Paeds malignant diseases and haematology (ILA 1) Flashcards

1
Q

What is the most common leukaemia in children?

A

Acute lymphoblastic leukaemia accounts for 80% of cases in children

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2
Q

What is leukaemia?

A

cancer of the white blood cells

overproduction of immature white blood cells -> inhibit production of normal cells in bone marrow -> infiltrates organs -> organ failure

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3
Q

How does leukaemia commonly present?

A

causes bone marrow infiltration which leads to…

  1. anaemia - pallor, lethargy
  2. thrombocytopenia - bruising, nose bleeds
  3. neutropenia - frequent infection
  4. bone pain
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4
Q

List poor prognosis factors for leukaemia

A
child <2 y/o or >10 y/o
B/T cell surface markers 
WBC >20 x 10^9/L
non caucasian
male sex
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5
Q

Which cells would you expect to see in ALL?

A

BLAST CELLS

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6
Q

How is ALL diagnosed?

A

FBC - anaemia, thrombocytopenia, neutropenia, blast cells

bone marrow examination *

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7
Q

How is ALL treated?

A

REMISSION INDUCTION - correct anaemia, hydration, treat infections

INTENSIFICATION - intensive chemo

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8
Q

What are the most common brain tumours in children?

A

astrocytoma **

(most malignant form is a glioblastoma multiforme)

most commonly infratentorial - located below the tentorium cerebelli

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9
Q

Outline the symptoms that you might see in a brain tumour

A

symptoms of raised intracranial pressure…

  1. vomiting (early in morning)
  2. headache
  3. abnormal eye movements - papilloedema, squint, nystagmus
  4. seizures
  5. problems with balance/ walking
  6. lethargy
  7. developmental delay/ problems at school / delayed puberty
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10
Q

List the signs of a tumour in the cortex

A

seizures
hemiplegia
focal neurological signs

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11
Q

List the signs of a tumour in the midline

A

visual field loss = bitemporal hemianopia

pituitary failure

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12
Q

List the signs of a tumour in the cerebellum / 4th ventricle

A

truncal ataxia
coordination difficulties
abnormal eye movements

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13
Q

List the signs of a tumour in the brainstem

A

cranial nerve defects
pyramidal tract signs
ataxia

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14
Q

List the signs of a tumour in the spine

A

peripheral weakness of limbs
back pain
bladder/ bowl dysfunction

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15
Q

how is a brain tumour diagnosed?

A

MRI

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16
Q

When would you consider scanning a child presenting with a headache?

A
  1. papilloedema, visual loss
  2. neurological signs
  3. <2 y/o
  4. headache in early morning with vomiting preceding
  5. short stature
  6. neurofibromatosis
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17
Q

How does hodgkin lymphoma commonly present?

A

painless lymphadenopathy ***

  • commonly in the neck
  • lymph nodes larger and firmer

several month history

systemic symptoms - tiredness, weight loss, sweating

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18
Q

How is hodgkins lymphoma diagnosed?

A

lymph node biopsy

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19
Q

Which lymphoma presents more commonly in childhood?

A

non hodgkin lymphoma more common in childhood

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20
Q

How does non- hodgkin lymphoma commonly present?

A

mediastinal mass which can cause SVC obstruction - dyspnoea, facial swelling, flushing, distended veins

bone marrow infiltration

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21
Q

What are the signs of bone marrow infiltration?

A
  1. anaemia
  2. neutropenia
  3. thrombocytopenia
  4. bone pain
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22
Q

How do neuroblastomas present?

A
  1. abdominal mass - large, hepatomegaly
  2. bone pain
  3. limp
  4. bone marrow suppression
  5. malaise
  6. weight loss
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23
Q

Where do neuroblastoma arise from?

A

arise from neural tissue in the adrenal medulla and sympathetic nervous system

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24
Q

What is the prognosis for a neuronblastoma?

A

poor - often present late at advanced state and metastatic

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25
Q

What is the most common renal tumour in children and when do they present?

A

Wilms tumour = nephroblastoma

usually present before the age of 5

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26
Q

where do wilms tumour arise from?

A

embryonal renal tissue

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27
Q

how do wilms tumour commonly present?

A

large abdo mass

haematuria

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28
Q

How are nephroblastomas diagnosed?

A

ULTRASOUND +/- CT +/- MRI

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29
Q

How are nephroblastomas treated?

A
  1. chemotherapy - prior and after surgery
  2. delayed nephrectomy
  3. radiotherapy
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30
Q

What is the most common form of soft tissue sarcoma in childhood?

A

rhabdomyosarcoma

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31
Q

Where do soft tissue sarcomas arise from?

A

cancers of connective tissue e.g. muscle or bone

rhabdomyosarcoma originate from primitive mesenchymal tissue

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32
Q

How do soft tissue sarcomas present?

A

head and neck most common site of disease - proptosis, nasal obstruction, bloodstained nasal discharge

Genitourinary tumours - dysuria, urinary obstruction, scrotal mass, vaginal discharge

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33
Q

How does a child with a bone tumour present?

A

usually a well child

persistent localised bone pain

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34
Q

Which investigations should be carried out for bone tumours?

A

bone scan

x-ray

MRI

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35
Q

What are the causes of retinoblastoma?

A

family history!! - all children with families with it are screened, RB1 gene, autosomal dominant

multimodal therapy

sporadic

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36
Q

How does retinoblastoma present?

A

white pupillary reflex

squint

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37
Q

Where do germ cell tumours arise from?

A

arise from primitive germ cells which migrate from yolk sac endoderm to form gonads in the embryo

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38
Q

Which markers are used to diagnose germ cell tumours?

A

alpha fetoprotein

beta hCG

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39
Q

What are the 2 types of primary malignant liver tumours?

A
hepatoblastoma (65%)
hepatocellular carcinoma (25%)
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40
Q

What are the common symptoms for a liver tumour?

A
  1. abdominal distension
  2. abdominal mass
  3. jaundice
  4. pain
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41
Q

How are liver tumours diagnosed?

A

elevated serum alpha fetoprotein

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42
Q

What are the symptoms of langerhans cell histiocytosis?

A
  1. bone lesions - pain, swelling, fracture
  2. diabetes insipidus
  3. systemic LCH - seborrhoea rash, soft tissue involvement
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43
Q

How is langerhans cell histiocytosis diagnosed and what would you see?

A

x-ray - lytic lesions with well defined border in bones, often involving skull (punched out osteolytic lesions)

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44
Q

What is langerhans histiocytosis?

A

abnormal proliferation of histiocytes

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45
Q

What are the most common cancers in children before the age of 5?

A

ALL
neuroblastoma
wilm tumour
retinoblastoma

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46
Q

What are the most common cancers in children at school age?

A

ALL

brain tumours

47
Q

What are the most common cancers in adolescent children?

A

ALL
hodgkin lymphoma
malignant brain tumours
soft tissue sarcomas

48
Q

Outline the ranges of Hb to classify as anaemia in neonates, infants and children

A

neonate <14
1-12 months <10
1-12 years <11

49
Q

Define anaemia

A

Hb level below the normal range

50
Q

How can anaemia be classified by mechanism?

A
  1. reduced red cell production
  2. increased red cell destruction
  3. blood loss
51
Q

List the causes of reduced red cell production

A

RED CELL APLASIA
parvovirus B19 infection
diamond blackfan anaemia
leukaemia

INEFFECTIVE ERYTHROPOIESIS 
iron deficiency 
folic acid deficiency 
chronic inflammation
chronic renal failure
52
Q

List the causes of increased red cell destruction

A

RED CELL MEMBRANE DISORDERS
hereditary spherocytosis

RED CELL ENZYME DISORDERS
glucose 6 phosphate dehydrogenase deficiency

HAEMOGLOBINOPATHIES
sickle cell disease
thalassaemia

IMMUNE
haemolytic disease of the newborn

53
Q

List the causes of blood loss

A

FETAL MATERNAL BLOOD LOSS

CHRONIC GI BLOOD LOSS
meckel diverticulum

INHERITED BLEEDING DISORDERS
von willebrand disease

54
Q

List some simple diagnostic tests to approach anaemia in children

A
  1. reticulocyte level
    if low -> red cell aplasia
    if high -> look at bilirubin
  2. bilirubin levels
    if normal -> blood loss or ineffective erythropoiesis
    if high -> haemolysis
55
Q

Outline the causes of iron deficiency anaemia

A
  1. INADEQUATE INTAKE
    1 y/o needs 8mg/day of iron
  2. MALABSORPTION
  3. BLOOD LOSS
56
Q

Why is it common for children to have iron deficiency anaemia?

A

children need additional iron for the increase in blood volume accompanying growth and to build their iron stores

57
Q

When would children experience symptoms with iron deficiency anaemia?

A

when Hb <6/7 ..

tired
slow feeding
pallor

58
Q

How is iron deficiency anaemia diagnosed?

A

microcytic hypochromic anaemia

low serum ferritin

59
Q

How is iron deficiency anaemia managed?

A
  1. dietary advice - eat foods high in iron e.g. red meat, oily fish, liver
  2. supplement with oral iron
    Sytron=sodium iron edetate or Niferex=polysaccharide iron complex
    continue taking until iron levels normal and then for another 3 months
60
Q

Define haemolytic anaemia

A

increased red cell destruction in the circulation/ liver/spleen causing reduced red cell lifespan

61
Q

How is haemolytic anaemia caused?

A
  1. red cell membrane disorders
    e. g. hereditary spherocytosis
  2. red cell enzyme disorders
    e. g. glucose-6-phospahte dehydrogenase deficiency
  3. haemoglobinopathies
    e. g. beta thalassaemia, sickle cell disease
62
Q

How does haemolytic anaemia present?

A

anaemia !

hepatomegaly and splenomegaly

63
Q

List some diagnostic clues indicating haemolytic anaemia

A

unconjugated bilirubinaemia
urinary urobilinogen increased
raised reticulocyte count

64
Q

Why is anaemia common in the newborn?

A

there is a fall in Hb from birth so normal levels reached at about 2 months:

  1. decreased RBC production
  2. shorter lifespan of neonatal RBCs
  3. more fragile RBCs
  4. switch from HbF to HbA
65
Q

How is hereditary spherocytosis inherited?

A

autosomal dominant

but 25% have no family history

66
Q

How does hereditary spherocytosis present?

A

jaundice **
anaemia
splenomegaly
gallstones (because of increased bilirubin excretion)

67
Q

How is hereditary spherocytosis diagnosed?

A

blood film

68
Q

How is hereditary spherocytosis managed?

A
  1. oral folic acid
  2. vaccinations
  3. lifelong dairy penicillin prophylaxis
  4. splenectomy (if symptomatic)
69
Q

how is G6PD deficiency inherited?

A

x-linked

70
Q

Where does G6PD deficiency have the highest prevalence?

A

central africa
mediterranean
middle/far east

71
Q

How does G6PD deficiency present?

A
  1. neonatal jaundice - first 3 days of life
  2. acute haemolysis
  3. chronic non spherocytic haemolytic anaemia
72
Q

How do acute haemolytic events present and how can they be triggered?

A

precipitated by: infection, broad beans, drugs (sulphonamides, nitrofurantoin, aspirin)

fever
pallor
jaundice
malaise
dark urine
73
Q

How is GP6D deficiency diagnosed?

A

measuring G6PD activity in red blood cells

74
Q

Define sickle cell anaemia

A

child is homozygous for HbS

they have small amounts of HbF, no HbA, so virtually all of Hb is HbS

75
Q

Define sickle cell trait

A

child is heterozygous for HbS so 40% of Hb is HbS

carriers of the disease so ASYMPTOMATIC

76
Q

How is sickle cell disease inherited?

A

autosomal recessive

77
Q

Where has the highest prevalence of sickle cell disease?

A

tropical africa

caribbean

78
Q

Describe the pathology behind sickle cell disease

A

HbS polymerises within RBC to form rigid tubular spiral bodies which deform the RBC into a sickle shape

the sickle shape causes:

  1. reduced lifespan of Hb
  2. blood vessel occlusion resulting in ischaemia in organs and bones
79
Q

Outline the symptoms of sickle cell disease

A
  1. anaemia (Hb 6-10 g/dl)
    jaundice
  2. increased susceptibility to infection
    e. g. pneumococci, H.influenza
  3. vaso-occlusive crises
    hand foot syndrome: dactylics with swelling and pain of fingers and feet
  4. acute anaemia
    haemolytic crises, aplastic crises, sequestration crises
  5. splenomegaly
6. long term problems 
short stature, delayed puberty 
heart failure
renal dysfunction
stroke
cognitive problems 
gallstones
80
Q

How is sickle cell disease managed?

A
  1. prophylactic penicillin and immunisation
  2. folic acid
  3. good hydration and nutrition
  4. hyroxyurea OR bone marrow transplant
81
Q

Where is beta thalassaemia most prevalent?

A

india
mediterranean
middle east

82
Q

What is beta thalassaemia and how is it classified?

A

severe reduction in production of beta global and reduction of HbA

  1. beta thalassaemia major - severe, death early teens
  2. beta thalassaemia intermedia - asymptomatic
83
Q

What is alpha thalassaemia major?

A

deletion of all 4 alpha globin genes

fatal in utero within hours of birth

84
Q

How does beta thalassemia major present?

A

severe anaemia + jaundice
failure to thrive
extra medullary haemopoiesis

85
Q

How is beta thalassemia major managed?

A

monthly lifelong blood transfusions!!!

+ iron chelation with desferrioxamine (prevent chronic iron overload)

86
Q

What is bone marrow failure syndrome?

A

“aplastic anaemia”

reduction or absence of all 3 main lineages in the bone marrow leading to peripheral blood pancytopenia

87
Q

What is the triad for the presentation of bone marrow failure?

A
  1. anaemia
    e. g. pallor, tired
  2. thrombocytopenia
    e. g. bruising, bleeding
  3. neutropenia
    e. g. infection
88
Q

How are bone marrow failure syndromes caused?

A

ACQUIRED
viruses e.g. hepatitis
drugs e.g. chemotherapy and toxins
idiopathic

INHERITED (RARE!!!)
Fanconi anaemia
Schwachmai-Diamond syndrome

89
Q

How is fanconi anaemia inherited and what are its complications?

A

autosomal recessive
congenial anomalies e.g. short stature, renal malformations
can progress to ALL

90
Q

Define haemostasis

A

normal process of blood clotting

91
Q

List the 5 main components of haemostasis

A
  1. coagulation factors
  2. coagulation inhibitors
  3. fibrinolysis
  4. platelets
  5. blood vessels
92
Q

How are thrombosis in children usually caused?

A

95% of VTE events are secondary to underlying disorders with hyper coagulable states “thombophilia”

e.g. protein C deficiency, protein S deficiency, anti thrombin deficiency, factor v leiden, prothrombin gene G20210A mutation

93
Q

How are children with VTE managed?

A

must be screened for inherited thrombophilia disorders e.g. PCR, prothrombin gene mutations, assays

94
Q

How are haemophilia A/B inherited?

A

X linked

95
Q

what are haemophilia A and B deficient in to cause their symptoms?

A

Haemophilia A - FVIII deficiency

Haemophilia b - FIX deficiency

96
Q

How does haemophilia commonly present?

A

spontaneous, recurrent bleeding into joints and muscles

often presents when start to walk at 1 y/o -> arthralgia

97
Q

How might a neonate with haemophilia present?

A

intracranial haemorrhage
bleeding post circumcision
prolonged bleeding from heel stick/ venipuncture

98
Q

Outline the 2 major roles of VWF?

A
  1. facilitates platelet adhesion to damaged endothelium

2. carrier protein for FVIIIC

99
Q

What is VWF disease?

A

qualitative or quantitative deficiency in VWF causing defective platelet plug formation and deficiency of FVIIIC

100
Q

How is VWF disease inherited?

A

autosomal dominant

101
Q

What is the most common VWF disease?

A

type 1 - mild and asymptomatic

102
Q

How does VWF disease present?

A

bruising
excessive, prolonged bleeding after surgery
mucosal bleeding e.g. menorrhagia

103
Q

How is type 1 VWF disease treated?

A

DDAVP (desmopressin)

104
Q

Define mild, moderate and severe thrombocytopenia

A
mild = 50-150 
moderate = 20-50
severe = <20

PLATELET COUNT X10^9/L

105
Q

List the symptoms of thrombocytopenia

A

bruising
petechiae
purpura
mucosal bleeding e.g. bleeding from gums when brushing teeth

106
Q

What is commonest cause of thrombocytopenia in childhood?

A

Immune thrombocytopenia (ITP)

107
Q

How is ITP caused?

A

destruction of circulating platelets by anti platelet IgG autoantibodies

108
Q

How does ITP present?

A

present age 2-10 years with onset of 1-2 weeks after a viral infection

petechia, purpura and bruising

109
Q

Describe the prognosis of ITP

A

80% is acute, benign and self limiting

can be managed at home and don’t need treatment

110
Q

What is disseminated intravascular coagulation?

A

activation of the coagulation pathway leading to diffuse fibrin deposition in the micro-vasculature and consumption of coagulation factors and platelets causing microvascular thrombosis

111
Q

What can cause DIC?

A

severe sepsis *

shock e.g. trauma, burns

112
Q

When would you suspect a diagnosis of DIC?

A
thrombocytopenia
prolonged prothrombin time
prolonged APTT 
low fibrinogen
D-dimers
haemolytic anaemia
113
Q

How is DIC managed?

A

treat underlying cause!

intensive care - fresh frozen plasma, cryoprecipitate, platelets