Haematological/Oncological

Question 1

why is paeds pt more prone to iron deficiency anaemia?

Answer 1

iron is required for growth and so early childhood will require a large amount of iron - children might not eat enough iron to cover the iron requirement

Question 2

how can cow’s milk cause iron deficiency anaemia in children?

Answer 2

if whole cow’s milk is given too early - induce microscopic bleeding due to allergic reaction

Question 3

aetiology of iron - deficiency in children

Answer 3

dietary iron deficiency

whole cow’s milk allergy - leads to microscopic bleeding

infections - malaria, TB, HIV and helmith infection

inherited conditions eg sickle cell, diamond-blackfan syndrome, beta thalassaemia

Question 4

what is the range of HB in order to be considered to be anaemic in 1/2 - 5 yrs old

Answer 4

<11

Question 5

what is the range of HB in order to be considered to be anaemic in 5- 11 yrs old

Answer 5

< 11.5

Question 6

what is the range of HB in order to be considered to be anaemic in 12- 14 yrs old

Answer 6

< 12

Question 7

symptoms and signs of iron-deficiency of anaemia

Answer 7

can be asymptomatic

pallor 
fatigue 
SOB/IWOB 
Tachycardia 
gallop rhythm 
systolic flow murmur 
cardiomegaly and hepatomegaly

failure to thrive

affect growth

Question 8

things to consider asking during history taking ?

Answer 8

ethnic origin - african people - inc risk of sickle cell disease, malaria, diamond-blackfan syndrome, mediterranean people - inc risk of beta thalassemia

recent travel - infection and parasitic infection

Question 9

investigation for iron-deficiency anaemia

Answer 9

FBC - shows microcytic, hypochromic and poikilocytosis

ferritin - reduced
folate, B12 - for macrocytic anaemia
coombs test - haemolytic anaemia
blood film - to exclude other types of anaemia eg sickle cells

TFT - hypothyroidism

Question 10

management of iron deficiency anaemia

Answer 10

PO iron salts over 2-3 months - sytron (sodium feredetate)

iron transfusion

inc dietary intake

limit cow’s milk to 1 pint only

Question 11

how would you prevent iron deficiency anaemia?

Answer 11

breast milk somewhat protective - low iron

no unmodified cow’s milk in first year of life

Question 12

complications or IDA

Answer 12

cognitive impairment - cognitive and behavioural impairment, attention deficit

impaired muscle performance

developmental delay
high output heart failure
tran

Question 13

what is the most common solid brain tumor in children?

Answer 13

70-80% infratentorial (glial tumors, medulloblastoma) or mid-line (Germ Cell tumor, craniopharyngioma - tumor of the pituitary gland

Question 14

what are some clinical features for childhood brain tumour?

Answer 14

headache 
N+V 
visual distrubanec - double vision, papilloedema, squint 
hydorcephalus 
diabetes inspidius 
seizures 
gorwth restictions 
gait/co-ordination problems 
CN palsies

Question 15

ix for childhood brain tumor

Answer 15

urgent referral 48 hours if suspected brian or CNS tumours

MRI and CT - MRI preferred, better imaging for soft tissue but takes longer and may require sedation, so CT is more often used first

biopsy

others ix –> hearing test and pituitary function, CSF analysis

Question 16

what brain tumor could inc hCG and AFP in CSF suggest ?

Answer 16

pineal tumours

Question 17

mx of childhood brain tumours

Answer 17

urgent referral 
surgical resection 
radio
chem 
follow up - every 6 m for first 2 years

Question 18

what is haemophilia A

Answer 18

it is factor 8 deficiency - can be congenital or acquired

Question 19

what is haemophilia B

Answer 19

it is factor 9 deficiency - can be congenital or acquired

Question 20

how is haemophilia pass down genetically

Answer 20

X-linked recessive

Question 21

what is considered a mild hemophilia A or B

Answer 21

it is when factor 8/9 is between 5-40% of normal level

Question 22

what is considered a moderate hemophilia A or B

Answer 22

it is when factor 8/9 is between 1-5% of normal level

Question 23

what is considered a severe hemophilia A or B

Answer 23

it is when factor 8/9 is <1% of normal level

Question 24

what are the symptoms of haemophilia

Answer 24

mild - bleeding after surgery eg circumcision

moderate - bleeding after minor trauma –> after hell stick test

severe - spontaneous bleeding into joints/muscle or intra-cranial bleeding

Question 25

Investigation for haemophilia

Answer 25

• Activated partial Thromboplastin time (aPTT) – inc o use to test intrinsic pathway • Factor 8 assay or 9 – level dec • normal prothrombin time o use to test extrinsic and common pathway • plasma von Willebrand factor assay – normal to exclude VWF deficiency • other factors assay – to exclude problems elsewhere • FBC – normal, low after bleeding • LFT – factor deficit can be caused by liver disease • FHx or carrier – test baby’s gender from 9 wks, if male: plan safe delivery o can do amniocentesis or CVS to confirm diagnosis

Question 26

management of haemophilia

Answer 26

o Avoid NSAIDs and IM injections o Regular or prophylactic factor replacement therapy  to those with severe haemophilia  Haemophilia A every 48hrs, for haemophilia B 2x week  Implantable port (from 2yrs) at home o Minor bleeding – eg minor surgery/dential extraction  Pressure, elevation  IV desmopressin (0.3µg/kg/12hrs over 20min) to factor 8 o Major bleeding (haemarthrosis etc.)  Aim to factor 8 to 50% of normal o Life-threatening bleeding (e.g., airway obstructing)  Need 100% levels factor 8 (recombinant factor 8) IV desmopressin does not work for hemophilia B

Question 27

what is Henoch-Schoenlein Purpura

Answer 27

small vessel vasculitis - characterized by tissue deposition of IgA containing immune complexes within affected organs

Question 28

pathophysiology of Henoch-Schoenlein Purpura

Answer 28

small vessel leukocytoclastic (neurophil debris) vasculitis - characterized by tissue deposition of IgA containing immune complexes within affected organs - skin biopsy of lesions contains neutrophils and monocytes - fluorescence microscopy of kidney --> IgA, C3, fibrin mainly

Question 29

clinical features of Henoch-Scholenin Purpura

Answer 29

Tetrad = rash (palpable purpura and non-blanching, usually lower extremities), abdo pain, arthritis/arthralgia, glomerulonephritis other signs of renal disease - asymptomatic haematuria +/- proteinurua, if severe --> rapid progressive nephritis, nephrotic syndrome and renal failure scrotal pain or swelling headache seizures pulmonary haemorrhage

Question 30

investigation of HSP

Answer 30

urinalysis - assess renal involvment 24 hour urine for protein - raised due to renal involvement U&Es + creatinine --> kidney function serum IgA - maybe elevated coag - should be normal in HSP, used to exclude other causes skin biopsy - will show IgA involvement Renal biopsy - will show IgA involvement

Question 31

management. of HSP

Answer 31

mid + no renal involvment --> analgesia + supportive if severe oedema/severe abdo pain/scortal swelling --> prednisolone if kidney involvement --> prednisolone if rapid progressive nephritis --> IV methyprednisolone + cyclophosphamide/azathioprine if severe kidney damage --> renal transplant

Question 32

definition of leukaemia

Answer 32

• malignant proliferation of white cell precursors in bone marrow

Question 33

what is the most common childhood cancer

Answer 33

Acute lymophoblastic leukaemia

Question 34

pathology of leukaemia and lymphoma?

Answer 34

• WBC (T, B etc), RBC and platelets are all made form bone marrows in long bones • stem cells produce cell precursors which can either mature through lymphoid cell line  makes T and B cells or myeloid cell line which matures the other WBCs, RBCs and platelets etc. • in both leukaemia and lymphoma, genetics changes occurs in the precursors leading to malignant proliferations of cells. o leukaemia  2 types as can affect both lymphoid and myeloid cell lines  lymphoblastic or myelogenous o lymphoma  only affect lymphoid cell line  T and B cells

Question 35

clinical features of ALL?

Answer 35

* insidious onset * anorexia, irritability and lethargy * bone pain * mucous membrane bleeding * Petechiae * as bone marrow fails due to malignant tumours replacing normal stem cells  Pallor, fever, Petechiae * lymphadenopathy * splenomegaly

Question 36

Ix for leukaemia?

Answer 36

* FBC with differentials  inc WCC, dec Hb (anaemia), neurorpenia, * peripheral blood smear  thrombocytopenia +/- blast cells * U&Es  elevated Ca2+, K+, phosphorus, uric and lactic acid * LFT  liver can be affected * diagnosis  examination of bone marrow (bone marrow aspiration + trephine biopsy  replaced by leukaemic lymphoblasts

Question 37

mx for leukaemia

Answer 37

* chemo, prophylactic Radiotherapy to CNS and systemic radiotherapy for 2-3 yrs * prophylactic ABx + antiviral * prophylactic colony-stimulating factors (to stimulate neutrophiles) * follow for relapse  intensive retreatment

Question 38

which cells are affected in lymphoma?

Answer 38

B cells

Question 39

what is associated to inc risk for lymphoma?

Answer 39

* EBV infection associated to both | * NHL associated to other autoimmune disorders

Question 40

clinical features for lymphoma?

Answer 40

* most commonly present with painless cervical +/- supraclavicular lymphadenopathy in a young adult/ adolescence/late childhood * B symptoms  fever, night sweats, weight loss occurs in 30% of pts * often less common presentation  dyspnoea &cough (mediastina adenopathy), SVC obstruction, abdo pain

Question 41

ix for lymphoma

Answer 41

* FBC with differentials  low Hb and platelets, WCC can be high or low * LFT  can be affected * U&Es + creatinine  can be affected * ESR  elevated * CXR  if dyspnoea and maybe able to see mediastinum adenopathy * PET-CT scan  affected area will light up * contrast CT neck, chest and abdo/pelvis  may show enlarged lympho nodes and other sites of disease * excisional lymph node biopsy  Hodgkin’s cell (Reed-Sternberg cell) * bone marrow biopsy can be consider * for NHL  skin biopsy shows cutaneous T cells

Question 42

mx for lymphoma

Answer 42

* chemo +/- radiotherapy for both | * NHL  R-CHOP-21 (rituximab + cyclophosphamide+ doxorubicin + vincristine + prednisolone for 21 days)

Question 43

what is sickle cell anemia

Answer 43

a single autosomal recessive gene mutation in the beta chain of hemoglobin resulting in the production of sickle cell hemoglobin

Question 44

pathophysiology of sickle cell anaemia

Answer 44

in a hypoxic and acidotic environment, HbS becomes rigid and change to a crescent shape and so unable to carry O2 properly the deformed HbS can also occlude small vessels or stick to the endothelium of large vessels to slow blood flow

Question 45

which race is most commonly carrier of the sickle cell gene?

Answer 45

black population - approx 8% of the entire black population

Question 46

what are some clinical features of sickle cell anaemia

Answer 46

``` persistent pain in abdo, bone and chest dactylitis fever pneumonia-like symptoms chronic haemolytic anaemia visual floaters tachycardia, pallor, jaundice, tachypnoea, lethargy ``` can have acute sickle crisis

Question 47

ix for sickle cell anaemia

Answer 47

* DNA-based assay  replacement of both beta haemoglobin subunits with HbS = diagnostics * cellulose acetate electrophoresis  sickle cell anaemia 75-95% HbS * high performance liquid chromatography * FBC  anaemia * peripheral blood smear  presence of nucleated RBC, sickle-shaped cells and Howell-Jolly bodies

Question 48

Mx of sickle cell anaemia

Answer 48

• treatment of crisis/ acute chest syndrome  analgesia, Abx, antihistamine, warmth, fluids + O2 if needed o blood transfusion if life-threatening • ongoing management  management of pain (hydroxycarbamide to dec frequency of pain episode) , pneumococcal immunisation, prophylactic Penicillin,

Question 49

what is neuroblastoma

Answer 49

tumour develop from nerve cells in foetus (neuroblast) which affects the sympathetic nervous system

Question 50

which organ does neuroblastoma normally affect?

Answer 50

mostly in adrenal gland (due to sympathetic nervous system) but can start/spread to chest, abdo, spine, spinal cord

Question 51

clinical features of neuroblastoma

Answer 51

abdo mass, pain FTT bleeding hard, painless neck mass irritable, fever, dec appetite leg weakness/numbness (spinal cord involvement) if spread (50%) - bone pain, anaemia, weight loss, sweating, watery diarrhoea

Question 52

mx of nueroblastoma

Answer 52

chemo/radio surgery (unless at spinal core) stem cell transplant

Question 53

peak incidence of neuroblastoma

Answer 53

2 yrs old

Question 54

pathophysiology of thalassaemia

Answer 54

• inherited microcytic anaemia caused by mutations of the beta-globin gene leading to dec or absent synthesis of beta-globin  ineffective erythropoiesis.

Question 55

which races are most susceptible to thalassaemia

Answer 55

• ß-thalassaemia most common; Southeast Asian, middle east, Mediterranean backgrounds.

Question 56

clinical features of thalassaemia trait

Answer 56

• Heterozygous ß-thalassaemia = thalassaemia trait | o Mild anaemia or asymptomatic

Question 57

clinical features of thalassaemia major

Answer 57

• Homozygous thalassaemia o Severe haemolytic anaemia o Compensatory BM hyperplasia  characteristic overgrowth of facial + skull bones o Haemosiderosis (iron overload) + cardiomyopathy, DM + skin pigmentation due to repeated blood transfusion. o lethargy, abdo distension, FTT, low height and weight o pallor o spinal changes (iron overload osteopenia) o hepatosplenomegaly

Question 58

ix for thalassaemia

Answer 58

* Hypochromic, microcytic anaemia in thalassaemia trait may be confused with iron def. * Homozygous: severe hypochromic microcytic anaemia, bizarre fragmented poikilocytes and target cells. • Diagnosis of type: Hb electrophoresis. o ß-thalassaemia major: absence of HbA1, HbA2 + HbF

Question 59

mx of thalassaemia

Answer 59

• Thalassaemia trait requires no treatment. • Thalassemia major: regular blood transfusions to maintain Hb levels. o Haemosiderosis (iron overload) is inevitable consequence, can minimise by use of SC/IV infusions of chelating agent desferrioxamine. o Or PO iron chelating agents

Question 60

what is Wilm's tumour

Answer 60

it is nephroblastoma, most common renal malignancy in children peaks at 5 yrs

Question 61

presentation of Wilm's tumours

Answer 61

unilateral, painless, abdo mass, haematuria + lethargy, weight loss etc

Question 62

ix for Wil's tumour

Answer 62

FBC, U&E, LFT, LFT, coag, CT or MRO +/- biopsy

Question 63

Mx for Wilm's tumour

Answer 63

surgery +/- adjuvant chemo +/- radiotherapy