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Phase 3a Medicine > Paeds > Flashcards

Paeds Flashcards

1
Q

What MSK problems may cause pain without swelling?

A

Hypermobile joints
Perthes diseases
Metabolic - hypothyroidism
Tumour - benign or malignant

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2
Q

Define juvenile idiopathic arthritis.

A

Joint inflammation in someone under 16 years for over 6 weeks (other causes excluded)

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3
Q

How is JIA classified?

A

Number of joints affected in the first 6 months

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4
Q

What are the classifications of JIA? (6)

A 
Oligoarticular
Polyarticular RF -ve
Polyarticular RF +ve 
Systemic onset JIA
Psoriatic
Enthesitis related arthritis
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5
Q

What is the most common classification of JIA and describe it.

A 
Oligoarticular (50%)
1-4 joints affected in first 6 months 
70% ANA +ve
Ankle/knee
Swelling, stiffness, reduced ROM, little pain
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6
Q

Describe polyarticular RF -ve JIA.

A

5+ joints
Asymmetrical/symmetrical
Stiffness, little swelling
Destructive

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7
Q

Describe polyarticular RF +ve JIA.

A 
5+ joints 
RF seen on 2 occasions 
Symmetrical involvement of hand/wrist
Possible rheumatoid nodules
Systemic features - fever, HSmegaly, serositis, pericardial effusion
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8
Q

Describe systemic onset JIA.

A 
Arthritis with fever every day for >2 weeks
1 of:
Rash
Lymphedema 
HSM
Macrophage activation syndrome (MAS)
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9
Q

Describe psoriatic arthritis.

A 
Arthritis + psoriasis
or
Arthritis + 2 of:
Dactylitis
Nail pitting
Psoriasis in first degree relative
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10
Q

Describe ERA

A 
Arthritis + enthesitis 
or
Arthritis + 2 of:
Hx SIJ tenderness
HLAB27
Onset over 6 years of age in males 
Acute anterior uveitis 
Reiter syndrome
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11
Q

What complications can occur with JIA?

A 
Chronic anterior uvetis
Flexion contracture
Growth failure
Anaemia of chronic disease
Delayed puberty
Osteoporosis
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12
Q

How is JIA diagnosed?

A

Clinically

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13
Q

What may been seen on FBC of a patient with JIA?

A

Normocytic anaemia
Normal or raised WCC
Raised platelets

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14
Q

What blood tests can be done for JIA?

A

ANA
RF
HLAB27

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15
Q

What investigations may be done for JIA?

A 
MSK examination
X ray
Ophthalmology review
USS
MRI
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16
Q

What is the non-medical management for JIA?

A

Physiotherapy
Hydrotherapy
Physical activity

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17
Q

What is the pharmacological treatment for JIA?

A

NSAIDs and analgesia
1st line - intra articular steroid injections
DMARDS - methotrexate, sulfasalazine
Biologics - rituximab, infliximab, tocilizumab

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18
Q

What does tocilizumab target?

A

Interleukin 6

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19
Q

What does infliximab target?

A

TNF-alpha

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20
Q

What does rituximab target?

A

CD20 cells

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21
Q

Why should systemic steroids be avoided for JIA?

A

Risk of osteoporosis

Growth supression

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22
Q

What is osteomyelitis?

A

Long bone infection affecting the metaphysis

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23
Q

How does osteomyelitis occur?

A

Haematogenous spread
Adjacent site e.g. cellulitis
Penetrating trauma

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24
Q

Where are the most common sites for osteomyelitis?

A

Femur

Proximal tibia

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25
Q

How old do children with osteomyelitis tend to be?

A

< 2 years

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26
Q

What organism cause osteomyelitis in an otherwise well child?

A

Staph aureus
Group A beta haemolytic strep
H. influenzae (if not vaccinated)

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27
Q

What is the causative organism of osteomyelitis in an immunocompromised child?

A

TB

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28
Q

What is the clinical presentation of osteomyelitis?

A

Severe pain
Immobile limb, severe pain on movement
Inflammatory signs over the affected area
Sterile effusion in adjacent joints

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29
Q

What can occur as a complication of osteomyelitis?

A

Septic arthritis

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30
Q

What would an X-ray of osteomyelitis show?

A

Initially normal

After 7-10 days, shows new subperiosteal bone formation

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31
Q

What may be seen on FBC of a patient with osteomyelitis?

A

Raised WCC, ESR and CRP

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32
Q

How would you identify osteomyelitis infection?

A

MRI

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33
Q

What is the treatment of osteomyelitis?

A

Cefuroxime over 3 months (6 weeks minimum)

Initially IV then switch to oral when CRP < 10, if tolerated, walking around or no collection

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34
Q

What abx would be given if blood culture showed staph aureus infection?

A

Flucloxacillin

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35
Q

What is septic arthritis?

A

Infection of the joint space.

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36
Q

Why is SA considered an emergency?

A

Can lead to bone destruction in < 24 hours.

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37
Q

When should SA always be considered?

A

In the limping child.

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38
Q

What is the peak incidence of SA?

A

< 2 years

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39
Q

How can a child get SA? (4)

A

Haematogenous spread Puncture wound
Infected skin lesion (chickenpox)
Spread from osteomyelitis (especially in hip)

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40
Q

What is the causative organism of SA in neonates?

A

Group B step

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41
Q

What is the causative organism of SA in adolescents?

A

Neisseria gonorrhoeae

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42
Q

What is also seen in SA caused by Neisseria gonorrhoeae?

A

Migratory polyarthralgia
Multiple joint involvement
Small red papules

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43
Q

What is the CP of SA?

A

Acute febrile child

Erythematous, warm, acute tender joint with reduced ROM

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44
Q

Why is diagnosis of SA of the hip difficult?

A

Due to large amounts of SC fat.

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45
Q

What criteria is used to diagnose SA?

A

Kocher criteria

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46
Q

What are the points used in criteria to diagnose SA?

A

WCC > 12
ESR > 40
Fever > 38.5
Inability to weight bear

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47
Q

What is the gold standard investigation for SA?

A

USS guided joint aspiration and microscopy

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48
Q

What is the treatment for SA?

A

Surgical drainage followed by IV abx, usually for 6 weeks.

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49
Q

When might surgical treatment not be indicated in SA?

A

Neisseria gonorrhoeae infection.

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50
Q

What complications can occur with SA?

A 
Femoral head destruction
Deformity
Joint contracture
Limb-length discrepancy
Gait abnormality
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51
Q

What is transient synovitis?

A

Inflammation of the synovium causing hip pain.

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52
Q

How does transient synovitis present?

A

Recent URTI
Acute/insidious onset of thigh/groin pain
Refusal to weight bear

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53
Q

What is seen on examination of transient synovitis?

A

Mild-moderate restriction of internal hip rotation, painless arc of motion.

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54
Q

How would you differentiate transient synovitis from SA of the hip?

A

FBC would be normal.

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55
Q

When should transient synovitis be diagnosed?

A

Only when everything else has been excluded.

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56
Q

What is the treatment for transient synovitis?

A

Supportive - rest and analgesia

Self limiting within one week

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57
Q

What are risk factors for developmental dysplasia of the hip?

A 
Being female
Breech presentation
Family history
First born children
Oligohydramnios
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58
Q

When is DDH usually noticed?

A

Newborn screening examination or 8 week examination

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59
Q

What two tests can be used to screen for DDH?

A

Barlow: attempts to posteriorly dislocate the articulated femoral head
Ortolani: attempts to relocate dislocated femoral head

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60
Q

What may be seen on inspection of DDH?

A

Asymmetry:
Gluteal or thigh skin folds
Limb length discrepancy

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61
Q

What may be observed on examination of DDH?

A

Limitation and asymmetry of hip abductors when flexed to 90 degrees
Benign hip clicks

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62
Q

How is DDH diagnosed?

A

Dynamic USS

Pelvic X ray in older infants

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63
Q

What is the management of DDH?

A

Early diagnosis

Appropriate alignment in first few months can mean DDH resolves spontaneously

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64
Q

What is osteogenesis imperfecta?

A

Inherited condition causing increased fragility of bone, lower density and joint laxity

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65
Q

What tissue does OI affect principally?

A

Those containing collagen type I - bones and teeth

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66
Q

Expect for bones and teeth, what other tissues can OI affect? (5)

A

Sclerae, joints, tendons, heart valves, skin

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67
Q

What is the inheritance pattern of OI?

A

Autosomal dominant.

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68
Q

Mutations in what genes caused OI?

A

COL1A1 and COL1A2

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69
Q

What can OI be mistaken for and why?

A

Child abuse and NAI - may be inconsistent history of injury frequency and severity.

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70
Q

How many presentations of OI are there?

A

Types 1-4.

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71
Q

What is the most common presentation of OI?

A 
Type 1:
AD
Blue sclera
Hearing loss in 50%
Fractures before puberty
Normal life expectancy
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72
Q

What is the lethal perinatal form of OI?

A 
Type 2: 
AR
Many fractures
Blue sclera
Dwarfism
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73
Q

Describe osteogenesis imperfecta type 3:

A 
AR
Fractures at birth
Progressive spine and limb deformity
Blue sclera
Dentinogenesis imperfecta
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74
Q

Describe osteogenesis imperfecta type 4:

A

Autosomal dominant
Fragile bones
White sclera after infancy

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75
Q

How is OI detected?

A

Antenatal diagnosis by USS

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76
Q

What is seen on X-ray of OI?

A

Low bone density

Bowing of long bones

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77
Q

What does histology of OI bone show?

A

Immature, unorganised bone, abnormal cortex

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78
Q

How is OI managed?

A

Prevent injury, physiotherapy, rehabilitation, bracing

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79
Q

Medical management of OI? What effects does it have on the patients life?

A

Alendronate - reduces fracture frequency, reduces pain, increased mobility, no adverse effects on growth

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80
Q

When may surgery be indicated for OI?

A

To correct deformities - osteotomies, intramedullary rods.

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81
Q

What is Perthe’s disease?

A

Idiopathic avascular necrosis of the proximal femoral epiphysis in children.

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82
Q

Who does Perthe’s disease affect?

A

5-10 year olds, males > females

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83
Q

What is the pathophysiology behind Perthe’s disease?

A

Osteonecrosis occurring secondary to disruption of blood flow to femoral head.
Followed by revascularisation, subsequent resorption and later collapse

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84
Q

Over what time scale does Perthe’s disease occur?

A

Years

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85
Q

Name 4 symptoms of Perthe’s disease.

A
  1. Pain in hip/groin + referred pain to the knee.
  2. Pain worse on activity, relieved by rest
  3. Painful muscle spasms
  4. Limp
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86
Q

What are the complications of Perthe’s disease?

A

OA secondary to aspherical femoral head

Premature fusion of growth plates

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87
Q

What may be seen on examination of a patient with Perthe’s disease?

A

Limited abduction and internal rotation

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88
Q

What is seen on X-ray/MRI of Perthe’s disease?

A

Space widening.

Later signs - decreased femoral head size, patchy density, collapse and deformity.

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89
Q

What radiological classification is used for Perthe’s disease?

A

Herring criteria.

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90
Q

What is the management of Perthe’s disease based on prognosis?

A 
High prognosis (< 6 years at onset) - observe
Low prognosis - surgery
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91
Q

How is prognosis determined for Perthe’s disease?

A

Determined by risk of OA. Better in younger patients (< 6) as increased ability to remodel.

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92
Q

When is surgery indicated in Perthe’s disease?

A

> 1/2 femoral head affected.

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93
Q

What are non-operative treatment options for Perthe’s disease?

A

Limit activity, NSAIDs, physio, casting, bracing, protected weight bearing

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94
Q

What is SUFE?

A

Slipped upper femoral epiphysis

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95
Q

When does SUFE occur?

A

10-16 years during adolescent growth spurt

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96
Q

What is a major RF for SUFE?

A

Obesity.

97
Q

What happens in SUFE?

A

Displacement of the growth plate with epiphysis slipping inferiorly and posteriorly

98
Q

How does SUFE present?

A 
Hip pain
Limping
External rotation of the hip
Flexion, abduction and internal rotation limited
90% able to weigh bear
99
Q

Describe the onset of SUFE?

A

Acute following trauma or insidious

100
Q

How is SUFE diagnosed?

A

Confirmed using X-ray (anterior and frog-leg lateral)

101
Q

What is the treatment for SUFE?

A

Surgical fixation with pin to stabilise slippage and encourage physeal closing.

102
Q

What conditions are associated with SUFE?

A

Hypothyroidism
Renal osteodystrophy
Growth hormone deficiency
Panhypopituitarism

103
Q

What is Osgood Schlatter disease?

A

Self limiting disorder of the knee

Osteochondritis of the patella tendon insertion at the knee

104
Q

What thought to be the pathophysiology behind OSD?

A

Multiple small avulsion fractures from contraction of the quads at their insertion into the proximal tibial apophysis

105
Q

When does OSD occur?

A

Adolescent growth spurt before tibial tuberosity has finished ossifying
Boys 12-15 years
Girls 8-12 years

106
Q

What is the clinical presentation of OSD?

A

Gradual onset pain/swelling/tenderness over tibial tuberosity
Relieved by rest
Exacerbated by running/jumping - knee extension against resistance.

107
Q

What is another name for OSD?

A

Tibial apophysitis.

108
Q

What would a knee X-ray of OSD show?

A

Irregular apophysis

Separation from tibial tuberosity

109
Q

How is OSD treated? (4)

A

Rest from painful activities
Ice
Physio
Simple analgesia

110
Q

Who does OSD affect?

A

Sporty teenagers

111
Q

What is Kohler’s disease?

A

Rare disorder affecting the navicular bone and causing foot pain in children (6-9 years).

112
Q

What are the signs and symptoms of Kohler’s disease?

A

Foot pain across tarsal region

Limp

113
Q

What does an X-ray of Kohler’s disease show?

A

Dense, deformed bone

114
Q

What is the treatment of Kohler’s disease?

A

Rest
Cast in acute cases
Analgesia

115
Q

What is the prognosis for Kohler’s disease?

A

Good

Few long term complications

116
Q

What is discoid meniscus?

A

When meniscus is thicker than usual and often over or disc shaped

117
Q

How does discoid meniscus present?

A

Can be asymptomatic
Pain, stiffness or swelling of the knee
‘Popping’ knee, may give way, inability to straighten

118
Q

What is the treatment of discoid meniscus?

A

Knee arthroscopy

Physio post-surgery

119
Q

What Hb level indicates anaemia in a neonate?

A

Hb <140 g/L

120
Q

What Hb level indicates anaemia in a 1 - 12 month old?

A

Hb <100 g/L

121
Q

What Hb level indicates anaemia in a child aged between 1 - 12 years?

A

Hb <110 g/L

122
Q

What are the mechanisms of anaemia?

A

Impaired red cell production
Increased red cell destruction
Increased demand
Blood loss

123
Q

What can cause impaired red cell production?

A

Red cell aplasia

Ineffective erythropoiesis

124
Q

What can cause ineffective erythropoiesis?

A

Iron deficiency
Folic acid deficiency
Chronic inflammation
Rare - myelodysplasia, lead poisoning

125
Q

What conditions can cause red cell aplasia?

A 
Parvovirus B19 infection
Diamond-Blackfan anaemia
Transient erythroblastopenia of childhood
Falcon anaemia
Aplastic anaemia
Leukemia
126
Q

What can cause increased red cell destruction?

A 
Hereditary spherocytosis 
G6PD deficiency
Thalassaemias
Sickle cell disease
Haemolytic disease of the newborn
127
Q

What can cause blood loss in children?

A

Trauma
Feto-maternal bleeding
Chronic GI loss (Meckel’s diverticulum)
von Willerbrand disease

128
Q

What antibodies exist against blood group antigens?

A

Anti-D ‘Rhesus”
Anti-A or anti-B
Anti-Kell

129
Q

What is the pathophysiology of HDN?

A

Mother = -ve
Baby = +ve
Mother makes abs that cross the placenta and cause HDN

130
Q

How is HDN diagnosed?

A

Coombs test - positive direct anti-globulin test

131
Q

How does HDN present?

A 
Pallor
HSM
Oedema
Ascites 
Petechiae
Increased unconjugated bilirubin
132
Q

How is HDN treated?

A

Prevent sensitisation with Rh immune globulins

Intrauterine transfusion

133
Q

What is physiological anaemia?

A

“Nadir”

Reached at 2 months when cross over from HbF to HbA occurs

134
Q

What is Falconi anaemia?

A

Autosomal recessive inherited aplastic anaemia

135
Q

What is the pathophysiology of Falconi anaemia?

A

Mutation in FANC genes (mainly FANCA)

136
Q

What congenital abnormalities are seen in Falconi anaemia?

A 
Short stature
Abnormal radii and thumbs
Renal malformations
Microphthalmia
Pigmented skin lesions
Bone marrow failure
137
Q

When are signs of bone marrow failure seen in children with Falconi anaemia?

A

5-6 years old

138
Q

How is Falconi anaemia diagnosed?

A

Normal blood count at birth

Chromosomal breakage test - increased chromosomal breakage of peripheral lymphocytes

139
Q

What is the prognosis of Falconi anaemia?

A

High risk of death from bone marrow failure

Transformation to acute leukaemia

140
Q

What is the treatment of Falconi anaemia?

A

Bone marrow transplant

141
Q

What percentage of iron from breast milk is absorbed?

A

50%

142
Q

What percentage of iron from cow’s milk is absorbed?

A

10%

143
Q

What contributes to anaemia of prematurity?

A

Inadequate erythropoietin production
Reduced red cell lifespan
Frequent blood sampling
Iron and folic acid deficiency (2-3 months-)

144
Q

What is sickle cell disease?

A

Rigid sickled cells due to AR of abnormal haemoglobin gene on chromosome 11.

145
Q

What causes HbS to form?

A

Point mutation of codon 6 of B-globulin
Change in amino acid from glutamine to valine
A to G

146
Q

What Hb is inherited in Sickle cell disease?

A

HbSC

HbS from one parent, HbC from the other

147
Q

What Hb is inherited in Sickle cell anaemia?

A

HbS from both parents

148
Q

What Hb is inherited in Sickle cell trait?

A

HbS from one parent, normal B-globulin gene from the other (HbA)
40% HbS, asymptomatic

149
Q

What problems are caused by HbS?

A

Low oxygen tension

Cells cannot flex through capillaries leading to blockage, vessel occlusion and ischemia

150
Q

What complications can occur with SCD?

A 
Anaemia
Infection/spesis
Painful vaso-occlusive crises
Splenomegaly
Priapism
151
Q

What are long-term problems associated with SCD?

A 
Strokes
Short stature
Delayed puberty
Cardiomegaly and HF
Pigment gallstones
Renal dysfunction
152
Q

What can precipitate vaso-occlusive crises?

A

Cold, infection, exercise, dehydration, hypoxia

153
Q

How may sequestration crises present?

A

Sudden HSM, abdominal pain and circulation collapse

154
Q

What should be given to prevent infection in SCD?

A

Prophylactic penicillin - reduced mortality due to sepsis

Children should be fully immunised

155
Q

How is SCD detected?

A

Neonatal screening by Hb electrophoresis.

156
Q

How can vaso-occlusive crises be avoided in SCD?

A

Avoid cold, dehydration, excessive exercise, hypoxia

157
Q

How would painful crises in SCD be treated?

A 
Oral/IV analgesia
Fluids
Exchange transfusion 
Hydroxycarbamide increases HbF
No response/stroke - BM transplant
158
Q

What is thalassaemia?

A

Reduced globin chain synthesis

159
Q

What is beta-thalassaemia?

A

Defect in beta chains

4 in adult haemoglobin

160
Q

What is the inheritance pattern of beta-thalassaemia?

A

Autosomal recessive HBB gene on chromosome 11

161
Q

What is the consequence of reduced B chain production in beta-thalassaemia?

A

Excess of alpha chains
HbA2 raised - 2 alpha, 2 delta
HbF raised - 2 alpha, 2 gamma

162
Q

Describe beta-thalassaemia minor.

A

Heterozygote carrier state
Asymptomatic
Mild anaemia, low MCV, raised HbA2

163
Q

What mutation usually occurs in beta-thalassaemia?

A

Point mutations

164
Q

How is beta-thalassaemia diagnosed?

A

Hb electrophoresis - raised HbA2 and HbF

165
Q

What is beta-thalassaemia intermedia?

A

Individuals who are symptomatic with moderate anaemia that do not require regular transfusions

166
Q

When does beta-thalassaemia present?

A

First year of life

167
Q

How does beta-thalassaemia present?

A

Failure to thrive
Recurrent bacterial infections
Severe anaemia at 3-6 months
HSM and bone expansion - characteristic faces

168
Q

What is seen on blood film of beta-thalassaemia?

A

Large and small irregular hypochromic RBC

169
Q

What would blood results show?

A

Low MCV

Serum ferritin is normal

170
Q

What is the treatment of beta-thalassaemia?

A

BT every 2-4 weeks
Iron chelating agents
Ascorbic acid
Folic acid long term

171
Q

What are the complications of frequent blood transfusions?

A

Iron overload
Deposited in the liver and spleen - liver fibrosis and cirrhosis
Endocrine glands - diabetes, hypothyroidism, hypocalcaemia

172
Q

What causes alpha-thalassaemia?

A

Gene deletions on chromosome 16

173
Q

What is the clinical presentation of 4 gene deletion alpha-thalassaemia?

A

Only 4 gamma chains - Hb Barts - cannot carry O2
Babies still born or die shortly after
Hydrops fetalis

174
Q

What is the clinical presentation of 3 gene deletion alpha-thalassaemia?

A

HbH (4 beta) disease
Moderate anaemia and splenomegaly
Not usually transfusion dependant

175
Q

What is the clinical presentation of 2 gene deletion alpha-thalassaemia?

A

Carrier
Alpha-thalassaemia trait
Microcytosis
With or without anaemia

176
Q

What is the clinical presentation of 1 gene deletion alpha-thalassaemia?

A

Normal blood picture

177
Q

What is thrombocytopenia?

A

Low platelet count

178
Q

What is ITP?

A

Destruction of platelets by IgG autoantibodies.

179
Q

When does ITP occur?

A

Post viral infection in children ages between 2-10 years

180
Q

What are petechiae?

A

Small red/brown/purple spots 1-2mm in size

181
Q

What are purpura?

A

Purple spots from blood pooling under the skin <1cm

182
Q

What is the acute presentation of ITP?

A

Petechiae on extremities
Purpura/superficial bruising
Can cause epistaxis/mucosal bleeding

183
Q

What is the chronic presentation of ITP?

A

Platelet count remains low

Associated bleeding

184
Q

How is ITP diagnosed?

A

Diagnosis of exclusion

Low platelets

185
Q

What is the treatment of ITP?

A

Usually self-limiting
Rarely need prednisolone
Platelet transfusion in life-threatening haemorrhage

186
Q

What is von Willebrand disease?

A

Bleeding disorder caused by abnormality in vWF, carrier protein for factor VIII

187
Q

What is the role of vWF?

A

Binds to platelets and acts as bridge between damaged subendothelium.

188
Q

Where does vWF bind?

A

To glycoprotein Ib on platelets

189
Q

What types of vWD are autosomal dominant?

A

Type 1 - mild

Type 2A/2B - moderate

190
Q

What are features of vWD?

A

Bruising
Excessive/prolonged bleeding following surgery
Mucosal bleeding - epistaxis/menorrhagia

191
Q

What is the treatment of vWD?

A

Tranexamic acid
Type 1 - desmopressin (increases vWF and factor VIII)
Type 2 - vWF/factor VIII plasma concentrates

192
Q

Haemophilia A is a deficiency in which clotting factor?

A

VIII

193
Q

Haemophilia B is a deficiency in which clotting factor?

A

IX

194
Q

What is the inheritance pattern of Haemophilia?

A

X linked

195
Q

What is the CP of Haemophilia in the neonatal period?

A

Cephalohematoma
Iatrogenic bleeding
Umbilical cord bleeding

196
Q

What is the CP of Haemophilia in early childhood?

A

Easy bruising
Mouth bleeding
Spontaneous muscle/joint bleeds

197
Q

What is the treatment of haemophilia?

A

Factor VIII or IX

198
Q

What test can be done for haemophillia and what would the result be?

A

aPPT - prolonged

activated partial thromboplastin time

199
Q

What is acute lymphoblastic leukaemia?

A

Malignant disorder of lymphoid progenitor cells

200
Q

What cells does ALL arise from?

A

Majority B cells

Can be T cells

201
Q

What is the pathophysiology of ALL?

A

Lymphoid precursors proliferate and replace normal cells of bone marrow. Blasts spill into peripheral circulation.

202
Q

How is ALL distinguished from other malignancies of lymphoid tissue?

A

By immunophenotype of the cell.

Cytochemistry and cytogenetic markers used to classify.

203
Q

What is the peak age of ALL?

A

2-4 years

204
Q

What is meant by marrow failure?

A

Pancytopenia
Anaemia - low Hb
Infection - low WCC
Bleeding - low platelets

205
Q

What is the CP of ALL?

A 
Those associated with pancytopenia
Fever without infection
Bone/joint pain
Early satiety
Mediastinal lymphadenopathy
206
Q

How is ALL diagnosed?

A

FBC: anaemia, thrombocytopenia, neutropenia
Blood film: shows blast cells
Bone marrow aspirate/biopsy - confirms ALL, 50-98% nucleated cells = blasts

207
Q

How would you confirm CNS involvement in ALL?

A

LP - pleocytosis (large number of lymphocytes)

208
Q

What is the treatment for ALL?

A

Radiotherapy
Chemotherapy
Blood replacement therapy

209
Q

What are the 5 stages of chemotherapy treatment for ALL?

A 
Induction
Consolidation
Interim maintenance
Delayed intensification
Maintenance
210
Q

What are complications of ALL?

A

Neutropenic sepsis
Hyperuricemia
Poor growth
Other cancers

211
Q

What is neutropenic sepsis?

A

Patient with low neutrophil cannot fight infection and becomes septic

212
Q

How is neutropenic sepsis treated?

A

Tazocin +/- gentamicin +/- imipenem

Co-triomazole to prevent pneumocystis

213
Q

Why may hyperuricemia occur? How would you prevent it?

A

Massive cell death at induction. Prevent with allopurinol.

214
Q

Where does Wilms tumour originate?

A

Embryonal renal tissue

215
Q

What AD mutation can cause Wilms tumour?

A

WT1 or WT2 gene on chromosome 11

216
Q

What are risk factors of Wilms tumour?

A

Edwards syndrome
Bloom’s syndrome
WAGR

217
Q

What is WAGR?

A

Wilms
Aniridia - absence of iris
Gonadoblastoma
Mental retardation

218
Q

By what age does Wilms tumour usually present?

A

80% by 5 years

Rarely seen >10 years

219
Q

What is the CP of Wilms tumour?

A

Haematuria
Reduction in appetite
May be asymptomatic abdominal mass

220
Q

How is Wilms tumour diagnosed?

A

USS, CT, MRI
Urinalysis
Avoid renal biopsy

221
Q

How is Wilms tumour treated?

A

Nephrectomy preceded by chemotherapy

Radiotherapy if advanced

222
Q

What is a retinoblastoma?

A

Cancer that develops rapidly from immature cells of the retina

223
Q

What causes retinoblastoma to develop?

A

Loss of function of retinoblastoma suppressor gene on chromosome 13.

224
Q

When is retinoblastoma usually diagnosed?

A

<18 months

225
Q

What can be seen on examination?

A

Absent red reflex (also seen in cataracts)
Squint
Visual problems indicated

226
Q

What is the treatment for retinoblastoma?

A

Enucleation
External beam radiotherapy
Chemo
Photocoagulation

227
Q

Where do neuroblastomas arise from?

A

Neural crest tissue in the adrenal medulla and sympathetic nervous system

228
Q

When are neuroblastomas most common?

A

< 5 years

229
Q

What is the presentation of a neuroblastoma?

A 
Pallor
Weight loss
Abdominal mass
Hepatomegaly
Bone pain
230
Q

What are some less common symptoms of neuroblastoma?

A 
Paraplegia
Cervical lymphadenopathy
Proptosis
Skin nodules
Periorbital bruising
231
Q

What is found in the urine of a child with neuroblastoma?

A

Raised catecholamine metabolite levels
VMA
HVA

232
Q

How is localised neuroblastoma managed?

A

Surgery

233
Q

How is metastatic neuroblastoma managed?

A

Older children

Chemo, surgery and radiotherapy

234
Q

What are symptoms of raised ICP?

A 
Headache (worse on lying down)
Vomiting
Papilloedema
Confusion
Seizures
Ataxia
Reduced consciousness
235
Q

What is Cushings triad?

A

Physiological response to increased ICP:
Increased systolic BP
Reduced/irregular respiration
Bradycardia

236
Q

What is Cushings triad a sign of?

A

Impending brain herniation

237
Q

When should children be scanned for suspected CNS malignancy?

A

Headache +

Papilloedema, neuro signs, morning vomiting, ataxia, decelerated linear growth, < 3 years, NF1

238
Q

What is the treatment for CNA malignancy?

A

Surgery - resection, VP shunt
Chemo
Radiotherapy - post surgery, often used in combination with chemo

239
Q

Why is chemo not always effective for CNS malignancy?

A

Many do not pass the BBB

Phase 3a Medicine (6 decks)

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