Paediatrics 1 Flashcards

Respiratory Cardiology Psychiatry Rheumatology & Orthopaedics ENT Genetics Neurology Renal & Urinary

1
Q

Epidemiology + risk factors for development of bronchiolitis

A

< 2 years
Winter

Prematurity
Passive smoking
Underlying disorders: CLD, CHD

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2
Q

Diagnostic investigation for bronchiolitis

A

NPA PCR

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3
Q

Bronchiolitis presentation

A

Noisy breathing
Cough
Crackles and wheeze
Coryzal

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4
Q

Bronchiolitis causative organisms

A

RSV
Rhinovirus, influenza, adenovirus, parainfluenza

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5
Q

Part of respiratory tract affected by bronchiolitis

A

LRTI

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6
Q

Xray findings severe bronchiolitis

A

Hyperinflation of lungs - flattened diaphragm
Horizontal ribs

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7
Q

Bronchiolitis management in hospital

A

Respiratory support:
High flow oxygen therapy
CPAP – HDU admission
Intubation and ventilation – PICU admission

Feeding support:
Small volume frequent sips
NG tube – bolus feeds or continuous feeds
IV fluids

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8
Q

Severe adenovirus infection causing bronchiolitis complication

A

Bronchiolitis obliterans

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9
Q

Bronchiolitis chest auscultation

A

Fine end-inspiratory crackles
Prolonged expiration

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10
Q

Indication for bronchiolitis prophylaxis

A

Immunocompromised
Pavalizumab

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11
Q

Causative organism of bronchiolitis obliterans

A

Adenovirus

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12
Q

Metabolic abnormality seen in bronchiolitis

A

Hyponatraemia

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13
Q

Prompts for bronchiolitis referral to hospital

A

Apnoea (observed or reported)
Child looks seriously unwell
Severe respiratory distress e.g. grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute
Central cyanosis
Reduced oral intake by 50-75%

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14
Q

Laryngotracheobronchitis

A

Croup

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15
Q

Croup clinical manifestations

A

Inspiratory stridor
Barking cough worse at night
Coryzal symptoms
Fever

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16
Q

Croup management

A

Oral dexamethasone
Nebulised adrenaline
Oxygenation

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17
Q

Croup Xray findings

A

Steeple sign - subglottic narrowing

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18
Q

Croup admission indications

A

Audible stridor at rest
< 6 months
Upper airway abnormality known
Severe croup
Uncertain diagnosis

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19
Q

Croup bronchoscopy indications

A

Recurrent croup - 5/6x a year

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20
Q

Croup epidemiology

A

Autumn
6 months - 6 years

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21
Q

Causative organism of epiglottitis

A

HiB

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22
Q

3 key symptoms indicating epiglottitis

A

Drooling
Tripod position
Cyanosis
Absence of cough

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23
Q

Epiglottitis initial management + antibiotics used

A

Avoid examination
Call anaesthetics

IV antibiotics: e.g. ceftriaxone

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24
Q

Antibiotic prophylaxis for epiglotittis

A

Rifampicin

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25
Q

Pneumonia: most common causative organism

A

Strep pneumoniae

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26
Q

Diagnostic criteria of pneumonia < 3 years old

A

> 39C (38C if < 3 months)
Chest recession
RR > 50

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27
Q

Monophonic wheeze indications

A

Inhaled foreign body

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28
Q

Aspiration pneumonia - most likely area of consolidation?

A

Right lower lobe of lung

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29
Q

Acute asthma management

A

Oxygen if O2 <92%
Salbutamol (inhaler/nebulised) +/- Ipratropium (nebulised)
Steroids (pred 3 days / dex 1 day)

Escalating:
MgSO4 nebulised
Salbutamol IV
Amino/theophylline
MgSO4 IV
Hydrocortisone IV

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30
Q

Viral induced wheeze management

A

Same as acute asthma management

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31
Q

Cystic fibrosis epidemiology: carriers + no of births

A

1 in 25 are carriers
So 1 in 2500 infants have CF

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32
Q

CF pathophysiology

A

Cl- transport affected – water unable to follow by facilitated diffusion

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33
Q

CF gene mutation

A

Delta F508 on chromosome 7 - encodes CFTR protein

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34
Q

Most common causative organism of infections in CF

A

Pseudomonas aeruginosa

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35
Q

3 potential investigations for CF - which is gold standard?

A

Heel prick

Best: Sweat test / Genetic test - CFTR gene

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36
Q

CF features infancy

A

Meconium ileus
Prolonged jaundice
Failure to thrive
Recurrent chest infections
Malabsorption

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37
Q

CF features young child

A

Bronchiectasis
Rectal prolapse
Nasal polyps
Sinusitis

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38
Q

CF features adolescence

A

Diabetes mellitus
Infertility in males
Pneumothorax or recurrent haemoptysis
Distal intestinal obstruction

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39
Q

CF - IRT

A

Immunoreactive trypsinogen
Raised in heel prick test

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40
Q

CF contraindication for lung transplant

A

Chronic infection with Burkholderia cepacia

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41
Q

Vitamin deficiencies in CF

A

A, D, E, K
Fat soluble, deficiency in pancreatic enzymes

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42
Q

Lumacaftor/Ivacaftor

A

Used in CF
Increases CFTR proteins transported to cell surface

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43
Q

False positive causes of sweat test for CF

A

Skin oedema
Malnutrition
Adrenal insufficiency
G6PD
Nephrogenic diabetes insipidus

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44
Q

Chronic infection in CF causative organisms

A

S aureus
Pseudomonas aeruginosa
Aspergillus

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45
Q

CF diet recommendation

A

High calorie, high fat
Vitamin supplementation
Replacement pancreatic enzymes: CREON

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46
Q

PDA treatment

A

Ibuprofen/indomethacin - inhibits prostaglandin synthesis

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47
Q

PDA murmur

A

Continuous machinery murmur

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48
Q

PDA examination findings

A

Left subclavicular thrill
Active precordium
Wide pulse pressure
Heaving apex beat
Large volume, bounding, collapsing pulse
Continuous machinery murmur

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49
Q

Medication to keep PDA patent

A

Prostaglandin E1

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50
Q

Mechanism by which PDA usually closes at birth

A

Usually closes within first few breaths – due to increased pulmonary flow which enhances prostaglandin clearance

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51
Q

Ventricular septal defect murmur

A

Pansystolic murmur at lower left sternal edge

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52
Q

Pathophysiology of pulmonary hypertension in ventricular septal defect

A

Blood flows from left to right ventricle - increased blood volume so lungs work harder

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53
Q

Pathophysiology of R-L shunt in ventricular septal defect

A

Increased volume of right side of heart due to initial L-R shunt leads to increased pressure so blood flows down pressure gradient

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54
Q

Ventricular septal defect Xray findings

A

Cardiomegaly
Pulmonary oedema
Enlarged pulmonary arteries

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55
Q

Most common congenital heart defect

A

VSD 35%

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56
Q

Ventricular septal defect: other conditions associated

A

Trisomy 13, 18 and 21
Foetal alcohol syndrome
Intrauterine infections

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57
Q

Eisenmenger’s syndrome

A

R-L shunt

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58
Q

Pathophysiology of atrial septal defect - foramen ovale formation

A

Septum primum forms, it grows and ostium primum closes

Another opening forms – ostium secundum, and septum secundum forms

It develops opening – foramen ovale

Valve created for blood flow

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59
Q

Atrial septal defect: 2 variants + their associations

A

Ostium secundum failure to close - 90%
Holt-Oram syndrome

Ostium primum failure to close - 10%
25% of Down’s
Present earlier
Associated with abnormal valves

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60
Q

Atrial septal defect murmur

A

Ejection systolic murmur - upper left sternal edge, radiates to back

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61
Q

Atrial septal defect heart sounds

A

Fixed split S2

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62
Q

Atrial septal defect ECG findings

A

Ostium secundum - RBBB with RAD
Ostium primum - RBBB with LAD

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63
Q

Most common cause of cyanosis in newborn

A

Tetralogy of fallot

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64
Q

Tetralogy of fallot murmur

A

Ejection systolic

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65
Q

4 defects seen in tetralogy of fallot

A

Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy
Ventricular septal defect

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66
Q

DiGeorge syndrome cardiovascular malformation association

A

Tetralogy of Fallot

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67
Q

Which defect in tetralogy of fallot is the primary determinant of the severity of symptoms?

A

Pulmonary stenosis

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68
Q

Tetralogy of fallot murmur

A

Ejection systolic at the left upper sternal border due to pulmonic stenosis
and/or
Holosystolic murmur at the left mid sternal border due to VSD

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69
Q

Tetralogy of fallot Xray findings

A

Boot shaped heart
Absence of thymic shadow

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70
Q

Tetralogy of fallot risk factors

A

Diabetic mother
Increased maternal age
Rubella
DiGeorge syndrome

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71
Q

Pathophysiology of tet spells

A

Worsened R to L shunt

Due to increase in pulmonary vascular resistance
Or
Decrease in systemic resistance
E.g. exertion, CO2 is a vasodilator so systemic vasodilation occurs

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72
Q

Management of tet spells

A

Acutely:
Lie baby on back and bend knees

O2
Beta blockers - relax right ventricle, improve flow to pulmonary vessels
IV fluids - increase preload
Morphine - decrease resp drive
Sodium bicarbonate - for metabolic acidosis
Phenylephrine infusion

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73
Q

Tetralogy of fallot management and prognosis

A

Surgical correction
Surgery has 5% mortality rate

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74
Q

2 cyanotic heart conditions

A

Transposition of great arteries
Tetralogy of fallot

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75
Q

TGA risk factors

A

T1DM and T2DM mother

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76
Q

TGA pathophysiology

A

Failure of aorticopulmonary septum to spiral during septation

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77
Q

TGA heart sounds + examination findings

A

Loud single S2
Promiment right ventricular impulse

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78
Q

TGA echocardiogram findings

A

Parallel aorta and pulmonary trunk

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79
Q

TGA Xray findings

A

Egg on side appearance

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80
Q

TGA management

A

Prostaglandin E1 to maintain PDA
Surgical correction

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81
Q

What is ebstein’s anomaly?

A

Tricuspid valves have a lower insertion than normal
Leads to right atrial enlargement and ventricle being smaller (atrialisation of ventricle)

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82
Q

Ebstein’s anomaly risk factor

A

Lithium exposure in utero

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83
Q

ECG findings in Ebstein’s anomaly

A

Arrhythmias
Right atrial enlargement
RBBB
Left axis deviation

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84
Q

CXR findings in Ebstein’s anomaly

A

Low insertion of tricuspid valve with right atrial enlargement
Cardiomegaly

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85
Q

Best diagnostic investigation for Ebstein’s anomaly

A

Echocardiogram
Also for assessing severity

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86
Q

Ebstein’s anomaly other associated conditions

A

Wolff-Parkinson White syndrome
Patent foramen ovale or ASD in 80%

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87
Q

Coarctation of aorta clinical manifestations

A

Weak femoral pulses
Radio-femoral delay
Subclavicular midsystolic murmur

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88
Q

Management of weak femoral pulses

A

Same day discussion with paediatrics

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89
Q

Coarctation of aorta other conditions associated

A

Turner syndrome
Berry aneurysms
Neurofibromatosis

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90
Q

4 features of an innocent murmur

A

Systolic
Soft
Short
Varies with posture

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91
Q

Rheumatic fever causative organism

A

Beta haemolytic group A strep

Most commonly strep pyogenes

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92
Q

Rheumatic fever investigations

A

Throat swab
ASO antibody titres
Echo, CXR, ECG

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93
Q

Rheumatic fever pathophysiology

A

Type 2 hypersensitivity reaction after infection - usually tonsillitis

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94
Q

Rheumatic fever management

A

Penicillin V 10 days
+ prophylactic into adulthood

NSAIDs for joint pain
Aspirin and steroids for carditis

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95
Q

Rheumatic fever diagnostic criteria

A

JONES Criteria

2 major or 1 major + 2 minor

JONES:
Joint arthritis
Organ inflammation
Nodules
Erythema marginatum rash
Sydenham chorea

FEAR:
Fever
ECG
Arthralgia w/o arthritis
Faised inflammatory markers

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96
Q

Rheumatic fever complications

A

Recurrence
Valvular heart disease
Chronic heart failure

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97
Q

Rheumatic fever most likely valvular disease

A

Mitral stenosis

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98
Q

ADHD 3 core behaviour problems

A

Hyperactivity
Impulsivity
Inattention

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99
Q

Pharmacological management of ADHD

A

1st: Methyphenidate
2nd: Lisdexamfetamine, atomofexetine

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100
Q

2 side effects of methyphenidate (Ritalin)

A

Weight loss
Stunted growth

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101
Q

Monitoring in ADHD

A

Growth
Height every 6m
Weight every 3m if < 10
Or
Every 6m if > 10 (except 3 months after starting treatment)

Measure BP and HR before and after every dose change + every 6 months

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102
Q

Which area of the brain shows reduced function in ADHD

A

Frontal lobe

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103
Q

Perthe’s disease pathophysiology

A

Avascular necrosis of the femoral head

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104
Q

Perthe’s disease epidemiology

A

5M:F
Primary school age
10-15% cases are bilateral

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105
Q

Perthe’s disease risk factors

A

Social deprivation
Passive smoking

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106
Q

Perthe’s disease presentation acutely + late

A

Limb + limited motion
Referred pain in thigh/knee
Pain improves with rest

Late:
Leg shortening

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107
Q

Perthe’s disease investigations

A

Xray frog leg - repeated through treatment
2nd line: MRI

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108
Q

Perthe’s disease management

A

If < 6, observation only
Contain hip: plasters/brace etc.
Surgery

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109
Q

Perthe’s disease stages

A

Initial necrosis
Fragmentation
Reossification
Healed

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110
Q

Kocker’s criteria

A

3/4 for septic arthritis
T > 38.5
ESR > 40
WCC > 12
Cannot weight bear

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111
Q

Limp indications for assessment

A

Urgent assessment if:
<3 with acute limp
Or
< 3 with temp >38C

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112
Q

What is DDH?

A

Abnormal relationship between femoral head and acetabulum

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113
Q

DDH screening test

A

Barlow - dislocatable
Ortolani - reducible

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114
Q

DDH risk factors

A

Female
First born
Feet first (breech)
First degree family history
Fluid (oligohydramnios)
Fat (macrosomia)

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Perfectly
115
Q

DDH epidemiology

A

8F:M
Left hip more common

116
Q

DDH investigations

A

NIPE screening
Ultrasound at 6 weeks
Xray if > 4.5 months
Galeazzi test

117
Q

DDH management

A

Pavlik harness
Surgical reduction

118
Q

DDH: indications for 6 week ultrasound

A

Breech
Multiple pregnancy
1st degree relative

119
Q

Transient synovitis pathophysiology

A

Post viral infection, inflammation of joint

120
Q

Rickets pathophysiology

A

Vitamin D deficiency leading to failure to mineralise new bone

121
Q

3 causes of vitamin D deficiency leading to rickets

A

Maternal vitamin D deficiency
Lack of sunlight exposure
Lack of vitamin D in diet

122
Q

Rickets Xray findings

A

Cupping and splaying
Bowed femurs
Widened epiphyseal plates

123
Q

Rickets clinical manifestations

A

Limb deformity - bowed legs
Limping
Rachitic rosary
Widening of joints
Metaphyseal swelling
Hypotonia
Fractures
Motor delay

124
Q

SUFE epidemiology

A

Obese male
Secondary school age

125
Q

SUFE % bilateral cases

A

20%

126
Q

SUFE pathophysiology

A

Femoral head slips through zone of hypertrophy of epiphyseal cartilage

127
Q

SUFE clinical manifestations

A

Loss of internal rotation
Waddling gait
Vague thigh/groin pain

128
Q

SUFE investigations + findings

A

AP and lateral views of both legs - Xray
- Widened growth plate, short displaced epiphysis

129
Q

SUFE management

A

Surgical pinning on hip - internal fixation

130
Q

Muscular dystrophy mode of inheritance

A

X-linked recessive

131
Q

Muscular dystrophy aetiology

A

Mutation of gene encoding dystrophin on Xp21

132
Q

Duchenne muscular dystrophy features

A

Calf pseudohypertrophy
Progressive muscle weakness from 5y >
Gower sign

133
Q

Duchenne muscular dystrophy investigations

A

Genetic testing is gold standard

Raised CK and proximal muscle biopsy can also be done

134
Q

Difference in gene mutation between Duchenne and Becker dystrophy

A

Duchenne: frameshift mutation
Becker: Non-frameshift mutation

135
Q

JIA types

A

Oligoarticular
Polyarticular
Psoriatic
Enthesitis related
Systemic onset (Still’s disease)

136
Q

Macrophage activation syndrome

A

Associated with systemic onset JIA (Still’s disease)

DIC, anaemia, thrombocytopenia, non-blanching rash
LOW ESR!

137
Q

Oligoarticular JIA features + antibodies + management

A

< 4 joints affected
Asymmetrical
Anterior uveitis
Large joints

ANA +ve
RF -ve

Steroid joint injections

138
Q

Polyarticular JIA features

A

> 4 joints affected
Symmetrical
Small joints

139
Q

Psoriatic JIA

A

Salmon-pink rash
Nail pitting
Onycholysis
Dactylitis
Enthesitis

140
Q

Still’s disease

A

Fever > 5 days
Joint pain
Salmon-pink rash

141
Q

JIA management options

A

1 NSAIDs
2 Methotrexate
3 Systemic steroids

Steroid joint injections 1st line for oligoarticular

142
Q

3 non-infective differentials for child with fever > 5 days

A

Still’s disease
Kawasaki disease
Rheumatic fever
Leukaemia

143
Q

Osteogenesis imperfecta mode of inheritance

A

Autosomal dominant

144
Q

Osteogenesis imperfecta pathophysiology

A

Defect in type 1 collagen due to COL1A1 or COL1A2 gene mutation

145
Q

Osteogenesis imperfecta features

A

Bone fragility and deformity - rickets, scoliosis
Recurrent fractures
Blue/grey sclera
Hypermobility
Deafness
Hernias
Valve prolapse

146
Q

Osteogenesis imperfecta management

A

Bisphosphonate therapy
Vitamin D supplementation

147
Q

Management of unexplained bone pain or swelling

A

Urgent 48 hour Xray
Specialist Xray within 48 hours if Xray has suggestive signs

148
Q

Osteosarcoma Xray findings

A

Sunburst appearance
Fluffy
New bony growth and periosteal reaction

149
Q

Most common primary malignancy of bone in children

A

Osteosarcoma

150
Q

Ewing’s sarcoma presentation

A

Usually metastatic
Infection, fever

151
Q

Ewing’s sarcoma Xray findings

A

Diaphysis of long bones
Lamellated periosteal reaction (onion skinning)

152
Q

Ewing’s sarcoma MRI findings

A

Necrosis

153
Q

Ewing’s sarcoma appearance on histology

A

Small, blue, round cells with clear cytoplasm

154
Q

Chondromalacia patellae

A

Softening of cartilage of patella
Teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy

155
Q

Osgood-Schlatter disease

A

Sporty teenagers
Pain, tenderness and swelling over the tibial tubercle

AKA tibial apophysitis

156
Q

Osteochondritis dissecans

A

Pain after exercise
Intermittent swelling and locking

157
Q

Patellar subluxation

A

Medial knee pain due to lateral subluxation of patella
Knee may give way

158
Q

Patellar tendonitis

A

Athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination

159
Q

Otitis media appearance on otoscopy

A

Bulging tympanic membrane
Loss of light reflex

160
Q

Acute suppurative otitis media appearance on otoscopy

A

Mucopurulent discharge

161
Q

Otitis media with effusion appearance on otoscopy

A

Grey tympanic membrane
Loss of light reflex
Visible fluid behind tympanic membrane

162
Q

Otitis media: criteria for ENT referral

A

> 6 episodes in 1 year
Persistent OM with effusion > 3 months bilaterally OR > 6 months unilaterally

163
Q

Otitis media: indications for antibiotics

A

Symptoms ≥ 4 days
Systemically unwell
Immunocompromise
<2 years old with bilateral otitis media
AOM with perforation or discharge

164
Q

Otitis media: which antibiotics are used?

A

1st: Amoxicillin
2nd: Clarithromycin

165
Q

Otitis media complications

A

Mastoiditis
Tympanic membrane perforation

Meningitis
Abscess

166
Q

Glue ear

A

Otitis media with effusion

167
Q

Grommet mechanism

A

Keeps middle ear aerated and prevents fluid accumulation

168
Q

Risk factors for otitis media + effusion

A

Older sibling
Male
Nursery attendance
Parental smoking
Allergies

169
Q

Mastoiditis management

A

IV antibiotics

170
Q

Newborn Hearing Screening Programme + 2nd line

A

Otoacoustic emission test
Auditory Brainstem Response test

171
Q

School entry hearing test

A

Pure tone audiometry

172
Q

Centor criteria

A

Likelihood of strep infection in tonsillitis

Tonsillar exudate
Cervical lymphadenopathy
Fever > 38
Abscence of cough

3/4

173
Q

FeverPAIN score

A

Likelihood of strep infection

Fever over 38°C.
Purulence (pharyngeal/tonsillar exudate)
Attend rapidly (3 days or less)
Severely Inflamed tonsils
No cough or coryza

4/5 to give Abx

174
Q

Tonsillitis most common causative organisms

A

Group A Strep
E.g. Pyogenes

Streptococcus pneumoniae

Haemophilus influenzae
Morazella catarrhalis
Staphylococcus aureus

175
Q

Tonsillitis: which antibiotics are used?

A

1st: Phenoxymethylpenicillin 5-10 days
Clarithromycin/erythromycin

176
Q

Indications for tonsillectomy

A

≥ 7 episodes in 1 year
≥ 5 episodes/year over 2 years
≥ 3 episodes/year over 3 years

OR

OSA or sleep-deprived breathing

177
Q

Tonsillitis complications

A

Recurrent Tonsillitis
Retropharyngeal Abscess
Peritonsillar Abscess (Quinsy)
Lemierre’s syndrome

178
Q

Lemierre’s syndrome presentation + management

A

Inflammation within the internal jugular vein and septic emboli

High dose benzylpenicillin and debridement

179
Q

Peritonsillar abscess management

A

Antibiotics + aspiration

180
Q

Sinusitis: which antibiotics are used?

A

1st: Penicillin V (phenoxymethylpenicillin)
2nd: Clarithromycin
3rd: Doxycycline (not if < 12)
Systemically very unwell: co-amoxiclav

181
Q

Sinusitis complications

A

Periorbital sinusitis

182
Q

Periorbital cellulitis features

A

URTI followed by painful swollen eye
Proptosis
Red colour vision loss

183
Q

Periorbital cellulitis investigation + management

A

CT orbit

IV antibiotics, drainage of abscess

184
Q

Most common cause of stridor in neonates

A

Laryngomalacia

185
Q

Laryngomalacia management

A

Monitoring - usually self corrects at 12-18 months

Otherwise supraglottoplasty can be done

186
Q

Laryngomalacia appearance

A

Shorter aryepiglottic folds create omega shaped epiglottis

187
Q

Branchial cyst features

A

Anechoic USS
Transilluminable
Originate from 2nd branchial cleft
Lateral

188
Q

2 midline neck masses

A

Thyroglossal cyst
Dermoid

189
Q

Thyroglossal cyst features

A

Below hyoid
Anechoic USS
Moves with tongue protrusion

190
Q

Down syndrome features

A

Short stature
Low set ears
Brushfield spots on iris
Sandal toe gap
Uploping eyes
Flat ears
Large tongue
Flat nasal bridge
CHD
Hypotonia
Single palmar crease

191
Q

Down syndrome antenatal testing results

A

Combined: HCG up, PAPP-A down, thickened nuchal translucency

Triple/quadruple: inhibin A up, oestriol down, HCG up, AFP down

192
Q

Aetiology of Down syndrome

A

Trisomy 21

Genetic mutations:
Non-disjunction
Translocation (Robertsonian)
Mosaicism

193
Q

Down syndrome: gastrointestinal disorders associated

A

Duodenal atresia
Hirschsprung’s disease

194
Q

Down syndrome: check ups

A

Regular thyroid checks
Echocardiogram
Regular audiometry
Regular eye checks

195
Q

Patau syndrome aetiology

A

Trisomy 13

196
Q

Patau syndrome features

A

Polydactyly
Cleft Palate
MicroPhthalmia
Micrognathia

197
Q

Edward syndrome aetiology

A

Trisomy 18

198
Q

Edward syndrome features

A

Micrognathia
Rocker bottom feet
Overlapping of fingers
CHD
Microcephaly
Low-set ears

199
Q

Pierre-Robin sequence features

A

Micrognathia
Posterior displacement of tongue
Cleft palate

200
Q

Pierre-Robin sequence aetiology + syndromic associations

A

SOX9 gene mutation

Stickler syndrome / campomelic dysplasia

201
Q

Turner syndrome karyotypes + aetiology

A

Monosomy X0

Also possibly for 46 XY - Mosaic Turner syndrome

SHOX gene affected

202
Q

Turner syndrome features

A

Lymphoedema in neonates
Delayed puberty
Short stature
Recurrent otitis media
Webbed neck
Low posterior hairline
Bicuspid aortic valve
Low set ears
Spoon shaped nails

203
Q

Turner syndrome investigation results

A

Increased FSH, LH
Decreased oestrogen

204
Q

Turner syndrome management

A

Oestradiol for amenorrhoea
GH for short stature

205
Q

Noonan syndrome mode of inheritance

A

Autosomal dominant

206
Q

Noonan syndrome associated cardiovascular malformations + other features

A

Pulmonary stenosis
Hypertrophic cardiomyopathy
ASD
VSD

Pectus carinatum + excavatum
Short stature
Low set ears
Webbed neck + widely spaced nipples
Cryptorchidism

207
Q

Diagnosis of constitutional delay

A

Xray hand

208
Q

Kallman syndrome aetiology

A

Hypogonadotropic hypogonadism
Secondary gonadal failure

Due to failure of GnRH secreting neurons to migrate to hypothalamus, leading to congenital deficiency of GnRH

209
Q

Kallman syndrome features

A

Delayed puberty
Cryptorchidism
Anosmia - 75%

210
Q

Klinefelter’s syndrome karyotype

A

47XXY

211
Q

Klinefelter’s syndrome aetiology + presentation

A

Hypergonadotropic hypogonadism

Tall
Small, firm testicles < 5ml
Infertile
Gynaecomastia
Reduced pubic hair

212
Q

William’s syndrome aetiology

A

Microdeletion on chromosome 7

213
Q

William’s syndrome features

A

Elfin-like facies
Friendly
Short stature
Strabismus
Learning difficulties
Transient neonatal hypercalcaemia
Elongated philtrum
Supravalvular aortic stenosis

214
Q

William’s syndrome associated cardiac malformation

A

Supravalvular aortic stenosis

215
Q

Fragile X syndrome mode of inheritance + gene affected

A

X linked dominant

CGG repeat in FMR-1 on chromosome X

216
Q

Fragile X syndrome features

A

Males more affected due to 1 X chromosome

Learning difficulties
Large low set ears
Long thin face
High arched palate
Hypotonia
Macrocephaly
Autism
Macroorchidism

217
Q

Fragile X syndrome associated cardiac malformation

A

Mitral valve prolapse

218
Q

Angelman syndrome aetiology

A

Genomic imprinting
Maternal gene deleted

219
Q

Prader Willi syndrome aetiology

A

Genomic imprinting
Paternal gene deleted

220
Q

McCune-Albright syndrome aetiology

A

Random, somatic mutation in GNAS gene

221
Q

McCune-Albright syndrome features

A

Precocious puberty
Cafe au lait spots
Short stature
Polyostotic fibrous dysplasia

222
Q

Tay-Sachs disease aetiology

A

Autosomal recessive
Fault in HEXA gene

223
Q

Tay-Sachs disease features

A

“Cherry-red” spots in eyes
Progressive macrocephaly
Seizures
Vision & hearing loss

224
Q

DiGeorge syndrome aetiology

A

Microdeletion of q arm of chromosome 22
Loss of TBX1/COMT gene

225
Q

DiGeorge syndrome features

A

Interrupted aortic arch
VSD
Cleft palate

226
Q

4 types of cerebral palsy

A

Spastic
Dyskinetic
Ataxic
Mixed

227
Q

Cerebral palsy + primitive and postural reflexes

A

Persistent primitive reflexes
Lack of development of postural reflexes

Due to UMN abnormality

228
Q

Primitive reflexes

A

Moro
Grasp
Galant

229
Q

Postural reflexes

A

Positive support
Landau
Lateral propping
Parachute

230
Q

Delayed motor milestones examples

A

Not sitting by 8 months
Not walking by 18 months
Early assymetry of hand function before 1 year

231
Q

Medications to treat spasticity in cerebral palsy

A

Diazepam
Baclofen

232
Q

ALL features

A

Pallor
Lethargy
Splenomegaly
Petechiae

233
Q

ALL investigations

A

Blood film - blast cells
Bone marrow aspiration
Lumbar puncture
Anaemia
Thrombocytopenia
Leukocytosis

234
Q

3 poor prognostic factors of ALL

A

Male
Non-Caucasian
Age < 2 or > 10
T or B cell surface markers

235
Q

Brain tumour symptoms

A

Persistent headaches - worse in mornings
Signs of raised ICP - HTN or bradycardia
Seizure in older child without fever or history of seizures

236
Q

Indications to admit for febrile seizure

A

< 18 months
Uncertain cause
Features of complex febrile seizure
Recent antibiotics
1st seizure
Focal neurological deficit
Decreased level of consciousness prior to seizure
Parent/carer anxiety

237
Q

Febrile seizure clinical presentation

A

Tonic-clonic seizures
Usually brief < 5 minutes

238
Q

Absence seizure EEG findings

A

3 Hz spike and wave

239
Q

Absence seizure management

A

Ethosuxumide > Sodium valproate

240
Q

How can an absence seizure be precipitated?

A

Hyperventilation

241
Q

Reflex anoxic seizure features + pathophysiology

A

Benign
Associated with precipitating trigger e.g. sudden pain or vomiting

Due to overstimulation of vagus nerve

242
Q

Benign rolandic epilepsy features

A

3-10 years
Partial seizures at night - paraesthesia on waking up
Outgrow around puberty

243
Q

Benign rolandic epilepsy EEG findings

A

Centro-temporal spikes

244
Q

Febrile seizures management

A

Reassure + safety net

Admission if:
1st febrile seizure
< 18 months old
Has taken antibiotics
Complex febrile seizure
Focal neurological deficit
No fever
Uncertain diagnosis
LOC before seizure

245
Q

Features of complex febrile seizure

A

Partial or focal seizures
> 15 minutes
Occur multiple times during illness / within 24 hours
Doesn’t fully recover within 1 hour

246
Q

Janz syndrome

A

Juvenile myoclonic epilepsy

247
Q

Juvenile myoclonic epilepsy features

A

10-14, F>M

Generalised seizures in morning leading to sleep deprivation
Daytime abscences, clumsiness
Sudden shock-like myoclonic seizures

248
Q

Juvenile myoclonic epilepsy management

A

SV > lev

249
Q

Lennox-Gastaut syndrome EEG findings

A

Slow spike and wave

250
Q

Lennox-Gastaut syndrome features

A

Drop attacks
Learning difficulties – severe & worsen over time

251
Q

Benign myoclonic epilepsy features

A

Infancy
Myoclonic jerks in sleep

252
Q

Infantile spasm features

A

Poor prognosis

Salaam attacks / jack-knife spasms

253
Q

Infantile spasms EEG findings

A

Hypsarrhythmia

254
Q

Retinoblastoma gene mutation

A

RB1 tumour suppressor gene mutation on chromosome 13

255
Q

Retinoblastoma examination findings

A

Absence of red reflex
Leukocoria (white pupil)
Strabismus (squint)
Visual problems
Swollen/shrunken eye

256
Q

Erb’s palsy features

A

“Waiter’s tip” position - adduction and internal rotation of arm
Pronation of forearm

257
Q

Hydrocephalus investigation

A

Cranial ultrasound - through anterior fontanelle

258
Q

Hydrocephalus causes

A

Obstructive: tumour, acute haemorrhage, developmental abnormalities
Non-obstructive: choroid plexus tumour, meningitis

259
Q

Hydrocephalus features

A

Impaired upward gaze
Bulging anterior fontanelle
Enlarged head circumference
Distension of veins across scalp

260
Q

UTI investigations

A

USS
MCUG - VUR
DMSA - scarring

261
Q

Indications for hospital admission with UTI

A

< 3 months
No response within 24-48 hours of treatment

262
Q

Antibiotics for UTI

A

1st: trimethoprim / nitrofurantoin
2nd: amoxicillin / cefalexin

If < 3 months: IV cefotaxime / ceftriaxone + amoxicillin

263
Q

Imaging for recurrent UTI

A

USS during acute infection if < 6 months
USS within 6 weeks if > 6 months
DMSA scan 4-6 months after UTI

264
Q

Imaging for atypical UTI

A

USS during acute infection
DMSA scan 4-6 months later if < 3 years old

265
Q

Indication for imaging with USS of UTI during acute infection

A

Non-E. coli infection
Failure to respond to Abx after 48 hours
Abdominal mass
Poor urine flow
Recurrent UTI < 6 months old

266
Q

Indication + timing for imaging with DMSA scan for UTI

A

4-6 months later

< 3 years old with atypical UTI
Anyone with recurrent UTI

267
Q

Haemolytic uraemic syndrome features

A

Haemolytic uraemia
Thrombocytopenia
AKI

268
Q

Haemolytic uraemic syndrome investigations + results

A

FBC: anaemia, thrombocytopaenia, fragmented blood film, decreased haptoglobin

U&E: AKI

Stool culture
Looking for evidence of STEC infection
PCR for shiga toxins

(pls fix)

269
Q

Antibiotics for pyelonephritis

A

Cephalosporin / co-amoxiclav 7-10 days

270
Q

Most common childhood malignancy

A

ALL

271
Q

Wilm’s tumour features

A

Abdominal mass
Haematuria
Abdominal/flank pain

272
Q

Management of unexplained abdominal mass

A

Paediatric review within 48 hours

273
Q

What % of UTI cases does vesicoureteric reflux account for?

A

30%

274
Q

Minimal change disease management

A

1st: steroids
2nd: ciclosporin

275
Q

Minimal change disease triad

A

Proteinuria
Hypoalbuminia
Oedema

276
Q

Complications associated with nephrotic syndrome

A

DVT/PE
Pleural effusion
Increased risk of infection due to Ig loss in urine
Chronic kidney disease
Hypocalcaemia
Hyperlipidaemia (increased risk of stroke/MI)

277
Q

3 causes of nephritic syndrome

A

IgA nephropathy
Post streptococcal glomerulonephritis
Alport syndrome

278
Q

Alport syndrome aetiology + mode of inheritance

A

Defective gene coding for type IV collagen - producing abnormal GBM

X-linked dominant

279
Q

Alport syndrome features

A

Microscopic haematuria
Progressive renal failure
Bilateral sensorineural deafness

280
Q

Management of nocturnal enuresus + age

A

Age > 5

1: enuresis alarm
2: desmopressin

281
Q

Hypospadias most likely location

A

Distal ventral

282
Q

Management of hypospadias

A

Corrective surgery around 12 months
Avoid circumcision before surgery

283
Q

Phimosis management

A

Most resolve by 2 years old
Circumcision

284
Q

Testicular torsion features

A

Absent cremaster reflex
Elevation of testis does not ease pain (-ve Prehn’s sign)

285
Q

Epididymitis features

A

Present cremaster reflex
Elevation of testis eases pain (+ve Prehn’s sign)