the Gell and Coombs hypersensitivity classification?

A
  • 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
492
Q

ALLERGY

Give an example for each type of hypersensitivity reaction

A
  • T1 = Anaphylaxis, atopy
  • T2 = Pernicious anaemia, rheumatic fever, goodpasture’s, transfusion reactions
  • T3 = SLE, HSP, post-strep glomerulonephritis
  • T4 = TB, contact dermatitis, MS
493
Q

ALLERGY

What are some investigations that can be done in allergy?

A
  • 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
494
Q

CMPA
How is cow’s milk protein allergy (CMPA) sub-typed?
Epidemiology?

A
  • 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
495
Q

CMPA

What is the clinical presentation of CMPA?

A
  • GI = D+V, abdo pain, failure to thrive, bloating

- Allergic = urticaria, cough, wheeze, pruritus

496
Q

CMPA

What are the investigations for CMPA?

A
  • IgE mediated = skin prick tests + RAST for cow’s milk protein
  • Gold standard if doubt = elimination diet under dietician supervision
497
Q

CMPA

What is the management for CMPA in formula fed infants?

A
  • Extensive hydrolysed formula (eHF) = first line if mild-mod
  • Amino acid-based formula = severe CMPA or no response to eHF
498
Q

CMPA

What is the management of CMPA in breastfed infants?

A
  • 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
499
Q

CHILD ABUSE

What are some risk factors for child abuse?

A
  • 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
500
Q

CHILD ABUSE
What is neglect?
How may it present?

A
  • Failure to meet a child’s basic physical + psychological needs
  • Poor standards of hygiene that affects health, unsafe living conditions
501
Q

CHILD ABUSE

How might sexual abuse present?

A
  • PV/PR bleed or itching
  • STI
  • Sexualised behaviour in prepubertal child
502
Q

CHILD ABUSE

How might physical abuse present?

A
  • # = 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
503
Q

CHILD ABUSE

What features in the history are suspicious for child abuse?

A
  • Injuries inconsistent with developmental stage
  • Delayed presentation + repeated A&E attendances
  • Story inconsistent with injuries
504
Q

CHILD ABUSE

What is the management for suspected child abuse?

A
  • FBC, clotting screen, bone profile, radiology
  • If suspected > hospital admission, can break confidentiality, CPS, examine other children
  • Fundoscopy for retinal haemorrhages
505
Q

CHILD ABUSE
Why do you perform fundoscopy?
Other features?

A
  • Shaken baby syndrome = retinal haemorrhages, subdural haematoma + encephalopathy
506
Q

FAS

What are some features of foetal alcohol syndrome?

A
  • Microcephaly
  • Thin upper lip, small eyes, smooth philtrum
  • LD + cardiac malformations
  • Can have alcohol withdrawal Sx a birth = irritable, hypotonic, tremors

FINALS (20 decks)

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