Hematology Mcqs

Question: 1 of 100 / Overall score: 100%
In a patient with a haemolytic anaemia, e.g. hereditary spherocytosis:
True / False
The level of bilirubin (normal less than 17mmol/l) is likely to be between 40-
100mmol/l Correct
The bilirubin will be fat soluble Correct
The diagnosis will be confirmed by the presence of bilirubin in the urine

Correct
the patient may have an increased reticulocyte count Correct
Therapy with iron, e.g. Ferrous Sulphate solution is indicated to correct the
anaemia Correct
The bilirubin is likely to be raised secondary to chronic haemolysis. The bilirubin will be
unconjugated and therefore fat soluble. The diagnosis is confirmed by an osmotic fragility test
which causes cell lysis. Increased reticulocyte count results from haemolysis. The treatment is
splenectomy to prevent destruction of red cells by the spleen and restore red cell survival.
Read more about Haemolytic anaemia on e-Medicine...
A 2-year-old child presents with a palpable abdominal mass. The following renal and perirenal
pathologies should be considered:
True / False
Autosomal recessive polycystic disease Correct
Tuberous sclerosis Correct
Wilm's tumour Correct
Neuroblastoma Correct
Autosomal dominant polycystic kidney disease Correct
1
It is essential that all abdominal masses are promptly investigated using an ultrasound scan.
Causes of palpable kidneys include:
Unilateral: multicystic kidneys, compensatory hypertrophy, obstructive

hydronephrosis, Wilm's tumour, renal vein thrombosis.
Bilateral: autosomal recessive polycystic disease, autosomal dominant polycystic
disease (presents in adulthood), tuberous sclerosis, renal vein thrombosis.
Question: 3 of 100 / Overall

score: 93%
The common variant of Von
Willebrands disease is usually
characterised by:
True / False
Purpura Incorrect answer selected
Reduced Factor VIII level Correct
Haemarthrosis Correct
Thrombocytopenia Correct
Prolongation of bleeding time Correct
There are many varieties of von Willebrand's disease with subtle variations between
them. It is typically characterised by a lifelong tendency toward easy bruising,
frequent epistaxis, and menorrhagia. Purpura are characteristic secondary to
abnormal platelet function. vWF deficiency causes prolonged APTT. Haemarthrosis is
not associated but epistaxis, post operative bleeding and menorrhagia are seen. The
platelet count is normal, but there is prolonged bleeding time and defective
aggregation.
Retinoblastoma:
True / False
Occurs sporadically and in a familial form. Correct
Does not respond to chemotherapy or radiotherapy. Correct
2
Can occur as a primary tumour in the pineal gland. Correct
Can be inherited as an autosomal dominant condition with variable

penetrance. Correct
Is fatal in 50% of cases in the U.K. using current treatment protocols.

Correct
Retinoblastoma is the commonest primary malignant intraoccular tumour of childhood

occurring in 1 in 18,000 infants. Both hereditary and non-hereditary patterns occur. It is
bilateral in 30%. Clinical manifestations include:
Leukcoria: white pupillary reflex.

Strabismus.
Other: pseudohypopyon (tumour cells layered inferiorly in front of the iris), hyphema
(blood lead in front of the iris), vitreous haemorrhage, or signs of orbital cellulitis.
The retinoblastoma gene is a recessive suppressor gene located on chromosome 13. Most
tumours confined to the eye can be cured by resection. Prognosis is poor when optic nerve
extension has occurred
Leukaemia in childhood:
True / False
May present with bone pain Correct
Commoner in adolescence than the toddler age group Correct
Strong familial incidence Correct
High initial White blood cell count is a poor prognostic sign Correct
Myeloid leukaemia is commoner than lymphoblastic leukaemia Correct
Leukaemia classically causes bone pain due to marrow infiltration. The incidence is lower in
adolescence and the disease carries a more unfavourable prognosis. There is no familial
tendency. High blast count is a poor prognostic sign. Acute lymphoblastic leukaemia is the
most common malignant haematological disorder in children.
3
Pulmonary eosinophilia is a recognised feature of:
True / False
Churg-Strauss Syndrome Correct
Allergic bronchopulmonary aspergillosis Correct
Malaria Incorrect answer selected
Hodgkin's lymphoma Incorrect answer selected
Polyarteritis nodosa Correct
Loeffler's Syndrome is characterised by widespread transitory pulmonary infiltrations which

may resemble miliary TB, and by a blood eosinophil level as high as 70%. There is usually
paroxysmal cough, breathlessness, pleurisy, and little or no fever. There may be
hepatosplenomegaly especially in infants, and local pneumonic consolidation may occur.
Possible underlying causes include:

Drugs (antibiotics, crack cocaine).
Helminthic infections: toxocara, ascaris, and strongyloides.
The differential diagnosis includes:

Vasculidities (eosinophilic pneumonia plus polyarteritis).
Asthma, including allergic bronchopulmonary aspergillosis.
Filaraisis.
Chronic eosinophilic pneumonia.

score: 103%
A five month old boy was noticed to be
pale but otherwise well and gaining
weight. On examination of the
abdomen, there was 2cm
hepatomegaly and the spleen tip was
palpable. The following investigations
were reported:
Haemoglobin 8 g/dL (12-16)
Reticulocyte Count 6% (0.5-2.4)
4
White cell count 10 x109/L (4-11 x109)
Neutrophils 53%
Lymphocytes 47%

Which of the following diagnoses are
compatible with the signs, symptoms
and investigations?
True / False
Iron deficiency anaemia Correct
Beta thalassaemia major Correct
Glucose-6-Phosphate Dehydrogenase deficiency Correct
Chloramphenicol toxicity Correct
Gastro-intestinal bleeding Correct
The most likely diagnosis is Beta Thalassaemia major as there is evidence of anaemia
and extramedullary haemopoesis with hepatosplenomegaly. Iron deficiency anaemia
and Gastrointestinal bleeding would not cause hepatosplenomegaly. Chloramphenicol
toxicity would cause complete bone marrow suppression. Glucose-6-Phosphate
Dehdyrogenase deficiency would cause episodes of haemolysis, ie jaundice,
abdominal pain and dark urine.
A reduction in the absolute neutrophil count is associated with:
True / False
HIV infection Correct
Preeclampsia in the mother Incorrect answer selected
5
Dermatomyositis Incorrect answer selected
Diabetic ketoacidosis Correct
Pernicious anaemia Incorrect answer selected
Neutropenias may be transient or chronic.
Transient causes include:

Viral or bacterial infections (including neonatal sepsis)
Drugs
Malnutrition
In the neonate it may be associated with maternal hypertension.
Chronic:
Immune related: benign childhood autoimmune, associated with primary immune
disease, neonatal alloimmune (isoimmune), and neonatal/maternal autoimmune.
Congenital: familial benign, Chediak-Higashi Syndrome, glycogen storage disease type
1b, Shwachman-Diamond Syndrome.
Other: related to cancer or HIV infection
Serum ferritin:
True / False
Is raised in acute rheumatoid arthritis. Incorrect answer selected
Stores 95% of the body's iron. Incorrect answer selected
Is a useful measurement of iron storage in the body. Correct
Has a low false negative rate in the diagnosis of iron deficiency. Correct
Is increased in hepatoma. Correct
Iron is an essential component in the structure of haemoglobin and myoglobin for oxygen and
carbon dioxide transport. It is also found in oxidative enzymes, cytochrome C and catalase. It
is absorbed in the ferrous form according to body need, aided by gastric juice and Vitamin C,
6
and hindered by fibre, phytic acid, and steatorrhoea (about 90% of intake is excreted in the
stool). It is transported in the plasma in the ferric state bound to transferring, and is stored in
the liver, spleen, bone marrow and kidney as ferritin and haemosiderin. It is conserved and
reused with minimal losses in the urine and sweat.
In progressive iron deficiency, a sequence of biochemical and haematological events occurs:
First: Tissue iron stores (bone marrow haemosiderin) disappear, and serum ferritin
drops. Ferritin is a relatively accurate estimate of body iron stores in the absence of
inflammatory disease.
Next: Serum iron drops, and TIBC increases, and free erythrocyte protoporphyrins
begin to accumulate.
Later: Red cells become smaller, and hypochromic with a drop in MCH and MCV. There
may be poikilocytosis and increased red cell distribution width. Reticulocyte count may be
normal or elevated, with nucleated red cells seen on the peripheral film. There may be
thrombocytosis. The bone marrow is hypercellular with erythroid hyperplasia. Following
iron therapy there is replacement of intracellular iron enzymes and a subjective
improvement within 24 hours. Within 48 hours there is a bone marrow response, with
reticulocytosis evident from 2 days, and peaking at about 7 days. The haemoglobin level
begins to increase from day 4 to day 30, and 3 months are required for complete repletion
of iron stores.
In most cases of suspected iron deficiency a low Hb plus microcytosis with response to iron
therapy obviates confirms the diagnosis. A low level of ferritin will usually be present in iron
deficiency; however, an important caveat in interpreting the result is that it may be spuriously
elevated because of inter current infection or inflammation. It therefore has many false
negatives
The following are recognised complications of treatment of acute lymphoblastic leukaemia

(ALL):
True / False
Disproportionate short stature Correct
Renal failure Correct
Haemolytic-uraemic syndrome Incorrect answer selected
Neuropathy Correct
Development of secondary non-Hodgkin's lymphoma Correct
Chemotherapy causes a range of side effects including:
Bone marrow suppression: anaemia, thrombocytopenia, neutropenia.
7
Immunosuppression: coagulase negative Staphylococcal infection of central venous
catheters, disseminated fungal infections (Aspergillosis, Candidiasis) and pneumocysitis
carinii pneumonia. Measles and varicella may be life threatening, and gram negative
septicaemias may present with fever at the time of neutropenia.
GI: anorexia, nausea and vomiting, and gut mucosal damage may result in
undernutrition, and increased susceptibility to gram negative infections.
Other: alopecia, cardiotoxicity (Doxorubicin), renal failure and deafness (Cisplatin),

haemorrhagic cystitis (Cyclophosphamide), neuropathy (Vincristine).
Long term problems include:
Specific organ dysfunction, e.g. nephrectomy for Wilm's tumour, toxicity from
chemotherapy.
Growth/endocrine problems: growth hormone deficiency from pituitary irradiation,
bone growth retardation at sites of irradiation. Craniospinal irradiation may result in
disproportionate short stature with relatively short trunk.
Infertility: from gonadal irradiation or alkalating agent chemotherapy such as

Cyclophosphamide or Iphosphamide.
Neuro-psychological problems: cranial irradiation particularly below the age of 5, or

brain surgery for intracranial tumour may cause these. Prolonged hospitalisation may also
contribute.
Second malignancy: secondary to irradiation or alkalating agent chemotherapy.
Social/educational disadvantage: chronic ill health and absence from school may
diminish school performance.

score: 87%
Chronic intravascular haemolysis is
associated with:
True / False
Splenomegaly. Correct
Haemosiderinuria. Correct
Increased incidence of gallstones.. Correct
Reduced transferrin levels. Incorrect answer selected
Increased serum haptoglobins. Incorrect answer selected
8
Haemolysis is defined as the premature destruction of red cells. If the rate of
destruction exceeds the capacity of the marrow to produce red cells then anaemia
results. The normal red cell survival is 120 days, and 1% of red cells are removed per
day and replaced by the marrow. During haemolysis, the red cell survival is
shortened, and there is increased marrow activity (raised reticulocyte count). Marrow
output can increase 2-3 fold acutely, and 6-8 fold in long-standing cases. In chronic
haemolytic anaemia, erythroid hyperplasia may be so extensive that the medullary
spaces may expand at the expense of cortical bones (particularly skull and long
bones). Intravascular haemolysis increases circulating haemoglobin which binds to
haptoglobin reducing the circulating levels of it. There is an increase in urine
haemoglobin and haemosiderin. Increased bilirubin production from heme results in
increased faecal urobilinogin, which is reabsorbed and excreted in the urine.
The following are risk factors for the development of acute lymphoblastic leukaemia (ALL):
True / False
Close proximity of housing to high voltage power lines Incorrect answer

selected
Paternal exposure to radiation before conception (The Gardner Hypothesis)

Incorrect answer selected
Down's Syndrome Correct
Turner's Syndrome Correct
Increased exposure to infection caused by mixing of previously distinct

populations (The Kinlen Hypothesis) Incorrect answer selected
The aetiology of cancer in childhood is thought mainly to be related to:
1. Environmental causes
Ionising radiation (nuclear; secondary tumours after TBI; possibly in utero X rays)
UV radiation (skin cancers, greatly increased risk in xeroderma pigmentosum)
Drugs (in utero diethylstilboestrol, immunosuppressives and chemotherapy)
Diet (high fat intake and obesity are associated with breast, colon and uterine cancer)
Syndromes (Down's, Wilm's, Xeroderma pigmentosum
The Gardner and Klinen hypotheses are not yet widely accepted. Concern has been expressed
about power lines, but again no proof exists of an association.
2. Viruses
9
RNA (HTLV-1)
DNA (EBV)
Papova
3. Syndromes
Down's
Wilm's
Xeroderma

score: 83%
Leukaemia in childhood:
True / False
Has a peak incidence in school age child Incorrect answer selected
Is associated with the best prognosis in the 10-12 years age group Correct
Can involve sites outside the bone marrow Correct
Treatment for 5 years is essential Correct
Relapse on treatment is a bad prognostic sign Correct
The peak incidence is 2 years in females, and 3 years in males. The prognosis is poor
if the age is less than 1 year or greater than 9 years. Sites of involvement may
include testes and meninges, which carry a poor prognosis.
Treatment is usually for 2 years in girls and 3 years in boys. Relapse on treatment
and male sex carry a poorer prognosis.
Leukaemia in childhood...
Childhood Non-Hodgkin's Lymphoma:
True / False
Is usually a high grade malignancy. Incorrect answer selected
Can double in size in a few days. Correct
10
Can be complicated by tumour lysis syndrome. Correct
Can be cured in about 50% of children using current treatment strategies.

Can be associated with Epstein Barr virus infection. Correct
A firm distinction between solid and haematological lymphoid malignancies is somewhat

artificial. Some sub-types of ALL and NHL may represent a continuum of the same disease. In
most cases of NHL the clinical features and treatment reflect the immunological organ of the
malignant cells involved. T cell malignancy may present either as ALL or NHL, and both are
characterised by a mediastinal mass with varying degrees of bone marrow infiltration. B cell
malignancies present more commonly as NHL.
There are 3 principle presentations:
Localised (often head and neck e.g. cervical lymphadenopathy), mainly B cell, with a
good prognosis.
Intrathoracic (anterior mediastinal mass, pleural effusion), typical of T cell disease,
and treated as for ALL.
Intra-abdominal disease (bulky gut or lymph node masses), typical of advanced B cell
disease, and with a relatively poor prognosis despite very intense multiagent
chemotherapy.

score: 80%
The incidence of acute leukaemia is
increased in
True / False
Down's syndrome Correct
Kleinfelter's syndrome Incorrect answer selected
ataxia telangiectasia Correct
Fanconi's anaemia Correct
Hodgkin's disease Incorrect answer selected
The risk of acute leukaemias is increased in association with some chromosomal

abnormalities eg Down's, klinefelter's. It is increased in association with radiation
11
exposure, toxins and in association with other malignancies - Hodgkins,
myeloproliferative disorders and Fanconi's anaemia.
Question: 16 of 100 / Overall score:

80%
The following are true statements about a man

with haemophilia type A:
True / False
His mother is always a carrier Incorrect answer selected
All his daughters are carriers Correct
All his sons are normal Correct
Haemarthroses are common Correct
If his sister has an affected boy she must be a carrier Correct
Both his parents may have been unaffected/non-carrier and the disease occurs as a result of
a spontaneous mutation. His daughters will inherit the abnormal gene from their father and
be carriers and his sons will be unaffected. Haemarthroses are a common clinical feature. If
his sister has an affected son and a brother with the condition, the disease is inherited and
she must be a carrier.
Prognosis in Hodgkin's Lymphoma is adversely affected by:
True / False
Fever Incorrect answer selected
Splenic involvement Incorrect answer selected
Bone pain with alcohol consumption Incorrect answer selected
Pruritis Incorrect answer selected
12
Weight loss >10% in the last 6 months Correct
With modern treatment, more than 90% of patients with Hodgkin's Disease achieve initial
complete remission. The likelihood of prolonged remission or cure is related to the disease
stage, with most patients with stage I or II disease cured, 75% to 90% of those with stage III
disease, and 60-85% of those with stage IV disease.
Stage I: Involvement of a single lymph node region, or of a single extralymphatic

organ or site.
Stage II: Involvement of 2 or more lymphoid organs on the same side as the
diaphragm, or localised involvement of an extralymphatic organ or site, and of one or
more lymph node regions on the same side of the diaphragm.
Stage III: Involvement of lymph node regions on both sides of the diaphragm which
may be accompanied by localised involvement of an extra-lymphatic organ or site, or by
splenic involvement.
Stage IV: Diffuse or disseminated involvement of one or more extra-lymphatic organs

or tissues, with or without associated lymph node enlargement.

score: 78%
Congenital torticollis
True / False
Appears after the third month of birth Correct
Facial asymmetry is a common presentation Correct
Tilt and rotation of the head to the same side of swelling Correct
The ear is nearer the shoulder on the normal side Correct
Physiotherapy is effective in the early stages Correct
Congenital torticollis develops as a result of birth injury to the sternocleidomastoid

muscle. It can present from the second week of birth as a swelling within the
sternocleidomastoid muscle. Once the swelling subsides there is subsequent fibrosis
resulting in tilt and rotation of the neck to the opposite side. Therefore the ear on the
affected side is nearer the shoulder. [Nelson: "Congenital torticollis causes the head
to turn toward and the face to turn away from the affected side."] Facial asymmetry
is a common clinical presentation. In the early stages, physiotherapy to lengthen the
muscle is beneficial. If the condition persists, surgical treatment in the form of
division and release of the muscle at its lower end may be required
13
An obese 2 -year-old child is pale, irritable and lethargic. He lives in very poor old housing
and has pica. The diet regularly includes more than a litre of milk/day. A full blood count
reveals:
Haemoglobin 8.2g/dL (12-16)
Haematocrit 28% (40-52)
Mean Corpuscular Haemoglobin Concentration 25 pg (28-32)
Mean Corpuscular Volume 60 fL (80-96)
Total White Cell Count 10.2 x109/L (4-11 x109)
Neutrophils 44%
Lymphocytes 49%
Monocytes 7%
Platelets 260 x109/L (150-400 x109)
The red cells are described as microcytic and hypochromic. Variation of their size and shape
are noted. Which of the following statements is/are correct concerning this patient?
True / False
A bone marrow examination is mandatory Correct
A blood transfusion is indicated Correct
A blood lead level should be determined Correct
Administration of an oral ferrous sulphate preparation is appropriate Correct
14
The volume of milk consumed is appropriate for his age Correct
The child has dietary iron deficiency and a bone marrow examination is not required. Iron
supplements and dietary changes are required. An oral ferrous sulphate preparation is entirely
appropriate. Lead toxicity should be suspected, particularly with a history of old housing, and
the child may be nibbling flaking paint. The volume of milk consumed is excessive.
In polycythaemia rubra vera there may be:
True / False
Pruritis. Correct
Increased total red cell volume. Correct
Evolution to acute leukaemia. Correct
Reduced plasma volume which contributes to the increased haemocrit.

Correct
Arthropathy as a recognised complication. Incorrect answer selected
Polycythemia rubra vera is a myeloproliferative disorder in which erythroid precursors of

affected people do not require erythropoietin to stimulate growth.
Diagnostic criteria are:
Increased total red blood cell volume.

Arterial oxygen saturation greater than or equal to 92% (to distinguish from secondary
polycythemia).
Splenomegaly.
There may be thrombocytosis, leukocytosis and increased leukocyte alkaline

phosphotase.
Treatment includes phlebotomy -/+ antiproliferative chemotherapy.
Complications:
Bleeding
Thrombosis
Malignant transformation: myelofibrosis, acute leukaemia
15
Prolonged survival is not unusual.
The following are oncogenes:
True / False
The N-Myc gene Correct
The WT1 (first Wilm's tumour) gene Incorrect answer selected
The Retinoblastoma gene Incorrect answer selected
The WT2 (second Wilm's tumour) gene Incorrect answer selected
The BCRabI translocation (Philadelphia chromosome) Incorrect answer

selected
Oncogenes are endogenous human DNA sequences that arise from normal genes called proto-
oncogenes. Proto-oncogenes are normally expressed in many cells, particularly during fetal
development, and are thought to play an important regulatory role in cell growth and
development. Alterations in the proto-oncogene can activate an oncogene, which produces
unregulated gene activity, contributing directly to tumourogenesis. Oncogene alterations are
important causes of:
Rhabdomyosarcomas (ras oncogene).

Burkitt's lymphoma (C-myc is translocated intact from its normal position on
chromosome 8 to chromosome 14).
Neuroblastoma (N-myc proto-oncogene is seen in a proportion of patients with poor

prognosis).
They should be contrasted with tumour suppressor genes. In this situation, the genes normally
down regulate cell growth, and require inactivation to allow malignant growth. Examples
include retinoblastoma.
A 14-year-old West African boy presents with Hb 8g/dl and pains in his legs. Sickle cell disease
is unlikely if:
True / False
He is jaundiced. Correct
16
He has gross splenomegaly. Correct
Puberty began at 12 years. Incorrect answer selected
His urine osmolality is 800mosmol/L, specific gravity 1022. Correct
There is a mid systolic murmur. Correct
Sickle cell anaemia is characterised by severe chronic haemolytic disease resulting from
premature destruction of brittle, poorly deformable erythrocytes. Other manifestations are due
to ischaemia resulting from vascular occlusion by masses of sickle cells. The clinical course is
typically associated with crises.
The manifestations vary considerably with age.

Newborns: haemolytic anaemia from 2-4 months as fetal haemoglobin is replaced by
Hb S, acute sickle dactylitis (hand-foot syndrome).
Pre-school: acute painful vaso-occlusion crises, affecting extremities.
School children: painful crises affecting head, chest, abdomen, back, the site being
typical for an any individual patient. Episodes may be precipitated by intercurrent illness.
Late changes:
o infarction of bone marrow or bone.
o splenic infarction between 6 and 60 months contributing to autosplenectomy.
o pulmonary infarcts (acute chest syndrome).
o stroke caused by cerebrovascular occlusion -/+ hemiplegia.
o ischaemic damage to myocardium, liver and kidneys, with progressive

impairment of renal function and concentrating ability.
Spleen changes: in young children the spleen is enlarged, with occasional acute
splenic sequestration. Altered splenic function increases the risk of serious infection
particularly meningitis sepsis caused by pneumococci and Haemophilus influenzae
(polysaccharide encapsulated organisms).
As the child ages, auto splenectomy reduces spleen size. Cardiomegaly is invariably present in
older children (sickle-related cardiomyopathy), secondary haemosiderosis from increased iron
absorption may damage liver, pancreas and heart, and there may be gall stone formation.
Puberty is frequently delayed, and chronic leg ulcers occur in late adolescence.
The following are poor prognostic indicators in a diagnosis of acute lymphoblastic leukaemia:
17
True / False
Female sex Correct
Age less than one year or greater than ten years Correct
Presence of Philadelphia chromosome Incorrect answer selected
Central nervous system involvement on presentation Correct
Thymic type (T-cell) variety of the disease Incorrect answer selected
The prognosis in ALL is related to tumour load. The single most significant indicator is the
white count. At presentation, a white count >50 x 10 9/L, with bulky organomegaly and
lymphadenopathy and CNS disease, particularly in boys, is associated with a poor prognosis.
The occasional patient with Philadelphia chromosome also has a poor prognosis, and B cell ALL
has a poorer outlook than other phenotypes.
Poor prognostic factors in neuroblastoma include:
True / False
Elevated urine catecholamines Incorrect answer selected
Age above 1 year Incorrect answer selected
Amplification of the N-Myc oncogene Correct
Stage 4S disease Correct
Stage 4 disease Correct
The most important prognostic features are age and stage of disease at diagnosis. Over the
age of a year, the prognosis is poorer, particularly with advanced disease. Over expression of
the N-Myc oncogene and evidence of deletion of material on chromosome 1 (del 1p) is also
associated with a poorer prognosis.
Staging divides tumours into 4:

I. Grossly resected tumour.
II. Localised unresectable tumour.
18
III. Metastases to non-contiguous intracavitary lymph nodes.
IV. Metastases beyond lymph nodes.
In addition, there is a stage IV, in infants with small adrenal primary with metastatic disease
limited to skin, liver or bone marrow. These have been known to undergo spontaneous
remission. The presence of bone involvement at this age is a poor prognostic factor.
In febrile neutropaenia after chemotherapy:
True / False
Antibiotics should be withheld until there are positive antimicrobial culture

results. Correct
Antifungal treatment should be started immediately. Correct
Treatment with colony stimulating factors such as G-CSF have shown no

benefit. Correct
The organisms most commonly isolated from blood cultures are coagulase
negative staphylococci. Correct
Empirical antibiotic treatment should be chosen to cover such organisms as

Pseudomonas. Correct
Children receiving chemotherapy or wide field irradiation are immunocompromised.

Chemotherapy-induced neutropenia places children at risk of septicaemia. Febrile, neutropenic
children must be admitted to hospital for blood cultures and broad-spectrum antibiotics.
Antifungals may be added after 5 days if fever and neutropaenia persist. G-CSF reduces the
period of neutropaenia, fever and frequency of infection.
Particular problems include:
Pneumocystis pneumonia.
Disseminated fungal infection (Aspergillus, candida).
Coagulase negative Staphylococcal infection (central catheters).
Gram negative septicaemia.
Viral infections, particularly measles and varicella.
Which of the following statements are true in childhood

acute idiopathic thrombocytopenia (ITP)?:
True / False
19
The leading cause of death is massive gastrointestinal bleeding Incorrect
answer selected
Incomplete remission after 6-12 months of age is an indication for splenectomy

Prednisone reduces the risk of developing chronic ITP Incorrect answer

selected
The treatment of choice for a patient with massive haemorrhage and a platelet
count of 5000/mm3 is immediate transfusion with platelets Incorrect answer
selected
If splenectomy is undertaken at some stage this should be covered by measles

immunisation Incorrect answer selected
The leading cause of death in ITP is intracranial haemorrhage. The disease may still
remit after this time period. Prednisone does not reduce the risk of developing chronic
ITP. The treatment of choice for a patient with massive haemorrhage is intravenous
methylprednisolone, intravenous immune globulin and platelet transfusion.
Splenectomy may also be required. Patients undergoing splenectomy should be
covered by Haemophilus influenzae, pneumococcal and meningococcal vaccination.
Regarding the red cell:
True / False
Carbon Dioxide binds with reduced haemoglobin. Correct
The oxygen affinity of haemoglobin is decreased in the presence of acidosis.

Correct
The oxygen affinity of fetal haemoglobin is greater than adult haemoglobin.

Correct
Carbonic anhydrase is present in all red cells. Correct
Most carbon dioxide in venous blood is transported bound to albumin.

Carbon dioxide is carried in the blood in 3 forms:
Dissolved (10%).
Bicarbonate, whose formation is encouraged by carbonic anhydrase present in the red
cell.
20
As carboamino compounds: hydrogen irons liberated from the bicarbonate reaction are
bound to haemoglobin which encourages the release of oxygen, since reduced haemoglobin
is less acid than the oxygenated forms.
Thus, the presence of reduced haemoglobin in the peripheral blood helps with the loading of
carbon dioxide, while the oxygenation which occurs in the pulmonary capillary assists in the
unloading of it. The fact that the deoxygenation of the blood increases its ability to carry
carbon dioxide is often known as the Haldane effect.
Fetal haemoglobin contains g polypeptide chains in place of the b-chains of Hb A. Its

resistance to denaturation by strong alkali is used in its quantitations. Hb F is the predominant
haemoglobin from 8 weeks gestation, and constitutes 90% of the total haemoglobin of the 6
month fetus. At birth 70% of the total is Hb F, and synthesis decreases rapidly postnatally,
such that by a year, only 2% is present. Hb F has a greater oxygen affinity than Hb A, so the
growing fetus is preferentially ourished by oxygen in utero.
The following statements relate to embryonic tumours:
True / False
An ovarian teratoma is usually malignant Correct
A nephroblastoma may be benign Incorrect answer selected
A neuroblastoma can arise in the adrenal medulla Correct
A hamartoma is usually malignant Correct
Choriocarcinoma may arise in a teratoma Correct
Ovarian teratomas are usually benign and can form complex structures such as hair, bone
teeth etc. In contrast, nephroblastoma is malignant. Neuroblastoma can arise in any neural
tissue and consequently is reported to arise from the adrenal medulla. Hamartomas are
benign structures and rarely associated with malignancy (Cowden's disease is multiple
hamartomas with increased malignant potential - thyroid, breast). Choriocarcinoma can arise
from teratoma.
The causes of hepatosplenomegaly in a 10-year old child include:
True / False
Gaucher's disease Correct
21
metastatic spread from craniopharyngioma Incorrect answer selected
leukaemia Correct
primary biliary cirrhosis Correct
congenital rubella syndrome Correct
Causes of HS-megaly include leukaemia, Gaucher's (lipid storage disease), and infections. PBC
would not even be expected in a 10-year-old and craniopharyngioma is a cerebral tumour
where no HS-megaly would be expected. Rubella may itself cause HS-megaly as may
congenital rubella in the newborn. The latter is associated with a poor prognosis. If the child
were to survive until 10 years of age the inital HSM may be expected to have subsided.
In the management of acute sickle cell painful crises:
True / False
Patients should receive continuous oxygen and monitoring of SaO 2. Incorrect

answer selected
Patients should receive intravenous antibiotics. Correct
Intravenous opiate analgesia should be titrated until adequate control of pain.

Correct
Blood transfusions should be given. Correct
Intravenous hydroxycarbamide should be given. Incorrect answer selected
Painful episodes can often be managed with oral Paracetamol -/+ codeine. Severe episodes
require hospitalisation with parenteral opiates. Anti-inflammatories may decrease or eliminate
the need for narcotics. Dehydration and/or acidosis should be rapidly corrected by intravenous
fluids. Packed cells are specifically indicated for acute splenic sequestration and aplastic crises.
The latter may require splenectomy. Intravenous antibiotics should be given to cover the
possibility of haemophilus or pneumococcal infection. Chemotherapy regimens that stimulate
fetal haemoglobin synthesis have been employed with beneficial effect on an experimental
basis. These include hydroxycarbamide and hydroxybutyrate. These are given as maintenance
therapy.
Concerning T Lymphocytes:
22
True / False
All have CD4 receptors. Correct
They are activated in the secondary immune response. Incorrect answer

selected
They are involved in allergic contact dermatitis. Incorrect answer selected
They enter lymphoid tissue through specialised venule walls. Correct
They undergo maturation in the thymus. Correct
T cells are produced from precursors in the fetal liver, and begin to colonise the thymus at 8
weeks gestation (this derives from the branchial cleft and the branchial pouch). The mature T
cell receptor is a heterodimer of 2 chains either a, b (common) or g, d (rare), which is co-
expressed on the cell surface with CD3, a complex of 5 polypeptide chains (g,d,e,x,h). TCR
gene rearrangement produces massive diversity. Positive and negative selection remove
autoreactive lymphocytes. CD4 cells (helper cells) have been described as "the conductor of
the immunological orchestra", since cytokine production by them orchestrates the immune
response. When their function is reduced, as it progressively is in HIV infection, a discordant
immune response results. CD8 cells are cytotoxic T cells.
Type IV cell-mediated or delayed type hypersensitivity, follows interaction of antigen with

specifically sensitised thymus derived T lymphocytes. Contact allergy (such as poison ivy, or
contact dermatitis) is the prototype of allergic disease mediated by delayed type
hypersensitivity. Drug reactions with involvement of liver, lung and kidney are further
examples. Tuberculin reactivity, graft vs. host disease, tissue transplant reactions, and
infiltrative hypersensitivity lung diseases with granuloma formation are further examples
Poor prognostic factors in acute lymphoblastic leukaemia include:
True / False
Haemoglobin <6g/dl on presentation Incorrect answer selected
Total peripheral blood WBC greater than 100 x 10 9/L Correct
Presence of the Philadelphia Chromosome Correct
Female sex Correct
23
Age less than 1 year Correct
Numerous clinical factors have emerged as prognostic indicators, only to loose their
significance as treatment improves. Thus with modern treatment regimens the
immunophenotype has largely been eliminated as a risk factor. Initial white cell count of >100
x 109/L(>50x109/L in some reports) is a poor prognostic factor, and children >10 years and
younger than 1 year have an increased risk. Many chromosomal abnormalities have a reduced
risk, but the presence of the Philadelphia chromosome increases it. B cell ALL has a worse
prognosis. Males are more severely affected
A prolonged thrombin clotting time may occur in:
True / False
warfarin therapy Incorrect answer selected
prothrombin deficiency Incorrect answer selected
disseminated intravascular coagulation Correct
dysfibrinogenaemia Correct
liver disease Correct
Thrombin time compares a patient's rate of clot formation to that of a sample of normal
pooled plasma. Thrombin is added to the samples of plasma. If the plasma does not clot
immediately, a fibrinogen deficiency is present. If a patient is receiving heparin, a substance
derived from snake venom called reptilase is used instead of thrombin. Reptilase has a similar
action to thrombin but unlike thrombin it is not inhibited by heparin.
Thrombin added to platelet-poor plasma at 37C; the clotting time is recorded. Typically 14-16
secs is normal time. Prolonged in afibrinogenaemia, hypofibrinogenaemia, dysfibrinogenaemia.
Prolonged by heparin (corrects with protamine), FDP, paraproteins (partial correction with
protamine).
Idiopathic thrombocytopenic purpura:
True / False
Is essentially a disease of childhood. Incorrect answer selected
24
Has a high mortality rate, even when treatment is prompt. Incorrect answer
selected
Is associated with mucous membrane haemorrhage. Correct
Is improved by treatment with pooled gamma globulin. Correct
The mainstay of treatment is splenectomy. Incorrect answer selected
Acute ITP is the commonest of the thrombocytopaenic purpuras of childhood. It is associated

with petechiae, mucocutaneous bleeding, and occasionally haemorrhage into the tissues.
There is profound deficiency of circulating platelets despite adequate number of
megakaryocytes in the marrow. In 70% there may be an antecedent viral infection, and this is
thought to trigger an immune mechanism causing the thrombocytopenia. Bleeding is
asymmetrical, and may be most prominent over the legs. Mucous membrane haemorrhage
may be prominent with bullae of the gums and lips and nose bleeds may be difficult to control.
Intracranial haemorrhage occurs in fewer than 1% of cases.
There is no enlargement of liver, spleen or lymph nodes, and the acute phase usually resolves
in 1-2 weeks. The thrombocytopaenia may persist. The platelet count is below 20 x 10 9/L, the
white cell count is normal, and anaemia is not present unless significant bleeding has
occurred. Bone marrow aspiration reveals increased megakaryocyte numbers. The majority of
patients recover with no treatment. Platelet infusions will have only transient benefit.
Gammaglobulin is followed by a sustained rise in the platelet count. Corticosteroid therapy
reduces the severity and shortens the duration of the initial phase, but may mask the
occasional leukaemia presenting with thrombocytopenia. Splenectomy should be reserved for
chronic patients, defined as thrombocytopenia present for more than a year, and for severe
cases who do not respond to steroids.
The following associations are well described:
True / False
Renal transplantation and secondary malignancy Incorrect answer selected
Hepatitis B and aplastic anaemia Correct
Turner's syndrome and acute myeloid leukaemia Correct
Basophilia and chronic myeloid leukaemia Incorrect answer selected
Crohn's disease and TB Incorrect answer selected
25
Post-renal transplant complications include:
Renal: acute tubular necrosis, acute and chronic rejection, technical urological or
urovascular problems, recurrence of the original renal disease, urinoma.
Drug toxicity (immunosuppressives, antibiotics).
Infection (particularly viral e.g. CMV, systemic), wound or urinary tract infection.
Bleeding.
Pancreatitis, lymphocele, bowel obstruction.
Secondary malignancy
Aplastic anaemia may be acquired or congenital.
Congenital causes:
Fanconi anaemia, reticular dysgenesis, Schwachman-Diamond Syndrome, dyskeratosis

congenita, familial aplastic anaemia, preleukaemias, myodysplasia, monosomy 7, non-
haematological syndromes (Down's, Seckle, Dubowitz).Acquired causes:
Idiopathic
Secondary:
o Radiation, drugs and chemicals (either predictable or idiosyncratic).
o Viruses: EBV, hepatitis, parvovirus, HIV.
o Immunological diseases: eosinophilic fascitis, hypoimmunoglobulinaemia,

thymoma.
o Other: pregnancy, paroxysmal nocturnal haemoglobinuria, preleukaemia.
AML constitutes 20% of all childhood leukaemias, but is the predominant in the neonatal
period. It has an increased incidence in Down's Syndrome, Fanconi anaemia, Diamond-
Blackfan anaemia, Kostmann Syndrome and Bloom Syndrome. It also occurs in children
treated for a previous leukaemia, with a peak incidence within 10 years of the initial
malignancy. This may be related to alkylating agents, agents that inhibit DNA repair, or
radiation therapy. CML is a clonal malignancy of the haematopoietic stem cell characterised by
a specific location, the t(9;22) (q34;q1), known as the Philadelphia chromosome. This
juxtaposition produces a fusion gene. CML is rare in children, accounting for only 3% of
childhood leukaemia. In most cases there is no predisposing feature. The films shows elevated
white cell counts (which may exceed 105 per mm3, with all forms of myeloid cells seen in the
blood smear. Platelet count may be elevated, and the bone marrow is hypercellular.
Cytogenetic and molecular studies demonstrating the Philadelphia chromosome confirm the
diagnosis. Currently, there is no evidence to link Crohn's disease with TB.
Regarding sickle cell disease
True / False
26
The Sickledex test involves adding a reagent to blood, which identifies the type
of haemoglobinopathy Correct
It is caused by the substitution of glutamic acid by valine at position 6 on the

beta chain of haemoglobin Correct
The erythrocytes of Haemoglobin AS patients can sickle at a PO 2

of 5 - 6 kPa (40 50 mmHg)
Correct
The erythrocytes of Haemoglobin SC patients may sickle at a PO 2 of 4 kPa (30
mmHg) Correct
Osteomyelitis is typically caused by E. coli bacteria Correct
Sickle cell disease in a haemoglobinopathy caused by the substitution of glutamic acid by

valine at position 6 (from the N-terminal) of the beta chain. Inherited as an autosomal gene,
heterozygous (HbAS) and homozygous (HbSS) forms exist. A low partial pressure of oxygen
(PO2) causes HbS to polymerise and precipitate, resulting in sickling of the erythrocyte. HbSS
patients sickle at PO2 of 5 6 kPa and HbAS patients sickle at PO 2 of 2.5 4 kPa (not 5 6
kPa).
A mild disease is produced when heterozygotes for HbS combine with other haemoglobins e.g.
Haemoglobin C, creating HbSC, with sickling occurring at around 4 kPa. Osteomyelitis is
typically caused by unusual organisms, e.g. Salmonella.
Diagnosis of sickle cell disease requires the detection of HbS. The Sickledex test involves the
addition of reagent to blood; turbidity only confirming the presence of HbS, but it gives no
information on other haemoglobins. Haemoglobin electrophoresis is the only investigation that
can determine the nature of the haemoglobinopathy.
Acute lymphoblastic leukaemia may present in the following ways:
True / False
Poor weight gain Correct
Haematuria Correct
Abdominal pain Correct
Chest pain Correct
Sore throat Correct
27
Clinical presentation of ALL results from infiltration of the bone marrow or other organs with
leukaemic blast cells.
They include:
General: malaise, anorexia, lethargy.

Bone marrow infiltration:
- Anaemia: pallor, lethargy.
- Neutropenia: infections.
- Thrombocytopenia: bruising, petechiae, nose bleeds.
- In addition, bone pain may be caused by bone marrow infiltration and may affect
anywhere in the body.
Reticular endothelial infiltration: hepatosplenomegaly, lymphadenopathy, superior

mediastinal obstruction (uncommon).
Other organ infiltration:

- CNS: headaches, vomiting, convulsions, nerve palsies.
- Testes: testicular enlargement.

73%
A 7-year-old Nigerian girl is found to be
homozygous for glucose-6-phosphate
dehydrogenase deficiency. The following are
true
True / False
ingestion of soya beans is likely to cause haemolysis Incorrect answer

selected
splenectomy is usually beneficial Correct
air travel at high altitude is contra-indicated Incorrect answer selected
antimalarial drugs may cause haemolysis Correct
inheritance is X-linked Correct
G6PD deficiency is a highly polymorphic X linked disorder where haemolysis is

associated with the consumption of fava beans, antimalarials and nitrofurantoin.
The following apply to complications of leukaemia:
True / False
28
Meningeal leukaemia is completely preventable Correct
Uric acid nephropathy occurs in remission Incorrect answer selected
Risk of infection is increased in leukaemia Correct
Passive protection with hyperimmune gammaglobulin should be given for

measles Incorrect answer selected
Treatment will usually result in infertility Incorrect answer selected
Prophylactic intrathecal chemotherapy and cranial radiation does not prevent

meningeal leukaemia in all cases. Uric acid nephropathy occurs when there are high
levels of circulating blasts and cell breakdown is occurring, eg during chemotherapy.
The risk of infection increases as normal white cells are reduced in number. Passive
protection against measles should be given, as the immune response to the vaccine
will be inadequate. Infertility is not common, however in males testicular relapse may
occur.
A 4-year-old boy develops purpura after an upper

respiratory infection. The platelet count is 20 x10 9/L
(150-400 x109) and bone marrow examination shows
megakaryocyte hyperplasia: Which of the following
is/are true regarding this patient?
True / False
His clotting time will be prolonged Correct
Hess test will be positive Correct
A spontaneous remission is likely Correct
A transfusion of fresh platelets is indicated Incorrect answer selected
Splenectomy should be undertaken within three months Correct
The clotting time will be normal as the coagulation factors are not affected. The
Hesss test is a test of platelet adhesion and aggregation and this would be abnormal.
In acute temporary thrombocytopenic purpura which often follows a viral infection,
85% of children will recover in a year. Transfusion of platelets is not beneficial and not
29
indicated unless surgery is to be undertaken or the child is experiencing active
bleeding. The treatment is usually immune suppression with drugs such as
Prednisolone and or intravenous infusions of immune globulin. Splenectomy is not
indicated this early in the disease as it may spontaneously remit within a year.
In the first year of life the following haematological

features are true:
True / False
gamma chains are found in foetal haemoglobin (HbF) Correct
the survival of erythrocytes is longer in infants than in adults Correct
sickle cell disease does not present in the neonatal period Correct
erythropoietin production starts after 3 months Correct
the oxygen dissociation curve (ODC) for foetal haemoglobin lies to the right of
adult haemoglobin Correct
Foetal haemoglobin (HbF) differs from adult haemoglobin by gamma chains replacing
the beta chains. The oxygen dissociation curve for HbF is to the left of adult
haemoglobin (not right), facilitating the transfer of oxygen from the maternal
circulation to the foetus. HbF is gradually replaced by adult haemoglobin during the
first 6 months of life. Thus sickle cell disease does not present during the neonatal
period and screening only needs to be performed after the age of three months
(when the proportion of adult haemoglobin has started to increase).
Erythropoietin production starts in utero, and then production falls after birth with an
increase seen at about 3 months resulting in a reticulocytosis. Erythrocyte survival is
shorter in neonates (not longer) than in adults.
Which of the following is true of Factor VIII?
True / False
released mainly by megakaryocytes Incorrect answer selected
mediates the endothelial platelet aggregation Correct
30
is an essential co-factor in the activities of Factor X to Factor Xa Correct
has a half life of 8-12 hours Correct
deficiency is a major source of bleeding in Von Willebrand's disease Correct
a- factor VIII is derived mainly from endothelium but also from megakaryocytes b-it links
platelet membrane receptors to vascular subendothelium c-in association with calcium /
activated factor IX d-stored blood at 4C -> activity falls to 10% in first 3 days. Half life is
shorter in patients with blood group O than A. (Dr Shu Ho)
The platelet count is typically reduced in:
True / False
Acute leukaemia Correct
Kawasaki disease Correct
Disseminated intravascular coagulation Incorrect answer selected
Henoch-Schonlein purpura Correct
Vitamin K deficiency Correct
The platelet count will be reduced in acute leukaemia due to bone marrow infiltration by
blasts. In Kawasaki disease there will be thrombocytosis. Disseminated intravascular
coagulation is characterised by low platelets and abnormal clotting profile. In Henoch-
Schonlein purpura there will be normal clotting profile and platelet count. Vitamin K deficiency
cause prolonged Prothrombin time and APPT, but not thrombocytopenia .
Regarding Vitamin K deficiency:
True / False
It is commoner in breast fed babies. Correct
31
It causes haemolytic disease of the newborn. Correct
It should be considered if a prolonged partial thromboplastin time is found.

Correct
It is associated with decreased levels of factor 5. Correct
Is usually due to decreased synthesis in the liver. Incorrect answer

selected
Vitamin K is actually from a group of vitamins (naphthoquinones). These are natural fat-
soluble compounds that are stable to heat and reducing agents. They are labile to oxidising
agents, acids, alkali, light. Bile salts are necessary for intestinal absorption. They are involved
in the synthesis of prothrombin, and coagulation factors 2, 7, 9 and 10 and osteocalcin in
addition to proteins C, S and Z. Absence results in haemorrhagic manifestations. They are
found particularly in green leafy vegetables, pork and liver. Analogues may produce
hyperbilirubinaemia in premature infants.
Deficiency of Vitamin K can lead to haemorrhage at a variety of sites. This may occur during
the first few days (early haemorrhagic disease) or within the first 3 months of life (late
haemorrhagic disease). The latter is much more serious because of the potential for
intracranial bleeds, leaving 30% dead and 40% seriously handicapped. Modern formula feeds
are supplemented with Vitamin K, but babies who are breast fed should definitely receive
supplements. There is no definite link of intramuscular Vitamin K with childhood cancer, and
the larger studies suggest that there is no link at all. Oral regimens of prophylaxis are likely to
be suboptimal for compliance particularly from the third dose (in one study measured there
was only 40%
The following diseases are inherited in a sex-linked recessive manner:
True / False
Idiopathic thrombocytopenia Correct
Haemophilia Correct
Christmas disease Correct
Von Willebrands disease Incorrect answer selected
Hereditary spherocytosis Correct
32
Idiopathic thrombocytopenia is not a genetic disorder. Haemophillia A and B (Christmas
Disease) have both sex linked transmission. Von Willebrands disease is mostly inherited in a
dominant fashion, but recent case reports suggest some forms of the disease are autosomal
recessive. HS is autosomal dominant.
Which of the following statements concerning retinoblastoma are correct?
True / False
is usually fatal even if diagnosis is made early Correct
the tumour is inheritable Correct
may occur bilaterally Correct
the finding of leucorrhoea suggests the diagnosis Incorrect answer

selected
it may present with heterochromia iris Incorrect answer selected
Retinoblastoma is a tumour of the immature retina usually affecting children less than 5 years
old. In the inherited form of the disorder, the so-called Rb 1 gene is deleted from Chromosome
13. It may be bilateral in up to 30%. With early diagnosis, prognosis is excellent with up to
90% survival. Enucleation is the treatment of choice with bilateral disease requiring
radiotherapy/chemotherapy. Leucocoria (white reflex) not leucorrhoea is a feature of
retinoblastoma. Different colour iris (Heterochromia iridis) is also a feature.
An obese 2 -year-old child is pale, irritable and lethargic. He lives in very poor old housing
and has pica. The diet regularly includes more than a litre of milk/day. A full blood count
reveals:
Haemoglobin 8.2g/dL (12-16)
Haematocrit 28% (40-52)
Mean Corpuscular Haemoglobin Concentration 25 pg (28-32)
Mean Corpuscular Volume 60 fL (80-96)
33
Total White Cell Count 10.2 x109/L (4-11 x109)
Neutrophils 44%
Lymphocytes 49%
Monocytes 7%
Platelets 260 x109/L (150-400 x109)
The red cells are described as microcytic and hypochromic. Variation of their size and shape
are noted. Which of the following statements is/are correct concerning this patient?
True / False
A bone marrow examination is mandatory Correct
A blood transfusion is indicated Correct
A blood lead level should be determined Correct
Administration of an oral ferrous sulphate preparation is appropriate Correct
The volume of milk consumed is appropriate for his age Correct
The child has dietary iron deficiency and a bone marrow examination is not required. Iron
supplements and dietary changes are required. An oral ferrous sulphate preparation is entirely
appropriate. Lead toxicity should be suspected, particularly with a history of old housing, and
the child may be nibbling flaking paint. The volume of milk consumed is excessive.
Haemorrhage into a large joint of a child is characteristically associated with:
True / False
Stills disease Correct
34
Haemophilia Correct
Henoch-Schonlein (anaphylactoid) purpura Correct
Osteochondritis Correct
Christmas disease (factor IX deficiency) Correct
All of the above may include symptoms of joint involvement. Stills disease , HSP and
osteochondritis are associated with inflammatory changes of the joints whereas in both
Haemophilia and Christmas disease haemarthroses occur , due to spontaneous bleeding into
the joints.
Acute myeloid leukaemia:
True / False
up to 90% of patients achieve remission with chemotherapy Incorrect

answer selected
if one twin is affected the other twin has a 10% chance of developing the
condition in the next 2 years Correct
may present with localised skin involvement called chloromas Correct
is associated with marrow chromosomal abnormalities in the majority of cases

has a less aggressive course in the elderly Correct
d-80%, e-less reach remission. In childhood survival to first remission exceeds 70% in good
prognostic groups, but is lower overall.
Regarding childhood malignancies:
True / False
A mediastinal mass is a frequent finding in T cell Acute Lymphoblastic

Leukaemia. Correct
35
A bone marrow biopsy should always be performed to exclude leukaemia before
ITP is treated with steroids. Correct
Cranial irradiation before the age of 3 years has a high neurocognitive

morbidity. Correct
Children on chemotherapy are at high risk if exposed to measles or chickenpox.

Correct
The siblings of children on active treatment for cancer can be safely immunised
with the combined measles, mumps and rubella vaccine (MMR). Correct
A mediastinal mass is typical of T cell acute leukaemia, and can also be a manifestation of T
cell non-Hodgkin's lymphoma.
Side effects of chemotherapy are extremely common and important. They include:
Infection from immunosuppression: neutropaenia places children at risk of

septicaemia, and there are specific problems with gram negative organisms, coagulase
negative Staph., PCP, and disseminated fungal infections. Most viral infections are no worse
than in other children, but measles and varicella may be life-threatening. Zoster
immunoglobulin may be helpful in non-immune children who have been in contact with
measles or varicella. Acyclovir is used to treat established varicella infection, but no active
treatment is available for measles. The use of live vaccines in patients receiving
chemotherapy should be avoided until at least 6 months to a year has elapsed following
the completion of chemotherapy.
Bone marrow suppression: anaemia requires transfusion, and thrombocytopenia may
result in bleeding.
Gut mucosal damage: this may increase the risk of gram negative infection, and is
associated with painful mouth ulcers, which can prevent eating.
Specific side effects:
Cardiotoxicity with Doxorubicin.

Renal failure and deafness with Cisplatin.
Haemorrhagic cystitis with Cyclophosphamide.
Neuropathy with Vincristine.
Occasionally, leukaemia may present with thrombocytopenia alone. In patients presenting with
a low platelet count who are thought to have ITP, a bone marrow should be done if steroids
are considered, as they may suppress the leukaemia enough to delay diagnosis.
RCPCH guidance on Immunisation in the Immunocompromised 2002
Characteristics of thalassaemia major include:
True / False
36
Polycythaemia Correct
Low levels of foetal haemoglobin Correct
Splenomegaly Correct
High serum iron level Incorrect answer selected
Hair on end appearance on x-ray of the skull Correct
Anaemia would result rather than polycythaemia. HbF and HbA 2 levels will be high.
Hepatosplenomegaly occurs secondary to chronic haemolysis and iron overload (multiple
transfusions) occur leading to the risk of cirrhosis. Ineffective erythropoesis leads to excessive
abnormal bone growth with skull and maxillary deformities.
More detail on Thalassaemia...
The following conditions commonly require splenectomy in later life:
True / False
Sickle cell trait Correct
Sickle cell disease Correct
Beta Thalassaemia Correct
Glucose-6-phosphate dehydrogenase deficiency Correct
Acute idiopathic thrombocytopenic purpura Incorrect answer selected
Because of the risk of post-operative sepsis, splenectomy should be limited to specific

indications. These include:
Splenic rupture, anatomic defects.

Haemolytic anaemias, immune cytopenias.
Metabolic storage diseases.
Secondary hypersplenism.
37
Surgical indications (rare).
The major risk is infection, particularly in children less than 5 years. The risk of sepsis is
slightly less in splenectomies done for trauma, red cell membrane defects, and immune
cytopenias then when there is a pre-existing immune deficiency such as Wiskott-Aldrich
Syndrome or reticuloendothelial blockage such as storage diseases or severe haemolytic
anaemias.
The following drugs should be avoided in all patients with glucose-6-phosphate dehydrogenase
deficiency:
True / False
Quinine Incorrect answer selected
Nitrofurantoin Correct
Sulphapyridine Correct
Chloramphenicol Incorrect answer selected
Chloral hydrate Correct
In glucose-6-phosphate-dehydrogenase deficiency (G-6-PD) subjects are susceptible to

developing acute haemolytic anaemia on taking a number of common drugs. Ingestion of fava
beans may result in haemolysis in severe cases, or when they are eaten raw. G-6-PD is
genetically heterogeneous. The risk from drugs therefore varies from patient to patient. There
is no test available to identify potential risk in G-6-PD deficiency. The risk of severity of
haemolysis is almost always dose related.
Drugs with a definite risk in most G-6-PD deficient subjects include:
Sulphonamides and Dapsone.

Methylene blue
Nitrofurantoin
Primiquine
Quinilones (including Ciprafloxacin, Nalidixic acid)
Quinine carries a possible risk, but it is acceptable to use it in acute malaria.
Hyperuricaemia may be a feature of:
38
True / False
Down's Syndrome. Incorrect answer selected
Aspirin therapy. Correct
Diabetic ketoacidosis. Correct
Chemotherapy for ALL. Correct
Cystinosis. Incorrect answer selected
Hyperuricaemia may result from:
Marked increases in cell number or cell destruction as in myeloproliferative disease or

ALL treatment.
Decreased renal clearance, as in salicylate therapy or Down's Syndrome.
Raised ketone body levels, as in starvation or diabetic ketoacidosis. Prehydration is

therefore used to prevent tumour lysis syndrome in the acute treatment of ALL, because of
the anticipated load of uric acid from massive tumour cell destruction.

74%
Henoch-Schonlein syndrome is associated
with:
True / False
A highest incidence in children under the age of 3 Incorrect answer

selected
Hepatosplenomegaly Correct
Haemolytic anaemia Correct
Sudden onset of oedema in unusual places Correct
Elbow purpura and papules Correct
75 % of the children are above 2 years but

below 11 years. Hepatosplenomegaly is a rare
feature of active disease. Haemolysis is not
39
present, Full blood count and clotting are
normal. Subcutaneous oedema of the feet,
hands, scalp and ears are seen. Scrotal
oedema also may occur. Gastrointestinal
bleeding may occur and haematuria and
proteinuria also may occur. Abdominal pain,
intussusception and arthritis are features.
Purpura and papules occur in the elbows but
the characteristic sites are thighs and buttocks.
Read about Henoch-Schonlein syndrome on e-
Medicine...
Features which may be seen on the blood film of a patient with haemolysis include:
True / False
Polychromasia Correct
Howell Jolly bodies Correct
Elliptocytes Incorrect answer selected
Target cells Correct
Heinz bodies Correct
The following are common abnormalities of red cell morphology:
Polychromasia: younger cells have a bluish tinge (basophilia), and are larger than
average, and may contain residual nuclear material (reticulocytes). The presence of many
basophilic forms in a blood film produces a multicoloured effect known as polychromasia.
Microcytosis indicates small red cells, anisocytosis variation in size, and macrocytosis a
large size. Poikilocytosis indicates altered shape.
Spherocytes may indicate hereditary spherocytosis, and may also be found in acquired
haemolytic anaemias, while elliptocytes are found in hereditary elliptocytosis.
Schistocytes are fragments of red cells, as seen in DIC or haemolytic uraemic

syndrome.
In splenic dysfunction: target cells and red cells containing nuclear fragments known
as Howell Jolly bodies are seen. Pappenheimer bodies are iron containing inclusions, and
when seen together with Howell Jolly bodies suggest previous splenectomy or reduced
splenic function.
40
Heinz bodies: are denatured haemoglobin which result from deficiencies of enzymes of
the penthose phosphate pathway. This damages the red cell leading to haemolysis and
removal of them by the spleen.
In childhood, acute lymphoblastic leukaemia:
True / False
Is the most common malignant blood disorder Correct
Is associated with an abnormal chromosome 11 Correct
Is more common in children with Downs syndrome Correct
Does not affect the meninges Correct
Is fatal in the majority of children Correct
Acute Lymphoblastic leukaemia(ALL) is the most common representing 23% of

childhood cancers, with an annual rate of 30-40 per million. The chromosomal
abnormality in ALL involves a translocation in the 11q23 region. ALL and AML are
both more common in children with Downs syndrome. It does affect the meninges
which is why prophylactic cranio-spinal irradiation and intrathecal methotrexate is
given. It carries a good prognosis with a cure rate of 80%.
Neuroblastoma
True / False
is an embryonic tumour Incorrect answer selected
usually has a familial incidence Incorrect answer selected
metastasises most commonly to the lungs Incorrect answer selected
is easily eradicated by radiotherapy Correct
is a secreting tumour Correct
41
Neuroblastoma is a tumour derived from
neural crest tissue and so, is properly regarded
as an APUD tumour. The most common sites
are: 50% adrenal medulla, 25% abdominal
sympathetic ganglia, 20% chest, 5% pelvis,
5% neck. The tumour may secrete
catecholamines hence urine VMA
concentrations are elevated Spontaneous
remission is well recognised in this condition.
Extra abdominal sites generally have a better
prognosis. It metastasises most commonly to
lymph nodes, bone, bone marrow, liver, and
skin.
Good prognostic factors associated with
childhood acute lymphoblastic leukaemia
include:
True / False
Age 3-7 yrs Correct
Anaemia at presentation Correct
Female sex Correct
Low platelet count Correct
White cell count of 100x10 9/l at presentation Correct
Good prognostic factors include age 3-7, female sex. Poor prognostic factors include
age <1 year or >10 years, white cell count above 100x10 9/l at presentation and
translocation of chromosomes 9:21 (Philadelphia chromosome).
Philadelphia chromosome
Theme:Wheeze
AAspiration
BBronchiolitis
CBronchospasm
DForeign body
EHilar adenopathy
FPneumonia, Mycoplasma
GPneumonia, Chlamydia
42
HPulmonary oedema, cardiogenic
IPulmonary oedema, non-cardiogenic
For each scenario choose the most likely diagnosis:
A 2-year-old child presents with a 5 day history of fever and blanching rash. She develops red
eyes and sore lips. 2 days later she becomes breathless and wheezy.
Incorrect - The correct answer is Pulmonary oedema, cardiogenic
A 4-year-old child presents with a 3 month history of progressive unwellness. He has large
rubbery glands in the neck and audible wheeze.
Incorrect - The correct answer is Hilar adenopathy
A 13-year-old girl presents with a 5d history of myalgia, fever, and wheeze. She has never had
chest problems before.
Incorrect - The correct answer is Pneumonia, Mycoplasma
Not all that wheezes is asthma!
The 2-year-old child has Kawasaki disease and heart failure, an uncommon cause of wheeze at
this age.
The 4-year-old has a malignancy with external airway compression from mediastinal glands.
The 13-year-old is an adolescent with atypical pneumonia, most likely Mycoplasma.

Mycoplasma and Chlamydia are the exceptions to the rule that wheezing does not respond to
antibiotics.
Theme:Neck mass.
ABranchial cyst
BCystic hygroma
CDermoid cyst
DGoitre
EHaemangioma
43
FLaryngocoele
GSternomastoid tumour
HTeratoma
IThyroglossal duct cyst
A 4-year-old boy presents with a red tender swelling in the midline, which rises on swallowing.
Correct
The 4-year-old boy has a midline mass. The differential lies between thryoglossal cyst, goitre,
dermoid cyst, teratoma or laryngocoele. The clinical presentation suggests an infected
thyroglossal cyst.
A 2 day old infant presents with large transilluminating mass in the right posterior triangle of
the neck.
Correct
The 2 day old infant has mass in the posterior triangle which transilluminates. A cystic
hygroma is likely.
A 2 week old infant is noted to keep her head to the left. On examination she has a palpable
lump in the left side of the neck.
Correct
The 2 week old infant has a firm mass in the body of sternocleidomastoid associated with
decreased head movement to the contralateral side, a sternomastoid tumour. This responds to
stretching exercises.
Neck masses may be congenital or acquired. Congenital masses may be in the midline, in the anterior triangle,
posterior triangle, body or sternocleidomastoid or anywhere. Masses in the anterior triangle represent branchial
cleft cysts. Haemangiomas can occur anywhere, but are easily identified by their soft, spongy red characteristics.
On examination of neck swellings...
44
Theme:Haematological Disorders
AAplastic anaemia
BBeta Thalassaemia Major
CElliptocytosis
DGlucose 6 Phosphate dehydrogenase deficiency
EHaemochromatosis
FHaemophilia A
GImmune thrombocytopenia
HPolycythaemia
IPyruvate Kinase deficiency
JSickle Cell anaemia
Select the most appropriate haematological diagnosis from the above list that best explains
the following scenarios.
May be a consequence of parvovirus infection.
Correct
May present with a characteristic skin pigmentation and is secondary to multiple transfusions.
Correct
Occurs as a result of a congenital defect of the red cell membrane.
Correct
Aplastic anaemia or bone marrow aplasia results in anaemia, neutropenia and thrombocytopenia. It may be
congenital for example Fanconi's anaemia or acquired for example as a result of infection with for example
Parvovirus infection or due to drugs such as Chloramphenical, Sulphonamides or Chemotherapy.
Haemochromatosis occurs when the structure or function of organs is deranged because of excessive Iron
storage. Patients may exhibit bronzed skin and may develop hepatitis or diabetes. Treatment requires chelation.
Elliptocytosis is similar to spherocytosis in that the red blood cells exhibit a defect in the membrane. In
Elliptocytosis the red blood cells are oval and the condition is benign. Haemolysis occurs with some forms of the
disease.
Theme:Syncope.
AArrhythmia
BBreath-holding, blue
CBreath-holding, white
DHypertrophic cardiomyopathy
45
EHypoglycaemia
FHypotention, vasovagal
GHypotension, orthostatic
HSeizure
ITumour, brain
An 8-year-old girl presents with loss of consciousness and occasional awareness of heartbeat.
She has been deaf from birth.
Correct
The 8-year-old girl has deafness and palpitations, followed by syncope. The most likely
diagnosis is the Jervell-Lange-Neilsen variant of long QT syndrome. The milder form is the
Romano-Ward syndrome.
A 13-year-old girl was found unconscious one Sunday morning whilst in bed. She had wet
herself and took 30 minutes to recover completely.
Correct
The 13-year-old girl has had a generalised seizure as suggested by incontinence and the
prolonged recovery.
An 18 month old boy is referred with loss of consciousness on 6 occasions. Each was preceded
by a tantrum.
Correct
The 18 month old boy has blue breath-holding episodes. These should be distinguished from
white breath-holding, which is an extreme vagal response resulting in transient asystole.
Theme:Childhood malignancies
ABurkitt's nasopharyngeal carcinoma

BEwing sarcoma
CHepatocellular carcinoma
46
DHodgkin's lymphoma
EMelanoma
FNesidioblastosis
GNeuroblastoma
HTeratoma
IWilm's tumour
JXeroderma pigmentosum
Select the most appropriate oncological diagnosis from the above list of options to explain the
following scenarios
A 13-year-old boy presents with abdominal pain. An abdominal mass is found. This boy has a
past medical history of biliary atresia.
Incorrect - The correct answer is Hepatocellular carcinoma
A malignant transformation of a skin resulting from an autosomal recessive condition.
Correct
A baby on the neonatal unit is found to be hypoglycaemic.
Correct
Hepatoblastoma is a malignant liver tumour. It may present with anorexia, abdominal mass and jaundice. It is
associated with cirrhosis as well as biliary cirrhosis secondary to biliary atresia. Xeroderma pigmentosa is an
autosomal recessive condition of defective DNA repair. Skin damage arise and malignant transformation results at
multiple sites. Nesidioblastosis is also known as beta cell endocrine benign hyperplasia and affects the pancreas.
Diagnosis is made by hypoglycaemia with high serum Insulin and treatment is by Pancreatectomy.
Theme:Haematological Disorders
AAplastic anaemia
BBeta Thalassaemia Major
CElliptocytosis
DGlucose 6 Phosphate dehydrogenase deficiency
EHaemochromatosis
FHaemophilia A
GImmune thrombocytopenia
HPolycythaemia
IPyruvate Kinase deficiency
JSickle Cell anaemia
Select the most appropriate haematological diagnosis from the above list that best explains
the following scenarios.
47
May be exacerbated by exposure to anti-malarial therapy
Correct
Characterised by the overgrowth of bones of the face.
Correct
May be an associated feature of congenital cyanotic heart disease.
Correct
Glucose-6-phosphate dehydrogenase deficiency is an episodic haemolytic anaemia which can be exacerbated by

certain drugs, in particular anti-malarial therapy. There is a racial difference in prevalence. Laboratory findings
include low levels of G6PD and Heinz bodies present in the red blood cells. Thalassaemia is a group of
hypochromic anaemia's due to abnormalities of globin chain synthesis. Regular blood transfusions are necessary
and clinical features include compensatory hypertrophy of erythropoietic tissue in medullary and extra medullary
spaces. For example liver, spleen and the marrow in the face which results in characteristic facies. Polycythaemia
exists when red blood cell count, Haemoglobin and haematocrit exceed the upper limits of normal and may co-
exist with chronic oxygen desaturation states, for example cyanotic cardiovascular and pulmonary disease.
Theme:Splenomegaly
AAcute leukaemia
BAutoimmune haemolytic disease
CCytomegalovirus infection
DEbstein-Barr virus infection
ENeoplasia
FHistiocytosis
GRed cell enzyme defect
HRed cell membrane defect
IToxoplasmosis
A 14-year-old boy presents with a 4 day history of fever and difficulty in swallowing. On
examination he has a scanty erythematous rash, tonsillar pus, tender cervical nodes and 3cm
splenomegaly.
Correct
The 14-year-old has a mononucleosis-like illness which is most likely due to EBV.
48
A 9 month old boy presents with pallor. On examination he appears well, has a tinge of
jaundice and a 3cm spleen.
Incorrect - The correct answer is Red cell membrane defect
The 9 month old has haemolysis, most likely hereditary spherocytosis. In some parts of the
world (eg Mediterranean) G6PD deficiency may be more common.
A 3-year-old girl presents with fever, weight loss and irritability. On examination he has a
temperature of 38.4oC, neck stiffness, 4cm hepatomegaly and 5cm splenomegaly. There are
lytic lesions on skull x-ray.
Incorrect - The correct answer is Histiocytosis
The 3-year-old girl probably has a malignancy, and the presentation is characteristic of
histiocytosis.
In the differential diagnosis of splenomegaly the first thing is to establish whether there is an associated
infection. If not then an FBC and film should be done. This may reveal underlying haemolysis, atypical
lymphocytes or blast cells. If normal an USS abdomen will be helpful in identifying congestion, neoplasia,
connective tissue or storage disorders.
Theme:Bleeding disorders
AAntithrombin III deficiency

BCongenital afibrinogenaemia
CHaemophilia A
DHaemophilia B
EHaemophilia C
FIdiopathic thrombocytopenic purpura
GProtein C deficiency
HProtein S deficiency
IVitamin K deficiency
JVon Willebrands disease
Choose the most appropriate diagnosis from the above list that best describes the following
coagulation abnormalities.
Normal Prothrombin time. Elevated thromboplastin time, factor 9 deficiency.
Correct
49
Haemophilia B also known as Christmas disease is an X linked recessive disorder. It is as a
result of low Factor 9 levels.
Prolonged Prothrombin time and partial thromboplastin time, normal bleeding time and
fibrinogen.
Correct
Item 2 describes Vitamin K deficiency which is necessary for carboxylation of factors 2, 7 ,9

and 10.
Bruising and petechiae over lower extremities with low platelets.
Correct
fits the diagnosis of idiopathic thrombocytopenic purpura. A condition associated with

mucocutaneous bleeding and petechiae often secondary to viral infections and the platelet
count is less than 20 x 10/9. Treatment options include steroids and gammaglobulin.
Theme:Malignancy
AAcute leukaemia
BEwing's Osteosarcoma
CLymphoma
DMelanoma
ENeuroblastoma
FRetinoblastoma
GSarcoma
HThyroid cancer
ITesticular seminoma
JWilm's tumour
Select the most appropriate choice from the above list for the following scenarios.
A condition which affects children under the age of 3, associated with a genetic locus on
Chromosome 13.
Incorrect - The correct answer is Retinoblastoma
50
A tumour known that is recognised to spontaneously regress.
Incorrect - The correct answer is Neuroblastoma
A jaundiced baby on the postnatal ward is described as having blueberry muffin spots on the
skin.
Incorrect - The correct answer is Acute leukaemia
Retinoblastoma is a tumour in the posterior part of the retina. It is associated with a deletion of the long arm of
chromosome 13. The average age of diagnosis is 8 months for bilateral involvement ands 24 months for unilateral
involvement. It may present with leucocoria, visual loss or a squint. A Neuroblastoma may arise anywhere where
neural crest cells migrate. The median age of diagnosis is approximately 2. In babies less then 1 year of age or in
the early stages of tumour development spontaneous regression has been known to occur. Acute lymphoblastic
leukaemia is the commonest malignancy of childhood. Initial symptoms may be non-specific for example lethargy
and irritability. Ultimately there is bone marrow failure which presents with pallor, thrombocytopenia and
neutropenia. Diagnosis is made by seeing blasts on a peripheral smear There may be anaemia, thrombocytopenia
and the white cell count may be raised or low. Babies born with congenital leukaemia have lesions over the skin
which are described as being similar to blueberry muffins spots
Theme:Bleeding disorders
AAntithrombin III deficiency

BCongenital afibrinogenaemia
CHaemophilia A
DHaemophilia B
EHaemophilia C
F Idiopathic thrombocytopenic purpura
GProtein C deficiency
HProtein S deficiency
IVitamin K deficiency
JVon Willebrands disease
Choose the most appropriate diagnosis from the above list that best describes the following
coagulation abnormalities.
An autosomal dominant disorder, characterised by thrombotic events.
Incorrect - The correct answer is Antithrombin III deficiency
Antithrombin 3 deficiency prolonged in occlusion of blood vessels with platelet plugs resulting
in thrombotic events.
51
Prolonged partial thromboplastin time, normal Prothrombin time. factor 8 deficiency
Correct
Haemophilia A results due to low factor 8 levels. The severity of the illness depends on the
level of activity and patients often present with haemarthrosis.
An autosomal dominant disorder associated with a prolonged bleeding time.
Correct
describes Von Willebrand's disease an autosomal dominant condition which results in

prolonged bleeding due to low Von Willebrand factor, which is needed for platelet aggregation.
There is a prolonged bleeding time and treatment with FFP is sometimes required.
Theme:Malignancy
AAcute leukaemia
BEwing's Osteosarcoma
CLymphoma
DMelanoma
ENeuroblastoma
FRetinoblastoma
GSarcoma
HThyroid cancer
ITesticular seminoma
JWilm's tumour
Select the most appropriate choice from the above list for the following scenarios
A 3-year-old with pallor, bruising and hepatosplenomegaly.
Correct
A 16-year-old with shortness of breath and night sweats and a cervical lymphnode.
52
Correct
A 4-year-old known to have a deletion of Chromosome 11 presents with an abdominal mass.
Correct
Acute lymphoblastic leukaemia is the commonest malignancy of childhood. Initial symptoms may be non-specific
for example lethargy and irritability. Ultimately there is bone marrow failure which presents with pallor,
thrombocytopenia and neutropenia. Diagnosis is made by seeing blasts on a peripheral smear There may be
anaemia, thrombocytopenia and the white cell count may be raised or low. Babies born with congenital leukaemia
have lesions over the skin which are described as being similar to blueberry muffins spots. Lymphoma is divided
in to Hodgkin's and Non-Hodgkin's lymphoma. It arises in lymph nodes and enlarged nodes may be firm and non-
tender. Mediastinal involvement may cause a chronic cough or bronchial / tracheal compression. Symptoms
include night sweats, persistent fever and weight loss . Wilm's tumour is a solitary growth in a part of the kidney.
It is associated with deletions of chromosome 11 (the probable location of the tumour suppression gene). It may
present with an abdominal mass or haematuria. It is also associated with genital urinary anomalies, aniridia,
hemihypertrophy and Beckwith-Wiedemann syndrome.
Theme:Mode of inheritance
AAutosomal co-dominant
BAutosomal dominant
CAutosomal recessive
DPolygenic
ESingle gene defect
FX linked dominant
GX linked recessive
Select the most likely mode of inheritance for the following patients conditions:
A 17 -year old female developed Insulin dependent diabetes mellitus. Her uncle and
grandmother also had diabetes mellitus
Incorrect - The correct answer is Polygenic
There is no specific mode of inheritance associated with diabetes mellitus, except in a few rare
disorders where it is associated with Mitochondrial inheritance such as DIDMOAD
syndrome/Refsums disease. The inheritance is therefore considered polygenic many genes
contributing rather than one single gene defect.
A 4-year old male child presents with mild jaundice, pallor and a palpable spleen tip. His father
has had a work up for anaemia.
53
Correct
This child has hereditary spherocytosis, which has an autosomal dominant inheritance pattern.
A 14-year old boy presents with increasing instability, ataxia and tremor with recurrent
respiratory and sinus infections. On examination he has prominent capillaries on his sclerae.
Incorrect - The correct answer is Autosomal recessive
The 14-year-old male has the typical features of ataxia telangiectasia. It is a rare disorder of
childhood that occurs in about 1/40,000 and 1/100,000 persons worldwide. The ailment is
progressive. By their teens, patients with A-T are frequently wheelchair-bound.
A 4-year old boy developed swelling of his left knee with trivial injury. He had similar episodes
like this before. His grandfather had the same disease
Correct
The 4-year-old boy's case is typical of Haemophilia A or possibly B (Christmas disease).

Haemophilia A often presents at a young age with spontaneous bleeding into a joint. The level
of Factor VIII (A) or IX (B) in the blood determines the severity of Haemophilia. Factor Levels
of less than 1-2% are found in subjects with severe haemophilia and experience spontaneous
bleeds into joints or muscles. Both are X-linked recessive inheritance.
An 18-year old female underwent caries tooth extraction and developed profuse bleeding. On
history she revealed menorrhagia. Her mother and her grandfather had the same disease
Incorrect - The correct answer is Autosomal dominant
The 18-year-old female with a bleeding tendency following dental procedures together with
menorrhagia suggests von Willebrand disease which is due to a deficiency of von Willebrand
Factor and is inherited in an autosomal dominant pattern with variable penetrance most
commonly but rarely can be recessive. Von Willebrand's disease is the most common
hereditary bleeding disorder. It affects both sexes approximately equally. Most cases are mild,
and bleeding may occur after a surgical procedure/ tooth extraction and it is also associated
with menorrhagia
Theme:Chemotherapy
A6-Mercaptopurine
BActomyosin D
54
CAsparaginase
DBleomycin
ECisplatin
FCyclophosphamide
GCytosine arabinoside
HDoxorubicin
IMethotrexate
JVincristine
Select the most appropriate chemotherapeutic agent from the above list that corresponds with
the following actions and side effects:
An alkylating agent resulting in haemorrhagic cystitis.
Incorrect - The correct answer is Cyclophosphamide
A drug inhibiting protein synthesis may result in a dose related Pancreatitis.
Incorrect - The correct answer is Asparaginase
An anthracycline with a serious risk of cardio-toxicity.
Incorrect - The correct answer is Doxorubicin
All cytotoxic agents have adverse effects. General side-effects include nausea, vomiting and
bone marrow suppression, alopecia and stomatitis. More specific side-effects are listed in the
questions above. Alkylating agents such as Cyclophosphamide may cause a haemorrhagic
cystitis. Asparaginase results in a dose related Pancreatitis.
The anthracyclines e.g. Doxorubicin and Daunorubicin are cardiotoxic, which is often very
difficult to detect. Monitoring with echocardiograms is advised.
Vincristine is an alkaloid agent and results in sensory motor neuropathy with long-term use. It
also has an affect on the autonomic system resulting in severe constipation and paralytic ileus.
It may also result in sensory changes with parathesis progressing to loss of tendon reflexes.
Bleomycin is the main drug resulting in lung damage and occurs in up to 10% of patients. The
damage is dose related.
Theme:Blood disorders
55
AAplastic Anaemia
BBernard - Soulier Syndrome
CGiant Platelet Syndrome
DGlanzmanns Syndrome
EIdiopathic Thrombocytopaenic Purpura
FKasabach Meritt Syndrome
GKlippel Trenaunay Webber Syndrome
HMay Hegglin Anomaly
IWiskott Aldrich Syndrome
JThrombotic Thrombocytopaenic Purpura
For each scenario outlined below, choose the most likely diagnosis from the list above.
A 4-year-old boy is referred to clinic because of pallor and lethargy. He is found to have a
haemoglobin of 9g/dl, a white cell count of 1.5 and a platelet count of 55.
Correct
A 14-year-old presents with a history of easy bruising. He is noted to have multiple

haemangiomata and his right leg is 3cm longer than the left.
Correct
A 9 month old baby is brought to clinic with a history of unexplained bruising. Haematological
studies reveal mild thrombocytopaenia with large platelets seen on film .The bleeding time is
prolonged.
Incorrect - The correct answer is Bernard - Soulier Syndrome
Kasabach Meritt syndrome is a condition characterized by limb hemihypertrophy and giant haemangiomata. There
may be thrombocytopaenia and clotting abnormalities.
Bernard Soulier is a rare autosomal disorder characterized by moderate thrombocytopaenia

and large platelets. Platelet aggregation studies are required to demonstrate the deficiency of
the membrane receptor. Large platelets are also seen in May Hegglin anomaly whilst small
platelets occur in the Wiskott- Aldrich syndrome. Aplastic anaemia results from bone marrow
failure, leading to anaemia, neutropaenia and thrombocytopaenia.. Pancytopaenia may be
congenital ( Fanconi syndrome) or acquired (drugs ,eg chemotherapy, chloramphenicol ). Bone
marrow examination is essential.
Theme:Renal masses.
56
APerinephric abscess
BPolycystic kidney disease
CPosterior urethral valves
DPrune-belly syndrome
ERenal cystic dysplasia
FRenal vein thrombosis
GSimple renal cyst
HUreterocoele
IWilms tumour
For each of the following case scenarios select the most likely diagnosis from the list above:
On first day check a day old boy is noted to have mass centrally below the umbilicus which is
dull to percussion.
Correct
In the neonate, a palpable bladder should prompt an urgent scan to exclude posterior urethral
valves.
A 9 month old girl presents with a high fever. A tender mass is palpable in the right flank.
Urine dipstix is positive for blood and leukocytes.
Correct
In the 9 month old girl the symptoms and signs suggest an upper pole renal infection, with
perinephric abscess being most likely.
A 3 month old boy presents with abdominal mass in the left flank. Urine dipstix is positive for
blood.
Incorrect - The correct answer is Wilms tumour
In the 3 month old boy, haematuria and renal mass without fever suggest Wilms' tumour. This
may be associated with aniridia and hemihypertrophy.
Theme:Chemotherapy
A6-Mercaptopurine
BActomyosin D
CAsparaginase
DBleomycin
ECisplatin
57
FCyclophosphamide
GCytosine arabinoside
HDoxorubicin
IMethotrexate
JVincristine
Select the most appropriate chemotherapeutic agent from the above list that corresponds with
the following actions and side effects:
A drug disrupting microtubule leading to loss of deep tendon reflexes.
Incorrect - The correct answer is Vincristine
A drug inhibiting initiation of DNA synthesis resulting in conjunctivitis and cerebellar toxicity.
Incorrect - The correct answer is Cytosine arabinoside
A drug resulting in dose related lung damage.
Incorrect - The correct answer is Bleomycin
All cytotoxic agents have adverse effects. General side-effects include nausea, vomiting and
bone marrow suppression, alopecia and stomatitis. More specific side-effects are listed in the
questions above. Alkylating agents such as Cyclophosphamide may cause a haemorrhagic
cystitis.Asparaginase results in a dose related Pancreatitis.
The anthracyclines e.g. Doxorubicin and Daunorubicin are cardiotoxic, which is often very
difficult to detect. Monitoring with echocardiograms is advised. Vincristine is an alkaloid agent
and results in sensory motor neuropathy with long-term use. It also has an affect on the
autonomic system resulting in severe constipation and paralytic ileus. It may also result in
sensory changes with parathesis progressing to loss of tendon reflexes. Bleomycin is the main
drug resulting in lung damage and occurs in up to 10% of patients. The damage is dose
related.
Theme:Anaemia
AABO incompatibility
BAcute leukaemia
CAnaemia of chronic disease
58
DAplastic anaemia
EFanconi anaemia
FIron deficiency anaemia
GRed cell enzyme defect
HRed cell membrane defect
IRhesus disease
A 4 week old baby presents with pallor. Term 3.2kg no complications. On examination she
looks sallow but otherwise well. Haemoglobin 7.3g/dl, White cell count 8.4x10 9/l, Platelets
235x109/l, Reticulocytes 4%, Coombs positive. Mothers group O positive, infant A positive.
Total serum Bilirubin 45 micromol/l, conjugated bilirubin 8 micromol/l. Other Liver function
tests normal.
Incorrect - The correct answer is ABO incompatibility
In the 4 week old baby there is evidence of haemolysis, and, since mother and baby share the
same rhesus type, ABO incompatibility is most likely.
A 5-year-old girl with known Still's disease for 2 years presents with pallor. Haemoglobin 8.5
g/dl, White cell count 7.9x109/l Platelets 434x109/l, MCV 81 with Reticulocytes 1.1%.
Correct
In the 5-year-old girl, anaemia of chronic disease is most likely, though NSAIDs may be
responsible for blood loss.
A 6-year-old girl presents with pallor and bruising. Haemoglobin 7.3 g/dl, White cell count
2.3x109/l, Platelets 84x109/l. Blood film: No blasts seen. Reticulocytes 0.4%. Bone marrow is
hypocellular.
Correct
In the 6-year-old girl there is pancytopaenia. This is most likely aplastic anaemia, though an
aplastic presentation of leukaemia is also possible.
In the investigation of anaemia an FBC, film and reticulocyte count are often sufficient for diagnosis. If
reticulocyte count is <2% then underproduction is present. The MCV helps to divide this into low, normal and
high MCV groups. If reticulocyte count is >2% then consumption is present, with haemolysis or blood loss being
the two groups to consider.
59
Theme:Diagnosis of neonatal jaundice.
AABO incompatibilty
BBreast milk jaundice
CCephalhematoma
DDrug allergy
EExtrahepatic biliary atresia
FGalactosaemia
GG6PD Deficiency
HNeonatal sepsis
IPhysiological jaundice
JRH Incompatibility
For each of these jaundiced babies below choose from the list above the single most likely
diagnosis. Each option may be chosen more than once or not at all.
A mother has blood group A Rhesus positive. Her baby is blood group B Rhesus negative.
Incorrect - The correct answer is ABO incompatibilty
This mother would produce antibodies to the baby's B blood group and hence haemolysis with
jaundice occurs.
A neonate is severely jaundiced with reducing substances noted on urine dipstick.
Incorrect - The correct answer is Galactosaemia
A typical picture of . In the newborn period, infants present with an acute encephalopathy. In
untreated patients, there is severe liver disease, mental retardation, epilepsy and
choreoathetosis.
A 4 day old baby is well but has a tinge of jaundice.
Correct
Common in the first week of life.
A breast fed 3 week old baby has mild jaundice but is gaining weight satisfactorily.
60
Correct
Common from the 2nd to 5th days of life.
A 12 day old baby is jaundiced with pale stools.
Incorrect - The correct answer is Extrahepatic biliary atresia
. is a progressive inflammatory process that begins very soon after birth. On average, there is
one case of biliary atresia out of every 15,000 live births. Females are affected slightly more
often than males. In the United States, approximately 300 new cases are diagnosed each year.
Theme:Bleeding/bruising.
ABernard-Soulier syndrome
BChild abuse
CChronic liver disease
DDisseminated intravascular coagulation
EEhlers Danlos syndrome
FGlanzmann thrombasthenia
GUraemia
HVitamin K deficiency
IVon Willebrand disease
A 3 month old breast fed infant presents with fits and bruising. Haemoglobin 10.4 g/dl, White
cell count 7.6x109/l, Platelets 298x109/l. Blood film Normal. Prothrombin time ratio 2.3. Factor
VIII and IX activity normal. Factors II, V, VII and X activity reduced.
Correct
In 2 month old infant the low levels of II,V, VII, IX suggest vitamin K deficiency, with late-
onset haemorrhagic disease most likely.
A 2-year-old girl presents with 12 hour history of lethargy, fever and bruising. Haemoglobin
11.2 g/dl, White cell count 4.5x109/l, Platelets 43x109/l, prothrombin time ratio 2.2, Activated
partial thromboplastin time ratio 1.9. Thrombin Time 15s. Fibrinogen 0.9 g/l
Correct
61
In the 2-year-old girl the generalised abnormalities suggest DIC in relation to severe infection
(eg meningococcal disease).
A 3-year-old boy presents with easy bruising and tissue-paper scars. Haemoglobin 12.1 g/dl
White cell count 8.3x109/l, Platelets 275 x 109/L, with normal blood film. Bleeding time is
elevated with normal von Willibrand factor activity.
Incorrect - The correct answer is Ehlers Danlos syndrome
In 3-year-old boy, the clinical appearance plust elevation of bleeding time with normal
platelets and film suggest Ehlers Danlos. Without the tissue-paper scars Glanzmann would
have to be considered.
In the assessment of bleeding or bruising an FBC, blood film, and clotting screen will make the diagnosis in most
cases. Low platelets (thrombocytopaenia) are usually due to infection, ITP or leukaemia. Prolonged bleeding time
may be due to von Willibrand's, platelet or connective tissue disorders. Raised APPT suggest specific clotting
disorder, raised PT liver or vitamin K problems, and raised TT hepatic or renal disease. Generalised abnormalities
are found in DIC and liver disease. If all tests are normal then Child abuse or Ehlers Danlos should be considered.
Theme:Congenital alopecia.
AAplasia cutis
BEpidermal naevus
CHair follicle hamartoma
DHallermann-Strief syndrome
EHypomelanosis of Ito
FIncontinentia pigmenti
GSebaceous naevus
HTriangular alopecia of scalp
IVascular naevus
A 6 day old girl presents with a spiral-shaped rash on the trunk consisting of erythema and
fluid-filled vesicles.
Incorrect - The correct answer is Incontinentia pigmenti
The 6 day old girl is characteristic of incontinentia pigmenti. The lesions are hyperpigmented
or vesicular and follow Blashko's lines.
62
A 2 week old boy presents with hypopigmented marbled streaks over the shoulder.
Correct
The 2 week old boy is hypomelanosis of Ito, another condition where lesions follow Blashko's
lines.
At the first day check a male infant is noted to have an uninflamed 2cm oval ulcer on the
scalp.
Correct
The male infant has aplasia cutis. This may be associated with chromosomal disorders eg
Patau and is rarely reported in association with the administration of carbimazole during
pregnancy. Examine the affected child carefully for other defects, arrange USS of head and
kidneys, send of chromosomes, and arrange a genetics opinion
63

Hematology Mcqs

Hochgeladen von

Dokumentinformationen

Copyright

Verfügbare Formate

Dieses Dokument teilen

Dokument teilen oder einbetten

Freigabeoptionen

Stufen Sie dieses Dokument als nützlich ein?

Sind diese Inhalte unangemessen?

Copyright:

Verfügbare Formate

Hematology Mcqs

Hochgeladen von

Copyright:

Verfügbare Formate

Question: 1 of 100 / Overall score: 100%

In a patient with a haemolytic anaemia, e.g. hereditary spherocytosis:

The bilirubin will be fat soluble Correct

The diagnosis will be confirmed by the presence of bilirubin in the urine

the patient may have an increased reticulocyte count Correct

Read more about Haemolytic anaemia on e-Medicine...

Question: 2 of 100 / Overall score: 100%

Autosomal recessive polycystic disease Correct

Tuberous sclerosis Correct

Wilm's tumour Correct

Autosomal dominant polycystic kidney disease Correct

Unilateral: multicystic kidneys, compensatory hypertrophy, obstructive

Question: 3 of 100 / Overall

Purpura Incorrect answer selected

Reduced Factor VIII level Correct

Prolongation of bleeding time Correct

Question: 4 of 100 / Overall score: 95%

Occurs sporadically and in a familial form. Correct

Does not respond to chemotherapy or radiotherapy. Correct

Can be inherited as an autosomal dominant condition with variable

Is fatal in 50% of cases in the U.K. using current treatment protocols.

Retinoblastoma is the commonest primary malignant intraoccular tumour of childhood

Leukcoria: white pupillary reflex.

Question: 5 of 100 / Overall score: 96%

May present with bone pain Correct

Commoner in adolescence than the toddler age group Correct

Strong familial incidence Correct

Myeloid leukaemia is commoner than lymphoblastic leukaemia Correct

Question: 6 of 100 / Overall score: 90%

Churg-Strauss Syndrome Correct

Allergic bronchopulmonary aspergillosis Correct

Malaria Incorrect answer selected

Hodgkin's lymphoma Incorrect answer selected

Polyarteritis nodosa Correct

Loeffler's Syndrome is characterised by widespread transitory pulmonary infiltrations which

Possible underlying causes include:

The differential diagnosis includes:

Chronic eosinophilic pneumonia.

Question: 7 of 100 / Overall

Haemoglobin 8 g/dL (12-16)

Reticulocyte Count 6% (0.5-2.4)

Iron deficiency anaemia Correct

Beta thalassaemia major Correct

Glucose-6-Phosphate Dehydrogenase deficiency Correct

Chloramphenicol toxicity Correct

Gastro-intestinal bleeding Correct

Question: 8 of 100 / Overall score: 95%

A reduction in the absolute neutrophil count is associated with:

HIV infection Correct

Preeclampsia in the mother Incorrect answer selected

Diabetic ketoacidosis Correct

Pernicious anaemia Incorrect answer selected

Neutropenias may be transient or chronic.

Transient causes include:

In the neonate it may be associated with maternal hypertension.

Other: related to cancer or HIV infection

Question: 9 of 100 / Overall score: 91%

Is raised in acute rheumatoid arthritis. Incorrect answer selected

Stores 95% of the body's iron. Incorrect answer selected

Is a useful measurement of iron storage in the body. Correct

Is increased in hepatoma. Correct

In progressive iron deficiency, a sequence of biochemical and haematological events occurs:

Question: 10 of 100 / Overall score: 90%

The following are recognised complications of treatment of acute lymphoblastic leukaemia