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3a paeds > Paeds Haematology + Oncology + Genetics > Flashcards

Paeds Haematology + Oncology + Genetics Flashcards

1
Q

what is Anaemia

A

low level of haemoglobin in the blood

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2
Q

what is Haemoglobin

A

protein found in red blood cells.

responsible for picking up oxygen in the lungs and transporting it to the cells of the body

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3
Q

what is MCV

A

mean cell volume (MCV)

This is the size of the red blood cells

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4
Q

what is normal Haemoglobin range at birth

A

150 – 235 grams/litre

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5
Q

what is normal Haemoglobin range after 12 yrs Female

A

120 – 160 grams/litre

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6
Q

what is normal Haemoglobin range after 12 yrs male

A

130 -160 grams/litre

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7
Q

what are causes of anaemia in infancy

A

Physiologic anaemia of infancy
Anaemia of prematurity
Blood loss
Haemolysis
Twin-twin transfusion

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8
Q

What are causes of Haemolysis in neonates

A

Haemolytic disease of the newborn (ABO or rhesus incompatibility)
Hereditary spherocytosis
G6PD deficiency

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9
Q

when does normal dip in haemoglobin occur in babies

A

2 to 6 months of age

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10
Q

why does haemoglobin dip in babies

A

High oxygen delivery to the tissues caused by the high haemoglobin levels at birth cause negative feedback.

EPO production suppressed by kidneys = reducded haemoglobin by BM

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11
Q

what casues Anaemia of Prematurity

A
  • Less time in utero receiving iron from the mother
  • Red blood cell creation cannot keep up with the rapid growth in the first few weeks
  • Reduced erythropoietin levels
  • Blood tests remove a significant portion of their circulating volume
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12
Q

what is Haemolytic Disease of the Newborn

A

incompatibility between the rhesus antigens on the surface of the red blood cells of the mother and fetus.

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13
Q

what is most important antigen within the rhesus blood group

A

rhesus D antigen

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14
Q

when does Haemolytic disease of the newborn occur (rhesus group)

A

if mother = rhesus D negative
and
baby = rhesus D positive

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15
Q

what does rhesus D positive mean

A

HAS the rhesus D antigen

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16
Q

what happens in subsecent pregancy in a mother who has been sensitised to rhesus D antigens

A
  1. mothers anti-D antibodies can cross the placenta into the fetus.
  2. these antibodies attach themselves to the red blood cells of the fetus
  3. causes the immune system of the fetus to attack its own red blood cells.
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17
Q

What can happen to baby in haemolytic disease of the newborn

A

haemolysis, causing anaemia and high bilirubin level

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18
Q

how can haemolytic disease of the newborn be tested

A

direct Coombs test (DCT)

Detects antibodies that are already attached to red blood cells

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19
Q

what are key causes of anaemia in older children

A

Iron deficiency anaemia secondary to dietary insufficiency.
Blood loss

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20
Q

what is common cause of aneamia worldwide eg developing countries

A

helminth infection, with roundworms, hookworms or whipworms.

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21
Q

how are helminth infection treated

A

single dose of mebendazole all members of household

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22
Q

what are subdivsions of aneamia

A

Microcytic anaemia (low MCV indicating small RBCs)
Normocytic anaemia (normal MCV indicating normal sized RBCs)
Macrocytic anaemia (large MCV indicating large RBCs)

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23
Q

what are causes of microcytic anaemia

A

TAILS

T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia

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24
Q

what are causes of normocytic anaemia

A

3 As and 2 Hs for normocytic anaemia:

A – Acute blood loss
A – Anaemia of Chronic Disease
A – Aplastic Anaemia
H – Haemolytic Anaemia
H – Hypothyroidism

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25
Q

what is Megaloblastic anaemia the result of

A

result of impaired DNA synthesis preventing the cell from dividing normally. Rather than dividing it keeps growing into a large, abnormal cell. This is caused by a vitamin deficiency.

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26
Q

what are causes of Megaloblastic anaemia

A

B12 deficiency
Folate deficiency

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27
Q

what are causes of Normoblastic macrocytic anaemia

A

Alcohol
Reticulocytosis (usually from haemolytic anaemia or blood loss)
Hypothyroidism
Liver disease
Drugs such as azathioprine

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28
Q

what are symptoms of anaemia

A

Tiredness
Shortness of breath
Headaches
Dizziness
Palpitations
Worsening of other conditions

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29
Q

what are symptoms specific to iron deficiency anaemia:

A

Pica
Hair loss

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30
Q

what are signs of anaemia

A

Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate

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31
Q

what are specific signs of iron deficiency

A

Koilonychia
Angular chelitis
Atrophic glossitis
Brittle hair and nails

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32
Q

what are initial investigations for anaemia

A
  • Full blood count for haemoglobin and MCV
  • Blood film
  • Reticulocyte count
  • Ferritin (low iron deficiency)
  • B12 and folate
  • LFT –> Bilirubin (raised in haemolysis)
  • Direct Coombs test (autoimmune haemolytic anaemia)
  • Intrinsic factor antibodies for pernicious anaemia
  • Haemoglobin electrophoresis for thalassaemia and sickle cell disease
  • coeliac disease serology (e.g., anti-tissue transglutaminase antibodies)
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33
Q

what do high Reticulocytes indicate

A

anaemia is due to haemolysis or blood loss.

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34
Q

name iron supplements

A

ferrous sulphate or ferrous fumarate.

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35
Q

what are SE of oral iron

A

constipation and black coloured stools

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36
Q

what are dietary sources of iron

A

red meat
beans
nuts

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37
Q

what is Thalassaemia

A

caused by a genetic defect in the protein chains that make up haemoglobin.

alpha-globin and beta-globin chains.

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38
Q

what is the inheritance pattern of Thalassaemia

A

autosomal recessive

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39
Q

what happens to RBC in Thalassaemia

A

red blood cells are more fragile and break down easily, causing haemolytic anaemia.

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40
Q

what are features of Thalassaemia

A

Microcytic anaemia (low mean corpuscular volume)
Fatigue
Pallor
Jaundice
Gallstones
Splenomegaly
Poor growth and development
Pronounced forehead and malar eminences

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41
Q

what happens to BM in Thalassaemia

A

bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia

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42
Q

how is thalassaemia diagnosed

A

Full blood count shows a microcytic anaemia.
Haemoglobin electrophoresis is used to diagnose globin abnormalities.
DNA testing can be used to look for the genetic abnormality

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43
Q

what can thalassaemia show on FBC

A

microcytic anaemia
Raised ferritin suggests iron overload.

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44
Q

what causes iron overload in thalassaemia

A

faulty creation of red blood cells
recurrent transfusions
increased absorption of iron in the gut in response to anaemia.

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45
Q

how is iron overload managed

A

limiting transfusions and performing iron chelation (deferoxamine)

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46
Q

what are effects of iron overload in thalassaemia

A

Fatigue
Liver cirrhosis
Infertility
Impotence
Heart failure
Arthritis
Diabetes
Osteoporosis and joint pain

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47
Q

what chromosome codes of alpha globin chains.

A

16

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48
Q

how is Alpha-Thalassaemia managed

A

Monitoring the full blood count
Monitoring for complications
Blood transfusions
Splenectomy may be performed
Bone marrow transplant can be curative

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49
Q

what chromosome codes of beta globin chains.

A

11

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50
Q

what is beta Thalassaemia Minor

A

carriers of an abnormally functioning beta globin gene.

one abnormal and one normal gene.

mild microcytic anaemia monitoring no Tx

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51
Q

what is beta Thalassaemia intermedia

A

two abnormal copies of the beta globin gene

two defective genes or one defective gene and one deletion gene

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52
Q

how is beta Thalassaemia intermedia managed

A

Patients require monitoring and occasional blood transfusions

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53
Q

what is beta Thalassaemia major

A

homozygous for the deletion genes. They have no functioning beta globin genes at all.

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54
Q

what does Thalassaemia major cause

A

Severe microcytic anaemia
Splenomegaly
Bone deformities

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55
Q

how is Thalassaemia managed

A

regular transfusions, iron chelation and splenectomy. Bone marrow transplant can potentially be curative.

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56
Q

what are abnormal features relating to bone changes in Thalassaemia major

A

Frontal bossing (prominent forehead)
Enlarged maxilla (prominent cheekbones)
Depressed nasal bridge (flat nose)
Protruding upper teeth

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57
Q

what is sickle cell anaemia

A

autosomal recessive condition that causes sickle (crescent) shaped red blood cells.

chromosome 11

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58
Q

how does sickle cell anaemia lead to haemolytic anaemia

A

abnormal shape makes the red blood cells more fragile and easily destroyed,

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59
Q

what is the pathophysiology of sickle cell anaemia

A

Patients with sickle-cell disease have an abnormal variant called haemoglobin S (HbS). HbS results in sickle-shaped red blood cells.

One abnormal copy of the gene results in sickle-cell trait. Patients with sickle-cell trait are usually asymptomatic

Two abnormal copies result in sickle-cell disease.

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60
Q

at what point in gestation does fetal haemoglobin (HbF) production decrease and adult haemoglobin (HbA) increase

A

32-36 weeks gestation

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61
Q

what what age is baby 50:50 fetal haemoglobin (HbF) and adult haemoglobin (HbA

A

at birth

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62
Q

what what age is very little fetal haemoglobin (HbF) produced and RBC contain entirely adult haemoglobin (HbA

A

6 months

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63
Q

how is sickle cell anaemia tested

A

newborn blood spot screening test at around five days of age.

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64
Q

what are complications of sickle cell aneamia

A

Anaemia
Increased risk of infection
Chronic kidney disease
Sickle cell crises
Acute chest syndrome
Stroke
Avascular necrosis in large joints such as the hip
Pulmonary hypertension
Gallstones
Priapism (painful and persistent penile erections)

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65
Q

what is a sickle cell crisis

A

a spectrum of acute exacerbations caused by sickle cell disease. These range from mild to life-threatening.

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66
Q

what can trigger a sickle cell crisis

A

spontaneous or triggered by dehydration, infection, stress or cold weather

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67
Q

how are sickle cell crisis managed

A

Low threshold for admission to hospital
Treating infections that may have triggered the crisis
Keep warm
Good hydration (IV fluids may be required)
Analgesia (NSAIDs should be avoided where there is renal impairment)

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68
Q

what is a Vaso-occlusive Crisis

A

known as painful crisis

caused by the sickle-shaped red blood cells clogging capillaries, causing distal ischaemia.

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69
Q

how does Vaso-occlusive Crisis present

A

pain and swelling in the hands or feet but can affect the chest, back, or other body area
fever

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70
Q

how is Priapism treated

A

aspirating blood from the penis

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71
Q

what is Splenic Sequestration Crisis

A

red blood cells blocking blood flow within the spleen.

enlarged and painful spleen

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72
Q

what can pooling of blood in spleen lead to

A

severe anaemia and hypovolaemic shock.

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73
Q

how can Splenic Sequestration Crisis be managed

A

Management is supportive, with blood transfusions and fluid resuscitation to treat anaemia and shock.

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74
Q

what are complications of Splenic Sequestration Crisis

A

splenic infarction, leading to hyposplenism and susceptibility to infections, particularly by encapsulated bacteria (e.g., Streptococcus pneumoniae and Haemophilus influenzae).

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75
Q

what is definitive management of Splenic Sequestration Crisis

A

Splenectomy

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76
Q

what is Aplastic Crisis

A

temporary absence of the creation of new red blood cells

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77
Q

what can trigger Aplastic Crisis

A

parvovirus B19

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78
Q

what is Acute Chest Syndrome

A

vessels supplying the lungs become clogged with red blood cells

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79
Q

what can trigger Acute Chest Syndrome

A

aso-occlusive crisis, fat embolism or infection

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80
Q

how does Acute Chest Syndrome present

A

fever, shortness of breath, chest pain, cough and hypoxia

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81
Q

what does Xray show for Acute Chest Syndrome

A

pulmonary infiltrates.

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82
Q

how is Acute Chest Syndrome managed

A

medical emergency

  • Analgesia
  • Good hydration (IV fluids may be required)
  • Antibiotics or antivirals for infection
  • Blood transfusions for anaemia
  • Incentive spirometry using a machine that encourages effective and deep breathing
  • Respiratory support
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83
Q

what are the general priciples of sickle cell management

A
  • Avoid triggers for crises, such as dehydration
  • Up-to-date vaccinations
  • Antibiotic prophylaxis to protect against infection, typically with penicillin V (phenoxymethylpenicillin)
  • Hydroxycarbamide (stimulates HbF)
  • Crizanlizumab
  • Blood transfusions for severe anaemia
  • Bone marrow transplant can be curative
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84
Q

what is Hydroxycarbamide

A

Antineoplastic

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85
Q

how does Hydroxycarbamide work in sickle cell

A

stimulating the production of fetal haemoglobin (HbF).

HbF does not sickle

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86
Q

what is Crizanlizumab

A

monoclonal antibody

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87
Q

how does Crizanlizumab work in sickle cell anaemia

A

targets P-selectin.

P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets.

It prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.

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88
Q

what is Disseminated intravascular coagulation

A

systemic activation of the clotting cascade, platelet consumption, and subsequent exhaustion of clotting factors that leads to widespread thrombosis and hemorrhage.

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89
Q

what would blood picture show for DIC

A

PT: Prolonged
APTT: prolonged
Bleeding time: prolonged
Platelet: low
fibrinogen: low
Fibrin degradation products = raised
D-dimer = ELEVATED

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90
Q

What causes DIC

A

sepsis
trauma
obstetric complications
malignancy
ALL

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91
Q

what is the critical mediator of DIC

A

release of a transmembrane glycoprotein (tissue factor =TF)

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92
Q

How is DIC investigated

A

D-dimer, blood film, coag screen

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93
Q

what does activated TF bind with

A

coagulation factors that then triggers the extrinsic pathway (factor 8) which triggers the intrinsic pathway (12 to 11 to 9) of coagulation.

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94
Q

what does the activation of the coagulation cascade yield

A

thrombin that converts fibrinogen to fibrin

fibrin = final product of hemostasis

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95
Q

what does the activation of the fibrinolytic system generate

A

plasmin, responsible for the lysis of fibrin clots

The breakdown of fibrinogen and fibrin results in polypeptides (fibrin degradation products)

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96
Q

what is Fanconi anemia

A

A hereditary form of aplastic anemia caused by an autosomal recessive resulting in impaired response to DNA damage

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97
Q

what does Fanconi anemia cause

A

bone marrow failure

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98
Q

how is DIC treated

A

fresh frozen plasma, platelet concentrate, antithrombin III, and heparin.

  • replace clotting factors
  • cryoprecipitate (Fresh frozen plasma to replace fibrinogen)
  • Platelet transfusion
    + RBC transfusion if bleeding
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99
Q

what is Haemophilia A

A

severe inherited bleeding disorders caused by a deficiency of factor VIII

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100
Q

what is Haemophilia B

A

severe inherited bleeding disorders caused by a deficiency of factor IX

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101
Q

what is the inheritance pattern of Haemophilia

A

X-Linked Recessive

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102
Q

how does Haemophilia present

A

bleed excessively in response to minor trauma and are at risk of spontaneous bleeding without any trauma

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103
Q

how can Haemophilia present in neonates

A

intracranial haemorrhage, haematomas and cord bleeding in neonates.

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104
Q

what is haemarthrosis

A

bleeding into joints

can lead to joint damage and deformity

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105
Q

what can bleeding into muscles cause

A

compartment syndrome

106
Q

how is Haemophilia investigated on blood tests

A

FBC
Clotting Studies
LFT
Factor VIII and IX assays
Von Willebrand factor antigen testing.

107
Q

how is Haemophilia investigated besides blood tests

A

US
Joint Xray
CT?MRI

108
Q

How does Haemophilia show on clotting studies

A

prolonged APTT (activated partial thromboplastin time)
bleeding time, thrombin time, prothrombin time normal

109
Q

what is difference between APTT and PT

A

PT is a measure of the extrinsic pathway, whereas aPTT is a measure of intrinsic pathway.

110
Q

how is Haemophilia managed

A

haemophilia A = coagulation factor VIII replaced
haemophilia B = coagulation factor IX replaced
by IV infusion

111
Q

what is a complication of supplementing clotting factors

A

formation of antibodies (called inhibitors) against the treatment, resulting in it becoming ineffective.

112
Q

what is Von Willebrand disease

A

MC inherited cause of abnormal and prolonged bleeding.

auto dom

deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF).

113
Q

what is VWF important in

A

important in platelet adhesion and aggregation in damaged vessels.

114
Q

what is type 1 VWF

A

partial deficiency of VWF and is the most common and mildest type

115
Q

what is type 2 VWF

A

reduced function of VWF

116
Q

what is type 3 VWF

A

complete deficiency of VWF and is the most rare and severe type

117
Q

how does VF disease present

A

history of unusually easy, prolonged or heavy bleeding:

Bleeding gums with brushing
Nosebleeds (epistaxis)
Easy bruising
Heavy menstrual bleeding (menorrhagia)
Heavy bleeding during and after surgical operations

FHx

118
Q

How does VWF present on clotting studies

A

APTT : can be normal or increases
PT : normal
APTT: normal or increased
Fibrinogen : normal
FBC : normal

119
Q

how is VWF diagnosed

A

FVIII assay
WVF antigen :

when VWF levels are <0.30 IU/ml in the context of a previous mucocutaneous bleeding history

120
Q

how is VWD managed

A

1st line = Desmopressin
tranexamic acid
Factor VIII plus von Willebrand factor infusion

121
Q

what does Desmopressin do

A

stimulates the release of vWF from endothelial cells

122
Q

what is Immune thrombocytopenia

A

idiopathic (spontaneous) thrombocytopenia (low platelet count) causing a purpuric rash (non-blanching rash).

spontaneously or trigger by viral infection

123
Q

what is Thrombocytopenia

A

low platelet count

124
Q

what is pathophysiology of ITP

A

type II hypersensitivity reaction. It is caused by the production of antibodies that target and destroy platelets.

glycoprotein IIb/IIIa

125
Q

how does ITP present

A

history of a recent viral illness URTI

Petechial/purpura Rash
Bleeding, for example from the gums, epistaxis or menorrhagia
Bruising

126
Q

what is diff between Petechiae and purpuric

A

Petechiae = <4 mm
Purpura = 4mm - 10mm

127
Q

how is ITP investigated

A

FBC
platelet = low
Blood film
BM biopsy

128
Q

what other causes of low platelet count DDx must be excluded in ITP

A

heparin induced thrombocytopenia and leukaemia.

129
Q

When are patients treated for ITP

A

a platelet count of <20-30,000/microL is a threshold for active treatment + symptoms

<10 = treatment regardless of symptoms

130
Q

How is ITP managed

A

Conservative management = 80% of patients

active management = 1st line = Corticosteroids (Prednisolone)

if steroids not working = IVIg and anti-D immunoglobulin

platelet transfusions = not curative bc antibodies against platelets

131
Q

what lifestyle education is given to ITP patients

A

Avoid contact sports
Avoid intramuscular injections and procedures such as lumbar punctures
Avoid NSAIDs, aspirin and blood thinning medications
Advice on managing nosebleeds
Seek help after any injury that may cause internal bleeding, for example car accidents or head injuries

132
Q

what are complications of ITP

A

Chronic ITP
Anaemia
Intracranial and subarachnoid haemorrhage
Gastrointestinal bleeding

133
Q

what is Leukaemia

A

cancer of a particular line of the stem cells in the bone marrow

causes unregulated production

134
Q

what are types of leukaemia that affect children from most to least common

A

Acute lymphoblastic leukaemia (ALL) is the most common in children
Acute myeloid leukaemia (AML) is the next most common
Chronic myeloid leukaemia (CML) is rare

135
Q

what age does ALL peak

A

2-5

136
Q

what age does AML peak

A

under 2

137
Q

what is pancytopenia

A

Low Red blood cells (anaemia),
Low White blood cells (leukopenia)
Low Platelets (thrombocytopenia)

138
Q

what is main environmental RF for leukaemia

A

Radiation exposure, for example with an abdominal xray during pregnancy

139
Q

what are conditions that predispose to a higher risk of developing leukaemia

A

Down’s syndrome
Kleinfelter syndrome
Noonan syndrome
Fanconi’s anaemia

140
Q

How does leukaemia present

A
  • anaemia: lethargy and pallor
  • neutropaenia: frequent or severe infections
  • thrombocytopenia: easy bruising, petechiae
  • Weight loss
  • Night sweats
  • Hepatosplenomegaly
  • Generalised lymphadenopathy
  • Unexplained or persistent bone or joint pain
141
Q

what is 1st line investigation for suspected leukaemia

A

FBC within 48 hours

142
Q

What additional investigations can be ordered for leukaemia

A

blood film -> for abnormal cells and inclusions.
Infection screen
Coagulation profile
Lactate dehydrogenase (LDH)
U&Es

143
Q

what investigation is needed for diagnosis of leukaemia

A

Bone marrow biopsy
Blood smear
Lymph node biopsy

144
Q

what further tests may be required for staging leukaemia

A

Chest xray
CT scan
Lumbar puncture
Genetic analysis and immunophenotyping of the abnormal cells

145
Q

where is Bone marrow biopsy taken

A

iliac crest.

aspiration (liquid) or trephine (solid)

146
Q

what is Acute Lymphoblastic Leukaemia

A

Malignancy of immature lymphocytes

causing acute proliferation of a single type of lymphocyte, usually B-lymphocytes

147
Q

what is Acute myeloid leukemia

A

Malignant proliferation of immature myeloblast cells

Production STOPS at myeloblast = no basophil, neutrophil and eosinophil

148
Q

What is Chronic myeloid leukaemia

A

Uncontrolled Overproduction of myeloid progenitor.

(Increased basophils, eosinophils and neutrophils
Excess RBC, platelets, WBC production)

149
Q

what cells are associated with CLL in blood film

A

Smear or smudge cells are ruptured white blood cells

150
Q

what are 3 phases of Chronic Myeloid Leukaemia

A

Chronic phase
Accelerated phase >15% of the blood film is occupied by blast cells
Blast phase >20% of the blood film is occupied by blast cells

151
Q

what is Chronic myeloid leukaemia associated with

A

Philadelphia chromosome.

152
Q

what is Philadelphia chromosome.

A

translocation of chromosome 9 and chromosome 22

codes for an abnormal tyrosine kinase enzyme

153
Q

how is Philadelphia translocation investigated

A

Cytogenetics - karotyping

154
Q

what is threshold of diagnosis for Acute lymphoblastic leukaemia

A

when lymphoblasts occupy >20% of bone marrow.

155
Q

what is threshold of diagnosis for Acute myeloid leukaemia

A

≥ 20% myeloblasts in the bone marrow confirm the diagnosis

156
Q

What does AML show on blood film

A

high proportion of blast cells
Auer rods in cytoplasm of blast cells

157
Q

what are myeloid cells

A

neutrophils, eosinophils and basophils

158
Q

What medical teams will be involved in MDT of Leukaemia

A

oncology and haematology

159
Q

how is Leukaemia managed

A

primarily treated with chemotherapy
Radiotherapy
Bone marrow transplant

Surgery

160
Q

what targeted therapies can be used (mainly in CLL)

A

Tyrosine kinase inhibitors (e.g., ibrutinib)
Monoclonal antibodies (e.g., rituximab, which targets B-cells)

161
Q

what are complications of chemo

A

Failure to treat cancer
Stunted growth and development in children
Infections due to immunosuppression
Neurotoxicity
Infertility
Secondary malignancy
Cardiotoxicity (heart damage)
Tumour lysis syndrome

162
Q

what are poor prognosis factors for ALL

A

age < 2 years or > 10 years
WBC > 20 * 109/l at diagnosis
T or B cell surface markers
non-Caucasian
male sex

163
Q

what is Tumour Lysis Syndrome

A

chemicals released when cells are destroyed by chemotherapy

164
Q

what does Tumour Lysis Syndrome result in

A

High uric acid –> AKI
High potassium (hyperkalaemia) –> cardiac arrhythmias
High phosphate
Low calcium (as a result of high phosphate)

165
Q

What medication can prevent tumor lysis syndrome

A

Allopurinol

166
Q

what are meningiomas

A

benign brain tumors

167
Q

what are glioblastomas

A

malignant brain tumors

168
Q

how do brain tumors present

A

progressive focal neurological symptoms depending on the location of the lesion.
raised intracranial pressure (intracranial hypertension).

169
Q

what is cushing triad

A

signs of raised ICP

widened pulse pressure (increasing systolic, decreasing diastolic) bradycardia, and irregular respirations

170
Q

what are causes of raised ICP

A

Brain tumours
Intracranial haemorrhage
Idiopathic intracranial hypertension
Abscesses or infection

171
Q

what features may indicate intracranial hypertension

A

Papilloedema on fundoscopy
Constant headache
Nocturnal headache
headache worse on waking
headache worse on coughing, straining or bending forward
Vomiting

Altered mental state
Visual field defects
Seizures (particularly partial seizures)
Unilateral ptosis (drooping upper eyelid)
Third and sixth nerve palsies

172
Q

what is the sheath around the optic nerve connected to

A

subarachnoid space.

raised cerebrospinal fluid (CSF) pressure flows into the optic nerve sheath

173
Q

how can Papilloedema be seen on fundoscopy

A

Blurring of the optic disc margin
Elevated optic disc
Paton’s lines
Loss of venous pulsation

174
Q

what are Gliomas

A

tumours of the glial cells in the brain or spinal cord.

175
Q

what are types of Gliomas most to least malignant

A

astrocytes, oligodendrocytes and ependymal cells.

176
Q

what are Meningiomas

A

tumours growing from the cells of the meninges

177
Q

what tumors are spread to brain

A

Lung
Breast
Renal cell carcinoma
Melanoma

178
Q

what visual defect are associated with Pituitary tumours

A

bitemporal hemianopia
loss of the outer half of the visual fields in both eyes.

pressing on optic chiasm

179
Q

what hormone abnormalities can Pituitary Tumours cause

A

Acromegaly (excessive growth hormone)
Hyperprolactinaemia (excessive prolactin)
Cushing’s disease (excessive ACTH and cortisol)
Thyrotoxicosis (excessive TSH and thyroid hormone)

180
Q

how are Pituitary Tumours managed

A

Trans-sphenoidal surgery (through the nose and sphenoid bone)
Radiotherapy
Bromocriptine to block excess prolactin
Somatostatin analogues (e.g., octreotide) to block excess growth hormone

181
Q

what is 1st line investigaton for brain tumor

A

MRI

182
Q

what investigation is needed for definitive diagnosis for brain tumor

A

Biopsy

183
Q

how are brain tumors managed

A

Surgery
Chemotherapy
Radiotherapy
Palliative care

184
Q

what is neuroblastoma

A

top 5 malignancy in children

catecholamine secreting cancer

rises from neural crest tissue of the adrenal medulla

185
Q

what do neural crest cells differentiate to form

A

sympathetic chain and the adrenal glands in the lumbar areas

186
Q

where does Neuroblastoma spread to

A

bones, liver and skin, through haematological and lymphatic spread.

187
Q

what conditions are associated with Neuroblastoma

A

Turner’s syndrome
Hirschsprung’s disease
Congenital central hypoventilation syndrome
Neurofibromatosis type 1

188
Q

how does Neuroblastoma present

A

abdominal mass
pallor, weight loss
bone pain, limp
hepatomegaly
paraplegia
proptosis

189
Q

how is Neuroblastoma investigated

A
  • Urine catecholamines
  • FBC - pancytopenia
  • U&E - tumor lysis syndrome, creatine and urea up
  • LFT - elevated
  • serum catecholamine - high
  • US then MRI or CT
190
Q

what are tumor markers for neuroblastoma

A

vanillylmandelic acid (VMA) and homovanillic acid (HVA)

the breakdown products of noradrenaline and adrenaline.

191
Q

what is difference between Neuroblastoma and wilms tumor

A

Wilms’ tumour is often accompanied by haematuria and the presence of congenital overgrowth syndrom

wilms = claw signs on scans

192
Q

how is Neuroblastoma managed

A

1st line = surgery +/- chemo +/- radiation

+/- BM transplant

Isotretinoin = maintenance therapy

193
Q

what is Wilms’ tumour

A

nephroblastoma
tumour affecting the kidney in children, typically under the age of 5 years.

194
Q

how does Wilms’ tumour present

A

mass in the abdomen
painless haematuria
flank pain
other features: anorexia, fever
unilateral in 95% of cases

Lethargy
Fever
Hypertension
Weight loss

195
Q

how is Wilms’ tumour investigated

A

abdo mass ?wilms –> arrange paediatric review with 48 hours

1st = US
MRI or CT = claw sign (a renal mass with parenchyma stretching around the tumour)
biopsy =

196
Q

how is Wilms’ tumour managed

A

nephrectomy
chemotherapy
radiotherapy if advanced disease

197
Q

what is Retinoblastoma

A

malignant tumour of the retina

average age of diagnosis is 18 months.

198
Q

what causes retinoblastoma

A

autosomal dominant
caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13

199
Q

how does retinoblastoma present

A
  • absence of red-reflex, replaced by a white pupil (leukocoria)
  • strabismus
  • eye inflammation and Redness
  • vision loss
200
Q

what is first line investigation for retinoblastoma

A
  • Dilated fundus examination - dilating the pupil & using an ophthalmoscope
  • Ultrasound B-scan
201
Q

what is definitive investigation for retinoblastoma

A

MRI

202
Q

how is retinoblastoma managed

A

chemo
enucleation - eye removal
Orbital Exenteration - eye, muscle and fat removal
radiotherapy
chemo + stem cell rescue

203
Q

what is Osteosarcoma

A

bone cancer.
adolescents and younger adults aged 10 – 20 year
40% occuring in the femur, 20% in the tibia, and 10% in the humerus

204
Q

how does Osteosarcoma present

A

persistent bone pain, particularly worse at night time.

bone swelling, a palpable mass and restricted joint movements.

205
Q

how is Osteosarcoma investigated

A

urgent direct access xray within 48 hours for children presenting with unexplained bone pain or swelling

if xray suggestive = specialist assessment within 48 hours.

206
Q

how does Osteosarcoma present on xray

A

Codman triangle (from periosteal elevation) and ‘sunburst’ pattern

poorly defined lesion in the bone, with destruction of the normal bone and a “fluffy” appearance

“sun-burst” appearance = periosteal reaction (irritation of the lining of the bone)

207
Q

what may be raised in blood test for Osteosarcoma

A

alkaline phosphatase (ALP).

208
Q

how is Osteosarcoma further investigated

A

CT scan
MRI scan
Bone scan
PET scan
Bone biopsy

209
Q

how is Osteosarcoma managed

A

surgical resection of the lesion, often with a limb amputation.
+ chemo

210
Q

who could be part of MDT for Osteosarcoma

A

Paediatric oncologists and surgeons
Specialist nurses
Physiotherapy
Occupational therapy
Psychology
Dietician
Prosthetics and orthotics
Social services

211
Q

what are main complications of Osteosarcoma

A

pathological bone fractures and metastasis.

212
Q

what is most common location for sarcoma to metastasise to

A

lungs

213
Q

name 3 types of bone sarcomas

A

Osteosarcoma
Chondrosarcoma
Ewing’s sarcoma

214
Q

What is Klinefelter syndrome

A

male has an additional X chromosome

47 XXY

215
Q

what are features of Klinefelter syndrome

A

Usually normal until puberty

  • Taller height
  • Wider hips
  • Gynaecomastia
  • Weaker muscles
  • Small testicles
  • Reduced libido
  • Shyness
  • Infertility
  • Subtle learning difficulties (particularly affecting speech and language)
216
Q

what treatment can be used for Klinefelter

A

Testosterone injections improve many of the symptoms
Advanced IVF techniques have the potential to allow fertility
Breast reduction surgery for cosmetic purposes

217
Q

What is MDT management for Klinefelter

A

Speech and language therapy to improve speech and language
Occupational therapy to assist in day to day tasks
Physiotherapy to strengthen muscles and joints
Educational support where required for dyslexia and other learning difficulties

218
Q

what is prognosis for Klinefelter

A

close to normal

219
Q

what does Klinefelter increase risk of

A

Breast cancer compared with other males (but still less than females)
Osteoporosis
Diabetes
Anxiety and depression

220
Q

what would sex hormone investigation show for Klinefelter

A

elevated gonadotrophin levels but low testosterone

221
Q

how are chromosomal abnormalities diagosed

A

karyotype

222
Q

What is turners syndrome

A

female has a single X chromosome, making them 45 XO

223
Q

what is turners syndrome prognosis

A

close to normal

224
Q

what are features of turners syndrome

A

short stature
shield chest, widely spaced nipples
webbed neck
primary amenorrhoea
High arching palate

Cubitus valgus

225
Q

what is Cubitus valgus

A

deviation of the forearm from the body when extended

226
Q

what heart condition is turners associated with

A

bicuspid aortic valve (15%), coarctation of the aorta (5-10%)

227
Q

what is turners syndrome associated with

A

Recurrent otitis media
Recurrent urinary tract infections
Coarctation of the aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities

228
Q

How is turners syndrome managed

A

Growth hormone therapy
Oestrogen and progesterone replacement
Fertility treatment

229
Q

What is downs syndrome

A

three copies of chromosome 21

230
Q

what are Dysmorphic Features of downs syndrome

A

Hypotonia
Brachycephaly
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease

231
Q

What are complications of downs syndrome

A
  • Subfertility
  • learning difficulties
  • short stature
  • repeated respiratory infections (+hearing impairment from glue ear)
  • acute lymphoblastic leukaemia
  • hypothyroidism
  • Alzheimer’s disease
  • atlantoaxial instabilit
232
Q

what is most common heart defect associated with Downs

A

atrioventricular septal canal defects (40%)

then VSD (30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)

233
Q

how are babies screened antenatally for downs

A

Combined Test - 1st line and most accurate

234
Q

what is the combined test

A

performed 11-14 weeks

↑ HCG, ↓ PAPP-A, thickened nuchal translucency

235
Q

what is quadruple test

A

between 15 - 20 weeks
maternal blood tests

  • alpha-fetoprotein ↓
  • unconjugated oestriol ↓
  • human chorionic gonadotrophin ↑
  • inhibin A ↑
236
Q

what happens to women with Risk score greater than 1 in 150 for down syndrome

A

amniocentesis or chorionic villus sampling.

sample of the fetal cells, which then undergo karyotyping

237
Q

What is Chorionic villus sampling (CVS)

A

ultrasound guided biopsy of the placental tissue

11-13th weeks

238
Q

what is Amniocentesis

A

ultrasound guided aspiration of some amniotic fluid using a needle and syringe

> 15 weeks

239
Q

what is an alternative to invasive tests for downs

A

Non-invasive prenatal testing (NIPT)

240
Q

Who is involved in MDT team for Downs syndrome

A

Occupational therapy
Speech and language therapy
Physiotherapy
Dietician
Paediatrician
GP
Health visitors
Cardiologist for congenital heart disease
ENT specialist for ear problems
Audiologist for hearing aids
Optician for glasses
Social services for social care and benefits
Additional support with educational needs
Charities such as the Down’s Syndrome Association

241
Q

what are routine follow up investigations for downs

A

Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks

242
Q

whats the prognosis for downs

A

60 years.

243
Q

What is Fragile X Syndrome

A

mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome.

244
Q

what si the function of the fragile X mental retardation protein

A

role in cognitive development in the brain.

245
Q

how does fragile X present

A

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

246
Q

how is fragile X managed

A

Life expectancy similar

multidisciplinary team to support the learning disability, manage autism and ADHD and treat seizures

247
Q

what is Angelman syndrome

A

caused by loss of function of the UBE3A gene from the mother

chromosome 15

248
Q

what are features for angelman

A

key: unusual fascination with water, happy demeanour and widely spaced teeth.

  • Delayed development and learning disability
  • Severe delay or absence of speech development
  • Coordination and balance problems (ataxia)
  • Inappropriate laughter
  • Hand flapping
  • Abnormal sleep patterns
  • Epilepsy
  • Attention-deficit hyperactivity disorder
  • Dysmorphic features
  • Microcephaly
  • Fair skin, light hair and blue eyes
249
Q

who is involved in management for angelman

A

Parental education
Social services and support
Educational support
Physiotherapy
Occupational therapy
Psychology
CAMHS
Anti-epileptic medication where required

250
Q

what is Prader-Willi Syndrome

A

caused by the loss of functional genes on the proximal arm of the chromosome 15 inherited from the father

251
Q

what are features of Prader-Willi Syndrome

A

Constant insatiable hunger that leads to obesity
Hypotonia
Hypogonadism
Learning disability

252
Q

how is Prader-Willi Syndrome managed

A

Carefully limiting access to food
Growth hormone –> improving muscle development and body composition.

Dieticians play a very important role
Education support
Social workers
Psychologists or psychiatrists
Physiotherapists
Occupational therapists

253
Q

what is Noonan Syndrome

A

number of different genes affected
majority are inherited in an autosomal dominant way

thought to be defect in a gene on chromosome 12

254
Q

what are features of Noonan Syndrome

A

Hypertelorism (wide space between the eyes)
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

255
Q

what conditions are associated with Noonan syndrome

A

Increased risk of leukaemia and neuroblastoma
Congenital heart disease, particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD
Cryptorchidism
Learning disability
Bleeding disorders
Lymphoedema

256
Q

what is William Syndrome

A

deletion of genetic material on one copy of chromosome 7

result of a random deletion around conception

257
Q

what are features of williams syndrome

A

very sociable personality, starburst eyes and wide mouth with a big smile.
Short

258
Q

what are conditions associated with williams syndrome

A

Supravalvular aortic stenosis (narrowing just above the aortic valve)
Attention-deficit hyperactivity disorder
Hypertension
Hypercalcaemia
Learning difficulties

259
Q

what is Patau syndrome

A

trisomy 13.

260
Q

how does Patau syndrome present

A

rocker bottom feet
soles of the feet are convex

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

261
Q

what is edwards syndrome

A

trisomy 18

rocker bottom feet
Micrognathia
Low-set ears
Overlapping of fingers

262
Q

what is Pierre-Robin syndrome

A

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

3a paeds (12 decks)

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