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1

2

What is the medical term for croup?

Laryngotracheobronchitis

3

What is the typical presentation and clinical course of croup?

1 - 2 days of coryza. On the 2nd or 3rd night / early morning, awake with a barking cough. Stridor might develop after that. Barking cough / stridor only lasts 2-3 days. Viral symptoms last 7 days

4

What is the typical microorganism which causes croup?

Parainfluenza virus

5

What is the management of croup?

1. Basics - minimal handling. Supplemental oxygen or respiratory support if required in severe cases. 2. Place and person - admit to hospital if worried about increased WOB or hypoxia. 3. Investigations and definitive diagnosis - clinical diagnosis 4. Management - oral prednisolone (1mg/kg), oral dexamethasone (0.15 - 0.6 mg/kg), IV dexamethasone (0.2mg/kg), nebulised adrenaline (1:1000), ETT 5. Long term

6

What are the two main types of croup?

Acute viral croup or recurrent spasmodic croup

7

What are the symptoms of epiglottis?

The four Ds Dysphagia Dyphonia Drooling Dyspnoea

8

What is the most common microorganism which causes epiglottis?

H. influenzae B

9

What is the most common microorganism which causes bacterial tracheitis?

Staphylococcus aureus (now more common than epilglottitis due to Hib vaccine)

10

what is the dosage of ipatropium bromide given in moderate / severe acute exacerbations of asthma?

6 yo give 8 puffs with salbutamol burst therapy (every 20 minutes for one hour)

11

What are the signs of respiratory distress in a child?

(Hint there are 7)

7 SIGNS OF INCREASED WOB IN KIDS

(general inspection -> obs -> hands -> face -> neck -> chest)

—Cyanosis
—Tachypnoea
—Head bobbing (younger kids)
—Grunting
—Nasal flare
—Tracheal tug
—Intercostal and subcostal recession

12

What is the pathophysiology of bronciolitis?

Inflammation of the bronchioles

Often caused by infections with RSV

13

What is the usual causative microorganism of brinchiolitis?

RSV

14

In what age group is bronchiolitis most common?

15

What does RSV tend to cause?

Bronchiolitis

16

What does parainfluenza virus usually cause?

croup

17

What is the typical presentation of Bronchiolitis?

Child

URTI + asthma like symptoms [cough, dyspnoea, wheeze]

(remember, can't diagnose asthma

18

What would you consider for "Place and Person" in a child with bronchiolitis, when deciding whether or not to admit them?

  • Oxygen requirement - if requiring oxygen to maintain SpO2 > 93% admit
  • Apnoeic episodes - marker of severity
  • Behaviour - poor feeding, lethargy and irritability are signs of severity
  • Work of breathing

20

What is the management of bronchiolitis?

Basics

  • DRABC
  • Vital Signs

Place and Person

  • Assess severity
  • If increased WOB, requiring O2 to maintain SpO2 > 93%, apnoeas or lethargy/poor feeding/irritabilty --> ADMIT [if RURAL - if parents are anxious / nervous / "irresponsible" or if live far away]

Ix and confirm diagnosis

  • Usually aclinical diagnosis
  • If diagnostic uncertainty, can do CXR

Definitive Management

  • Supportive management
    • Minimal handling and frequent feeds'
  • Oxygen via NP / HFNP
  • NGT / IV fluids if poor feeding
  • Can be discharged once maintaining adequate oxygenation and adequate feeding
  • Can triabl salbutamol if 2 years old to see if salbutamol responsive

Follow Up

  • Follow up with GP
  • Educate RE signs to return (apnoeic, lethargic, poor feeding, wheeze, increased WOB)

21

Braking cough = ?

Croup

Laryngotracheobronchitis

22

What are the causative microorganisms of croup?

95% is Parainfluenza

Can be bacterial (H. influenzae, S. aureus) = bacterial tracheitis

23

BONUS WOMENS QUESTION

What are the causes of menorrhagia?

Bleeding disorder

Iatrogenic (IUDs and drugs)
Thyroid dysfunction (especially hypo)
Cancer (Endometrial, cervical)
Hyperplasia of the endometrium
Fibroids (leiomyomata) and polyps
Adenomyosis and endometriosis
Chlamydia, gonorrhea and STIs
Ectopics, miscarriage, pregnancy

24

At what age do you get croup?

6 months - 6 years

25

What are the typical symptoms/ signs of croup?

 

What is added to make this bacterial tracheitis?

URTI followed by barking cough, hoarse voice, wheeze [even though LRTI], increased WOB

 

If there is also high fever + toxic looking child --> consider BACTERIAL TRACHEITIS [OR EPIGLOTTITIS FOR THAT MATTER?!]

26

What is the management of croup?

Basics

  • DRABC
  • Vitals

Place and Person

  • Do they need to be admitted?
    • Stridor at rest
    • Requiring O2 - VERY LATE SIGN
    • Increased lethargy/irritability
    • Poor feeding
    • Live far away [rural]
    • Parents don't seem "sensible" [rural]

Ix and Confirm Diagnosis

  • Want to avoid over-investigating because can worsen
  • CXR if uncertainty: steeple sign if severe

Definitive management

  • Mild: D/C home and supportive care. Freqeunt small feeds and minimal handling
  • Moderate:
    • Oral corticosteroids:
      • 1mg/kg prednisolone
      • 0.15mg/kg dexamethasone
  • Severe:
    • Nebulised adrenaline
    • plus oral steroids as above

Follow Up

  • DC once no stridor at rest
  • Follow up with GP a few days later
  • Educate RE signs to come back in

27

What are the markers of severity for croup?

Stridor at rest

 

Poor feeding

Lethargy / irritability

Increased WOB

Reduced SpO2 is a very late sign

28

What is the aetiology of epiglottitis?

Haemophillus infleunzae

 

Or, if immunised, more likelt to be

Beta haemolytic strep

Moraxella catarrhalis

Strep pneumoniae

29

What are the causes of epiglottitis in an immunised child?

Group A Strep

Moraxella Catarrhalis

Streptococcus Pneumoniae

30

How do you differentiate between croup and epiglottitis?

Croup

  • sickness comes on over a few days
  • Preceeding URTI symptoms
  • Not usually with high fever
  • Miserable
  • Loud, barking, brassy cough
  • Loud, harsh stridor
  • Hoarse voice
  • Able to drink, not drooling

 

Epiglottitis

  • Comes on suddenly
  • No preceeding URTI symptoms
  • High fever
  • Flat / flopppy
  • Soft, muffled cough
  • Soft stridor
  • Quiet voice, reluctant to speak / dysarthria
  • Dysphagia and drooling

31

What is the management of epiglottits!

 

Straight to ED

Secure the airway (be prepared to perform a crycothyroidectomy)

Take bloods once intubated

Empiral antibiotics (Ceftriaxone)

 

Treat contacts with Rifampicin prophylactically

32

What is the aetiology of cystic fibrosis?

autosomal recessive mutation on chromosome 7

inteferes with CFTR gene which cuases altered ion transportation across epithelial cells

33

What are the clinical features of CF?

Respiratory

  • Thickened secretions
    • Recurrent infections
    • Bronchiectasis
    • Recurrent pneumothroacies
    • ABPA
  • Nasal polyps
  • Chronic sinusitis

Pancreas

  • Exocrine insufficiency (which then blocks the endocrine ducts)
  • Malabsorption
  • Steatorrhea
  • Failure to thrive
  • Recurrent pancreatitis
  • T1DM

Hepatobiliary System

  • Prolonged neonatal jaundice
  • Hepatic cirrhosis
  • Portal HT
  • Fat soluble vitamin deficiency (vitamin ADEK)
  • Recurrent cholecystitis

GIT

  • Meconium ileus
  • DIOS

Reproductive system

  • Absence of vas deferens
  • Delayed puberty due to malnutrition
  • Infertility

34

What is involved in testing for CF using the Gutehrie Test?

  1. First Test for IRT (immunorecative trypsinogen level)
  2. If this is high - then test for CFTR

35

What is the screening test for CF?

What is the diagnostic test?

Screening test = Gutherie Heel Prick (IRT & CFTR)

Diagnostic Test = Sweat Test

36

If you had a child with symptoms of CF, what FIRST investigation would you order?

Sweat Test

(Sweat chloride levels >60mmol/L = diagnostic of CF)

 

NOT the heel prick test, this is a screening test

37

What is the overall management of CF?

Basics

  • Explain there is NO CURE - only manage potential complications

Place and Person

  • Referral to paediatrician, respiratory physician, allied health including physiotherapists and dieticians

Ix and CD

  • Sweat Test if not already done

Definitive Management:

Think of each system

  • Respiratory
    • physiotherapy
    • aerolysed mucolytics
    • ABx if infection, also given resuce antibiotics
    • Lung transplant (last line)
  • GIT & Pancreas
    • High calorie diet
    • Pancreatic enzyme replacement (Creon)
    • Fat solumble vitamin replacement (A,D,E,K)
    • Salt replacement occasionally
    • Insulin later in life

Prevntative / Ongoing

  • Flu vaccine
  • Pneumococcal vaccine
  • NO SMOKING
  • Avoid sick people
  • Regular follow up
    • Yearly mucous cultures taken (and at every exacerbation). Eventually get infected with pseudomonas.
  • DEXA scan at puberty
  •  

38

How do you classify asthma in cenhildr?

Infreuent intermittent

  • Attacks less often than every 6 weekly
  • No interval symptoms

Frequent intermittent

  • Attacks more often than every 6 weekly
  • No interval symptoms

Persistent

  • Attacks more often than every 6 weekly
  • Mild: Interval symptoms fewer than 1 x per week
  • Moderate: interval symptoms 1 x per week
  • Severe: interval symptoms >1 x per week

39

How do you classify infrequent intermittent asthma?

Attacks less often than every 6 weeks

No interval symptoms

40

How do you classify frequent intermittent asthma?

Attacks more often than every 6 weeks

No interval symptoms

41

How do you classify mild persistent asthma?

attacks more frequent than every 6 weeks

interval symptoms less than once per week

42

How do you classify severe persistent asthma?

Attacks more frequently than every 6 weeks

Interval symptoms more than once per week

43

How do you classify moderate persistent asthma?

Attacks more frequently than every six weeks

Interval symptoms 1 x per week

44

What are interval symptoms?

What else can you ask to grade the severity of asthma?

Interval Symptoms

Night cough / wheeze
Morning cough / wheeze
Exercise tolerance
Days of school missed?

 

Youcan also ask

- When was the last time / has he ever / how often does he require steroids for his asthma?

- Has he been to ED / wards / ICU with his asthma?

45

What is the defnitive management of infrequent intermittent asthma?

SABA prn

46

What is the defitive management of frequent intermittent asthma?

SABA prn

+

 

low dose/higher dose ICS

AND/OR

LTRA

AND/OR

cromone

47

What is the definitive management of persistent asthma?

SABA prn

 

+

 

low dose/higher dose ICS

AND/OR

LTRA

AND/OR

cromone

 

+

 

LABA

oral CS

48

Name two generic types of SABA and some brand name?

Salbutamol (Vontolin)

Terbutaline (Bricanyl)

49

Name two different types of ICS and their brand names?

Fluticasone (Flixotide)

Budenoside (Pulicort)

50

Name two different types of combined ICS / LABA?

Fluticasone + Salmetorol = Seretide

Budenoside + efometerol = Symbicort

51

Name two types of LABA and their brand names?

Efometerol = Foradile

Salmeterol = Serevent

 

(usually see this combined with an ICS)

52

Name one generic type of LTRA and it's brand name

Monteleukast (Singulair)

53

Name one type of cromone and their brand name

Cromoglycate (intal)

54

How do you diagnose asthma in a child?

Trial of salbutamol

(not with lung function tests or PEF until over 7-8)

55

In what age group would you use LABAs?

No evidence for children

56

57

What is the emergency management of asthma, to instruct parents of a child >6 years old, to do at home?

> 6 y.o. = maximum 12 puffs of ventolin

‘4,4,4’ rule

  • 4 puffs (4 breaths per puff)
    • wait 4 minutes
  • 4 puffs (4 breaths per puff)
    • wait 4 minutes
  • 4 puffs (4 breaths per puff)
    • wait 4 minutes

Then if not better, call an ambulance

/ bring in to hospital.

 

Can bring straight in to hospital if:

1.     If you are worried – call an ambulance straight away even before administering ventolin

2.     If are requiring ventolin more frequently than every 3-4h

3.     If wheezing lasts >24h and is not getting better

4.     If you get little or no relief from ventolin

58

What is the home emergency management of asthma of a child

‘2,2,2 rule’

2 puffs (3-4 breaths)

  • wait two minutes

 puffs (3-4 breaths)

  • wait two minutes

2 puffs (3-4 breaths)

  • wait two minutes

if not better call ambulance / bring in to hospital

 

other reasons to call an ambulance / seek medical attention

1.     If you are worried – call an ambulance straight away even before administering ventolin

2.     If are requiring ventolin more frequently than every 3-4h

3.     If wheezing lasts >24h and is not getting better

4.     If you get little or no relief from ventolin

59

What are the causes of cyanotic congenital heart disease?

12345T

  • Truncus arteriosus
  • Transposition of the Great Arteries
  • Tricuspid / Pulmonary Atresia
  • Tetralogy of Fallot
  • Total anomolous pulmonary venous return

60

What are the two classes of acyanotic congenital heart disease?

Obstructive and L-R shunt

61

What are the causes of obstructive heart disease?

  • Hypoplastic L heart syndrome
  • AS
  • Coarctation of the aorta
  • Interruption of the aortic arch

62

As a general rule, which group of congenital heart defects are ALWAYS duct dependent? How is this treated in the early stages?

Obstructive congenital heart defects (hypoplastic L heart syndrome, AS, interruption of the aortic arch and aortic coarctation). They are treated by PGE1 in the short term, to keep the duct open

63

As a general rule, which group of congenital heart defects are USUALLY duct dependent? Is it harmful to treat with PGE1, while still in the diagnostic process?

R-->L shunts (1T2T3T4T5T) but this time you depend on the duct being open for blood to flow into the PULMONARY circulation

64

How and when do obstructive congenital heart defects present?

A shocked neonate. Often on D2 of life when PDA closes. Present as a dusky / grey coloured neonate with weak / absent pulses and a low BP, with a metabolic acidosis.

65

What are the defects of tetralogy of fallot?

1. PULMONARY STENOSIS 2. RVH 3. VSD 4. Overriding aortic arch

66

When does tetralogy of fallot tend to present and how?

6-12 months of life. "Tet spells" or "hypoxic spells" - cyanosis or LOC / going floppy on feeding, crying or exertion

67

What is the surgical correction of transposition of the great arteries?

balloon atrial septotomy

68

What is the surgical correction of hypoplastic L heart syndrome?

Norwood operation

69

Which two congenital heart defects are associated with DiGeorge syndrome? Which chromosomal abnormality is this and what are the other associated features?

TOF and transpos are both associated with microdeletion of the long arm of chromosome 22. The other associated features are 'CATCH 22' Cardiac (trasnpos, TOF) Abnormal (long) facies Thymic hypoplasia Cleft palate Hypocalcaemia / hypoparathyroidism

70

With which CHD is Turner's syndrome associated?

Aortic coarctation

71

Compare the timing of onset of transposition of the great arteries and TOF?

Transpos always presents as cyanosis in the newborn period. TOF presents 6-12 months of life as cyanosis.

72

What is the most common cause of ACQUIRED heart disease in paediatrics?

Kawasaki disease

73

What are the diagnostic features of Kawasaki disease?

Fever persisting 5 days or more (usually high, >39 degrees)

 

AND

 

4 of the following 5 features

 

Important note: you can also diagnose Kawasakis with only 3 of the 5 features if you get a positive echo.

 

  1. bilateral nonpurulent conjunctivitis
  • ie. redness without exudate

  1. red fissured lips, strawberry tongue, erythema of oropharynx (without tonsillitis or evidence of URTI)

 

  1. changes of the peripheral extremities
  • acute phase: erythema, edema of hands and feet, groin peeling. May manifest as refusal to weight bear.
  • subacute phase: peeling from tips of fingers and toes

  1. polymorphous rash
  • usually begins in the nappy area (where there may be desquamation early in the disease) and spreads to involve the trunk, extremities and face.
  • Rash may be maculopapular, annular or scarlatiniform.
  1. cervical lymphadenopathy > 1.5 cm in diameter

74

What is the treatment of Kawasaki disease

  • Intravenous immunoglobulin (2 g/kg over 10 hours; preferably within the first 10 days of the illness.)
  • Aspirin 3 - 5 mg/kg once a day for at least 6 to 8 weeks

75

What should be organised before a patient treated for Kawasaki disease is discharged?

Follow-up echocardiogram in 6-8 weeks

76

Kawasaki disease is primarily a clincial diagnosis, but what Ix would you perform (and what might you expect to see)?

Bedside tests ECG - check for ischaemia / infarction Urine dipstick - negative Laboratory Tests FBE - neutrophilia, anaemia, thrombocytosis ESR/CRP - markedly raised LFTs - ALT raised Imaging Echocardiogram

77

What are the clinical features of a Patent ductus arteriosus? 

  • Patients with a small PDA are usually asymptomatic
  • Murmur
    • Continuous murmur audible at the upper left sternal border or left infraclavicular area – called a machinery murmur
    • May disappear during diastole and be mistaken for a systolic murmur, especially if the duct is large and there is associated pulmonary hypertension.
    • Radiates along the pulmonary arteries, and often well heard over the left side of the back
  • With a large duct, the large left-to-right shunt causes left heart dilation
    • Can cause symptoms such as failure to thrive, dyspnea and recurrent chest infections.
    • Bounding pulses
    • Low diastolic BP
    • Apex may be displaced and forceful, and an apical mid-diastolic murmur may be heard due to increased flow through the mitral valve
    • A thrill may be palpable

78

What is the management of a patent ductus arteriosus in preterm infants?

IV indomethacin

 

IV ibuprofen can be used in infants of larger weight

79

What is the management of PDA in term infants?

Percutaneous catheter closure 

80

What is Eisenmenger syndrome?

Intracardiac communication with severe pulmonary vascular disease which is inoperable

81

What is the most common congenital heart defect?

Ventricular septal defect

82

What are the clinic presentation of VSDs?

  • Small VSDs with little shunt are often asymptomatic but have a loud murmur
    • Loud, harsh, high pitched pansystolic murmur usually heard best at the lower left sternal border
    • There may be a thrill
  • Large VSDs  - pulmonary overcirculation and heart failure
    • Increase flow across the mitral valve causing a mid-diastolic murmur
    • Parasternal heave
    • Difficulty feeding due to tachypnea
    • Hepatomegaly
  • Splitting of S2 and intensity of P2 – depending on the pulmonary artery pressure

 

Eisenmenger syndrome

  • At rest patients may be asymptomatic, but experience exertional dyspnea, cyanosis, chest pain, syncope and hemoptysis with exercise

83

What are the four structural defects of Tertalogy of Fallot?

Ventricular septal defect
Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy 

84

At what age would you expect to see cyanosis in children with tertaology of fallot?

6 to 12 months 

85

How do you treat a hypercynanotic spell or tet spell?

Treatment of hypercyanotic spells

Basics

ABC, oxygen, sedation and pain relief (morphine)

 

Place and person

Hospital, ICU

 

Investigate and confirm diagnosis

Text

 

Non-invasive management

Keep the child calm – stress will exacerbate

 

Definitive management

IV propranolol

  • Works as a peripheral vasoconstrictor and by relieving the subpulmonary muscular obstruction that is the cause of reduced pulmonary blood flow

IV volume administration

Bicarbonate to correct acidosis

Muslce paralysis and artificial venticlation in order to reduce metabolic oxygen demand 

86

At what age does transposition of the great arteries usually become apparent? 

  • Presentation is usually on day 2 of life when ductal closure leads to a marked reduction in mixing of the desaturated and saturated blood.

 

Physical signs

  • Cyanosis is always present
  • Quiet tachypnea
  • The second heart sound is often loud and single
  • Usually no murmur, but may be a systolic murmur from increased flow or stenosis within the left ventricular outflow tract
  • Metabolic acidosis may develop because of tissue hypoxia. 

87

What are the signs of heart failure in a child?

Recurrent chest infections

FTT

Difficulty feeding

Hepatomegaly

Tachycardia

Respiratory distress

Profuse sweating when feeding

89

What is Eisenmenger's Syndrome?

Eisenmenger syndrome refers to any untreated congenital cardiac defect with intracardiac communication that leads to pulmonary hypertension, reversal of flow, and cyanosis. The previous left-to-right shunt is converted into a right-to-left shunt secondary to elevated pulmonary artery pressures and associated pulmonary vascular disease.

90

What are the common and less common presentations of HSP?

Common - purpuric rash over legs and buttocks - migrating arthlagia and swelling - abdominal pain Less common - HSP nephritis (HT, proteinuria, haematuria) - intussuception - malaena and haematemesis - scrotal swelling

91

Describe the management of HSP

Basics - analgaesia for joint pain (paracetamol not NSAIDs) - analgaesia for abdo pain (steroids have evidence) Place & Person - Referral to outpatient paeditrician for ongoing observation Definitive management - Education & supportive care Prevention - continue to review for 6 months (including BP and urine dipstick) - steroids are NOT indicated for nephritis prophylaxis

92

What are the DDx for brusing in children?

'SHIELD' Sepsis (meningoccoal) HSP / HUS / Haemophilia ITP Events (Trauma or non-accidental injury) Leukaemia DIC (usually in the setting of severe illness)

93

How do you diagnose ITP?

An isolated thrombocytpoaenia (platelet count of

94

What is the management of ITP?

Basics - stop any active bleeding Place and Person - refer to paediatric haematology Investigations and confirm diagnosis - FBE and blood film to confirm isolated thrombocytopaenia - BMAT if unsure / need to rule out leuakaemia Conservative Management - avoid contact sports / high-risk activities - monitor menstural bleeding if post-pubertal female - avoid NSAIDs and 5-ASA - ongoing follow up and FBE Definitive Management' - steroids (low or high dose) - IVIg

95

What is the most dangerous complication of ITP?

Intra-cranial haemorrhage Although the risk if

96

What are the causes of Fe deficiency anaemia in a child?

Poor stores

  • Maternal iron defficiency
  • Prematurity / low birth weight

Reduced intake

  • Haven't switched to solids at 6 months
  • Vegeterian (adolescents)

Reduced Absorption

  • Coeliac disease

Increased Loss

  • Meckel's diverticulum
  • Cows milk in the first 12 months (causes micro GI bleeds)
  • Menstural loss (adolescents)

97

What are the "next step" investigations for anaemia?

microcytic --> ferritin + Hb electrophoresis

normocytic --> reticulocyte count

macrocytic --> vit B12 / folate

98

What are the causes of anaemia in a child?

Microcytic

  • Fe defficicency
  • Thalasseaemia

Normocytic

  • With increased retics
    • Haemolysis
    • Blood loss
  • With decreased retics
    • transient erythroblastaemia of childhood (caused by parvovirus B19)
    • leukaemia

Macrocytic

  • B12 / folate defficiency - rare

101

What questions should you ask in history when presented with a child with anaemia?

Microcytic

  • Fe defficicency
    • "Diet, on solids, bleeding from anywhere, drinking cows milk before 12 months, abdmonial pain and bloating, prematurity, low birth weight"
  • Thalasseaemia
    • "FHx of thalassaemia"

Normocytic

  • With increased retics
    • Haemolysis
      • Jaundiced at birth?
      • Blood group? Child and maternal?
    • Blood loss
      • Bleeding from anywhere?

With decreased retics

  • transient erythroblastaemia of childhood (caused by parvovirus B19)
    • unwell with viral ilness?
    • Slapped cheeks?
  • leukaemia
    • Brusing?
    • Severe unusally persistent recurring infections?

Macrocytic

  • B12 / folate defficiency - rare

102

What initial investigations should you order for a child with suspected anaemia?

FBE

Ferritin

Blood Film

Reticulocyte count

103

What is the management of iron defficiency anaemia in the paediatric population?

  • Treat underlying cause
  • Diet
    • Foods rich in iron
    • Avoid cows milk until after 6 months
    • Encourage orange juice and vitamin C
    • Avoid coffee and tea
  • Supplementation
    • Oral (tablet or drops) or infusion
    • Oral will make stools turn very dark, and cause constipation or diarrhoea
    • Beware of iron overdose! Keep in locked cupbpard

104

What would the coagulations studies of someone with ITP show?

The coags would be normal. This is a disorder fo platelets.

105

What are the different types of ITP?

Acute

  • ITP
  • Occurs in children 2-5 years old

 

Chronic

  • ITP >12 months
  • Occurs in children older than 7 and in adults
  • Females > males

 

Recurrent ITP

  • Rare

106

What is the management of ITP

Conservative - watch and wait

Low dose steroids

High dose steroids

IVIg

Splenectomy is a very last line option

107

What advice would you give to a parent who has a child with ITP?

  • Management options
    • Conservative - watch and wait
      • 75% of children will recover within 4-6%
      • No side effects
    • Steroids
      • Side effects of steroids
      • Quicker recovery
    • IVIg
      • Quicker recovery
      • Would have to stay in hospital
  • Risk of IVH
    • Risk is
  • Precaitions
    • Avoid contact sports
    • Take to hospital if suffers trauma, especially to the head, or if symptoms of drowisness, dysarthria, dysphagia
    • AVOID ASPRIN AND NSAIDs

108

30% of patients with haemophilia will have "inhibitors".

Explain what this means and how the lab tells?

A raised APTT may suggest

  • factor defficiency [what you typically think of in haemophilia]

OR

  • factor inhibitor [ an antibody made against a factor, such as lupus anticoagulant or antibodies formed by haemophilia patients receiving recombinant factors]

How can the lab tell the difference? Mixing studies

109

What is the treatment of haemophilia?

Haemophilia A

Mild - Moderate

  • DDAVP after Challenge Test
  • Tranexamic acid

Severe

  • Recombinant factor VIII infusions

Haemophilia B

Mild - Moderate

  • Tranexamic acid

Severe

  • Recombinant factor IX infusions

 

110

In what conditions can DDAVP be used? What needs to be done before it's use?

VWF Type 1 and Factor VIII defficiency (Haemophilia A)

A challenege test (give DDAVP and monitor factor VIII / VWF levels. Also watch for hyponatraemia / BP)

111

What is the most common malignany of childhood?

And of this, what is the most common type?

Leukaemia

ALL is the most common (80%)

AML is the next common (20%)

112

What are the symptoms of Leukaemia?

With which symptoms do acute leukaemis tend to present with, and which do chronic leukaemias tend to present with?

Constitutional symptoms

(B symptoms)

  • Fever
  • Nigh sweats
  • LOW

Symptoms of bone marrow infiltration - ACUTE LEUK

  • symptoms of anaemia
  • severe, persistent, unusual or recurrent infections
  • bruising

Symptoms of other ogran infiltration - CHRONI LEUK

  • lymphadenopathy
  • splenomegaly
  • hepatomegaly

113

What are the causes of bruising in a child?

Sepsis (meningococcal)

HSP / HUS / Haemophilia

ITP

Events (non accidental injury or trauma)

Leukaemia

DIC (usually in the context of severe illness)

114

What are the typical features of HSP?

HSP typically presents with the triad of:

  1. Purpuric rash (non-blanching rash usually over lower limbs and buttocks, may be over posterior aspect of elbows)
  2. Joint pain / swelling (migratory in nature)
  3. Abdominal pain

May also consist of

  • Renal disease: A nephritic syndrome - haematuria, proteinuria, isolated hypertension, renal insufficiency and renal failure (
  • Subcutaenous oedema of the scrotum, hands, feet and sacrum
  • Abdominal -  intussusception, malaena, haematemasis, spontaneous bowel perforation or pancreatitis

115

What basic Ix should you perform for HSP?

Bedside Test

  • Urine dipstick
  • BP

Labratory Tests

  • UEC
  • Urine MC&S

 

 

116

What is the management of HSP?

Basics

  • Paracetamol for pain relief

Place & Person

  • Admit for observations and investigations
  • Can usually be managed as an out-patient

Ix and confirm diagnosis

  • BP
  • urine dipstick
  • urine MC&S
  • UEC

Defitive management

  • Supportive care and frequent monitoring (including  BP and urine dipstick)
  • HSP nephritis (IgA nephropathy) can occur at the time of HSP, or 6 weeks – 6 months later. Continue to screen for this time.

Prognosis

  • The use of prednisolone has not been shown to make clinically important improvements in the rate of long-term renal complications – this was recently removed from the RCH guidelines!

 

117

What type of renal syndrome can occur in HSP?

Nephritic syndrome

118

What are the common childhood malignancies?

119

When does neuroblastoma tend to present in children?

120

When does a retinoblastoma tend to present in children?

122

What is the most common type of SOLID tumor in paeds?

brain tumours!

123

What are the two types of neurfibromatosis and what are they associated with?

  • Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues.

 

  • Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss.

124

What are the top two causes of abdominal mass in a child (for Monash exams)?

Neuroblastoma

Wilm's Tumour (Nephroblastoma)

125

What is a neuroblastoma?

A cancer which arises from the neural crest cells that precede the sympathetic ANS & can occur in adrenal medulla (most commonly) or abdominal, thoracic and pelvic ganglia.

126

in what age group does a neuroblastoma occur?

How does it present?

The most common cance of infancy

Arises in children

Fatigue, loss of apetite, loss of weight, night sweats

mass in the abdominal cavity

sometimes causing constipation

hypertension (from catecholamine secretion or comression of renal artery)

tacchycardia

May have interesting paraneoplastic effects:

  • Opsomyoclonus (dancing eyes, dancing feet syndrome)
  • Excessive catecholamines: flushing, tachycardia, HTN
  • VIP secretion – severe refractory diarrhea with FTT and low K+
     

 

127

Does neurofibromatosis cause an increased risk of neuroblastoma?

NO

The two are unrelated.

Neurofibromatosis is a SYNDROME characterised by skin lesions, and patients have an increased risk of BRAIN TUMOURS.

Neuroblastoma is a cancer arising from the sympathetic peripheral nervous system, and often presents as a mass in the abdominal cavity

128

Is a neuroblastoma symptomatic at diagnosis?

yes, it often is.

Moreover, at diagnosis 75% of patients with neuroblastoma have metastases

129

What is the other name for a Wilm's tumour?

Nephroblastoma

130

Is a Wilm's tumor normally symptomatic?

No

131

What are the symptoms of a Wilm's tumour?

 

  • Often asymptomatic mass
  • May rupture, bleed and cause pain (20%)
  • Haematuria and HTN occur in some patients. Can cause an aquired vWD.
     

132

133

What are the features of Tetralogy of Fallot? What are the features of Pentology of Fallot?

1. pulmonary stenosis

2. RVH

3. VSD

4. over-arching aorta

(5. ASD)

134

When and how does TOF tend to present?

When the child is >3 months of age

Presents as failure to thrive, reduced exercise tolerance, clubbing of fingers and tet spells.

They are not cyanosed at birth - may be cyanosed after 6-12 weeks

135

What is a Tet spell?

The classic story is severe, painful cyanosis on exertion/stress (feeding or crying).

Older children will classically squat in order to increase systemic resistance and reduce R-->L shunting

136

What is the management of Tet spells?

Basics

Comfort the child in a position with their hips and knees flexed to increase systemic resistance and thereby R-->L shunt.

Oxygen

IV fluids

B blockers

IM morphine

Place and Person

Refer to paediatric cardiac surgery

Ix and confirm diagnosis

With echocardiogram

Definitive management

Surgical

Long Term

Ongoing paediatric review

137

What chromosomal abnormality is TOF related to?

What else is related to this abnormality?

Deletion of the long arm of choromosome 22

 

What else is related? Think CATCH 22

Cardiac (TOD, TGA)

Abnormal facies

Thymic hypolasia (T cell deficiency)

Cleft palate

Hypocalcaemia/hypoparathyroidism
 

138

What is the most common cyanotic congenital heart disease?

TOF

139

What are the murmurs / added heart sounds of a large and small VSD?

small VSD: loud pansystolic murmur

large VSD: softer pansystolic murmur + loud P2 (due to pulmonary hypertension)

140

When does TOF normally present?

6-12 weeks of life (Tom)

3-6 months of life (BMJ)

141

Lis the age-specific causes of a limp in a child.

 

List the general causes.

0-4 years: DDH & Toddler's #

4-10 years: Perthes

10 + years: SUFE, stress fracture, overuse injury

 

General (non-age specific causes)

MINIVAN

Malignancy - leukaemia, solid tumour infiltration  and osteosarcoma

Infection - transient synovitis, septic arthritis, osteomyelitis

Non-accidental injury / other trauma

Ingionoscrotal (testicular torsion)

Vasculitis (HSP) and other rheumatological conditions (JIA) or rheumatic fever

Appendicitis with psoas involvement / other abdominal pathology

Neuromuscular disease (CP and DMD)

 

142

How does transient synovitis of the hip usually present, and how long does it take to improve naturally?

Often a viral ilness is preceding it.

It should improve in two days and resolve in 3 weeks.

143

what pain relief is recommended for children?

simple analgaesia

  • paracetamol: 15mg / kg four hourle (never exceed 1g / dose)
  • NSAIDs - care in asthma

Do NOT give asprin (Reye's syndrome; asprin + viral ilness)

144

DEscribe the movements involved in Barlow's and Ortolani's Test

Barlow:

Flexion + adduction/IR + compression along the line of the femur

 

Ortolani:

Flexion + abduction/ER

145

When should the Ortolani's and Barlow's Test be performed?

at birth

within the first 48 hours

6 weeks

3 months

6 months

1 year

146

what are the risk factors for DDH?

"Packaging Problems"

- Macrosomia

- Oligohydramnios

- Breach position

- Multiple gestation?

 

Also..

- Female

- First born

- FHx
 

147

What are the appropriate investigations for DDH?

After 6/52 - can use ultrasound

After 6/12 - can use xray

 

148

If a neonate has risk factors for DDH, but has a negative Ortolani and Barlow's test immediately after birth and after 48 hours, what investigations should be performed?

They should still receive a 6/52 ultrasound

149

What is Perthes?

Who is most likely to get it?

AVN of the femoral head

Boys

4-8 years old

150

Who gets SUFE?

How is it diagnosed?

Overweight children

Late childhood / adolescence

 

Plain xray

"Frog leg" position

If the line of the femoral neck does not intersect with the head --> Dx SUFE

151

What is the Rx of DDH / Perthes?

Young - Pavlik Harness

Older - Broomstick cast

 

Both are to increased apposition between the femroal head and the acetabulum

152

What is Still's Disease?

The systemic sub-type of JIA

153

What are the main subtypes of JIA?

 

  • Oligoarthritis - 4 or fewer joints affected in the first 6 months of the disease
  • Polyarthritis - more than four joints affected in the first 6 months. This can be further classified into Rh + or Rh -
  • Systemic

154

What investigations should you perform if suspecting JIA?

Bedside Tests

  • Temperature

Lab Tests

  • FBE (May be a microcytic anaemia of CD)
  • CRR, ESR
  • ANA (carries risk of anterior uveitis)
  • Rh Factor
  • HLAB27 genotyping

Imaging

  • Plan xray may reveal eroded joints, but not diagnosic

155

What are the diagnostic crietria of kawaski disease?

A temperature of >39 for >5 days + 4/5 of the following criteria

  • Lymphadenopathy >1.5cm
  • Red mouth and lips "Strawberry tongue"
  • Desquamation of the extermities
  • Bi-lateral non-purulent conjunctivitis
  • Rash

But if have abnormal echocardiogram, can have

How to remember?

FLAMER

Fever

Lymphadenopathy

Atypical - Arteries

Mouth & Lips

Extremities & Eyes

Rash

CRASH and Burn

Conjunctivities

Rash

Adenopathy

Strawberry tongue

Hand and feet

Burn = Fever

156

What is the management of Kawasaki Disease?

Basics

  • Analagaesia for pain relief
  • Encourage fluids / NGT if dehydrated or poor feeding

Place and Person

  • Contact paediatrics rheumatology
  • Admit

Investigate and Confirm Diagnosis

  • Bedside tests
    • ECG
    • Urinalysis
  • Labratory Tests
    • ASOT/Anti DNase B (to exclude strep throat, scarlett fever)
    • FBE
    • CRP/ESR
    • LFT
  • Imaging
    • Echocardiogram

Definitive Management

  • IV Ig (10 days)
  • Asprin (6-8 weeks)

Ongoing Management / Follow-Up

  • Repeat echo at 6/52

157

what are the major crieria for rheumatic fever?

what is the required criteria?

how do you diagnose ARF?

Required criteria - evidence of antecedent strep infection (ASO or anti DNA-se B, strep grown from NPA, previous scarlett fever)

 

Major criteria - JONES

Joint

O - Carditis

Nodules

Erythema marginatum

Sydenham's chorea

 

Diagnose with required criteria + 2 major criteria

OR

required criteria + 1 major + 2 minor

OR sydenham's chorea alone

158

What is the management of ARF?

Basics

  • Analgaesia for arthlagia
  • Fluids / NGT if dehydrated

Place and Person

  • Contact paediatrics
  • May need to admit if CHF

Investogate & Confirm Diagnosis

  • Bedside Tests
    • ECG
  • Labratory Tests
    • FBE
    • Blood cultures
    • NP swab
    • ESR / CRP
    • ASOT / Anti-DNAse B
  • Imaging
    • Echo
    • Xray of painful joints

Definitive Management

  • Benzathine Penicillin IM
  • 10 day course of phenoxymethylpenicillin V

Follow Up

159

How do you conceptualise paediatric heart defects?

  • Cyanotic Heart Defects
    • R-->L shunt
  • Acyanotic Heart Defects
    • L-->R shunt
    • Obstructive heart defects

160

What are the obstructive heart lesions?

hypoplastic L heart syndrome

aortic stenosis

coarctation of the aorta

interrupted aortic arch

161

Which group of congenital heart defects are always duct dependent?

Which group of congeintal heart defects are sometimes duct dependent?

Which group of congenital heart defects are never duct dependent?

always - obstructive

sometimes - cyanotic / R --> L shunt

never - ASD, VSD, PDA

162

how do obstructive cardiac defects normally present?

“shocked neonate” – dusky colour, weak or absent pulses, low BP, reduced UO, metabolic acidosis

 

Often present on day two of life when ductus arteriosus closes

163

What is the general management of all obstructive heart defects?

DRABC

PGE1

Urgent surgical referral

164

Which congenital heart defect is associated with Turner's syndrome?

Aortic coarctation

165

What are some causes of neonatal cyanosis?

"CRI"

(Think: "cry")

Cardiac

  • R --> L shunts

Pulmonary

  • RDS
  • PPHN
  • Mecosium aspiration

Infection

  • GBS
  • E coli
  • Listeria

166

When should Apgars me performed?

At 1 and 5 minutes after both (if low at 5 minutes, might be done again at 10)

167

What are the components of Apgar?

Appearance (blue, partly blue, pink)

Pulse (absent, under 100, over 100)

Grimace (no response to stimulation, some response to stimulation, cry to stimulation)

Activity (Flat, Some flexion, some flexion which resists extension)

Respiratory effort (None, some, good cry)

 

168

What is the murmur which can be heard in TOF?

ES murmur in the pulmonary area

Loud, single S2

169

what might severe TOF look like on CXR

boot shaped heart

170

what might TGA look like on CXR?

heart looks like 'egg on its side'

171

When does TGA usually present?

When does TOF usually present?

TGA - in neonatal period. Often after day 2-3 when ductus has closed.

TOF - in infancy, as cyanotic / tet spells when crying or exerting oneself + failure to thrive + recurrent respiratory infections

172

what is heard on ausculatation with an ASD?

wide fixed splitting of S2

173

What is heard on auscultation of a PDA?

What is felt on palpation of the pulses?

Machinery murmur with bounding pulses

Such murmurs may be present throughout the cardiac cycle (‘machinery murmur’), but may disappear during diastole and be mistaken for a systolic murmur, especially if the duct is large and there is associated pulmonary hypertension.

174

What is the general definitive management in INFANTS with heart failure?

Medical

Diuretics - frusemide or spironolactone

ACEi

Oxygen

Consider inotropic support if necessary

High caloric diet

 

Urgent surgical referral

 

175

When does ductus arteriosus close in a term child?

In a preterm child?

Usually after 2 days

May take one month in a term child

May take 2 years in a preterm child

176

what is used to close a symptomatic PDA?

INDOMETHACIN OR IBUPROFEN

CAN BE SLOSED SURGICALLY IF REQUIRED

177

What are the GI causes of vomitting in a child?

FAMINE HIP GAIT

Food allergy

Atresia (oesophageal or duodenal)

Meconium ileus

Intussception

Necrotising enterocolitis

Eosinophillic oesophagitis

Hirschbrungs

Intestinal malrotation

Pyloric stenosis

GOR / GORD

Appendicitis & strangulated inguinal hernia

Imperforate anus

Trahceo-oesophageal fistula

 

 

178

What are the causes of vomiting in a child?

GI

  • FAMINE HIP GAIT

Infectious

  • Meningitis
  • Gastroenteritis
  • Pertusis

Neuroligcal

  • Increased ICP

Endocrinological

  • DKA
  • Errors of inbron metabolism

Other

  • over-feeding in infants
  • bulaemia in adolescents
  • pregnancy in adolescents

179

At what age does intussusception present?

How common is it?

How does it present?

The most common cause of bowel obstruction between 6 months and 2 years of age.

Presnts as:

  • Intermittent episodes of crying + knee flexion (intermittent episodes of pain)
  • Turn white during this period (as opposed to red)
  • Bilious vomiting
  • Recurrent jelly stools
  • Sausage shaped mass palpable in RUQ

 

180

What is seen on abdominal xray of intussusception?

Target sign

Cresent sign

181

What is the management of intussusception?

Basics

  • DRABC if shocked
  • Analgaesia
  • NGT / IV fluids if dehydrated

Place and Person

  • Admit and contact paeds surgical team

Ix and confirm diagnosis

  • FBE & group and hold prior to surgery
  • UEC if dehrydrated
  • AXR
  • US

Management

  • IV antis prior to enema? discuss with surgical team
  • Air enema
  • Surgical reduction if this is unsuccessful (25% are unsuccessful)

Follow Up

  • Follow up with paeds surg post op

182

What are two mimickers of appendicitis?

Meckel's diverticulum

Mesenteric lymphadenopathy

Ovarian pathology in an older female

Constupation

183

What is bilious vomiting in the first week of life, until proven otherwise?

Intestinal malrotation

184

If a neonate has bilious vomiting in the first week of life, and their mother had polyhydramnios, what is the cause?

duodenal atresia

185

what is the gold standard investigation of malrotation, and what is the sign seen?

Barium meal

Corkscrew sign

186

What is the management of intestinal malrotation?

Basics

  • Analgaesia
  • NBM
  • NGT
  • IV fluids to replace deficit and for maintenance

Place and Person

  • Admit
  • Contact paeds surg / NETS if in rural setting

Ix and Confirm Diagnosis

  • FBE
  • Group and hold
  • AXR
  • Barium meal - look for corkscrew sign

Definitive management

  • Ladd procedure

Follow-Up

  • Organise follow up with paeds gastro / general paediatrician - ensure adequate growth and weight gain

 

187

Explain the pathophysiology of Malrotation

Embryologically, the bowel should rotate 270 degrees (in three stages, each 90 degrees).

The last 90 degrees fails to take place.

This means the colon is in the wrong position and the mesentery has a narrow base, the small bowel can therefore twist on itself --> ischaemia --> necrosis

188

Is it really the malrotation which is dangerous?

No, it is malrotation + VOLVULOUS

189

How do meconium ileus and hirschprungs present similarly?

How do they present differently?

Both present with progressive abdominal distension and failure to pass meconium. Vomiting is a later sign and is bilious / faeculent.

 

The difference is:

Meconium ileus has an empty rectum on PR examintaion

Hirschprungs has an explosive rectum on PR examination

190

When should meconium be passed?

99% passed in 24 hours

Abnormal if not passed after 3 days

191

How do you investigate for Hirschprungs?

Suction rectal biopsy

192

What is the carrier rate of the CF gene in the caucasian population?

what is the incidence of CF?

1 in 25

1 in 2500

193

polyhydramnios + bilious vomits = ?

polyhydraminios + respiratory disress = ?

polyhydramnios + macrosomic baby = ?

duodenal atresia

TOF (tracheooesophageal fistula)

GDM

194

What is the feature of duodenal atresia on AXR?

double bubble sign

195

When monash sates that liqor is "apparnetly" meconium stained?

this could be bilious vomiting

196

What is the management of duodenal atresia?

Basics

  • NBM
  • 'Drip and Suck'
    • IV fluids
    • NGT

Place and Person

  • Paediatric Surg / NETS

Ix and Confirm Diagnosis

  • AXR - look for double bubble sign
  • Barium meal

Defiitive management

  • Surgical - anastomsis of the duodenum

Follow-up

  • Small feeds regularly
  • Follow up with paediatrician / GP to ensure weight gain
  • Consider important associations eg. Trisomy 21, cardiac defects

 

197

What is the electrolye and pH disurbance seen in pyloric stenosis?

hypocholaraemic, hyponatraemic, hypokalaemic metabolic alkalsosis

  • hypocholaramiec and hyponatraemic from vomiting
  • acidotic from vomiting
  • hypokalaemic because the nephron swaps H+ for K+ to compensate for alkalosis

198

What features of PS would you ascertain on history?

Projectile, non-bilious vomiting

Weight loss

Feeding immediately after meals

Male

First born

Caucasian

FHx PS

199

What might you see on examination of an infant with pyloric stenosis?

The three Ps

palpable olive in the RUQ

visible peristalsis

projectile vomiting

+

signs of dehydration

200

What is the management of pyloric stenosis?

Basics

  • NBM
  • NGT
  • IV fluids to replace deficit and for maintenance prior to surgery

Place and Person

  • Paeds gastro / NETS

Ix and Confirm Diagnosis

  • Measure weight
  • Blood Group and Cross Match prior to surgery
  • UEC
  • ABG
  • Ultrasound

Definitive Management

  • Correct electrolyte / acid-base derrangement
  • Ramstedt operation: pyloromyotomy

Follow Up

  • Organise follow up to ensure weight gain and meting normal growth parameters

 

201

What are the signs of dehydration?

  • General appearance
    • Flat / floppy OR miserable OR well
    • Not cyring tears
    • Thirsty
  • Vitals
    • Loss of weight
    • Tacchypnoeic (early sign)
    • Tacchcardic (later sign)
    • Hypotensive (very late sign)
  • Hands
    • Cold peripheries
    • Mottled skin
  • Head / Face
    • sunken fontenelles
    • suken eyes
    • dry mucous membranes
  • Chest
    • Central capillary refill
    • Reduced skin turgor
  • Other
    • crying tears?
    • wet nappies?

202

What are the components of fluid one needs to replace (in terms of IV rehydration) according to the RCH?

  • Bolus fluid (if if hypovolaemic shock)
  • Replace deficit (according to degree of dehydration)
  • Maintenance fluid (according to body weight)

(+ replace ongoing losses if vomiting whlist in hospital)

203

What fluid should be given first if a cihld is in hypovolaemic shock? How much and at what rate?

How do you then calculate further fluid requirements?

Bolus of 10-20mL per kilogram of 0.9% NS

keep on giving until signs of shock improve

As quick as possible

Don't include this fluid in further calculations for fluid requirements.

204

How do you decide how much fluid deficit there is?

What fluid do you give? How much? How quickly?

Assess clinical picture of dehydration

Mild dehydration

Moderate 4-6%

Severe >7%

 

Should use 0.9% NS

The amount of fluid is this % of the childs body weight (eg. a 10kg child who is 5% dehydrated should receive 500mL)

The rate of rehydration should be adjusted with ongoing assessment of the child.

 

205

what does mild dehyradtion mean according to the RCH guidelines (both clinically and in terms of deficit)?

moderate?

severe?

Mild - (0.4%)

  • no clinic signs, maybe thirsy

Moderature - (4-6%)

  •  essentially signs other than shock
  • Delayed CRT > 2 secs
  • Increased respiratory rate
  • Mild decreased tissue turgor

Severe (>7%)

  • shocked
  • Very delayed CRT > 3 secs, mottled skin
  • Other signs of shock (tachycardia, irritable or reduced conscious level, hypotension)
  • Deep, acidotic breathing
  • Decreased tissue turgor

206

what methods of rehydration should you try to employ?

  1. oral (eg. gastrolyte icypole)
  2. NGT
  3. IV

207

what type of fluid should you use for a bolus?

what type of fluid should you use for replacement of deficit?

what type of fluid should you use for maintenance?

bolus = 0.9% NS

replacement of deficit = 0.9% NS

maintenance = 0.9% NS + 5% glucose / 0.45% NS + 5% glucose

(Premade solutions with potassium chloride 20mmol/L are available and should be used unless the serum potassium is elevated, there is anuria or renal failure.)

208

how do you calculate maintenance fluid?

how much fluid would a 30kg child receive as maintenance?

What would this fluid be?

4,2,1 rule


ž4mL/kg/hour for the first 10kg
ž2mL/kg/hour for the next 10kg
ž1ml/kg/hour for every kg after that

 

A 30kg child would receive 70mL/hour

NS+5% glucose or 1/2 NS + 5% glucose

 

209

what is the difference between GOR and GORD?

GOR - physiological vomiting due to reduced tone of oesophageal sphincter. Baby is meeting all centiles for height and weight.

 

GORD - GOR + complications (FTT, oesophagitis, respiratory symptoms)

210

What is the management of GOR / GORD?

Basics

  • Weight child, and plot
  • Measure height and HC

Place and Person

Investigate and confirm Dx

  • Clinical diagnosis - but screen in history for any complications (haematemesis, respiratory issues, FTT) to see if GORD vs GOR

Management

  • Non-Pharmacoloigical
    • Can add thickener to formula or to EBM
    • Prop upright / at angle after feeding
  • Pharmacological (if severe or if GORD)
    • H2 receptor antagonists
    • PPI

Follow Up

  • Continue to check weight and other measurements

211

When does PS present?

When does intussusception typically present?

PS: 2-6 weeks

Intussusception: 6 months - 2 years

212

What are the DDx for abdominal pain?

MIDGUT MISHAP

Migraines - abdominal
Intussception
DKA
Gastroenteritis
UTI
Testiicular Torsion

Malignancy (Wilm’s, Leukaemia, Neuroblastoma)
Inguinal hernia - stranulated
Stuck poo (constipation)
HSP
Appendix + mimickers (mesenteric adenopathy / Meckel’s diverticulum)
Pregnancy / ectopics / gynae

213

what is the Dx of a child who has had gastroenteritis, and no longer had any abdominal pain, vomiting or abdominal distension but has ongoing diarrhoea for two weeks?

 

(common Monash EMQ)

post gastro-enteritis lactase deficiency

214

A kid with wasted buttocks, abdominal distension and FTT?

 

(Common Monash EMQ)

Coeliac Disease

215

What is the clinical picture of coeliac disease?

Chronic diarrhoea / steatorrhea

FTT

Abdmonial pain / bloating

Wasted buttocks

*consider iron deficiency as a complication

216

What investigations are required to diagnose coeliac disease?

Bedside Tests

  • random BGL

Labratory Tests

  • Coeliac serology (anti-TTG, anti-gliadin & IGA)
  • FBE (to see if anaemic)
  • TFTs (because associated with CD!)
  • HBA1c (because associated with CD!)

Invasive

  • SOMETIMES an intestinal biopsy is performed

217

What is the management of coeliac disease?

Basics

  • Ensure adequate hydration

Investigations and Confirm Diagnosis

  • Coeliac serology
  • FBE
  • TFTs
  • HBA1c
  • BGL

Definitive Management

  • Gluten Free Diet (avoid Barkey, Rye, Oats and Wheat)

Ongoing Management

  • Screen for and treat throid dysfunction
  • Screen for and treat T1DM
  • Iron supplementation / increase iron in diet / monitor iron levels
  • Vit D / Calcium supplementation / increase in diet / monitor levels
  • Monitor folate levels / increased folate in diet / folate supplementation

 

218

What are the possible complications of coeliac disease?

FTT / short stature / delayed puberty

Increased risk of malignancy (reduced if controlled)

Iron deficieny anaemia

Ostoepenia

Dental enamel hypoplasia

219

what is the difference between an inguinal hernia and a hydrocele, anatomically?

both involve a patent processus vaginalis

 

in an inguinal hernia, the processus vaginalis is big enough to allow a part of the small bowel thorugh

 

in a hydrocele, it is patent but only big enough to let water thorugh

220

how does an inguinal hernia normally present?

how should you treat it?

swelling in the groin

if reducible - likely to be intermittent, painless swelling

if irreducible / strangulated - painful abdomen

 

Basics

  • NBM
  • IV maintenance fluids
  • analgaesia

Place and Person

  • Urgent surgical referral (state whether it is reducble or irreducible)

Investigate

  • may perform U/S

Definitive management

  • Surgery

221

Differientiate between undescended testes and retractile testes.

 

What are the clinical classifications of undescended testes in a newborn?

Undescended testes - the scortal sac is empty. The testes can be palpable or non-palpable.

 

Retractile testes - normal. Testes are still in the scrotal sac, but are lifted up into the abdominal cavity, for example, when the boy is cold.

222

What is the management of undescended testes diagnosed in a newborn?

Palpable - wait 3 months. Then if not descended --> surgical referral. Surgery at 6-9 months.

 

Non-palpable - surgical referral now

223

What are the complications of CF?

MR PANCREAS

 

Meconium Ileus / Distal Intestinal Obstruction

Recurrent infections

Pancreatic failure (exocrine and endocrine)

Allergic Bronchopulmonary Aspergilliosis

Nasal polyps and sinusutus

Cirrhosis of the liver

Restricted growth

Emotions

Airway leaks (males)

Sterility in males

224

What is the initial investigate performed in newborn screening for CF?

Levels of immunoreactive tripsin are tested for on the Gutherie Card (with the blood collected via heel prick test).

225

If IRT is high when testing for CF, what tests are performed next?

CFTR gene mutations screened for on Gutherie Card

(most common is delta F507)

+/-

Sweat Test

226

What is the incidence of CF?

What inheritence pattern is it?

What is the most common genetic mutation causing CF?

1:2500

autosomal recessive

Delta F507 (Long arm of Chromosome 7)

227

What is tested for on newborn screening?

Congenital hypothyroidism

CF

Metabolic disorders eg. PKU

228

What is the DDx of a wheeze?

Concerning Airway Wall

Constrction

  • Asthma

Compression

  • Mediastinal mass
  • Congenial heart disease eg. causing L-R shunt and causing engorgment of the pulmonary vasculature

Structure

  • Bronchomalacia
  • Tracheomalacia
  • Bronchopulmonary Dysplasia

Concerning Airway Lumen

Pus / Infection

  • Bronchiolitis
  • Viral Induced Wheeze / Asthma
  • Pneumonia
  • Petussis
  • Croup (even though an URTI)

Gunk

  • CF

Other

  • FB

229

What are the causes of stridor?

With Fever

  • Abcess (peritonsillar - qunsiy, or retrophrayngeal)
  • Big tonsils / bacterial tonsillitis
  • Croup
  • Diptheria
  • Epiglottitis

Without Fever

  • Floppy airways (tracheomalacia, laryngomalacia)
  • Gagging on a foreign body
  • Hypersensitivity / haemangioma

230

How do you classify asthma in children?

Infrequent Intermittent

Frequent Intermittent

Persistent

  • Mild
  • Moderate
  • Severe

231

How do you classify asthma as infrequent intermittent?

Attacks are >6 weeks apart

No interval symptoms (morning cough / wheeze, night cough / wheeze, exercise tolerance, days at school missed)

232

How do you classify Frequent intermittent asthma?

Attacks are

No interval symptoms (morning cough / wheeze, night cough / wheeze, exercise tolerance, number of days missed at school)

233

How do you classify persitent asthma?

How do you further classify it?

Attacks

 

Mild = interval symptoms are less than 1 x per week

Moderate = 1 x per week

Severe = >1 x per week

234

What questions ascertain whether or not a person has interval symptoms?

Morning cough / wheeze?

Night cough / wheeze?

Reduced exercise tolerance? (Able to keep up with kids in sport / at school)

Missed days at school because of asthma?

235

What questions in the HOPC should you ask to classify a child's asthma?

Q - how often do you have attacks?

Q - when you do have attacks, do you have to

  • miss school
  • go to ED
  • be admitted to the ward
  • be admitted to ICU
  • take prednisolone (how many times have you used prednisolone in the last 12 months)

A - what triggers your asthma?

A - which medications allieviate it? Have you had to take prednisolone in the last 12 months? How often do you have to use your reliever?

236

What should be used in the treatment of infrequent intermittent asthma?

SABA prn

237

What treatment should be used for frequent intermittent asthma?

SABA prn

+preventor (ICS or chromone or LTRA or combination)

238

what treatment should be used for frequent presistent asthma?

SABA prn

Symptoms controller: ICS + or minus LTRA / cromone

LABA

oral corticosteroid

239

What would you look for on examination to ascertain the severity of a respiratory illness, such as asthma?

Primary Features

  • WOB
  • Neurological Status

Secondary Features

  • SPO2
  • HR
  • Ability to talk

240

What are the signs of increased WOB?

  • Increased RR
  • Cyanosis
  • Grunting
  • Nasal flare
  • Intercostal / Subcostal recession
  • Head bobbing

241

What is the mnemonic to remember the management of asthma?

OASIS

Oxygen

And (Amyophilline / MGSO4 if severe, in ICU)

Salbutamol

Ipatropium Bromide

Steroids

242

Describe the management of a mild exacerbation of asthma

Basics

  • make comfortable and reassure
  • paracetamol for comfort if febrile due to viral induced
  • assess hydration status: oral, NG or IV fluids if dehydrated (but avoid IV, procedure will make breathing more difficult)

Place and Person

  • Contact Paeds resp team, likely to be monitored in ED

Ix and Confirm Diagnosis

  • SpO2

Definitive Management

O - no oxygen unless SpO2 is 

A

Salbutamol - 6 puffs if 6

I

Steroids - 1mg/kg of prednisolone for 3 days

Plan / Follow Up

Medication review

Education RE asthma delivery devices

243

Describe the management of a moderate exacerbation of asthma?

Basics

  • Make the child comfortable
  • Paracetamol for comfort if febrile (viral-induced exacerbation)
  • Assess hydration status - encourage oral fluids, consider NGT or IV fluids if necessary, but try to avoid procedures as this may further upset patient

Place and Person

  • Contact paediatric team

Ix and confirm Dx

  • SpO2

Definitive Management

  • Oxygen via NP
  • A
  • Salbutamol - burst therapy:
    • Six puffs every 20 minutes x 3 if
    • 12 puffs every 20 mins x 3 if >6yo
  • Iprtropium bromide - not in moderate asthma in victoria
  • Steroids: 1mg/kg for 5 days

Follow Up

  • Medication review
  • Ensure correct use of asthma delivery devices

244

What is salbutamol burst therapy?

When should you give it?

6 puffs of salbutamol every 20 minutes x 3 if

12 puffs of salbutamol every 20 minutes x 3 if >6yo

In moderate or severe exacerbations of asthma

245

What is the trade name for ipratropium bromide?

Atrovent

246

When should you give ipratropium bromide?

(ie. in what severity of acute asthma)

 

how much should you give?

in severe exacerbations of asthma

 

4 puffs every 20 mins if

8 puffs every 20 minutes if >6 years old (with salbutamol)

247

What is the management of a severe exacerbation of asthma?

Basics

  • Comfort child (but the child is usually flat)
  • Paracetamol for comfort if febrile
  • Oral, NG or IV fluids if dehydrated

Place and Person

  • Contact paeds resp / paeds ICU
  • Contact PIPER if rurally

Investigate and confirm Dx

  • SpO2
  • ABG (if doesn't further upset child)

Definitive management:

  • Oxygen - via HFNP or CPAP or consider intubation
  • Salbtamol Burst therapy - MDI or nebulised
  • Ipretropium bromide
    • 4 puffs every 20 minutes if
    • 8 puffs every 20 minutes if >6yo, x 3
  • Steroids - IV methylprednisolone
  • MgSO4 or amiophilline in ICU

Follow Up

  • Medication review
  • Ensure correct understanding and usage of asthma delivery devices

248

249

Compare the rash in measels (rubeola) to the rash in roseola infantum (exanthem subitum)

Measels - the rash starts around hairline and spreads cephalocaudadly over 3 days

Roseola infantum - the rash starts on the trunk after a fever

250

How does the rash in rubella (German measels) present?

Begins of face and spreads cephalocaudadly

252

What are the different types of PCKD?

When does each present?

How common and severe is each one?

Autosomal Dominant PCKD presents later in life, is not as dangerous. Is more common.

Autosomal Recessive PCKD presents in infancy, is more dangerous. Is rare.

 

253

How do you differentiate MCKD with PCKD?

PCKD involved both kidneys

 

255

A 3-year-old boy with a large unilateral palpable mass found on examination, carried out because of his intermittent abdominal pain and recent onset of haematuria.

This is HSP

258

According to RH, what does a big spleen favour and what does lymphadenopathy favour?

A big spleen favours leukaemia, while
lymphadenopathy favours lymphoma

259

Chest X-ray – lungs have a ground glass appearance with air bronchograms

= ?

Hyaline Membrane Disease

260

What is SMA?

How does type 1 typically present?

Autosomal recessive degeneration of the anterior horn cells

SMA Type 1 presents at birth (if not as reduced FM beforehand). Typical signs include:

  • Tongue fasciulations
  • Lack of antigravity power in hip flexors / loss of tone
  • Absent deep tendon reflexes
  • IC recession

These babies will never sit and will die at 12 months due to respiratory failure.

Type 2 will sit but never walk.

Type 3 will walk

 

 

261

What is Friedrich's Ataxia?

What is it's clinical picture?

Autosomal recessive disorder causing degeneration of peripheral and spinal nerves.

It presents as:

  • Progressive ataxia
  • Optic atrophy
  • Kyphoscoliosis
  • Cardiomyopathy

 

 

262

What is ataxia telangiectasia?

What is it's clinical presentation?

Autosomal recessive condition

A disorder of DNA repair

 

Increased suscetibility to infection

Cerebellar signs / ataxia

Increased risk of ALL

263

Broadly speaking, what is the definition of the neurocutaenous syndromes?

What are the major types?

The skin and the nervous system are derived from the same embryological tissue.

Embryological distruption causes syndromes involving abnormalities to both systems. These are called the neurocutaenous syndromes.

Types include NF Type 1 and 2 as well as Tuberose Sclerosis and Sturge-Weber Syndrome

264

What is NF and how does it present?

A neurocutaneous syndrome.

Neurofibromata appear along the course of a peripheral nerve, including CNs. They may cause neuro signs if they are at a point at which the nerve passes through a bony foramen.

Cafe au lait spots and axillary freckling are common

265

What is Tuberous sclerosis?

How does it present?

An autosomal dominant neurocutaneous syndrome.

Cutaneous features include:

  • depigmented ash leaf patch
  • Roughened patches of skin (Shagreen patches) usually over the lumbar spine
  • Adenoma sebaceum (angiofibromatoma) in a butterfly distribution over the nose

Neurological features:

  • Infantile spasms
  • Epilepsy
  • ID
  • Develpomental delay

266

What is Sturge Weber Syndrome?

Port Wine stain over the distribution of the trigeminal nerve which is associated with a similar intracranial lesion.

In the most severe form this presents as eplispesy, ID and hemiplegia.

267

how do you differentiate between a conjugated and unconjugated hyperbilirubinaemia?

If conjugated is >15% = conjugated

If unconjugated is >85% = unconjugated

268

A full term infant is noted to be jaundiced at birth. His bilirubin is elevated at 205 umol/L (normal range;

Diagnosis?

Congenital CMV

269

What is alagille syndrome associated with?

Traingular facies

peripheral pulmonary stenosis / pulmonary valve stenosis

intra-hepatic biliary hypoplasia

eye defects

butterfly vertebrae

270

what is associated with a bounding peripheral pulse?

PDA

271

What is Dravet Syndrome?

Really a type of epilepsy

Dravet syndrome appears during the first year of life, often beginning around six months of age with frequent febrile seizures (fever-related seizures).

Can present as different types of seizures

Persist into later life, cause significant developmental delay

272

How migh rhabdomyosarcome present?

Head and neck are the most common sites of the tumor causes proptosis, nasal obstruction or blood stained nasal discharge

273

what is the treatment of Giardiasis?

oral metronidazole

274

A 2-week-old male infant presents with failure to thrive and recurrent vomiting.

He has a metabolic acidosis, high K, and low Na and Cl?

CAH

 

Congenital lack of mineralocorticoids and glucocorticoids gives rise to salt wasting and sometimes ambiguous genitalia because of increased androgens.

275

what do you use as ABx prophylaxis post splenectomy?

oral penicillin

276

What is Sandifer's syndrome?

Although not common Sandifer syndrome is seen in some babies with GORD and is not epilepsy.

277

A 7 month old girl with severe gastro-oesophageal reflux is staying with her grand parents. She has not been receiving her normal reflux medication. She is now having episodes of back arching and posturing of the head.

Sandifer's Syndrome

278

'fixed split of S2' = ?

ASD

279

what is the most common congenitall heart defect in Trisomy 21?

AVSD

280

How do you diagnose Hirschprung's?

Suction Rectal Biopsy

281

What is the significance of a recent infection in the context of intussception?

Looking for a pathological lead point

Peyers patches are often a lead point

(HSP can give a lead point as well)

282

What is another name of an undescended testis?

Cryptorchidism

283

At what age do you consider surgical referral in cryptorchidism?

What is the surgical procedure called and at what age is it performed?

If the testis hasn't descended by 3 months conisder surgical referral.

Orchidopexy is the name of the procedure, it is best done at 6-12 months of age

284

what are the risks of cryptorchidism?

are these risks reduced with orchidopexy?

What are the benefits of orchidopexy?

infertility and malignancy

these risks are not reduced with orchidopexy

 

improves the endocrine function of the testis and facilitates testicular self-examination, also reduces the risk of torsion and direct trauma.

285

What are the findings on blood film for G6PDD?

Heinz bodies

286

You are called urgently to see a 6 hour baby who is jaundiced. Upon history, you find that the ethnic origin of the baby is Anglo-Saxon and that there is some history of ‘blood problems’ in the family. You are told by the consultant that a blood film will confirm the diagnosis.

 

What is this and what owuld you find on blood film?

Spherocytosis is more common in white ethnic groups and the classic blood film picture is of round spherical red blood cells.

287

On a routine GP checkup, the doctor notes that a 3 week old baby is jaundiced. The mother complains that his urine constantly stains his clothes a dark colour and that his stools are an unusual colour and has a strong odour. A liver biopsy is needed to confirm the diagnosis.

What is this?

Biliary atresia is a potentially fatal condition if not picked up early. It presents with conjugated jaundice after day 14 of life and requires a liver biopsy before urgent surgery (where a final diagnosis is made based on intraoperative cholangiography). Choledochal cysts can usually be diagnosed on ultrasound and do not require a liver biopsy.

288

A 15 year old girl complains of severe throat pain and lethargy. On examination, you find petechiae on her palate and cervical lymphadenopathy.

 

What does this girl have?

EBV

Apparently petichae are a classical finding

289

An 11 year old boy suffers from disabling runny noses during springtime and the summer.

 

What should you give him?

What shouldn't you give him?

Intranasal corticosteroids are first-line for allergic rhinitis.

INCS have been shown to be superior to antihistamines in controlling nasal symptoms of AR.

Nasal decongestant sprays are not recommended due to the potential long-term effect of rhinitis medicamentosa.

Other effective therapies also need to be used with care. In cases of severe nasal blockage, intranasal decongestants can be used for 2–3 days to improve access to the nasal mucosa for INCS, but overuse of these can result in rhinitis medicamentosa.

290

A one-year old boy is brought to ED after experiencing a seizure at home. On examination, he has a temperature of 40oC. He is admitted to hospital, where the team note that he develops a maculopapular rash on his neck as his fever subsides.

Roseola infantum

"Fever subsides --> rash"

A very common cause of fever

291

Strep agelcactiae = what on microscopy?

Neisseria meningidites = what on microscopy?

Gram +ve cocci

Gram -ve diplococci

292

What virus causes hand, foot and mouth disease?

Cocksakie A

293

A fifteen-year-old boy is brought to the GP, complaining of sudden onset of fever and headache. He is crying, complaining of severe pain in his muscles and joints, as well as behind his eye. He recently returned from a family holiday to Cambodia and Laos. His FBE shows a leukopenia and thrombocytopenia.

 

What is this?

Dengue fever – also known as ‘breakbone’ fever – usually presents with sudden onset fever, headache, retro-orbital pain, arthralgias and myalgias. Leukopenia and thrombocytopenia are common findings on FBE. It is reported to be excruciatingly painful.

294

Describe the classification of burns according to the RCH?

Surface:

Superficial – dry, minor blisters, erythema

Superficial dermal – moist, reddened with broken blisters

Deep dermal – moist white slough, red mottled

Full thickness – dry, charred whitish

CRT:

Superficial, superficial dermal – brisk

Deep dermal – sluggish

Full thickness – absent

Pain:

Superficial, superficial dermal – painful

Deep dermal, full thickness – painless

295

What is the most important component of neonatal resus?

Opposite to adult resuscitation: ventilation is more important than chest compressions, but both may need to be performed.

296

What is the name for the onset of female breast development?

Thelarche

297

What is the name for the onset of androgen-dependent body changes such as growth of axillary and pubic hair, body odor, and acne

adrenarche

298

What is adrenarche?

the onset of androgen-dependent body changes such as growth of axillary and pubic hair, body odor, and acne

299

What is thelarche?

The onset of female breast development

300

What is a posterior urethral valve?

How common is it?

Why is it a problem?

 

What is it?

An abnormal leaflet of tissue exists in the urethra, causing an obstruction to urine flow. It is a developmental anomaly, present before birth and only affects boys.

How common?

PUV is rare, occurring in 1 in 4000-6000 boys

Why is it a problem?

Urethral blockage near the bladder makes it hard for the bladder to expel urine, so the bladder has to push harder to try to empty. This increases pressure in the urinary tract. The pressure may push the urine back through the ureters to the kidney and cause the ureters, kidneys and bladder to dilate (expand). 

 

301

What are the investigations, management and prognosis of posterior urethral valves?

Investigations...

  • UEC
  • Ultrasound (antenatally or posnatally)
  • Micturating cystourethogram (MCU) 
    • This is the definitive test for PUV. It is performed with a catheter placed through the urethra into the bladder. Contrast material is injected through the catheter to outline the bladder. An X-ray is taken which will show the shape of the bladder, whether there is any back flow up the ureters (reflux). Xrays are taken to identify the contrast outlining the urethra and any internal obstruction (valve). 
  • Cystoscopy 
    • This is both a confirmatory and therapeutic intervention. It is a surgical procedure, performed under anaesthesia. A small telescope is placed inside the urethra to identify the obstruction. Treatment of the valves can be performed at the same time. Other tests may be needed to check the function of the kidneys, the drainage, and to monitor treatment

Management

Catheter insertion then ablation via cystoscopy

Prognosis

About one third will develop kidney failure at some stage, requiring dialysis or renal transplant. 

About one third of patients will have a degree of renal impairment, managed with medication and diet. 

About one third of patients will have normal kidney function, but may have ongoing issues with urinary tract drainage, infection and bladder function.

302

303

What is the rule about brain tumors in children?

What is the most common type of brain tumor in a kid?

Almost always are primary

60% are infratentorial (most are supratentorial in adults)

 

Most common type = (cerebellar) astrocytoma

304

What is the keyhole sign?

An ultrasonographic sign showing PUV

305

When do you measure APGARs?

1 minute

5 minutes

(Maybe again at 10 minutes and five minutely intervals after that)

306

How do you grade VUR?

Grade 1: reflux limited to ureter

Grade 2: reflux up to the renal pelvis

Grade 3: mild dilatation of ureter and pelvicalyceal system

Grade 4: tortuous ureter with moderate dilatation, blunting of fornices but preserved papillary impressions 

Grade 5: Tortuous ureter with severe dilatation of ureter and pelvicalyceal system, loss of fornices and papillary impressions

307

What is the eponymous name of an innocent murmur?

 

What is the main DDx?

 

What should you do if you are a GP and you note an innocent murmur when a child is sick?

Soft
Systolic
Short
Sounds (S1 & S2) normal - THIS IS THE MAIN DDX FROM ASD
Symptomless
Special tests normal (X-ray, ECG)
Standing/ Sitting (vary with position)

 

The main DDX is ASD

 

Get the child to come back when they're well, and make sure the murmur is not still there

310

When is posterior urethral valve usually diagnosed and what is the clinical presentation?

Clinical presentation depends on the severity of obstruction. 

Severe obstruction

  • diagnosis is usually made antenatally
  • Potters Sequence
  • Oligohydramnios

Less severe cases

  • the diagnosis is often not apparent until early infancy
  • Weak flow / stream
  • Recurrent UTIs

311

What is a MCUG?

How is it performed?

When should you do it?

What can it help you DDx?

Micturating Cysto Urethro Gram

Inject contrast into bladder through the urethra.

In those who can't urinate on demand. Also note that it is invase and unpleasant, and gives a high dose of radiation.

Can visualise bladder and urethral anatomy. Can diagnose Vesicouretertic reflux, Posterior urtheral valve and obstruction (pelviureteric junction obstrutcion, vesicoureteric junction obstruction)

313

What ultrasonographic sign is pathagnomonic of PUV?

Keyhole sign

315

What do you use to identify VUR?

If can urinate on demand: MAG 3 renogram (put radioisotope in blood)

 

If can't urinate on demand: MCUG (put contrast into bladder through urethra)

316

317

what infection acquired in NVD can cause neonatal conjunctivitis & pneumonia?

Chlamydia

318

Which infection only causes vaginal discharge and is not routinely screened for but increases the risk of miscarriage and preterm labour?

Bacterial vaginosis

319

What is the management of HSP?

Basics

Joint pain / abdominal pain – paracetamol and bed rest (not NSAIDs due to renal risk).

  • NB. There is some evidence that steroids may improve abdominal pain.

 

Place and person

Refer for surgical review if possible surgical requirement – intussusception, testicular torsion, bowel perfiration

 

Investigate and confirm diagnosis

Monitor BP

Monitor urine dipstick and urine microscopy

Monitor UEC?

 

Non-invasive management

Rest (joint pain)

 

Definitive management

Supportive care and frequent monitoring (including  BP and urine dipstick)

  • HSP nephritis (IgA nephropathy) can occur at the time of HSP, or 6 weeks – 6 months later. Continue to screen for this time.

 

Long term

The use of prednisolone has not been shown to make clinically important improvements in the rate of long-term renal complications – this was recently removed from the RCH guidelines!

320

Tongue atrophy and fasciculations
Paradoxical breathing pattern
Severe proximal muscle weakness
Absent tendon reflexes

 

 

Diagnosis?

Spinal Muscular Atrophy Type 1

321

Ataxia

Weakened Immune System

Increased risk of cancer

 

= diagnosis?

 

 

ataxia telangiectasia

322

What are the features of ataxia telangiectasia?

Ataxia

Weakened immune system

Increased risk of cancer

323

What are the features of spinal muscle atrophy type one?

Tongue fasciculations

Absent deep tendon reflexes

Severe proximal muscle weakness

paradoxical breathing pattern

324

What is involved in an anti body screen in a new diagnosis of T1DM?

—islet cell antibodies

insulin antibodies

GAD (confirm T1DM)

IgA level

antiendomyseal

anti-gliadin

tissue transglutaminase antibodies

TFTs

325

How does the newborn hearing screen work?

Ears are covered, connected to the earphones, emit a series of soft 'clicking' sounds. 

 

There are 3 sensor tabs that are placed on the baby’s neck, shoulder and forehead that measure auditory nerve (8th nerve) activity in response to the sound played. 

326

What are the three possible results of a newborn hearing screen?

*Pass

*Repeat – there was not a clear response to sound on the first screen. Another hearing screen will be arranged.

*Refer – a clear response to sound was not recorded during two hearing screens. Further hearing testing is recommended.

327

What further hearing testing can be organised?

Behavioural Tests

  • Behavioural observation audiometry (BOA)
  • Visual reinforcement orientation audiometry (VROA)
  • Play audiometry

Electro-physiological Tests

  • Oto-acoustic emission testing (OAE)
  • Brainstem evoked response audiometry (BERA)
  • Electro-cochleography (EcoG)
  • Tympanometry and acoustic reflex

328

Jenny is 5 years old. She has started school this year. Her teacher has expressed concern to her parents about her hearing, as she doesn’t seem to be listening at school.

 

What are your DDx?

Hearing

 

Behavioural

Oppositional defiant disorder

Conduct disorder

ADHD

Autism Spectrum Disorder

 

Intellectual Disability

329

How do you tell the difference between sensorineural and conductive hearing loss on an audiometry curve?

Same curve for bone and air conduction = Sensorineural hearing loss

Different curve = conductive hearing loss

330

What is the difference between conduct disorder and oppositional defiant disorder?

Unlike children with conduct disorder, children with oppositional defiant disorder are not aggressive towards people or animals, do not destroy property, and do not show a pattern of theft or deceit

331

What is normal hearing as represented on an audiogram?

Hearing at 0-20dB at all frequencies for both bone and air conduction

332

Describe how right, left, bone and air conuction are represented on an audiogram?

Right = Red = Circle

Left = Blue = Cross

 

334

What are the systems questions used in DKA?

Causes

  • Recent infection / stress / adherence to insulin

Symptoms

Think: DKA

  • D - polyuria, polydipsia, eneuresis, LOW
  • K - abdominal pain & nausea
  • A - increased respiratory rate

Complications

  • Recurrent infections
  • Recurrent hypos
  • Neurological status

335

What are trhe investigations required in DKA?

Bedside Tests

  • Insert urinary catheter to monitor urine output
  • Glucose / ketones finger prick
  • Urine disptick if suspect infection

Labratory Tests

  • Serum gluocse and ketones?
  • UEC
  • VBG - especially potassium
  • Urine MC&S if suspect infection

Secondary Investigations

  • Septic screen if suspect infection
  • C peptide if overweight and suspect T2DM
  • If first presentation - insulin antibodies, GAD antibodies, coeliac screen, TFTs

336

What investigations should you order in a first presentation of T1DM?

insulin antibodies

GAD antibodes

Coeliac screen

TFTs

337

What are the signs of dehydration?

Genral appearance

  • neurological status (GCS, flat / floppy)

Vitals

  • Tachypnoeic
  • Taccycardic
  • Hypotensive

Hands

  • Cold peripheries
  • Mottled skin

Head & Chest

  • Sunken fontanelles
  • Dry mucous mebranes
  • Central capillary refill
  • Sunken eyes
  • Reduced skin turgor

Fluid balance

  • urine output
  • wet nappies
  • crying tears

 

 

338

What are the differential diagnoses of DKA?

Other causes of hyperglycaemia

  • T2DM in overweight children
  • transient hyperglycaemia when sick

D

  • Polyuria / polydipsia - UTI

K

  • abdominal pain & vomiting - gastroenteritis / appendicitis

A

  • Kussmauls breathing - pneumonia

339

How do you assess degree of dehydration, and to what % of body weight does this corelate?

 

What do you have to be careful about when making this assessment in DKA? Therefore, do these children always require a fluid bolus?

None/Mild (

  • no clinical signs

Moderate (4-7%):

  • easily detectable dehydration eg. reduced skin turgor, poor capillary return

Severe(>7%):

  • poor perfusion, rapid pulse, reduced blood pressure i.e. shock

 

Not all patients in DKA require fluid boluses. Remember acidosis itself results in poor peripheral perfusion and confounds accurate assessment of dehydration. Peripheral perfusion will improve with correction of the acidosis (with insulin).

340

At what rate should one replace the fluid deficit in DKA?

Quite slowly!

Look up RCH guidelines.

Not as quick as you would replace fluid in a case of gastroenteritis.

341

What is the management of DKA?

  1. Resuss
    • intubate if GCS
    • bolus fluid (NaCl) if severe dehydration
  2. Fluids
    • 0.9% NaCl
    • + 5% dextrose when BGL drops below 12 - 15
    • + K+ when drops below 5.5
  3. Insulin
    • 50U act rapid

342

What fluids do you administer in DKA?

  1. 0.9% NaCl administered slowly
  2. Add 5% dextrose when BGL drops to 12-15
  3. Add K+ when level drops below 5.5 (only if not anuric)

344

What is the criteria for a diagnosis of T1DM?

 

What is the criteria for diagnosis of DKA?

If they don't meet this criteria, how can they be managed?

To diagnose T1DM random BGL is > 11

 

The biochemical criteria for DKA are:

 1.       Venous pH

 2.       Presence of blood or urinary ketones

If ketones are negative, or the pH is normal in the presence of ketones, patients can be managed with subcutaneous (s.c.) insulin

345

How should you investigate suspected T1DM in a child in whom you don't suspect DKA / looks too well / in a GP setting rather than ED?

  • Random BGL > 11
  • Ketones
    • If >0.6 assess VBG
      • If acidotic = DKA
  • Sedcondary Ix [if GP would refer to apediatrician]
    • insulin antibodies
    • GAD antibodies
    • Coeliac screen
    • TFTs
    • If overweight
      • C peptide
      • LFTs
      • Lipid profile

346

What is your initial management of a child with T1DM who is not in DKA but mildly unwell?

0.25U/kg of S.C. fast acting insulin

Half dose if

347

What dosage of insulin is required per day in either regimen?

i.e. what is the total daily dose?

1 unit / kg / day

348

What are the two types of insulin regimens?

  1. Premixed regimen / bd
  2. Basal bolus regimen / MDI / tds

349

What insulin is used in the bd / premixed regimen?

Long acting: Levemir (Detemir)

Short acting: Novorapid (Aspart)

350

What insulin is used in the tds / MDI / basal bolus regimen?

Long acting: Lantus (Glargine)

Short acting: Novorapid (Aspart)

351

How do you calculate the bd insulin regimen?

—Give 2/3 of total insulin in the morning

  • —Of which 2/3 is long acting
  • —Of which 1/3 is short acting

—Give 1/3 of total insulin at night

  • —Of which 2/3 is long acting
  • —Of which 1/3 is short acting

352

how do you calculate the tds insulin regimen?

—Give 40% of total insulin as lantus (glargine) at night

  • —Will peak at 11 hours for breakfast time

—Give tds novorapid (aspart) as 20% of total insulin with each meal

353

when would you favour a bd regimen over a tds regimen?

Chosen for younger children, usually. Who can't check sugar levels / administer insulin at school

 

  • This one can be administered before and after school.
  • But have to be more rigid in terms of timing of eating and having insulin at the same time every day.

354

when would you favour a tds insulin regimen?

This one requires the child to check BGLs and be able to give insulin at lunchtime at school, independently.

Therefore, are usually a bit older.

Technically better, because having novorapid more frequently

355

What are the calculations for maintenance fluids?

4:2:1 mls / kg / hour

100:50:20 mls / kg / day

356

How do you classify the severity of an asthma attack?

WOB

Mental status

HR

Ability to talk in sentences

357

what type of fluid do you give for ressus?

0.9% NS

358

What type of fluid do you give for deficit and maintenance fluid?

If suspect normal Na+ and K+

0.45% NS + 5% dextrose

 

If hyponatraemic (eg. pneumonia, SIADH etc)

0.9% NS + 5% dextrose

360

at what severity of asthma attack do you administer atrovent / ipatropium bromide?

how much do you give in victoria?

severe asthma attack only

8 puffs every 20 minutes for one hour if > 12 yo

4 puffs every 20 minutes for one hour if

361

What are the DDx of petichiae in a child?

Sepsis (meningococcal)

Henoch-Schonlein Purpura / Haemolytic uraemic syndrome

Idiopathic Thrombocytopenic Purpura (ITP)

Events (non-accidental or accidental)

Leukaemia

Disseminated intravascular coagulation (usually in the context of severe illness)

362

What investigations are required for haematological cancers?

FBE

Blood film

BMAT + immunophenotyping

363

How might you differentiate lymphoma and leukaemia, according to Rupert Hines?

A big spleen favours leukaemia, while
lymphadenopathy favours lymphoma

364

A) Isolated thrombocytopaenia = ?

B) rasied WCC but anaemia and thrombocytopaenia = ?

C) leukopaenia, anaemia, thrombocytopaenia = ?

A) ITP

B) ALL / AML

C) Aplastic anaemia

365

Which tumour ariseas from soft tissue and connective tissue, is rare in children but arises in the nasopharynx!

Rhabdomyosarcoma

366

What are the causes of paediatric vomiting?

žFood allergy

žAtresia (often duodenal)

žMeconium Ileus

žIntusscessption

žNEC

žEosinophilic Oesophagitis

žHirshbrungs

žImperforate Anus

žPyloric Stenosis

žGOR / GORD

žAppendicitis & strangulated inguinal hernia

žIntestinal Malrotation

žTracheo-Oesophageal Fistula

367

What are the overall causes of paediatric vomiting?

Infectious

  • Gastro
  • Pneumonia
  • Pertussis
  • Meningitis

Endocrinology

  • DKA
  • Errors of inborn metabolism

Neurological

  • Increased ICP
  • Meningitis

Gastroenterology

  • FAMINEHIPGAIT

 

368

What are the causes of diarrhoea in children?

TIP MIT

Toddler’s Diarrhoea (undigested food)

Infectious – Gastro

Post-Gastroenteritis syndrome (a temporary lactose intolerance)

Malabsorption (Coeliac, CF)

IBD

Thyroid

369

When does GOR become GORD?

  • Nasopharyngeal issues eg. sinusitis
  • Oesophagitis
  • Oesophageal mediated respiratory reflexes
    • Apneas
    • Stridor
  • Upper airway issues eg. laryngitis
  • Lower airway issues eg. aspiration pneumonia, asthma
  • Oral aversion to feeds

370

371

When do you vaccinate premature babies?

Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks) Future vaccines should not be adjusted for prematurity and given according to chronological age

372

When can premature babies start breastfeeding?

Extremely premature babies need parenteral nutrition, while less premature need nasogastric until sucking-swallowing coordination developed (@ 36-37 weeks).

Usually add pentavite and Fe supplementation to feed

373

When do you vaccinate premature babies?

Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks)

Future vaccines should not be adjusted for prematurity and given according to chronological age

374

What kinds of fractures set of immediate alarm bells for you for child abuse?

Any fracture in a child

Metaphyseal fractures (more often than not related to abuse)

375

The ED registrar has called you to review a child because they have some suspicious bruises and they are concerned there could be child abuse/neglect. What questions will you ask the parents when you interview them?

CHILD WORD

 

C â€" Caregivers (who are all the people who look after the child)

H â€" Hospital presentations previously?

I â€" Injuries previously?

L â€" Little brothers and sisters?  (Relevant to their safety as well)

D â€" Drug and alcohol use?

 

W â€" Wanted? Was the child planned?

 â€" Crying, is the child often miserable? (can be cause OR effect of abuse)

R â€" Resources, financial and social. How is the family going?

D â€" Depression? Post natal or otherwise poor mental health?

 

Plus a normal paeds history including antenatal, birth, developmental and growth histories.

376

You are paediatric endocrinology and the consultant asks you what you know about congenital adrenal hyperplasia. What do you say?

  • Autosomal recessive condition causing partial or total defect 
of enzymes required for cortisol and aldosterone production
  • Occurs in 1/15,000 live births and is the most common cause of ambiguous genitalia 

  • The salt-wasting form of CAH is a medical emergency - babies can die of vomiting, dehydration and shock at 2-4 wks of age.

 

Etiology

  • 21-hydroxylase deficiency causes 95% of CAH cases; this causes decreased cortisol and aldosterone with shunting toward overproduction of androgens 

  • Cortisol deficiency leads to elevated ACTH, which causes adrenal hyperplasia 


 

Clinical presentation

Depends on the specific deficiency and the cause - may present with shock and hyperkalemia if not suspected. Can be divided into:

 

Salt-Wasting 21-Hydroxylase Deficiency (2/3 of cases)

Infants present with shock, FTT, low Na+, high K+, low Cl, low glucose, adrenal insufficiency, high ACTH, hyperpigmentation of genitals and areola and postnatal virilization 


 

Late-Onset 21-Hydroxylase Deficiency 


Allelic variant of classic 21-hydroxylase deficiency- mild enzymatic defect 


Girls present with amenorrhea 


Boys present with precocious puberty with early adrenarche, dehydration 


 

Simple Virilizing 21-Hydroxylase Deficiency

Virilization in girls but not boys 


 

11-Hydroxylase Deficiency 


Sexual ambiguity in females


May have insidious onset; may present with hirsutism, occasionally hypertension 


 

17-Hydroxylase Deficiency 


Sexual ambiguity in males, hypertension

 

Investigations 


  • Low Na+, high K+, low cortisol, high ACTH if both glucocorticoid and mineralocorticoid deficiency
  • increased serum 17-OH-progesterone (substrate for 21-hydroxylase) 

  • increased testosterone, DHEAS


 

Treatment 


  • glucocorticoid replacement to lower ACTH

  • in salt-wasting type mineralocorticoids given as well

  • spironolactone is used in late-onset 21-hydroxylase deficiency as anti-androgen
  • surgery to correct ambiguous genitalia 


 

377

At what gestational ages would you order a triple test or a quad test?

What is involved in each test at and what gestational ages?

What can each of these tests screen for?

No ultrasound in quad test, just four serum biomarkers.

The quad test is free in Victoria, but less sensitive with a 5% false positive rate.

378

What are the risks to both mum and bubs of twin pregnancies?

Risks to fetuses

  • PROM and Pre-term birth (PTB)
    • PTB is the biggest cause of multi fetal M&M
    • PTB at 24-32 weeks affects:
      • 1% of singletons
      • 5% DC twins
      • 10% MC twins
  • Cord Prolapse
    • Polyhydramnios, PPROM and malpresentation can lead to cord prolapse
  • Antepartum and post partum haemorrhage
  • Congenital malformation
  • Twin-twin transfusion syndrome (TTTS)
    • 10-15% of all monochorionic gestations
    • ​If untreated, severe early-onset TTTS is associated with a perinatal mortality rate of over 90%.

Maternal complications

  • Hyperemesis gravidarum
  • Anemia (greater haemodilution)
    • Iron and folic acid supplementation recommended
  • Gestational Diabetes 
  • Antepartum and post partum hemorrhage
    • Larger placental surface area, uterine over distension,
  • Higher rates of operative birth
  • Postnatal depression
  • Maternal mortality â€" Two fold higher in twin pregnancies.

379

You are called to neonatal code blue. A baby has just been born with no respirations or muscle tone. Describe your actions.

  • Call for senior help/call code
  • Don PPE/gloves
  • History
    • Gestational age
    • mec stained liquour
    • mothers GBS status
    • maternal fever
    • complications in labour?
  • Stimulate the baby for 30 secs, check HR and RR with stethoscope
  • If inadequate resps commence IPPV on room air whilst attaching Spo2 and telemetry
    • PIP (30 cmH2O for a term infant or 20 - 25 cmH2O for a preterm infant), PEEP 5cm
  • If no response after 30 seconds and HR
  • At this stage consider intubation, adrenaline and 10ml/kg normal saline through umblical artery
  • Titrate oxygen to time of life

380

What do you know about Wilm's tumours?

  • Most common in preschool aged children
  • Rapidly growing retroperitoneal tumour
  • Often asymptomatic mass
  • May rupture, bleed and cause pain (20%)
  • Haematuria and HTN occur in some patients. Can cause an aquired vWD.
  • Surgery and chemotherapy achieve 90% cure rates
  • Metastasize very late

381

What do you know about neuroblastoma?

  • Most commonly arises from the adrenal glands
  • Variable biology: may spontaneously regress or be chemo-refratory
  • 75% metastatic disease at diagnosis
  • May infiltrate abdomen, thorax and spine. Lymph nodes and BM are common metastatic sites
  • May have interesting paraneoplastic effects:
    • Opsomyoclonus (dancing eyes, dancing feet syndrome)
    • Excessive catecholamines: flushing, tachycardia, HTN
    • VIP secretion â€" severe refractory diarrhea with FTT and low K+
  • Diagnosis
    • Urinary cathecholamines are raised in 90%
    • Biopsy for tissue diagnosis and risk stratification
    • CT/MRI
    • BMAT
    • MIBG (radioisotope) scan can show areas of cathecholamine synthesis
  • Treatment
    • Surgery for low risk disease. More intensive chemo-/radio- therapy for worse disease.

382

At what point in gestation is hyperglycaemia most dangerous? Why is this?

The first trimester

Fetuses don't make their own insulin until 14 weeks so hyperglycaemia before this is teratogenic

383

A 15-year-old boy presents to a physiotherapist complaining of tenderness near the base of his thumb. He recalls falling during cross country running about 1 week ago.

 

A - Fractured radius

Metaphyseal fractures have a peak incidence during the adolescent growth spurt (girls aged 11-12 years, boys 12-13 years) due to weakening through the metaphysis with rapid growth.

384

What is a buckle's fracture?

Failure of a child's bone in compression results in a "buckle" injury, also known as a "torus" injury. These most commonly occur in the distal metaphysis, where porosity is greatest.

385

What type of fracture does a FOOSH cause in a kid under 10 versus an adult?

In an adult a FOOSH = radial fracture. In a kid FOOSH = suprcondylar fracture

386

What type of childhood cancer is associated with familial adenomatosis polyposis?

Hepatoblastomaa

387

Buzz word diagnosis...?

Ultrasound shows small baby + choroid plexus cysts + ‘rocker bottom feet’ = what syndrome?

[hint: usually hasn’t had screening test]

Edward’s Syndrome (Trisomy 18)

The majority of fetuses with the syndrome die before birth.

388

Ultrasound shows foetus has a cystic hygroma = what syndrome?

Turner’s Syndrome

45XO

 

Cystic hygromas are benign and can happen to anyone, but most common in context of Turner's syndrome

389

Buzzword diagnosis:

Ultrasound shows frontal bossing with head and AC on the 50th centile but all four limbs below the 3rd centile

Achondroplasia

A common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or it may be inherited as an autosomal dominant genetic disorder.

390

A child presents with diarrhoea, short stature, weight loss and eczema. What is the diagnosis and what other symptoms may they have/develop?

Shwachman-Diamond syndrome --> a rare autosomal recessive disorder

Recurrent infection is common due to neutropenia.  Hearing loss may occur secondary to recurrent otitis media.  Symptoms of bone marrow supression  

After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.

391

What is Alagille syndrome and what is it associated with?

Rare genetic condition that causes the bile ducts to be narrow, malformed, and reduced in number (bile duct paucity). This causes jaundice, hepatosplenomegaly.

Also associated with Tetralogy of Fallot, skeletan and eye deformities and a characteristic facial appearance

 

392

What is Beckwith Wiedemann Syndrome and what is it associated with?

An overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

Common features used to define BWS are:
- macroglossia (large tongue),
- macrosomia (above average birth weight and length),
- midline abdominal wall defects (omphalocele/exomphalos, - umbilical hernia, diastasis recti),
- ear creases or ear pits, and
- neonatal hypoglycemia (low blood sugar after birth).

 

Associated with increased risk of cancer, specifically Wilms' tumor (nephroblastoma), pancreatoblastoma and hepatoblastoma

393

What is ataxia telangectasia and what is it associated with?

A rare, neurodegenerative, inherited disease causing severe disability. 

A-T affects many parts of the body:

  • It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination.
  • It weakens the immune system, causing a predisposition to infection.
  • It prevents repair of broken DNA, increasing the risk of cancer.

It is associated with leukaemias and lymphomas

394

What is Peutz-Jeghers syndrome and what is it associated with?

Peutz Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of:

  1. benign hamartomatous polyps in the gastrointestinal tract and
  2. hyperpigmented macules on the lips and oral mucosa 

Associated with cancer!

While the hamartomatous polyps themselves only have a small malignant potential, patients with the syndrome have an increased risk of developing carcinomas of the pancreas, liver, lungs, breast, ovaries, uterus, testicles and other organs.

395

What is the classic clinical picture of Roseola?

What are the complications?

Tends to occur in younger (6-36 months) children with high fevers preceding a sudden rash that begins on the trunk.

The rash can last from a few hours to 3 days

Essentially no worrying complications, conservative management. Can cause febrile convulsions (like any febrile illness) or otitis media.

 

396

What are the symptoms of Rubella?

Rash / exanthem â€" not raised (c.f. measles), often starts on the face in children then spreads down the neck, trunk and extremities

Enanthem â€" Forchheimer’s spots

Lymphadenopathy is common

Constitutional symptoms: conjunctivitis, arthralgia, malaise, fever, coyza

397

A woman insists on drinking alcohol in pregnancy, you have been asked to educate her about fetal alcohol syndrome. What complications/features of FAS do you inform her about?

  1. IUGR
  2. Facial dysmorphisms (see photo)
  3. Global cognitive or intellectual deficits representing multiple domains of deficit
  4. Social problems

398

What is this?

Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

399

What is this?

Aplasia cutis (sometimes called ‘aplasia cutis congenita’) is a condition where a newborn child is missing skin from certain areas.

400

What is this?

Acrodermatitis enteropathica is a rare genetic disorder characterised by diarrhoea, an inflammatory rash around the mouth and/or anus, and hair loss.

Acrodermatitis enteropathica is due to malabsorption of zinc through the intestinal cells.

It is autosomal recessive

401

What is this?

Linear epidermal nevus/Lines of Blaschko

Epidermal naevi are due to an overgrowth of the epidermis. Lesions are present at birth (50%) or develop during childhood (mostly in the first year of life). The abnormality arises from a defect in the ectoderm. This is the outer layer of the embryo that gives rise to epidermis and neural tissue.

402

What is this?

Incontinentia pigmenti --> an dominant X-linked disease

ASSOIATED WITH TEETH, EYE AND CNS PROBLEMS

403

What is this?

Cutis marmorata telangiectatica congenita (CMTC) is a rare, deep purple, marble- or net-like birthmark. It is mostly cosmetic, and while it is present at birth, it fades considerably over a child's first year.

404

What is this?

Ash lead macules --> associated with tuberous sclerosis.

Note the hypopigmented macules, in contrast to vitiligo where there is NO pigmentation

405

What is this?

Congenital melanocytic naevus

proliferations of benign melanocytes (pigment cells) that are present at birth or develop shortly after birth.

 

The risk of melanoma is mainly related to the size of the congenital melanocytic naevus. Small and medium sized congenital melanocytic naevi have a very small risk, well under 1%. Melanoma is more likely to develop in giant congenital naevi (lifetime estimates are 5-10%), particularly in lesions that lie across the spine or where there are multiple satellite lesions.

406

What is this?

What is the management?

Umbilical granuloma

Common condition resulting from low-grade infection of umbilical stump. Presents soon after cord separation as red, friable granulation tissue in region of umbilicus.

The key to treatment is early application of silver nitrate three times daily applied directly onto granulation tissue. Protect surrounding skin with Vaseline.

407

What is this? What is the management?

A sebaceous naevus is an uncommon type of birthmark. Present at birth, it is most often found on the scalp, but sebaceous naevi may also arise on the face, neck or forehead. It consists of overgrown epidermis (upper layers of the skin), sebaceous glands, hair follicles, apocrine glands and connective tissue. It is a type of epidermal naevus and is classified as a benign hair follicle tumour. A sebaceous naevus is also called an organoid naevus because it may include components of the entire skin.

Monitor and refer to derm. Probably no Tx required.

408

This is a 5 day old baby. What is the diagnosis and suggested management?

Congenital dermoid cyst

Common and easily resectable

409

What is this?

What is the prognosis and management?

Haemangioma --> occurs in 10% of babies, come up in first few weeks of life.

It grows grows rapidly in the first 6 months of life and then slows down. It looks like a strawberry, or if they arise deeper in the skin they can look like a blueish lump. 

The vast majority regress completely by age 3, but about 10% may take until age 9-10 to regress.

They can ulcerate and become secondarily infected or bleed.

Because infantile haemangiomas are likely to improve or regress completely with time, there is no need for specific treatment in most cases. Treatment should be considered in the following circumstances.

  • Very large and unsightly lesions
  • Ulcerating haemangiomas (up to 5-25% of lesions)
  • Lesions that impair vision, hearing, breathing or feeding
  • If they fail to resolve by school age

410

What is this? What is it associated with?

Port Wine stain over the ophthalmic and maxillary branches of trigeminal nerve

Associated with Sturge-Weber syndrome --> a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.

Worry about epilepsy, paralysis and ID

Most cases of Sturge-Weber are not life-threatening. The patient's quality of life depends on how well the symptoms (such as seizures) can be prevented or treated.

Patients will need to visit an ophthalmologist at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.

411

You are treating a 7yo child in ED for severe asthma. The nurse assisting you offers to insert an IV line for IV steroids, what do you tell her?

There is no evidence that IV steroids are any more effective than PO steroids for asthma exacerbations.

Their role is just for kids who can’t tolerate PO meds (like if they’re vomiting).

412

When is bronchiolitis most severe?

Bronchiolitis is always worst on day 3, counting day 1 as the first day of respiratory distress (not day 1 of the coryza)

413

What is this USS showing?

The keyhole sign is an ultrasonograhic sign seen in boys with posterior urethral valves. It refers to the appearance of posterior urethra which is dilated, and associated thick walled distended bladder which on ultrasound may resemble a key hole.

414

What are the causes of recurrent UTI in children?

  • Idiopathic
  • Vesicoureteric reflux with or without radiographically evident structural cause
  • Renal tract abnormality, eg: posterior urethral valves
  • Poor hygiene
  • Neurogenic bladder --> incomplete emptying
  • Voiding dysfunction/constipation

415

What investigations would you order for a child with a UTI?

For infants and children aged 6 months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI

 

  • Children
  • Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI. 

If indicated, a DMSA scan 4â€"6 months following the acute infection should be used to detect renal parenchymal defects. This is a nuclear med scan that looks for a renal scar that may have been caused by the UTI.

416

Hydrocephalus

What are the two types/causes in paeds?

What is the key sign in a newborn?

What clinical sign would suggest that ICP is increasing?

What is the mainstay of treatment?

 

Types/causes

Congenital hydrocephalus â€" is present from birth and is associated with other birth defects such as spina bifida and Dandy-Walker syndrome.

Acquired hydrocephalus â€" can be triggered by tumours, infection or bleeding within the brain that blocks the movement or absorption of CSF.

Key signs

of hydrocephalus in a newborn --> increasing head circumference

Sundowning (downward deviation of the eyes) occurs later on in infancy, as fontanelles close its easier for ICP to increase causing neuro Sx. 

Treatment

Mainstay of treatment is therapeutic LP and/or VP shunt

417

What are the three forms of neurofibromatosis?

How are they inherited?

What is the classical presentation of each?

NF1 â€" most common neurocutaneous syndrome

Autosomal dominant â€" chromosome 17, loss of functional NF1 gene, which is a tumour suppressor gene

  • Lots of cutaneous neurofibromas
  • cafe au lait spots (>6)
  • Axillary freckling
  • Lisch nodule in iris

NF2

Autosomal dominant â€" chromosome 22

Bilateral acoustic neuromas (think: NF2 for 2 ears!)

Schwannomatosis
Rare (1 in 40,000)
Similar to NF1/2 but get multiple schwannomas rather than neurofibromas

418

Tuberous Sclerosis

What is it?

How is it diagnosed?

What are the buzz words for clinical presentation?

What are the complications?

What is the management?

What is it?

  • Autosomal dominant condition, 66% of cases due to de novo mutations
  • Occurs in 1 in 5,000 - 10,000 births
  • Disorder is primarily caused by development of benign hamartomas affecting brain, skin, heart, kidneys, eyes, lungs and heart

How is it diagnosed?

  • Diagnosis is made clinically according to criteria (SLE/DSM style)

Buzz words/presentation

  • Ash leaf spots (hypopigmented)
  • Periungal fibromas
  • Shagreen patches
  • Facial angiofibromas
  • Forehead fibrous plaques

 

Complications

  • Epilepsy
    • Infantile spasms are the most common presenting seizure

  • Intellectual disability
  • Autism
  • Risk of invasive malignancy

Management

Symptomatic tx of seizures and ID

MRI every 1-3 years for monitoring for new brain lesions

Surgical treatment of brain lesions only undertaken if they are causing intractable epilepsy, hydrocephalus, haemorrhage, focal neurologic deficits etc.

419

Friedreich ataxia

What is it and how is it inherited?

What is the effect of Friedreich's ataxia on cognition?

 

What are the symptoms and prognosis?

What is it?

Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.

The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.

Symptoms

  • Worsening ataxia
  • Distal leg wasting
  • Absent lower limb reflexes (preserved extensor plantar response)
  • Pes cavus (high arch foot)
  • Dysarthria
  • Impairment of proprioception, vibration sense
  • Often optic atrophy
  • Associated with evolving kyphoscoliosis and cardiomyopathy that can cause cardiorespiratory compromise and death at 40-50 years.
  • No effect on cognition

420

Tay-Sachs disease

What is it?

What is the effect on an infant/child?

What are the buzz words?

What is it?

Tay-Sachs disease (TSD) is an inherited (genetic) condition common in some Ashkenazi Jews and French-Canadians. However, it can affect people of any nationality. A mutated gene stops the body from producing an enzyme needed for proper brain functioning. This leads to paralysis and death, usually before the age of five.

Symptoms/effect

Symptoms first appear at around six months of age in a previously healthy baby. Over a short period of time, the baby stops moving and smiling, becomes paralysed and eventually dies. Most children with TSD die before their fifth birthday. There is no cure.

Buzz words

Cherry red spot

Hypotonia

Developmental regression in infancy

Death 2-5 years

 

421

Gaucher disease

What is it?

What are the key features?

An autosomal recessive disease in which glucocerebroside accumulates in cells and certain organs.

The disorder is characterized by:

  • splenomegaly
  • bone marrow suppression

  • neurological degeneration

  • seizures

Most common in Ashkenazi Jews

422

Niemann-Pick disease

What is it?

How does it typically first present and what are the clinical features?

What is the prognosis?

What is it?

Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. 

Presentation/features

3-4 months feeding difficulties

FTT

Hepatosplenomegaly

Developmental delay

Hypotonia

Deterioration of hearing and vision

Cherry red spot in 50%,

Prognosis

Death by 4 years.

423

Spinal muscular atrophy

What is it?

What are the key clinical features/buzz words?

What is the prognosis

What is it?

Autosomal recessive condition --> degeneration of the anterior horn cells

Second most common neuromuscular disease after Duchenne’s.

There are four types, type 1 being the worst and most common.

Key clinical features

Severe onset in the first months of life

Severe hypotonia â€" “frog-like posture”

Characteristic “bright eyes” â€" reflects normal intellect

Areflexia

Weakness worse in legs than arms

Prognosis

Usually fatal by 2 yo from respiratory failure

424

Charcot-Marie Tooth disease

What is it?

What are the clinical features/buzz words?

What is it?

A genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body.

What are the clinical features?

Symptoms of CMT usually begin in early childhood or early adulthood, but can begin earlier. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance.

Loss of touch sensation in the feet, ankles and legs, as well as in the hands, wrists and arms occur with various types of the disease.

High arched feet (pes cavus) or flat arched feet (pes planus) are classically associated with the disorder.

425

What pathogen causes hand, food and mouth disease?

coxsackie virus A

426

Describe the progression of the Measles rash....

The measles rash starts as spots, which then begin to blend together. The rash begins around the ears and on the forehead at the hairline. Over three days, it spreads sequentially to cover the face, neck, trunk, arms, buttocks, and legs.

427

What are the potential complications of Varicella (chickenpox)?

Chickenpox is generally a benign and self limiting disease but may be associated with complications including:

  • bacterial superinfection (particularly group A beta haemolytic streptococcus and Staph aureus),
  • pneumonia,
  • encephalitis,
  • cerebellitis,
  • hepatitis,
  • arthritis and
  • Reye syndrome.

428

A child has been diagnosed with chickenpox. His mother asks, "is he contagious?" What do you say?

The patient is infectious from one to two days before the onset of the rash until the lesions have fully crusted over.

Children must be excluded from school until fully recovered (all lesions crusted over) or at least one week after the eruption first appears.

429

What is the manaegement of varicella in a child?

In immunocompetent children no specific therapy is indicated.

Symptomatic treatment consists of Calamine lotion, cool compresses, possibly oral  antihistamines at night to improve sleep. Keeping the skin cool may reduce the number of lesions. Scratching increases the risk of secondary bacterial infection - cut the child's nails short at the first sign of the disease.

Avoid aspirin --> Reyes syndrome

Aciclovir is indicated in children with impaired immunity

430

Eosinophillic oesophagitis

What is it? What conditions is it associated with?

What is the classic presentation?

What is the management?

Can you visualise what it looks like on endoscopy?

What is it ?

Eosinophilic oesophagitis is a recently recognised panoesophagitis in children, with diagnosis based on histological evidence of at least 15 eosinophils per high power field on oesophageal biopsies obtained at gastroscopy. 

It is closely associated with food allergy (including IgE and non-IgE mediated) and other atopic conditions such as eczema, allergic rhinitis, asthma or family history of atopy.

Classic presentation

  • Eosinophilic oesophagitis can present at any age with nonspecific gastrointestinal symptoms, including regurgitation, vomiting, food refusal or dysphagia.
  • A classic infancy EO presentation includes irritability, feeding refusal and failure to thrive, which often overlaps with GORD presentation.
  • On the other hand, food bolus impaction is the most common EO presentation in school aged children and adolescents. This presents as dysphagia, or a sensation of choking/food getting stuck (often with meat)

Management

Management of suspected EO requires referral to a gastroentologist for diagnosis by endoscopy. Treatment usually consists of a trial of food allergen elimination (ie. empirically or based on allergy testing â€" with referral to an allergist) or swallowed inhaled corticosteroids.

431

A child presents with constipation. What physical examinations must you perform?

Height and weight â€" failure to thrive

Abdomen - palpable faeces

Spine â€" deep sacral cleft or tuft of hair

Neurology - assessment of lower limbs.

Anal area â€" visually examine for fissures. Internal examination not required.

432

What is the mainstay treatment of idiopathic constipation of childhood?

Mainstay of Tx of are osmotic laxatives --> osmolax.

Very safe. Other option is lactulose with is less good.

433

What is a normal birth LENGTH for a newborn?

50cm

434

What is a normal HEAD CIRCUMFERENCE at birth?

35cm

435

What is a ballbark normal feed volume for a newborn?

150ml/kg

436

What is a normal weight gain for a newborn? What about for premature babies?

30g per day.

For premmies 15-20g/day

437

What is this?

What would you say to parents of a child with this condition to explain what it is?

What is the management?

Plagiocephaly

is the most common craniofacial problem today.

Explain to parents

It is common for a newborn baby to have an unusually shaped head. This can be caused by the position of the baby in the uterus during pregnancy, or can happen during birth. Your baby's head should go back to a normal shape within about six weeks after birth. Sometimes a baby's head does not return to a normal shape and the baby may have developed a flattened spot at the back or side of the head. This condition is known as deformational plagiocephaly.

Plagiocephaly does not affect the development of a baby's brain, but if not treated it may change their physical appearance by causing uneven growth of their face and head.

Management

Many children with deformational plagiocephaly do not need any treatment at all, because the condition can improve naturally as the child grows and begins to sit up. For children where treatment is necessary, it is important to see a specialist (plastic surgeon) between four and eight months of age. This is because the greatest amount of correction will occur before 12 months of age.

Where needed, treatment may involve helmets or correctional positioning.

438

What are the MOST COMMON causes of delayed fontanelle closure?

Vit D deficiency and hypothyroidism

439

How far apart should the eyes be set in an infant?

Eyes should be one eye length apart

440

What colour is bile stained vomit?

Green

441

A boy presents with an inguinal hernia.

Based on their current age, how quickly do they need surgery?

  • Under 6 weeks -> 2 days
  • Under 6 months -> 2 weeks
  • Under 6 years -> 2 months

442

What cardiac anomalies are associated with fetal alcohol syndrome?

ASD, VSD, TOF

443

What cardiac anomaly is associated with Turners?

AS and coarctation

444

What cardiac anomalies are associated with Noonan syndrome?

HOCM, ASD, pulmonary stenosis

445

What are the various classic presentations of Acute Lymphoblastic Leukaemia?

Most common in 2-4 year olds

Clinical presentation usually related to marrow infiltration or occasionally mass effect, certain subtypes more likely to manifest in certain ways, e.g:

BPrecursor ALL: extensive infiltration of marrow and lymphoid organs (bone pain, bleeding, bruising, neutropenia, lymphadenopathy and hepato- splenomegaly)

Mature-B ALL: extramedullary masses in abdomen or head/neck , CNS involvement more common than in other types

T-cell ALL: bulky mediastinal mass,

446

What types of Lymphoma occur in children, and at what ages?

How do they present?

NHL more common in children

NHL is on a continuum with some types of ALL

T-cell malignancies can present as either an ALL or NHL, and mediastinal mass is a common feature to both

Mature B-cell types tend to present more as NHL, with masses in the abdomen, and head/neck region

 

HL more common in adolescent and younger adults

B symptoms are less common

Often a neck / upper body mass, although can occur any

Very good overall survival rates in adolescence, even with disseminated disease

Ann Arbour staging system

447

Describe the structure of the heart (and the pattern of blood flow) in tricuspid atresia...

Tricuspid atresia --> Absence of tricuspid valve AND of functioning RV.

Systemic venous return is therefore shunted from the RA through the FO/ASD into the LA where it mixes with pulmonary venous return, resulting in semi-oxygenated blood output to the Aorta.

If a VSD is present there will be a small hypoplastic RV and blood will enter the pulmonary arteries through this. (This is pictured)

If there is no VSD, the RV will be completely hypoplastic, pulmonary atresia will be present, and the pulmonary arterial circulation will be completely dependant on shunting of blood from the aorta to the pulmonary circulation via the DA.

448

What is the classic presentation and management of SVT in children?

Presentation:

  • Paroxysmal episodes of palpitations
  • Rapid heart rate = poor cardiac output = hypotension which often causes:
    • Chest pain
    • Fatigue
    • Lightheadedness
    • (neonates with these symptoms may just be irritable, poor feeding, drowsy etc â€" difficult to Dx)
  • If SVT is prolonged or left undiagnosed for a long period it may cause CCF

Mx:

Confirm with Holter monitor

Acutely:

  • Assess for haemodynamic compromise, if yes:
    • Chemical cardioversion: adenosine, verapamil
    • DC cardioversion

Long term:

  • Beta-blocker (propranolol - infants, atenolol â€"older) or Flecainide
  • If refractory to medical therapy then consider RF Ablation, relatively dangerous procedure though given most SVT relatively harmless.

449

When can premature babies start breastfeeding?

Extremely premature babies need parenteral nutrition, while less premature need nasogastric until sucking-swallowing coordination developed (@ 36-37 weeks).

Usually add pentavite and Fe supplementation to feed

450

When do you vaccinate premature babies?

Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks)

Future vaccines should not be adjusted for prematurity and given according to chronological age

451

What kinds of fractures set of immediate alarm bells for you for child abuse?

Any fracture in a child

Metaphyseal fractures (more often than not related to abuse)

452

The ED registrar has called you to review a child because they have some suspicious bruises and they are concerned there could be child abuse/neglect. What questions will you ask the parents when you interview them?

CHILD WORD

 

C â€" Caregivers (who are all the people who look after the child)

H â€" Hospital presentations previously?

I â€" Injuries previously?

L â€" Little brothers and sisters?  (Relevant to their safety as well)

D â€" Drug and alcohol use?

 

W â€" Wanted? Was the child planned?

 â€" Crying, is the child often miserable? (can be cause OR effect of abuse)

R â€" Resources, financial and social. How is the family going?

D â€" Depression? Post natal or otherwise poor mental health?

 

Plus a normal paeds history including antenatal, birth, developmental and growth histories.

453

You are paediatric endocrinology and the consultant asks you what you know about congenital adrenal hyperplasia. What do you say?

  • Autosomal recessive condition causing partial or total defect 
of enzymes required for cortisol and aldosterone production
  • Occurs in 1/15,000 live births and is the most common cause of ambiguous genitalia 

  • The salt-wasting form of CAH is a medical emergency - babies can die of vomiting, dehydration and shock at 2-4 wks of age.

 

Etiology

  • 21-hydroxylase deficiency causes 95% of CAH cases; this causes decreased cortisol and aldosterone with shunting toward overproduction of androgens 

  • Cortisol deficiency leads to elevated ACTH, which causes adrenal hyperplasia 


 

Clinical presentation

Depends on the specific deficiency and the cause - may present with shock and hyperkalemia if not suspected. Can be divided into:

 

Salt-Wasting 21-Hydroxylase Deficiency (2/3 of cases)

Infants present with shock, FTT, low Na+, high K+, low Cl, low glucose, adrenal insufficiency, high ACTH, hyperpigmentation of genitals and areola and postnatal virilization 


 

Late-Onset 21-Hydroxylase Deficiency 


Allelic variant of classic 21-hydroxylase deficiency- mild enzymatic defect 


Girls present with amenorrhea 


Boys present with precocious puberty with early adrenarche, dehydration 


 

Simple Virilizing 21-Hydroxylase Deficiency

Virilization in girls but not boys 


 

11-Hydroxylase Deficiency 


Sexual ambiguity in females


May have insidious onset; may present with hirsutism, occasionally hypertension 


 

17-Hydroxylase Deficiency 


Sexual ambiguity in males, hypertension

 

Investigations 


  • Low Na+, high K+, low cortisol, high ACTH if both glucocorticoid and mineralocorticoid deficiency
  • increased serum 17-OH-progesterone (substrate for 21-hydroxylase) 

  • increased testosterone, DHEAS


 

Treatment 


  • glucocorticoid replacement to lower ACTH

  • in salt-wasting type mineralocorticoids given as well

  • spironolactone is used in late-onset 21-hydroxylase deficiency as anti-androgen
  • surgery to correct ambiguous genitalia 


 

454

At what gestational ages would you order a triple test or a quad test?

What is involved in each test at and what gestational ages?

What can each of these tests screen for?

No ultrasound in quad test, just four serum biomarkers.

The quad test is free in Victoria, but less sensitive with a 5% false positive rate.

455

What are the risks to both mum and bubs of twin pregnancies?

Risks to fetuses

  • PROM and Pre-term birth (PTB)
    • PTB is the biggest cause of multi fetal M&M
    • PTB at 24-32 weeks affects:
      • 1% of singletons
      • 5% DC twins
      • 10% MC twins
  • Cord Prolapse
    • Polyhydramnios, PPROM and malpresentation can lead to cord prolapse
  • Antepartum and post partum haemorrhage
  • Congenital malformation
  • Twin-twin transfusion syndrome (TTTS)
    • 10-15% of all monochorionic gestations
    • ​If untreated, severe early-onset TTTS is associated with a perinatal mortality rate of over 90%.

Maternal complications

  • Hyperemesis gravidarum
  • Anemia (greater haemodilution)
    • Iron and folic acid supplementation recommended
  • Gestational Diabetes 
  • Antepartum and post partum hemorrhage
    • Larger placental surface area, uterine over distension,
  • Higher rates of operative birth
  • Postnatal depression
  • Maternal mortality â€" Two fold higher in twin pregnancies.

456

You are called to neonatal code blue. A baby has just been born with no respirations or muscle tone. Describe your actions.

  • Call for senior help/call code
  • Don PPE/gloves
  • History
    • Gestational age
    • mec stained liquour
    • mothers GBS status
    • maternal fever
    • complications in labour?
  • Stimulate the baby for 30 secs, check HR and RR with stethoscope
  • If inadequate resps commence IPPV on room air whilst attaching Spo2 and telemetry
    • PIP (30 cmH2O for a term infant or 20 - 25 cmH2O for a preterm infant), PEEP 5cm
  • If no response after 30 seconds and HR
  • At this stage consider intubation, adrenaline and 10ml/kg normal saline through umblical artery
  • Titrate oxygen to time of life

457

What do you know about Wilm's tumours?

  • Most common in preschool aged children
  • Rapidly growing retroperitoneal tumour
  • Often asymptomatic mass
  • May rupture, bleed and cause pain (20%)
  • Haematuria and HTN occur in some patients. Can cause an aquired vWD.
  • Surgery and chemotherapy achieve 90% cure rates
  • Metastasize very late

458

What do you know about neuroblastoma?

  • Most commonly arises from the adrenal glands
  • Variable biology: may spontaneously regress or be chemo-refratory
  • 75% metastatic disease at diagnosis
  • May infiltrate abdomen, thorax and spine. Lymph nodes and BM are common metastatic sites
  • May have interesting paraneoplastic effects:
    • Opsomyoclonus (dancing eyes, dancing feet syndrome)
    • Excessive catecholamines: flushing, tachycardia, HTN
    • VIP secretion â€" severe refractory diarrhea with FTT and low K+
  • Diagnosis
    • Urinary cathecholamines are raised in 90%
    • Biopsy for tissue diagnosis and risk stratification
    • CT/MRI
    • BMAT
    • MIBG (radioisotope) scan can show areas of cathecholamine synthesis
  • Treatment
    • Surgery for low risk disease. More intensive chemo-/radio- therapy for worse disease.

459

At what point in gestation is hyperglycaemia most dangerous? Why is this?

The first trimester

Fetuses don't make their own insulin until 14 weeks so hyperglycaemia before this is teratogenic

460

A 15-year-old boy presents to a physiotherapist complaining of tenderness near the base of his thumb. He recalls falling during cross country running about 1 week ago.

 

A - Fractured radius

Metaphyseal fractures have a peak incidence during the adolescent growth spurt (girls aged 11-12 years, boys 12-13 years) due to weakening through the metaphysis with rapid growth.

461

What is a buckle's fracture?

Failure of a child's bone in compression results in a "buckle" injury, also known as a "torus" injury. These most commonly occur in the distal metaphysis, where porosity is greatest.

462

What type of fracture does a FOOSH cause in a kid under 10 versus an adult?

In an adult a FOOSH = radial fracture. In a kid FOOSH = suprcondylar fracture

463

What type of childhood cancer is associated with familial adenomatosis polyposis?

Hepatoblastomaa

464

Buzz word diagnosis...?

Ultrasound shows small baby + choroid plexus cysts + ‘rocker bottom feet’ = what syndrome?

[hint: usually hasn’t had screening test]

Edward’s Syndrome (Trisomy 18)

The majority of fetuses with the syndrome die before birth.

465

Ultrasound shows foetus has a cystic hygroma = what syndrome?

Turner’s Syndrome

45XO

 

Cystic hygromas are benign and can happen to anyone, but most common in context of Turner's syndrome

466

Buzzword diagnosis:

Ultrasound shows frontal bossing with head and AC on the 50th centile but all four limbs below the 3rd centile

Achondroplasia

A common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or it may be inherited as an autosomal dominant genetic disorder.

467

A child presents with diarrhoea, short stature, weight loss and eczema. What is the diagnosis and what other symptoms may they have/develop?

Shwachman-Diamond syndrome --> a rare autosomal recessive disorder

Recurrent infection is common due to neutropenia.  Hearing loss may occur secondary to recurrent otitis media.  Symptoms of bone marrow supression  

After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.

468

What is Alagille syndrome and what is it associated with?

Rare genetic condition that causes the bile ducts to be narrow, malformed, and reduced in number (bile duct paucity). This causes jaundice, hepatosplenomegaly.

Also associated with Tetralogy of Fallot, skeletan and eye deformities and a characteristic facial appearance

 

469

What is Beckwith Wiedemann Syndrome and what is it associated with?

An overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

Common features used to define BWS are:
- macroglossia (large tongue),
- macrosomia (above average birth weight and length),
- midline abdominal wall defects (omphalocele/exomphalos, - umbilical hernia, diastasis recti),
- ear creases or ear pits, and
- neonatal hypoglycemia (low blood sugar after birth).

 

Associated with increased risk of cancer, specifically Wilms' tumor (nephroblastoma), pancreatoblastoma and hepatoblastoma

470

What is ataxia telangectasia and what is it associated with?

A rare, neurodegenerative, inherited disease causing severe disability. 

A-T affects many parts of the body:

  • It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination.
  • It weakens the immune system, causing a predisposition to infection.
  • It prevents repair of broken DNA, increasing the risk of cancer.

It is associated with leukaemias and lymphomas

471

What is Peutz-Jeghers syndrome and what is it associated with?

Peutz Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of:

  1. benign hamartomatous polyps in the gastrointestinal tract and
  2. hyperpigmented macules on the lips and oral mucosa 

Associated with cancer!

While the hamartomatous polyps themselves only have a small malignant potential, patients with the syndrome have an increased risk of developing carcinomas of the pancreas, liver, lungs, breast, ovaries, uterus, testicles and other organs.

472

What is the classic clinical picture of Roseola?

What are the complications?

Tends to occur in younger (6-36 months) children with high fevers preceding a sudden rash that begins on the trunk.

The rash can last from a few hours to 3 days

Essentially no worrying complications, conservative management. Can cause febrile convulsions (like any febrile illness) or otitis media.

 

473

What are the symptoms of Rubella?

Rash / exanthem â€" not raised (c.f. measles), often starts on the face in children then spreads down the neck, trunk and extremities

Enanthem â€" Forchheimer’s spots

Lymphadenopathy is common

Constitutional symptoms: conjunctivitis, arthralgia, malaise, fever, coyza

474

A woman insists on drinking alcohol in pregnancy, you have been asked to educate her about fetal alcohol syndrome. What complications/features of FAS do you inform her about?

  1. IUGR
  2. Facial dysmorphisms (see photo)
  3. Global cognitive or intellectual deficits representing multiple domains of deficit
  4. Social problems

475

What is this?

Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

476

What is this?

Aplasia cutis (sometimes called ‘aplasia cutis congenita’) is a condition where a newborn child is missing skin from certain areas.

477

What is this?

Acrodermatitis enteropathica is a rare genetic disorder characterised by diarrhoea, an inflammatory rash around the mouth and/or anus, and hair loss.

Acrodermatitis enteropathica is due to malabsorption of zinc through the intestinal cells.

It is autosomal recessive

478

What is this?

Linear epidermal nevus/Lines of Blaschko

Epidermal naevi are due to an overgrowth of the epidermis. Lesions are present at birth (50%) or develop during childhood (mostly in the first year of life). The abnormality arises from a defect in the ectoderm. This is the outer layer of the embryo that gives rise to epidermis and neural tissue.

479

What is this?

Incontinentia pigmenti --> an dominant X-linked disease

ASSOIATED WITH TEETH, EYE AND CNS PROBLEMS

480

What is this?

Cutis marmorata telangiectatica congenita (CMTC) is a rare, deep purple, marble- or net-like birthmark. It is mostly cosmetic, and while it is present at birth, it fades considerably over a child's first year.

481

What is this?

Ash lead macules --> associated with tuberous sclerosis.

Note the hypopigmented macules, in contrast to vitiligo where there is NO pigmentation

482

What is this?

Congenital melanocytic naevus

proliferations of benign melanocytes (pigment cells) that are present at birth or develop shortly after birth.

 

The risk of melanoma is mainly related to the size of the congenital melanocytic naevus. Small and medium sized congenital melanocytic naevi have a very small risk, well under 1%. Melanoma is more likely to develop in giant congenital naevi (lifetime estimates are 5-10%), particularly in lesions that lie across the spine or where there are multiple satellite lesions.

483

What is this?

What is the management?

Umbilical granuloma

Common condition resulting from low-grade infection of umbilical stump. Presents soon after cord separation as red, friable granulation tissue in region of umbilicus.

The key to treatment is early application of silver nitrate three times daily applied directly onto granulation tissue. Protect surrounding skin with Vaseline.

484

What is this? What is the management?

A sebaceous naevus is an uncommon type of birthmark. Present at birth, it is most often found on the scalp, but sebaceous naevi may also arise on the face, neck or forehead. It consists of overgrown epidermis (upper layers of the skin), sebaceous glands, hair follicles, apocrine glands and connective tissue. It is a type of epidermal naevus and is classified as a benign hair follicle tumour. A sebaceous naevus is also called an organoid naevus because it may include components of the entire skin.

Monitor and refer to derm. Probably no Tx required.

485

This is a 5 day old baby. What is the diagnosis and suggested management?

Congenital dermoid cyst

Common and easily resectable

486

What is this?

What is the prognosis and management?

Haemangioma --> occurs in 10% of babies, come up in first few weeks of life.

It grows grows rapidly in the first 6 months of life and then slows down. It looks like a strawberry, or if they arise deeper in the skin they can look like a blueish lump. 

The vast majority regress completely by age 3, but about 10% may take until age 9-10 to regress.

They can ulcerate and become secondarily infected or bleed.

Because infantile haemangiomas are likely to improve or regress completely with time, there is no need for specific treatment in most cases. Treatment should be considered in the following circumstances.

  • Very large and unsightly lesions
  • Ulcerating haemangiomas (up to 5-25% of lesions)
  • Lesions that impair vision, hearing, breathing or feeding
  • If they fail to resolve by school age

487

What is this? What is it associated with?

Port Wine stain over the ophthalmic and maxillary branches of trigeminal nerve

Associated with Sturge-Weber syndrome --> a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.

Worry about epilepsy, paralysis and ID

Most cases of Sturge-Weber are not life-threatening. The patient's quality of life depends on how well the symptoms (such as seizures) can be prevented or treated.

Patients will need to visit an ophthalmologist at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.

488

You are treating a 7yo child in ED for severe asthma. The nurse assisting you offers to insert an IV line for IV steroids, what do you tell her?

There is no evidence that IV steroids are any more effective than PO steroids for asthma exacerbations.

Their role is just for kids who can’t tolerate PO meds (like if they’re vomiting).

489

When is bronchiolitis most severe?

Bronchiolitis is always worst on day 3, counting day 1 as the first day of respiratory distress (not day 1 of the coryza)

490

What is this USS showing?

The keyhole sign is an ultrasonograhic sign seen in boys with posterior urethral valves. It refers to the appearance of posterior urethra which is dilated, and associated thick walled distended bladder which on ultrasound may resemble a key hole.

491

What are the causes of recurrent UTI in children?

  • Idiopathic
  • Vesicoureteric reflux with or without radiographically evident structural cause
  • Renal tract abnormality, eg: posterior urethral valves
  • Poor hygiene
  • Neurogenic bladder --> incomplete emptying
  • Voiding dysfunction/constipation

492

What investigations would you order for a child with a UTI?

For infants and children aged 6 months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI

 

  • Children
  • Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI. 

If indicated, a DMSA scan 4â€"6 months following the acute infection should be used to detect renal parenchymal defects. This is a nuclear med scan that looks for a renal scar that may have been caused by the UTI.

493

Hydrocephalus

What are the two types/causes in paeds?

What is the key sign in a newborn?

What clinical sign would suggest that ICP is increasing?

What is the mainstay of treatment?

 

Types/causes

Congenital hydrocephalus â€" is present from birth and is associated with other birth defects such as spina bifida and Dandy-Walker syndrome.

Acquired hydrocephalus â€" can be triggered by tumours, infection or bleeding within the brain that blocks the movement or absorption of CSF.

Key signs

of hydrocephalus in a newborn --> increasing head circumference

Sundowning (downward deviation of the eyes) occurs later on in infancy, as fontanelles close its easier for ICP to increase causing neuro Sx. 

Treatment

Mainstay of treatment is therapeutic LP and/or VP shunt

494

What are the three forms of neurofibromatosis?

How are they inherited?

What is the classical presentation of each?

NF1 â€" most common neurocutaneous syndrome

Autosomal dominant â€" chromosome 17, loss of functional NF1 gene, which is a tumour suppressor gene

  • Lots of cutaneous neurofibromas
  • cafe au lait spots (>6)
  • Axillary freckling
  • Lisch nodule in iris

NF2

Autosomal dominant â€" chromosome 22

Bilateral acoustic neuromas (think: NF2 for 2 ears!)

Schwannomatosis
Rare (1 in 40,000)
Similar to NF1/2 but get multiple schwannomas rather than neurofibromas

495

Tuberous Sclerosis

What is it?

How is it diagnosed?

What are the buzz words for clinical presentation?

What are the complications?

What is the management?

What is it?

  • Autosomal dominant condition, 66% of cases due to de novo mutations
  • Occurs in 1 in 5,000 - 10,000 births
  • Disorder is primarily caused by development of benign hamartomas affecting brain, skin, heart, kidneys, eyes, lungs and heart

How is it diagnosed?

  • Diagnosis is made clinically according to criteria (SLE/DSM style)

Buzz words/presentation

  • Ash leaf spots (hypopigmented)
  • Periungal fibromas
  • Shagreen patches
  • Facial angiofibromas
  • Forehead fibrous plaques

 

Complications

  • Epilepsy
    • Infantile spasms are the most common presenting seizure

  • Intellectual disability
  • Autism
  • Risk of invasive malignancy

Management

Symptomatic tx of seizures and ID

MRI every 1-3 years for monitoring for new brain lesions

Surgical treatment of brain lesions only undertaken if they are causing intractable epilepsy, hydrocephalus, haemorrhage, focal neurologic deficits etc.

496

Friedreich ataxia

What is it and how is it inherited?

What is the effect of Friedreich's ataxia on cognition?

 

What are the symptoms and prognosis?

What is it?

Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.

The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.

Symptoms

  • Worsening ataxia
  • Distal leg wasting
  • Absent lower limb reflexes (preserved extensor plantar response)
  • Pes cavus (high arch foot)
  • Dysarthria
  • Impairment of proprioception, vibration sense
  • Often optic atrophy
  • Associated with evolving kyphoscoliosis and cardiomyopathy that can cause cardiorespiratory compromise and death at 40-50 years.
  • No effect on cognition

497

Tay-Sachs disease

What is it?

What is the effect on an infant/child?

What are the buzz words?

What is it?

Tay-Sachs disease (TSD) is an inherited (genetic) condition common in some Ashkenazi Jews and French-Canadians. However, it can affect people of any nationality. A mutated gene stops the body from producing an enzyme needed for proper brain functioning. This leads to paralysis and death, usually before the age of five.

Symptoms/effect

Symptoms first appear at around six months of age in a previously healthy baby. Over a short period of time, the baby stops moving and smiling, becomes paralysed and eventually dies. Most children with TSD die before their fifth birthday. There is no cure.

Buzz words

Cherry red spot

Hypotonia

Developmental regression in infancy

Death 2-5 years

 

498

Gaucher disease

What is it?

What are the key features?

An autosomal recessive disease in which glucocerebroside accumulates in cells and certain organs.

The disorder is characterized by:

  • splenomegaly
  • bone marrow suppression

  • neurological degeneration

  • seizures

Most common in Ashkenazi Jews

499

Niemann-Pick disease

What is it?

How does it typically first present and what are the clinical features?

What is the prognosis?

What is it?

Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. 

Presentation/features

3-4 months feeding difficulties

FTT

Hepatosplenomegaly

Developmental delay

Hypotonia

Deterioration of hearing and vision

Cherry red spot in 50%,

Prognosis

Death by 4 years.

500

Spinal muscular atrophy

What is it?

What are the key clinical features/buzz words?

What is the prognosis

What is it?

Autosomal recessive condition --> degeneration of the anterior horn cells

Second most common neuromuscular disease after Duchenne’s.

There are four types, type 1 being the worst and most common.

Key clinical features

Severe onset in the first months of life

Severe hypotonia â€" “frog-like posture”

Characteristic “bright eyes” â€" reflects normal intellect

Areflexia

Weakness worse in legs than arms

Prognosis

Usually fatal by 2 yo from respiratory failure

501

Charcot-Marie Tooth disease

What is it?

What are the clinical features/buzz words?

What is it?

A genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body.

What are the clinical features?

Symptoms of CMT usually begin in early childhood or early adulthood, but can begin earlier. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance.

Loss of touch sensation in the feet, ankles and legs, as well as in the hands, wrists and arms occur with various types of the disease.

High arched feet (pes cavus) or flat arched feet (pes planus) are classically associated with the disorder.

502

What pathogen causes hand, food and mouth disease?

coxsackie virus A

503

Describe the progression of the Measles rash....

The measles rash starts as spots, which then begin to blend together. The rash begins around the ears and on the forehead at the hairline. Over three days, it spreads sequentially to cover the face, neck, trunk, arms, buttocks, and legs.

504

What are the potential complications of Varicella (chickenpox)?

Chickenpox is generally a benign and self limiting disease but may be associated with complications including:

  • bacterial superinfection (particularly group A beta haemolytic streptococcus and Staph aureus),
  • pneumonia,
  • encephalitis,
  • cerebellitis,
  • hepatitis,
  • arthritis and
  • Reye syndrome.

505

A child has been diagnosed with chickenpox. His mother asks, "is he contagious?" What do you say?

The patient is infectious from one to two days before the onset of the rash until the lesions have fully crusted over.

Children must be excluded from school until fully recovered (all lesions crusted over) or at least one week after the eruption first appears.

506

What is the manaegement of varicella in a child?

In immunocompetent children no specific therapy is indicated.

Symptomatic treatment consists of Calamine lotion, cool compresses, possibly oral  antihistamines at night to improve sleep. Keeping the skin cool may reduce the number of lesions. Scratching increases the risk of secondary bacterial infection - cut the child's nails short at the first sign of the disease.

Avoid aspirin --> Reyes syndrome

Aciclovir is indicated in children with impaired immunity

507

Eosinophillic oesophagitis

What is it? What conditions is it associated with?

What is the classic presentation?

What is the management?

Can you visualise what it looks like on endoscopy?

What is it ?

Eosinophilic oesophagitis is a recently recognised panoesophagitis in children, with diagnosis based on histological evidence of at least 15 eosinophils per high power field on oesophageal biopsies obtained at gastroscopy. 

It is closely associated with food allergy (including IgE and non-IgE mediated) and other atopic conditions such as eczema, allergic rhinitis, asthma or family history of atopy.

Classic presentation

  • Eosinophilic oesophagitis can present at any age with nonspecific gastrointestinal symptoms, including regurgitation, vomiting, food refusal or dysphagia.
  • A classic infancy EO presentation includes irritability, feeding refusal and failure to thrive, which often overlaps with GORD presentation.
  • On the other hand, food bolus impaction is the most common EO presentation in school aged children and adolescents. This presents as dysphagia, or a sensation of choking/food getting stuck (often with meat)

Management

Management of suspected EO requires referral to a gastroentologist for diagnosis by endoscopy. Treatment usually consists of a trial of food allergen elimination (ie. empirically or based on allergy testing â€" with referral to an allergist) or swallowed inhaled corticosteroids.

508

A child presents with constipation. What physical examinations must you perform?

Height and weight â€" failure to thrive

Abdomen - palpable faeces

Spine â€" deep sacral cleft or tuft of hair

Neurology - assessment of lower limbs.

Anal area â€" visually examine for fissures. Internal examination not required.

509

What is the mainstay treatment of idiopathic constipation of childhood?

Mainstay of Tx of are osmotic laxatives --> osmolax.

Very safe. Other option is lactulose with is less good.

510

What is a normal birth LENGTH for a newborn?

50cm

511

What is a normal HEAD CIRCUMFERENCE at birth?

35cm

512

What is a ballbark normal feed volume for a newborn?

150ml/kg

513

What is a normal weight gain for a newborn? What about for premature babies?

30g per day.

For premmies 15-20g/day

514

What is this?

What would you say to parents of a child with this condition to explain what it is?

What is the management?

Plagiocephaly

is the most common craniofacial problem today.

Explain to parents

It is common for a newborn baby to have an unusually shaped head. This can be caused by the position of the baby in the uterus during pregnancy, or can happen during birth. Your baby's head should go back to a normal shape within about six weeks after birth. Sometimes a baby's head does not return to a normal shape and the baby may have developed a flattened spot at the back or side of the head. This condition is known as deformational plagiocephaly.

Plagiocephaly does not affect the development of a baby's brain, but if not treated it may change their physical appearance by causing uneven growth of their face and head.

Management

Many children with deformational plagiocephaly do not need any treatment at all, because the condition can improve naturally as the child grows and begins to sit up. For children where treatment is necessary, it is important to see a specialist (plastic surgeon) between four and eight months of age. This is because the greatest amount of correction will occur before 12 months of age.

Where needed, treatment may involve helmets or correctional positioning.

515

What are the MOST COMMON causes of delayed fontanelle closure?

Vit D deficiency and hypothyroidism

516

How far apart should the eyes be set in an infant?

Eyes should be one eye length apart

517

What colour is bile stained vomit?

Green

518

A boy presents with an inguinal hernia.

Based on their current age, how quickly do they need surgery?

  • Under 6 weeks -> 2 days
  • Under 6 months -> 2 weeks
  • Under 6 years -> 2 months

519

What cardiac anomalies are associated with fetal alcohol syndrome?

ASD, VSD, TOF

520

What cardiac anomaly is associated with Turners?

AS and coarctation

521

What cardiac anomalies are associated with Noonan syndrome?

HOCM, ASD, pulmonary stenosis

522

What are the various classic presentations of Acute Lymphoblastic Leukaemia?

Most common in 2-4 year olds

Clinical presentation usually related to marrow infiltration or occasionally mass effect, certain subtypes more likely to manifest in certain ways, e.g:

BPrecursor ALL: extensive infiltration of marrow and lymphoid organs (bone pain, bleeding, bruising, neutropenia, lymphadenopathy and hepato- splenomegaly)

Mature-B ALL: extramedullary masses in abdomen or head/neck , CNS involvement more common than in other types

T-cell ALL: bulky mediastinal mass,

523

What types of Lymphoma occur in children, and at what ages?

How do they present?

NHL more common in children

NHL is on a continuum with some types of ALL

T-cell malignancies can present as either an ALL or NHL, and mediastinal mass is a common feature to both

Mature B-cell types tend to present more as NHL, with masses in the abdomen, and head/neck region

 

HL more common in adolescent and younger adults

B symptoms are less common

Often a neck / upper body mass, although can occur any

Very good overall survival rates in adolescence, even with disseminated disease

Ann Arbour staging system

524

Describe the structure of the heart (and the pattern of blood flow) in tricuspid atresia...

Tricuspid atresia --> Absence of tricuspid valve AND of functioning RV.

Systemic venous return is therefore shunted from the RA through the FO/ASD into the LA where it mixes with pulmonary venous return, resulting in semi-oxygenated blood output to the Aorta.

If a VSD is present there will be a small hypoplastic RV and blood will enter the pulmonary arteries through this. (This is pictured)

If there is no VSD, the RV will be completely hypoplastic, pulmonary atresia will be present, and the pulmonary arterial circulation will be completely dependant on shunting of blood from the aorta to the pulmonary circulation via the DA.

525

What is the classic presentation and management of SVT in children?

Presentation:

  • Paroxysmal episodes of palpitations
  • Rapid heart rate = poor cardiac output = hypotension which often causes:
    • Chest pain
    • Fatigue
    • Lightheadedness
    • (neonates with these symptoms may just be irritable, poor feeding, drowsy etc â€" difficult to Dx)
  • If SVT is prolonged or left undiagnosed for a long period it may cause CCF

Mx:

Confirm with Holter monitor

Acutely:

  • Assess for haemodynamic compromise, if yes:
    • Chemical cardioversion: adenosine, verapamil
    • DC cardioversion

Long term:

  • Beta-blocker (propranolol - infants, atenolol â€"older) or Flecainide
  • If refractory to medical therapy then consider RF Ablation, relatively dangerous procedure though given most SVT relatively harmless.

526

When can premature babies start breastfeeding?

Extremely premature babies need parenteral nutrition, while less premature need nasogastric until sucking-swallowing coordination developed (@ 36-37 weeks).

Usually add pentavite and Fe supplementation to feed

527

When do you vaccinate premature babies?

Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks)

Future vaccines should not be adjusted for prematurity and given according to chronological age

528

What kinds of fractures set of immediate alarm bells for you for child abuse?

Any fracture in a child

Metaphyseal fractures (more often than not related to abuse)

529

The ED registrar has called you to review a child because they have some suspicious bruises and they are concerned there could be child abuse/neglect. What questions will you ask the parents when you interview them?

CHILD WORD

 

C â€" Caregivers (who are all the people who look after the child)

H â€" Hospital presentations previously?

I â€" Injuries previously?

L â€" Little brothers and sisters?  (Relevant to their safety as well)

D â€" Drug and alcohol use?

 

W â€" Wanted? Was the child planned?

 â€" Crying, is the child often miserable? (can be cause OR effect of abuse)

R â€" Resources, financial and social. How is the family going?

D â€" Depression? Post natal or otherwise poor mental health?

 

Plus a normal paeds history including antenatal, birth, developmental and growth histories.

530

You are paediatric endocrinology and the consultant asks you what you know about congenital adrenal hyperplasia. What do you say?

  • Autosomal recessive condition causing partial or total defect 
of enzymes required for cortisol and aldosterone production
  • Occurs in 1/15,000 live births and is the most common cause of ambiguous genitalia 

  • The salt-wasting form of CAH is a medical emergency - babies can die of vomiting, dehydration and shock at 2-4 wks of age.

 

Etiology

  • 21-hydroxylase deficiency causes 95% of CAH cases; this causes decreased cortisol and aldosterone with shunting toward overproduction of androgens 

  • Cortisol deficiency leads to elevated ACTH, which causes adrenal hyperplasia 


 

Clinical presentation

Depends on the specific deficiency and the cause - may present with shock and hyperkalemia if not suspected. Can be divided into:

 

Salt-Wasting 21-Hydroxylase Deficiency (2/3 of cases)

Infants present with shock, FTT, low Na+, high K+, low Cl, low glucose, adrenal insufficiency, high ACTH, hyperpigmentation of genitals and areola and postnatal virilization 


 

Late-Onset 21-Hydroxylase Deficiency 


Allelic variant of classic 21-hydroxylase deficiency- mild enzymatic defect 


Girls present with amenorrhea 


Boys present with precocious puberty with early adrenarche, dehydration 


 

Simple Virilizing 21-Hydroxylase Deficiency

Virilization in girls but not boys 


 

11-Hydroxylase Deficiency 


Sexual ambiguity in females


May have insidious onset; may present with hirsutism, occasionally hypertension 


 

17-Hydroxylase Deficiency 


Sexual ambiguity in males, hypertension

 

Investigations 


  • Low Na+, high K+, low cortisol, high ACTH if both glucocorticoid and mineralocorticoid deficiency
  • increased serum 17-OH-progesterone (substrate for 21-hydroxylase) 

  • increased testosterone, DHEAS


 

Treatment 


  • glucocorticoid replacement to lower ACTH

  • in salt-wasting type mineralocorticoids given as well

  • spironolactone is used in late-onset 21-hydroxylase deficiency as anti-androgen
  • surgery to correct ambiguous genitalia 


 

531

At what gestational ages would you order a triple test or a quad test?

What is involved in each test at and what gestational ages?

What can each of these tests screen for?

No ultrasound in quad test, just four serum biomarkers.

The quad test is free in Victoria, but less sensitive with a 5% false positive rate.

532

What are the risks to both mum and bubs of twin pregnancies?

Risks to fetuses

  • PROM and Pre-term birth (PTB)
    • PTB is the biggest cause of multi fetal M&M
    • PTB at 24-32 weeks affects:
      • 1% of singletons
      • 5% DC twins
      • 10% MC twins
  • Cord Prolapse
    • Polyhydramnios, PPROM and malpresentation can lead to cord prolapse
  • Antepartum and post partum haemorrhage
  • Congenital malformation
  • Twin-twin transfusion syndrome (TTTS)
    • 10-15% of all monochorionic gestations
    • ​If untreated, severe early-onset TTTS is associated with a perinatal mortality rate of over 90%.

Maternal complications

  • Hyperemesis gravidarum
  • Anemia (greater haemodilution)
    • Iron and folic acid supplementation recommended
  • Gestational Diabetes 
  • Antepartum and post partum hemorrhage
    • Larger placental surface area, uterine over distension,
  • Higher rates of operative birth
  • Postnatal depression
  • Maternal mortality â€" Two fold higher in twin pregnancies.

533

You are called to neonatal code blue. A baby has just been born with no respirations or muscle tone. Describe your actions.

  • Call for senior help/call code
  • Don PPE/gloves
  • History
    • Gestational age
    • mec stained liquour
    • mothers GBS status
    • maternal fever
    • complications in labour?
  • Stimulate the baby for 30 secs, check HR and RR with stethoscope
  • If inadequate resps commence IPPV on room air whilst attaching Spo2 and telemetry
    • PIP (30 cmH2O for a term infant or 20 - 25 cmH2O for a preterm infant), PEEP 5cm
  • If no response after 30 seconds and HR
  • At this stage consider intubation, adrenaline and 10ml/kg normal saline through umblical artery
  • Titrate oxygen to time of life

534

What do you know about Wilm's tumours?

  • Most common in preschool aged children
  • Rapidly growing retroperitoneal tumour
  • Often asymptomatic mass
  • May rupture, bleed and cause pain (20%)
  • Haematuria and HTN occur in some patients. Can cause an aquired vWD.
  • Surgery and chemotherapy achieve 90% cure rates
  • Metastasize very late

535

What do you know about neuroblastoma?

  • Most commonly arises from the adrenal glands
  • Variable biology: may spontaneously regress or be chemo-refratory
  • 75% metastatic disease at diagnosis
  • May infiltrate abdomen, thorax and spine. Lymph nodes and BM are common metastatic sites
  • May have interesting paraneoplastic effects:
    • Opsomyoclonus (dancing eyes, dancing feet syndrome)
    • Excessive catecholamines: flushing, tachycardia, HTN
    • VIP secretion â€" severe refractory diarrhea with FTT and low K+
  • Diagnosis
    • Urinary cathecholamines are raised in 90%
    • Biopsy for tissue diagnosis and risk stratification
    • CT/MRI
    • BMAT
    • MIBG (radioisotope) scan can show areas of cathecholamine synthesis
  • Treatment
    • Surgery for low risk disease. More intensive chemo-/radio- therapy for worse disease.

536

At what point in gestation is hyperglycaemia most dangerous? Why is this?

The first trimester

Fetuses don't make their own insulin until 14 weeks so hyperglycaemia before this is teratogenic

537

A 15-year-old boy presents to a physiotherapist complaining of tenderness near the base of his thumb. He recalls falling during cross country running about 1 week ago.

 

A - Fractured radius

Metaphyseal fractures have a peak incidence during the adolescent growth spurt (girls aged 11-12 years, boys 12-13 years) due to weakening through the metaphysis with rapid growth.

538

What is a buckle's fracture?

Failure of a child's bone in compression results in a "buckle" injury, also known as a "torus" injury. These most commonly occur in the distal metaphysis, where porosity is greatest.

539

What type of fracture does a FOOSH cause in a kid under 10 versus an adult?

In an adult a FOOSH = radial fracture. In a kid FOOSH = suprcondylar fracture

540

What type of childhood cancer is associated with familial adenomatosis polyposis?

Hepatoblastomaa

541

Buzz word diagnosis...?

Ultrasound shows small baby + choroid plexus cysts + ‘rocker bottom feet’ = what syndrome?

[hint: usually hasn’t had screening test]

Edward’s Syndrome (Trisomy 18)

The majority of fetuses with the syndrome die before birth.

542

Ultrasound shows foetus has a cystic hygroma = what syndrome?

Turner’s Syndrome

45XO

 

Cystic hygromas are benign and can happen to anyone, but most common in context of Turner's syndrome

543

Buzzword diagnosis:

Ultrasound shows frontal bossing with head and AC on the 50th centile but all four limbs below the 3rd centile

Achondroplasia

A common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or it may be inherited as an autosomal dominant genetic disorder.

544

A child presents with diarrhoea, short stature, weight loss and eczema. What is the diagnosis and what other symptoms may they have/develop?

Shwachman-Diamond syndrome --> a rare autosomal recessive disorder

Recurrent infection is common due to neutropenia.  Hearing loss may occur secondary to recurrent otitis media.  Symptoms of bone marrow supression  

After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.

545

What is Alagille syndrome and what is it associated with?

Rare genetic condition that causes the bile ducts to be narrow, malformed, and reduced in number (bile duct paucity). This causes jaundice, hepatosplenomegaly.

Also associated with Tetralogy of Fallot, skeletan and eye deformities and a characteristic facial appearance

 

546

What is Beckwith Wiedemann Syndrome and what is it associated with?

An overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

Common features used to define BWS are:
- macroglossia (large tongue),
- macrosomia (above average birth weight and length),
- midline abdominal wall defects (omphalocele/exomphalos, - umbilical hernia, diastasis recti),
- ear creases or ear pits, and
- neonatal hypoglycemia (low blood sugar after birth).

 

Associated with increased risk of cancer, specifically Wilms' tumor (nephroblastoma), pancreatoblastoma and hepatoblastoma

547

What is ataxia telangectasia and what is it associated with?

A rare, neurodegenerative, inherited disease causing severe disability. 

A-T affects many parts of the body:

  • It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination.
  • It weakens the immune system, causing a predisposition to infection.
  • It prevents repair of broken DNA, increasing the risk of cancer.

It is associated with leukaemias and lymphomas

548

What is Peutz-Jeghers syndrome and what is it associated with?

Peutz Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of:

  1. benign hamartomatous polyps in the gastrointestinal tract and
  2. hyperpigmented macules on the lips and oral mucosa 

Associated with cancer!

While the hamartomatous polyps themselves only have a small malignant potential, patients with the syndrome have an increased risk of developing carcinomas of the pancreas, liver, lungs, breast, ovaries, uterus, testicles and other organs.

549

What is the classic clinical picture of Roseola?

What are the complications?

Tends to occur in younger (6-36 months) children with high fevers preceding a sudden rash that begins on the trunk.

The rash can last from a few hours to 3 days

Essentially no worrying complications, conservative management. Can cause febrile convulsions (like any febrile illness) or otitis media.

 

550

What are the symptoms of Rubella?

Rash / exanthem â€" not raised (c.f. measles), often starts on the face in children then spreads down the neck, trunk and extremities

Enanthem â€" Forchheimer’s spots

Lymphadenopathy is common

Constitutional symptoms: conjunctivitis, arthralgia, malaise, fever, coyza

551

A woman insists on drinking alcohol in pregnancy, you have been asked to educate her about fetal alcohol syndrome. What complications/features of FAS do you inform her about?

  1. IUGR
  2. Facial dysmorphisms (see photo)
  3. Global cognitive or intellectual deficits representing multiple domains of deficit
  4. Social problems

552

What is this?

Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

553

What is this?

Aplasia cutis (sometimes called ‘aplasia cutis congenita’) is a condition where a newborn child is missing skin from certain areas.

554

What is this?

Acrodermatitis enteropathica is a rare genetic disorder characterised by diarrhoea, an inflammatory rash around the mouth and/or anus, and hair loss.

Acrodermatitis enteropathica is due to malabsorption of zinc through the intestinal cells.

It is autosomal recessive

555

What is this?

Linear epidermal nevus/Lines of Blaschko

Epidermal naevi are due to an overgrowth of the epidermis. Lesions are present at birth (50%) or develop during childhood (mostly in the first year of life). The abnormality arises from a defect in the ectoderm. This is the outer layer of the embryo that gives rise to epidermis and neural tissue.

556

What is this?

Incontinentia pigmenti --> an dominant X-linked disease

ASSOIATED WITH TEETH, EYE AND CNS PROBLEMS

557

What is this?

Cutis marmorata telangiectatica congenita (CMTC) is a rare, deep purple, marble- or net-like birthmark. It is mostly cosmetic, and while it is present at birth, it fades considerably over a child's first year.

558

What is this?

Ash lead macules --> associated with tuberous sclerosis.

Note the hypopigmented macules, in contrast to vitiligo where there is NO pigmentation

559

What is this?

Congenital melanocytic naevus

proliferations of benign melanocytes (pigment cells) that are present at birth or develop shortly after birth.

 

The risk of melanoma is mainly related to the size of the congenital melanocytic naevus. Small and medium sized congenital melanocytic naevi have a very small risk, well under 1%. Melanoma is more likely to develop in giant congenital naevi (lifetime estimates are 5-10%), particularly in lesions that lie across the spine or where there are multiple satellite lesions.

560

What is this?

What is the management?

Umbilical granuloma

Common condition resulting from low-grade infection of umbilical stump. Presents soon after cord separation as red, friable granulation tissue in region of umbilicus.

The key to treatment is early application of silver nitrate three times daily applied directly onto granulation tissue. Protect surrounding skin with Vaseline.

561

What is this? What is the management?

A sebaceous naevus is an uncommon type of birthmark. Present at birth, it is most often found on the scalp, but sebaceous naevi may also arise on the face, neck or forehead. It consists of overgrown epidermis (upper layers of the skin), sebaceous glands, hair follicles, apocrine glands and connective tissue. It is a type of epidermal naevus and is classified as a benign hair follicle tumour. A sebaceous naevus is also called an organoid naevus because it may include components of the entire skin.

Monitor and refer to derm. Probably no Tx required.

562

This is a 5 day old baby. What is the diagnosis and suggested management?

Congenital dermoid cyst

Common and easily resectable

563

What is this?

What is the prognosis and management?

Haemangioma --> occurs in 10% of babies, come up in first few weeks of life.

It grows grows rapidly in the first 6 months of life and then slows down. It looks like a strawberry, or if they arise deeper in the skin they can look like a blueish lump. 

The vast majority regress completely by age 3, but about 10% may take until age 9-10 to regress.

They can ulcerate and become secondarily infected or bleed.

Because infantile haemangiomas are likely to improve or regress completely with time, there is no need for specific treatment in most cases. Treatment should be considered in the following circumstances.

  • Very large and unsightly lesions
  • Ulcerating haemangiomas (up to 5-25% of lesions)
  • Lesions that impair vision, hearing, breathing or feeding
  • If they fail to resolve by school age

564

What is this? What is it associated with?

Port Wine stain over the ophthalmic and maxillary branches of trigeminal nerve

Associated with Sturge-Weber syndrome --> a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.

Worry about epilepsy, paralysis and ID

Most cases of Sturge-Weber are not life-threatening. The patient's quality of life depends on how well the symptoms (such as seizures) can be prevented or treated.

Patients will need to visit an ophthalmologist at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.

565

You are treating a 7yo child in ED for severe asthma. The nurse assisting you offers to insert an IV line for IV steroids, what do you tell her?

There is no evidence that IV steroids are any more effective than PO steroids for asthma exacerbations.

Their role is just for kids who can’t tolerate PO meds (like if they’re vomiting).

566

When is bronchiolitis most severe?

Bronchiolitis is always worst on day 3, counting day 1 as the first day of respiratory distress (not day 1 of the coryza)

567

What is this USS showing?

The keyhole sign is an ultrasonograhic sign seen in boys with posterior urethral valves. It refers to the appearance of posterior urethra which is dilated, and associated thick walled distended bladder which on ultrasound may resemble a key hole.

568

What are the causes of recurrent UTI in children?

  • Idiopathic
  • Vesicoureteric reflux with or without radiographically evident structural cause
  • Renal tract abnormality, eg: posterior urethral valves
  • Poor hygiene
  • Neurogenic bladder --> incomplete emptying
  • Voiding dysfunction/constipation

569

What investigations would you order for a child with a UTI?

For infants and children aged 6 months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI

 

  • Children
  • Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI. 

If indicated, a DMSA scan 4â€"6 months following the acute infection should be used to detect renal parenchymal defects. This is a nuclear med scan that looks for a renal scar that may have been caused by the UTI.

570

Hydrocephalus

What are the two types/causes in paeds?

What is the key sign in a newborn?

What clinical sign would suggest that ICP is increasing?

What is the mainstay of treatment?

 

Types/causes

Congenital hydrocephalus â€" is present from birth and is associated with other birth defects such as spina bifida and Dandy-Walker syndrome.

Acquired hydrocephalus â€" can be triggered by tumours, infection or bleeding within the brain that blocks the movement or absorption of CSF.

Key signs

of hydrocephalus in a newborn --> increasing head circumference

Sundowning (downward deviation of the eyes) occurs later on in infancy, as fontanelles close its easier for ICP to increase causing neuro Sx. 

Treatment

Mainstay of treatment is therapeutic LP and/or VP shunt

571

What are the three forms of neurofibromatosis?

How are they inherited?

What is the classical presentation of each?

NF1 â€" most common neurocutaneous syndrome

Autosomal dominant â€" chromosome 17, loss of functional NF1 gene, which is a tumour suppressor gene

  • Lots of cutaneous neurofibromas
  • cafe au lait spots (>6)
  • Axillary freckling
  • Lisch nodule in iris

NF2

Autosomal dominant â€" chromosome 22

Bilateral acoustic neuromas (think: NF2 for 2 ears!)

Schwannomatosis
Rare (1 in 40,000)
Similar to NF1/2 but get multiple schwannomas rather than neurofibromas

572

Tuberous Sclerosis

What is it?

How is it diagnosed?

What are the buzz words for clinical presentation?

What are the complications?

What is the management?

What is it?

  • Autosomal dominant condition, 66% of cases due to de novo mutations
  • Occurs in 1 in 5,000 - 10,000 births
  • Disorder is primarily caused by development of benign hamartomas affecting brain, skin, heart, kidneys, eyes, lungs and heart

How is it diagnosed?

  • Diagnosis is made clinically according to criteria (SLE/DSM style)

Buzz words/presentation

  • Ash leaf spots (hypopigmented)
  • Periungal fibromas
  • Shagreen patches
  • Facial angiofibromas
  • Forehead fibrous plaques

 

Complications

  • Epilepsy
    • Infantile spasms are the most common presenting seizure

  • Intellectual disability
  • Autism
  • Risk of invasive malignancy

Management

Symptomatic tx of seizures and ID

MRI every 1-3 years for monitoring for new brain lesions

Surgical treatment of brain lesions only undertaken if they are causing intractable epilepsy, hydrocephalus, haemorrhage, focal neurologic deficits etc.

573

Friedreich ataxia

What is it and how is it inherited?

What is the effect of Friedreich's ataxia on cognition?

 

What are the symptoms and prognosis?

What is it?

Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.

The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.

Symptoms

  • Worsening ataxia
  • Distal leg wasting
  • Absent lower limb reflexes (preserved extensor plantar response)
  • Pes cavus (high arch foot)
  • Dysarthria
  • Impairment of proprioception, vibration sense
  • Often optic atrophy
  • Associated with evolving kyphoscoliosis and cardiomyopathy that can cause cardiorespiratory compromise and death at 40-50 years.
  • No effect on cognition

574

Tay-Sachs disease

What is it?

What is the effect on an infant/child?

What are the buzz words?

What is it?

Tay-Sachs disease (TSD) is an inherited (genetic) condition common in some Ashkenazi Jews and French-Canadians. However, it can affect people of any nationality. A mutated gene stops the body from producing an enzyme needed for proper brain functioning. This leads to paralysis and death, usually before the age of five.

Symptoms/effect

Symptoms first appear at around six months of age in a previously healthy baby. Over a short period of time, the baby stops moving and smiling, becomes paralysed and eventually dies. Most children with TSD die before their fifth birthday. There is no cure.

Buzz words

Cherry red spot

Hypotonia

Developmental regression in infancy

Death 2-5 years

 

575

Gaucher disease

What is it?

What are the key features?

An autosomal recessive disease in which glucocerebroside accumulates in cells and certain organs.

The disorder is characterized by:

  • splenomegaly
  • bone marrow suppression

  • neurological degeneration

  • seizures

Most common in Ashkenazi Jews

576

Niemann-Pick disease

What is it?

How does it typically first present and what are the clinical features?

What is the prognosis?

What is it?

Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. 

Presentation/features

3-4 months feeding difficulties

FTT

Hepatosplenomegaly

Developmental delay

Hypotonia

Deterioration of hearing and vision

Cherry red spot in 50%,

Prognosis

Death by 4 years.

577

Spinal muscular atrophy

What is it?

What are the key clinical features/buzz words?

What is the prognosis

What is it?

Autosomal recessive condition --> degeneration of the anterior horn cells

Second most common neuromuscular disease after Duchenne’s.

There are four types, type 1 being the worst and most common.

Key clinical features

Severe onset in the first months of life

Severe hypotonia â€" “frog-like posture”

Characteristic “bright eyes” â€" reflects normal intellect

Areflexia

Weakness worse in legs than arms

Prognosis

Usually fatal by 2 yo from respiratory failure

578

Charcot-Marie Tooth disease

What is it?

What are the clinical features/buzz words?

What is it?

A genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body.

What are the clinical features?

Symptoms of CMT usually begin in early childhood or early adulthood, but can begin earlier. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance.

Loss of touch sensation in the feet, ankles and legs, as well as in the hands, wrists and arms occur with various types of the disease.

High arched feet (pes cavus) or flat arched feet (pes planus) are classically associated with the disorder.

579

What pathogen causes hand, food and mouth disease?

coxsackie virus A

580

Describe the progression of the Measles rash....

The measles rash starts as spots, which then begin to blend together. The rash begins around the ears and on the forehead at the hairline. Over three days, it spreads sequentially to cover the face, neck, trunk, arms, buttocks, and legs.

581

What are the potential complications of Varicella (chickenpox)?

Chickenpox is generally a benign and self limiting disease but may be associated with complications including:

  • bacterial superinfection (particularly group A beta haemolytic streptococcus and Staph aureus),
  • pneumonia,
  • encephalitis,
  • cerebellitis,
  • hepatitis,
  • arthritis and
  • Reye syndrome.

582

A child has been diagnosed with chickenpox. His mother asks, "is he contagious?" What do you say?

The patient is infectious from one to two days before the onset of the rash until the lesions have fully crusted over.

Children must be excluded from school until fully recovered (all lesions crusted over) or at least one week after the eruption first appears.

583

What is the manaegement of varicella in a child?

In immunocompetent children no specific therapy is indicated.

Symptomatic treatment consists of Calamine lotion, cool compresses, possibly oral  antihistamines at night to improve sleep. Keeping the skin cool may reduce the number of lesions. Scratching increases the risk of secondary bacterial infection - cut the child's nails short at the first sign of the disease.

Avoid aspirin --> Reyes syndrome

Aciclovir is indicated in children with impaired immunity

584

Eosinophillic oesophagitis

What is it? What conditions is it associated with?

What is the classic presentation?

What is the management?

Can you visualise what it looks like on endoscopy?

What is it ?

Eosinophilic oesophagitis is a recently recognised panoesophagitis in children, with diagnosis based on histological evidence of at least 15 eosinophils per high power field on oesophageal biopsies obtained at gastroscopy. 

It is closely associated with food allergy (including IgE and non-IgE mediated) and other atopic conditions such as eczema, allergic rhinitis, asthma or family history of atopy.

Classic presentation

  • Eosinophilic oesophagitis can present at any age with nonspecific gastrointestinal symptoms, including regurgitation, vomiting, food refusal or dysphagia.
  • A classic infancy EO presentation includes irritability, feeding refusal and failure to thrive, which often overlaps with GORD presentation.
  • On the other hand, food bolus impaction is the most common EO presentation in school aged children and adolescents. This presents as dysphagia, or a sensation of choking/food getting stuck (often with meat)

Management

Management of suspected EO requires referral to a gastroentologist for diagnosis by endoscopy. Treatment usually consists of a trial of food allergen elimination (ie. empirically or based on allergy testing â€" with referral to an allergist) or swallowed inhaled corticosteroids.

585

A child presents with constipation. What physical examinations must you perform?

Height and weight â€" failure to thrive

Abdomen - palpable faeces

Spine â€" deep sacral cleft or tuft of hair

Neurology - assessment of lower limbs.

Anal area â€" visually examine for fissures. Internal examination not required.

586

What is the mainstay treatment of idiopathic constipation of childhood?

Mainstay of Tx of are osmotic laxatives --> osmolax.

Very safe. Other option is lactulose with is less good.

587

What is a normal birth LENGTH for a newborn?

50cm

588

What is a normal HEAD CIRCUMFERENCE at birth?

35cm

589

What is a ballbark normal feed volume for a newborn?

150ml/kg

590

What is a normal weight gain for a newborn? What about for premature babies?

30g per day.

For premmies 15-20g/day

591

What is this?

What would you say to parents of a child with this condition to explain what it is?

What is the management?

Plagiocephaly

is the most common craniofacial problem today.

Explain to parents

It is common for a newborn baby to have an unusually shaped head. This can be caused by the position of the baby in the uterus during pregnancy, or can happen during birth. Your baby's head should go back to a normal shape within about six weeks after birth. Sometimes a baby's head does not return to a normal shape and the baby may have developed a flattened spot at the back or side of the head. This condition is known as deformational plagiocephaly.

Plagiocephaly does not affect the development of a baby's brain, but if not treated it may change their physical appearance by causing uneven growth of their face and head.

Management

Many children with deformational plagiocephaly do not need any treatment at all, because the condition can improve naturally as the child grows and begins to sit up. For children where treatment is necessary, it is important to see a specialist (plastic surgeon) between four and eight months of age. This is because the greatest amount of correction will occur before 12 months of age.

Where needed, treatment may involve helmets or correctional positioning.

592

What are the MOST COMMON causes of delayed fontanelle closure?

Vit D deficiency and hypothyroidism

593

How far apart should the eyes be set in an infant?

Eyes should be one eye length apart

594

What colour is bile stained vomit?

Green

595

A boy presents with an inguinal hernia.

Based on their current age, how quickly do they need surgery?

  • Under 6 weeks -> 2 days
  • Under 6 months -> 2 weeks
  • Under 6 years -> 2 months

596

What cardiac anomalies are associated with fetal alcohol syndrome?

ASD, VSD, TOF

597

What cardiac anomaly is associated with Turners?

AS and coarctation

598

What cardiac anomalies are associated with Noonan syndrome?

HOCM, ASD, pulmonary stenosis

599

What are the various classic presentations of Acute Lymphoblastic Leukaemia?

Most common in 2-4 year olds

Clinical presentation usually related to marrow infiltration or occasionally mass effect, certain subtypes more likely to manifest in certain ways, e.g:

BPrecursor ALL: extensive infiltration of marrow and lymphoid organs (bone pain, bleeding, bruising, neutropenia, lymphadenopathy and hepato- splenomegaly)

Mature-B ALL: extramedullary masses in abdomen or head/neck , CNS involvement more common than in other types

T-cell ALL: bulky mediastinal mass,

600

What types of Lymphoma occur in children, and at what ages?

How do they present?

NHL more common in children

NHL is on a continuum with some types of ALL

T-cell malignancies can present as either an ALL or NHL, and mediastinal mass is a common feature to both

Mature B-cell types tend to present more as NHL, with masses in the abdomen, and head/neck region

 

HL more common in adolescent and younger adults

B symptoms are less common

Often a neck / upper body mass, although can occur any

Very good overall survival rates in adolescence, even with disseminated disease

Ann Arbour staging system

601

Describe the structure of the heart (and the pattern of blood flow) in tricuspid atresia...

Tricuspid atresia --> Absence of tricuspid valve AND of functioning RV.

Systemic venous return is therefore shunted from the RA through the FO/ASD into the LA where it mixes with pulmonary venous return, resulting in semi-oxygenated blood output to the Aorta.

If a VSD is present there will be a small hypoplastic RV and blood will enter the pulmonary arteries through this. (This is pictured)

If there is no VSD, the RV will be completely hypoplastic, pulmonary atresia will be present, and the pulmonary arterial circulation will be completely dependant on shunting of blood from the aorta to the pulmonary circulation via the DA.

602

What is the classic presentation and management of SVT in children?

Presentation:

  • Paroxysmal episodes of palpitations
  • Rapid heart rate = poor cardiac output = hypotension which often causes:
    • Chest pain
    • Fatigue
    • Lightheadedness
    • (neonates with these symptoms may just be irritable, poor feeding, drowsy etc â€" difficult to Dx)
  • If SVT is prolonged or left undiagnosed for a long period it may cause CCF

Mx:

Confirm with Holter monitor

Acutely:

  • Assess for haemodynamic compromise, if yes:
    • Chemical cardioversion: adenosine, verapamil
    • DC cardioversion

Long term:

  • Beta-blocker (propranolol - infants, atenolol â€"older) or Flecainide
  • If refractory to medical therapy then consider RF Ablation, relatively dangerous procedure though given most SVT relatively harmless.

603

What virus results in white spots on the oral mucosa?

Measels (Koplik's Spots)

604

What else can a child present with, when they have measels, other than a rash & fever?

Conjunctivitis

605

How does a rash present in rubella?

Starts on the face and spreads cephalocaudadly

606

How and when does a rash present in Roseola infantum?

Starts AFTER the fever (usually lasts for 3 days) and appears on the trunk

607

What is the other word for roseola infantum?

exanthem subitum

608

What microorganism causes roseola infantum?

HHV-6

609

What is another name for infantile spasms

West syndrome

610

How do infantile spasms normally present?

What is their prognosis

Begin in 4 – 12 month year olds

 

sudden drawing up of his legs, flinging out of his arms and hunching of his shoulders and neck


1/20 mortality
Poor prognosis with developmental delay and long term serious epilepsy

- urgent neuro referral
 

611

What is the typical presentation of Wilm's tumor?

Child under 5 yo

Asymptomatic abdominal mass found on routine examination + micrscopic haematuria found on FWT

612

What is the typical presentation of neuroblastoma?

Child

Abdominal mass + paraneoplastic effects

Opsomyoclonus (dancing eyes, dancing feet syndrome)

Excessive catecholamines: flushing, tachycardia, HTN

VIP secretion – severe refractory diarrhea with FTT and low K+
 

613

What is the genotype of turner's syndrome?

45XO

614

when do newborn reflexes go away?

3-9 months (6 months)

615

At what age does a child usually crawl?

9 months

616

At what age does a child usually sit unsupported?

6 months

617

What the menmonic for milestones?

Walking?

(walk @ 1 year, crawls @ 9 months, sits unsupported @ 6 months)

Talking?

(Babble @ 6 months, Mama/Dada @ 9 months, first word @ 12 months)

Pointing?

= joint attention. Wave bye bye?

Holding?

(palmar grasp @ 6 months, pincer grip @ 9 months, immature pencil grip @ 12 months)

618

What is in the infarix hexa?

When is it given?

What is given with it?

Hepatitis B, haemophillus influenza B, Polio

Diptheria, Pertussis, Tetanus

 

Given at 2,4 and 6 months (Hep B also given at birth)

Given with pneumococcal and rotavirus

619

When is the MMR vaccine given

 

12 months

18 months

4 years

 

620

What microorganism causes croup?

parainfluenza virus

621

What microorganism causes bronchiolitis?

RSV

622

What microorganism causes epiglottitis?

Haemophillus influenzae type B

623

What is the management of epiglottitis?

Basics

Avoid interfering with child. O2 via mask if hypoxia.

 

Place and person

ED or ICU admission required stat!

 

Investigate and confirm diagnosis

N/A

 

Non-invasive management

N/A

 

Definitive management

Complete obstruction may occur in just a few hours. In general, nasotracheal intubation under anaesthesia is required. Arrange promptly.

 

Antibiotic therapy: Ceftriaxone 100 mg/kg (max 2 g) i.v. followed by 50 mg/kg (max 2 g) 24 h later.

 

Long term

Treatment of contacts

Rifampicin prophylaxis 20 mg/kg (max. 600 mg) p.o. daily for 4 days.

 

Prevention

HIb vaccination (at 2, 4 or 6 months)

624

post-tussive vomitting is associated with what?

whooping cough (bordatella pertussis)

625

What is the definitive management of perutssis?

What is prophylaxis (for household contacts and in general)?

Definitive management

  • Antibiotics minimize transmission but do not effect course of disease
  • Azithromycin 500 mg 5 days OR
  • Clarithromycin 7 days

Prophylaxis

Same treatment as above for household and other close contacts if commenced within 3 weeks of onset of cough in the patient

 

Acellular pertussis is part of the immunization schedule

Initial protection

2, 4 and 6months

 

Booster

4 years
10-15 years
Parents or household contacts of newborns

626

what is the name of the rash affecting children in the first 3 months of life causing a thick, scaly, yellow rash on their scalp?

seborrheic dermatitis

628

which rash comes on usually after a viral illness, and is in a christmas-tree distribution on the trunk?

pityriasis rosea

629

what is seborrheic dermatitis?

a thick, scaly, yellow rash on a newborn's scalp

631

What investigations are required when you suspect child abuse?

What are you looking for?

"Skeletal Survey" - look for multiple fractures of different ages

CT brain if see retinal haemorrhages

632

At what age is the guetherie / heel prick test performed?

48 - 72 hours old

633

how do you measure head circumference?

From the widest part of the head (occiput)

Take the measurement three times and select the largest measurement to the nearest 0.1cm

634

Describe the anatomy of the paediatric airway in regard to croup.

The narrowest portion of the paediatric airway is at the level of the cricoid / the subglottic space. It is funnel shaped.

 

This was contrasted to the adult airway, where the narrowest portion is the glottis and the airway is described as cylindrical.

635

What are the causes of a wheeze?

Concerning Airway Wall

Constrction

  • Asthma

Compression

  • Mediastinal mass
  • Congenial heart disease eg. causing L-R shunt and causing engorgment of the pulmonary vasculature

Structure

  • Bronchomalacia
  • Tracheomalacia [this would cause stridor]
  • Bronchopulmonary Dysplasia

Concerning Airway Lumen

Pus / Infection

  • Bronchiolitis
  • Viral Induced Wheeze / Asthma
  • Pneumonia
  • Petussis
  • Croup (even though an URTI)

Gunk

  • CF

Other

  • FB

636

What is used for the prevention of bronchiolitis?

Palivzumab – is a monoclonal antibody to RSV given IM monthly. Use is limited by cost and the need for monthly injections - is therefore reserved for high risk infants.

There is no vaccine.

637

RSV is the most common cause of bronchioolitis, what is the most dangerous cause and why?

adenovirus - it causes bronchiolitis obliterans

638

What are some of the complications of bronchiolitis?

Increased WOB --> poor feeding

Reduced SpO2

Bronchiolitis obliterans (adenovirus)

Hyponatraemia (SIADH)

639

What Ix are required for bronchiolitis?

None - it is a clinical diagnosis.

But an NPA can be taken for infection control and epidemiology purposes.

640

What (in addition to other signs of severity) is a unique sign of severity of bronchiolitis?

What are the general signs of severity of respiratory illness?

Apnoeic episodes

Also: RR, SpO2, HR

WOB

Neurological status

641

What is the most common cause of finger clubbing in children?

CF

642

643

What is a seizure versus epilepsy?

If a child with cerebral palsy has seizures, is this epilepsy?

Seizure = known trigger

Epilepsy >1 seizure both with unknown triggers / are unprovoked.

 

Yes. Even though the triggers are not of "unknown" cause the child would often be said to have “epilepsy” because at baseline they have chronic, recurrent seizures without any acute precipitants.

644

How do you conceptualise seizures in a child?

And what are the types of childhood seizures to know?

  1. Was it provoked?
    • Fever / Dravet Syndrome
    • Meningitis
    • Syncope
    • Breath Holding
    • Hypoglycaemia
  2. Was it unprovoked? = EPILEPSY
    • Generalised
      • West syndrome / infantile spasms
      • Juvenile myoclonic epilepsy
    • Absence
      • Childhood absence seizures
      • Juvenile absence seizures
    • Partial
      • Temporal lobe epilepsy
      • Benign focal epilepsy of childhood (Rolandic)

645

What are the differential diagnoses for sudden collapse?

And how might you rule in/out these conditions on history?

SSS-VVV

Seizure

  • Did anyone witness stiffening or jerking?
  • Tongue biting or blood in the mouth?
  • Urinary/faecal incontinence?
  • Postictal state?
  • Triggers?

Syncope

  • Chest pain or palpitations prior to collapse?
  • Rapid recovery?

Sugar (hypoglycaemia)

  • Diabetic?
  • Food / drink?

VBI

  • Older patient with atherosclerotic disease
  • Brought on by head turning?

Vestibular

  • Vertigo - room spinning?
  • Change with position?

Vasovagal

  • Fear or stress beforehand?

646

How does West Syndrome / Infantile Spasms present and in what age?

What is the outcome?

4-12 months old

Sudden drawing up of the legs, hunching forward of the neck and shoulders, and flinging out of the arms.

Poor prognosis 1/20 mortality.

Severe developmental delay.

647

"An 8 month old shows sudden drawing up of the legs, hunching forward of the neck and shoulders, and flinging out of the arms."

What condition?

West syndrome / infantile spasms

648

How does juvenille myoclonic epilepsy present?

At what age?

Begins in teenage years

generalized tonic–clonic seizures, early morning myoclonic jerks, and sometimes absence seizures.

Usually occurs in the morning when waking from sleep or from a nap.

649

A 12 year old presents with myoclonic jerks upon awakening in the morning. This has happened for the past year.

What is the diagnosis?

Juvenile Myoclonic Epilepsy

650

How does benign focal epilepsy of childhood present and when?

What is it's prognosis?

What is the theory as to how this occurs?

Usually presents

think mouth

Tingling or twitching of the mouth and preserved consciousness, often with associated drooling, choking noises and inability to speak.

Tends to resolve in the teens, excellent prognosis.

The theory is that this is "growing pains" of the brain

651

A 6 year old presents with twitching of the mouth and drooling, choking noises making her unable to speak.

What is her diagnosis?

Benign Focal Epilepsy of Childhood / Rolandic Epilepsy / with centrotemporal spikes

652

What is the other names for benign focal epilepsy of childhood (or strictly, the TYPE which is listed on Monash MCQ)?

Rolandic

/ with centrotemporal spikes

653

How does temporal lobe epilepsy present?

Aura =

  • fear, unusual smells or tastes, abdominal discomfort and dizzy or dreamy states

Siezure (looks like absence) =

  • motionless staring, fearful or bewildered facial expression, unresponsiveness and automatisms
but can also have autonomic symptoms such as facial flushing or pallor, salivation and sometimes vomiting.

654

A 4-year-old girl presents because her mother has noticed that she has increasing abdominal distension and teachers have noticed that she has small pauses in her activity or talking. The events come on without warning, last for 1-3 seconds and are associated with
some subtle lip-smacking.

What is this?

Temporal lobe epilepsy?

655

What are the causes of provoked seizures in a child?

FUCKS

Fever (Febrile Convulsions)

Unwell (Menigitis)

Cardiac (Syncope)

Knocked, fallen, fright (Breath Holding Attacks)

Sugar (hypoglycaemia due to T1DM or inborn error of metabolism)

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How does a Breath Holding Attack Present and at what age?

1-2 years

Precipitated by either physical trauma, such as a knock or a fall, fright, anger or frustration.

Attacks usually commence with crying, but this may be brief or absent.

Apnoea then occurs with cyanosis or pallor.

Sometimes associated with Fe defficiency!

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An 18month old falls over, starts to cry and then pauses. He turns blue and then has a "funny turn". What is the diagnosis?

Breath holding attack

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What are the diagnostic criteria of a febrile convulsion?

A seizure in the conext of:

  • Fever >38 degrees [before, during OR after the seizure]
  • No evidence of CNS infection
  • No history of afebrile seizures
  • No history of neurological deficits or developmental delay

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What are the types of febrile convulsion?

Simple vs Complex

Simple

  • Generalised tonic or tonic/clonic seizure
  • Do not recurr within the same febrile illness

Comples

  • Focal seizure
  • >15 minutes + incomplete recovery after one hour
  • Occur within the same febrile illness, OR

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If a child with known epilepsy has a seizure triggered by a fever, is this a febrile convulsion?

No

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What is the epidemiology of febrile seizures?

Febrile seizures occur in 3% of the population.

Most commonly in children 6 months to 6 years of age.

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How might you tell, clinically, if the seizure is focal or generalised?

If their eyes deviate to one side = focal

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What investigations would you do for a suspected febrile convulsion if the source of the fever was unknown, or if the child was

Bedside Tests

  • BGL
  • Urine dipstick

Labratory Tests

  • Urine MC&S
  • FBE, CRP, ESR
  • Blood culture
  • UEC + CMP

Imaging

  • CXR (if respiratory symptoms)

Invasive Tests

  • LP

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What investigations would you perform if you suspected febrile convulsions, knew the source of the fever and the child was >12 months old?