33.

(E) Pulmonary stenosis as a result of valve dysplasia is the most common

cardiac abnormality in Noonan syndrome and is associated, in approximately
50% of cases. Surgery is the treatment of choice because of valve dysplasia.
34.(E) In a neonate with critical pulmonic stenosis, urgent treatment by either
balloon valvuloplasty or surgical valvotomy is warranted. The condition which
can present in similar way is persistent pulmonary hypertension but smooth
delivery make this possibility is unlikely.
35.(A) The anomaly occurs twice as often in males as in females. Coarctation of
the aorta may be a feature of Turner syndrome and is associated with a bicuspid
aortic valve in >70% of patients. Mitral valve abnormalities (a supravalvular
mitral ring or parachute mitral valve) and subaortic stenosis are potential
associated lesions. When this group of left sided obstructive lesions occurs
together, they are referred to as the Shone complex.
36.(C) Postcoarctectomy Syndrome; Postoperative mesenteric arteritis may be
associated with acute hypertension and abdominal pain in the immediate
postoperative period. The pain varies in severity and may occur in conjunction
with anorexia, nausea, vomiting, leukocytosis, intestinal hemorrhage, bowel
necrosis, and small bowel obstruction. Relief is usually obtained with
antihypertensive drugs (e.g.,nitroprusside, esmolol, captopril) and intestinal
decompression; surgical exploration is rarely required for bowel obstruction or
infarction.
37.(B) Severe neurologic damage or even death may rarely occur from
associated cerebrovascular disease. Subarachnoid or intracerebral hemorrhage
may result from rupture of congenital aneurysms in the circle of Willis, rupture
of other vessels with defective elastic and medial tissue, or rupture of normal
vessels; these accidents are secondary to hypertension.
38.(E) If congenital mitral stenosis is moderate to severe, symptoms usually
appear within the 1st 2 yr of life. These infants have failure to thrive and various
degrees of dyspnea and pallor. In some patients, wheezing may be a dominant
symptom, and a misdiagnosis of bronchiolitis or reactive airway disease may
have been made. Heart enlargement because of dilation and hypertrophy of the
right ventricle and left atrium is common. Most patients have rumbling apical
diastolic murmurs, but the auscultatory findings may be relatively obscure. S2 is
loud and split. An opening snap of the mitral valve may be present. The ECG
reveals RVH and may show bifid or spiked P waves indicative of left atrial
enlargement. Radiographs usually show left atrial and RV enlargement and
pulmonary congestion in a perihilar or venous pattern.

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39.(D) Congenital absence of the pulmonary valve is usually associated with a
ventricular septal defect (VSD), often in the context of tetralogy of Fallot. In
many of these neonates, the pulmonary arteries become widely dilated and
compress the bronchi, with subsequent recurrent episodes of wheezing,
pulmonary collapse, and pneumonitis. The presence and degree of cyanosis are
variable. Florid pulmonary valvular incompetence may not be well tolerated,
and death may occur from a combination of bronchial compression, hypoxemia,
and heart failure
40.(C) Mitral valve prolapse results from an abnormal mitral valve mechanism
that causes billowing of 1 or both mitral leaflets, especially the posterior cusp,
into the left atrium toward the end of systole. The abnormality is predominantly
congenital but may not be recognized until adolescence or adulthood. Mitral
valve prolapse is usually sporadic, is more common in girls, and may be
inherited as an autosomal dominant trait with variable expression. This lesion is
not progressive in childhood, and specific therapy is not indicated. Antibiotic
prophylaxis is no longer recommended during surgery and dental procedures.
41.(A) Tricuspid regurgitation is seen in up to 30% of children after heart
transplantation, which can be a risk factor for graft dysfunction.
42.(C) Uncommon immediate postoperative problems include RV failure,
transient heart block, residual VSD with left-to-right shunting, and myocardial
infarction from interruption of an aberrant coronary artery. Scenario shows
classical features of myocardial infarction results from interruption of an
aberrant coronary artery, the anomaly that is present in about 5-10% of TOF
cases.
43.(A) The key for diagnosis in this scenario is association of cyanosis with
superior axis or left axis and the age of presentation which fits tricuspid atresia;
AV canal have the same ECG finding but neither the age nor the associated
cyanosis is fitting.
44.(A) The next stage of palliation for patients with tricuspid atresia involves the
creation of an anastomosis between the superior vena cava and the pulmonary
arteries (bidirectional Glenn shunt). This procedure is performed usually
between 2 and 6 mo of age.
45.(D) The cardiovascular imaging signs of congenital anomalies that are most
often seen in radiologic practice include, egg on a string (side) in transposition
of the great arteries, snowman in total anomalous pulmonary venous return,
Scimitar in partial anomalous pulmonary venous return, Gooseneck in
endocardial cushion defect, figure of three and reverse figure of three in aortic

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coarctation, boot-shaped heart in tetralogy of Fallot, box-shaped heart in
Ebstein anomaly.
46.(C) The arterial switch (Jatene) procedure is the surgical treatment of choice
for neonates with d-TGA and an intact ventricular septum and is usually
performed within the first 2 weeks of life. The reason for this time frame is that
as PVR declines after birth, pressure in the left ventricle (connected to the
pulmonary vascular bed) also declines. This pressure drop results in a decrease
in left ventricular (LV) mass over the first few weeks of life. If the arterial switch
operation is attempted after LV pressure (and mass) has declined too far, the
left ventricle will be unable to generate adequate pressure to pump blood to
the high pressure systemic circulation.
47.(A) Sano and Norwood procedures are used for hypoplastic left heart
syndrome.
48.(A) In double-outlet right ventricle without pulmonary stenosis, both the
aorta and the pulmonary artery arise from the right ventricle. The only outlet
from the left ventricle is through a VSD. In the absence of obstruction to
pulmonary blood flow, clinical manifestations are similar to those of an
uncomplicated VSD with a large left-to-right shunt. Systemic desaturation may
result from mixing of oxygenated and deoxygenated blood in the right ventricle.
49.(D) Infracardiac type associated with obstruction in 95-100% of cases.
50.(C) In neonates with marked pulmonary venous obstruction, the chest
radiograph demonstrates a very dramatic perihilar pattern of pulmonary edema
and a small heart. In option A the presentation is usually similar but the cardiac
shadow is normal or increased with decreased to normal perihilar shadow. In
option B the patient is usually preterm baby. In C it is typical for TAPVR with
obstruction. In D neither antenatal history nor CXR finding are suggestive. In E it
is ductal dependent so the presentation will be later (after few days).
51.(D) Obstructed TAPVR is a pediatric cardiac surgical emergency because
prostaglandin therapy is usually not effective. Option B, C, and E all are
important supportive measures but delay in decision taken in such situations
may lead to death.
52.(C) This is the classical presentation of TAPVR without obstruction. In most
cases without obstruction, the heart is enlarged, the pulmonary artery and right
ventricle are prominent, and pulmonary vascularity is increased. Demonstration
of any vein with Doppler flow away from the heart is pathognomonic of TAPVR.
Option A, B, and D have similar course of events with some differences in the
clinical findings.

455
53.(E) This is classical presentation of LHHS when shock and signs of heart
failure dominate the clinical picture, ECG usually shows right ventricular
dominance with absent left ventricular forces. This lesion may be isolated or
associated in 5–15% of patients with known genetic syndromes, such as Turner
syndrome, trisomy 13, 18, or 21, Jacobsen syndrome (11q deletion), Holt-Oram
syndrome, and Rubinstein-Taybi syndrome. In these circumstances, noncardiac
manifestations of the syndrome may be evident and influence the clinical
outcomes. Occasionally it is familial and inherited as an autosomal recessive
trait.
54.(B) Serial fetal echocardiographic studies demonstrate that in some fetuses,
HLHS may be a progressive in utero lesion, beginning with simple valvar aortic
stenosis in midgestation. The decreased flow through the stenotic aortic valve
reduces flow through the left ventricle during development, resulting in gradual
ventricular chamber hypoplasia. The potential for preventing this hypoplasia has
been demonstrated by performing in utero aortic balloon valvuloplasty in
midgestation fetuses. Early results are encouraging, although even if the aortic
valve is successfully opened, adequate ventricular growth occurs in only about
30% of patients. At present, this procedure is regarded as experimental.
55.(D) If the vascular ring produces compression of the trachea and esophagus,
symptoms are frequently present during infancy. Chronic wheezing is
exacerbated by crying, feeding, and flexion of the neck. Extension of the neck
tends to relieve the noisy respiration. Vomiting may also be a component.
Affected infants may have a brassy cough, pneumonia, or rarely, sudden death
from aspiration. Echocardiography in combination with either MRI or CT used
for diagnosis.
56.(E) In anomalous origin of the left coronary artery from the pulmonary artery
(ALCAPA ), the blood supply to the left ventricular (LV) myocardium is severely
compromised. Soon after birth, as pulmonary artery pressure falls, perfusion
pressure to the left coronary artery (LCA) becomes inadequate; myocardial
ischemia, infarction, and fibrosis result. In some cases, interarterial collateral
anastomoses develop between the right coronary artery (RCA) and LCA. Blood
flow in the LCA is then reversed, and it empties into the pulmonary artery, a
condition known as the “myocardial steal” syndrome. The left ventricle
becomes dilated, and its performance is decreased. Mitral insufficiency is a
frequent complication secondary to a dilated valve ring or infarction of a
papillary muscle.
57.(D) This description is fit for all the mentioned distracters with only minor
changes. The echocardiography and cardiac catheterization can differentiate
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between different types of left-sided obstructive lesions (pulmonary venous
stenosis, mitral stenosis, restrictive cardiomyopathy) that result in pulmonary
venous hypertension. The presence of pulmonary arterial hypertension (PAH)
with a normal pulmonary capillary wedge pressure is diagnostic of PAH. If the
wedge pressure is elevated and left ventricular end-diastolic pressure (LVEDP) is
normal, obstruction at the level of the pulmonary veins, left atrium, or mitral
valve should be suspected. If LVEDP is also elevated, the diagnosis of restrictive
cardiomyopathy should be entertained. The risks associated with cardiac
catheterization are increased in severely ill patients with primary PH.
58.(A) Pulmonary vascular disease occurs more rapidly in patients with trisomy
21 who have left-to-right shunts.
59.(C) Emphasizing the nature of CHD will reduce anxiety of the parents and
also reduces the reflected anxiety on the child himself. Calling for whole family
counseling session is not indicated and may cause horror. Most patients who
have mild congenital heart disease (CHD) do not require treatment. The parents
and child should be made aware that a normal life is expected, and that no
restriction of the child's activities is necessary. Overprotective parents may use
the presence of a mild congenital heart lesion or even a functional heart
murmur as a means to exert excessive control over their child's activities.
Although fears may not be expressed overtly, the child may become anxious
regarding early death or debilitation, especially when an adult member of the
family acquires unrelated symptomatic heart disease. The family may have an
unexpressed fear of sudden death, and the rarity of this manifestation should
be emphasized in discussions directed at improving their understanding of the
child's congenital heart defect. The difference between CHD and degenerative
coronary disease in adults should be emphasized. General health maintenance,
including a well-balanced “heart-healthy” diet, aerobic exercise, and avoidance
of smoking, should be encouraged.
60.(D) Routine immunizations should be given, with the inclusion of influenza
vaccine during the appropriate season. Prophylaxis against the respiratory
syncytial virus (RSV) is recommended during RSV season in young infants with
unrepaired CHD and significant hemodynamic abnormalities. Careful
consideration of the timing of administration of live-virus vaccination is required
in patients who are potential candidates for heart or heart-lung transplantation,
and these patients cannot receive live-virus vaccines after they have received
their transplant.
61.(E) In cyanotic patients high altitudes and sudden changes in the thermal
environment should also be avoided, as both can result in either respiratory
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infection which could be severe or precipitation of TET spells due to high
altitude. In general cyanotic patients should also avoid situations where
dehydration may occur, which leads to increased viscosity and increases the risk
of stroke. Diuretics may need to be decreased or temporarily discontinued
during episodes of acute gastroenteritis. Treatment of iron deficiency anemia is
important in cyanotic patients, who may have a low mean corpuscular
hemoglobin concentration despite polycythemia.
62.(D) The pain follow strenuous exercise in a healthy adolescent is usually
muscular in origin. A silent PDA is a tiny defect that cannot be heard by
auscultation and is only detected by other means such as echocardiography. Life
expectancy is always normal in this population and the risk for endocarditis is
extremely low.
63.(E) Bicuspid aortic valve is the most common congenital heart disease that
manifest during adult life. By the age of 45 yr, approximately 50% of bicuspid
aortic valves will have some degree of stenosis. Usually have normal life
expectancy.
64.(E) Only patients with cardiac conditions associated with the highest risk for
adverse outcomes should continue antibiotic prophylaxis before surgery:
previous endocarditis; unrepaired cyanotic CHD, including palliative shunts and
conduits; completely repaired congenital heart defects with prosthetic material
or device, surgically placed or by catheter intervention, during the 1st 6 mo
after the procedure; and repaired CHD with residual defects at or adjacent to
the site of a prosthetic patch or prosthetic device (which inhibits
endothelialization). Except for the conditions just listed, antibiotic prophylaxis is
no longer recommended for other forms of CHD.
65.(D) Dilated cardiomyopathy, the most common form of cardiomyopathy in
children, is the cause of significant morbidity and mortality as well as the most
common indication for cardiac transplantation.
66.(A) Although the most common etiology of DCM remains idiopathic, its likely
that undiagnosed familial/genetic conditions and myocarditis predominate.
Unlike adult patients with DCM, ischemic etiologies are rare in children. The
annual incidence of DCM in children younger than 18 yr is 0.57 cases per
100,000 per year. Incidence is higher in males, blacks, and infants <1 yr old.
67.(B) In dilated cardiomyopathies, the presence of hypoglycemia, acidosis,
hypotonia, or signs of liver dysfunction suggests an inborn error of metabolism.
Neurologic or skeletal muscle deficits are associated with mitochondrial
disorders or muscular dystrophies.

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68.(D) In patients presenting with extreme degrees of heart failure or
circulatory collapse, intensive care measures are often required, including
intravenous inotropes and diuretics, mechanic ventilatory support, and on
occasion, mechanical circulatory support.
69.(B) Restriction from competitive sports and strenuous physical activity is
highly recommended, and additional recreational exercise activities should be
tailored to each individual based on their overall clinical status. β-Adrenergic
blocking agents (propranolol, atenolol, metoprolol) or calcium channel blockers
(verapamil) may be useful in diminishing LVOT obstruction, modifying LV
hypertrophy, and improving ventricular filling. They also confer an
antiarrhythmic benefit and may reduce symptoms. Digoxin is contraindicated.
70.(E) Presence of family history of sudden death and absence of ejection click
makes diagnosis of severe aortic stenosis is unlikely. Many patients with
hypertrophic cardiomyopathies are asymptomatic, and 50% of cases present
with a heart murmur or during screening when another family member has
been diagnosed with HCM. Symptoms of HCM may include palpitations, chest
pain, easy fatigability, dyspnea, dizziness, and syncope. Sudden death is a well-
recognized but uncommon manifestation that occurs during physical exertion.
Characteristic physical examination findings include an overactive precordial
impulse with a lift or heave, a systolic ejection murmur in the aortic region not
associated with an ejection click, and an apical blowing murmur of mitral
insufficiency. In critical PS cyanosis is predominate.
71.(E) Dramatic atrial dilation can result from the abnormal ventricular
myocardial compliance and high ventricular diastolic pressure. Abnormal
ventricular filling, sometimes referred to as diastolic heart failure, is manifest in
the systemic venous circulation with edema, hepatomegaly, or ascites.
72.(A) The vast majority of tumors originating from the heart are benign.
Rhabdomyomas are the most common pediatric cardiac tumors and are
associated with tuberous sclerosis in 70–95% of cases.
73.(B) All types of arrhythmia can presents in viral myocarditis, the most
dangerous and can lead to death is ventricular tachycardia.
74.(C) The ECG must be closely monitored, and rhythm strips obtained before
each of the 3 digitalizing doses. Digoxin should be discontinued if a new rhythm
disturbance is noted. Prolongation of the P-R interval is not necessarily an
indication to withhold digitalis, but a delay in administering the next dose or a
reduction in the dosage should be considered, depending on the patient's
clinical status. Minor ST segment or T-wave changes are frequently noted with
digitalis administration and should not affect the digitalization regimen.
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75.(A) Baseline serum electrolyte levels should be measured before and after
digitalization. Hypokalemia and hypercalcemia exacerbate digitalis toxicity.
Because hypokalemia is relatively common in patients receiving diuretics,
potassium levels should be monitored closely in those receiving a potassium-
wasting diuretic in combination with digitalis. In patients with active
myocarditis, some cardiologists recommend avoiding digitalis altogether and if
used, maintenance digitalis should be started at half the normal dose without
digitalization because of the increased risk of arrhythmia in these patients.
76.(C) Milrinone is useful in treating patients with low cardiac output who are
refractory to standard therapy. It has been shown to be highly effective in
managing the low-output state present in children after open heart surgery.
Milrinone has both positive inotropic effects on the heart and peripheral
vasodilator effects and has generally been used as an adjunct to dopamine or
dobutamine therapy in the intensive care unit.
77.(D)
78.(E) Patients with WPW syndrome have a small but real risk of sudden death.
Risk stratification, including 24 hr Holter monitoring and exercise study, may
help differentiate patients at higher risk for sudden death from WPW. Syncope
is an ominous symptom in WPW, and any patient with syncope and WPW
syndrome should have an electrophysiology study (EPS) and likely catheter
ablation. Although most often presenting in patients with a normal heart, WPW
syndrome may also be associated with Ebstein anomaly of the tricuspid valve,
hypertrophic cardiomyopathy or L-TGA.
79.(B) Do not loss a lot of time in vagal stimulation, adenosine is the drug of
choice. Verapamil can cause cardiac arrest and severe hypotension in children
less than one year and contraindicated in patients with WPW. Synchronized
cardioversion reserved for patients who shows signs of severe heart failure.
80.(E) Once the patient has been converted to sinus rhythm, a longer-acting
agent is selected for maintenance therapy. In patients without an antegrade
accessory pathway (non-WPW), the β-adrenergic blockers are the mainstay of
drug therapy. Digoxin is also popular and may be effective in infants, but less so
in older children. In children with WPW, digoxin or calcium channel blockers
may increase the rate of antegrade conduction of impulses through the bypass
tract, with the possibility of ventricular fibrillation, and are therefore
contraindicated.
81.(A) Hypothyroidism or hyperthyroidism, elevated triglycerides, hepatic
toxicity, and pulmonary fibrosis all are possible side effects of amiodarone.

460
82.(D) For patients with ventricular tachycardia VT who are hemodynamically
stable, intravenous amiodarone, lidocaine, or procainamide is the initial drug of
choice. If treatment is to be successful, it is critical to search for and correct any
underlying abnormalities, such as electrolyte imbalance, hypoxia, or drug
toxicity. Hemodynamically unstable patients with VT should be immediately
treated with DC cardioversion. Option A and D is reserved for patients suffering
from VF.
83.(B) Antibiotics; erythromycin, clarithromycin, azithromycin, telithromycin,
trimethoprim/sulfamethoxazole, and fluoroquinolones.
84.(E)
85.(A) LQTS type 1 (LQT1) events are usually induced by stress or exertion,
whereas events in LQT3 often occur at rest, especially during sleep. LQT2 events
have an intermediate pattern, often occurring in the postpartum period or with
auditory triggers. LQT3 has the highest probability for sudden death, followed
by LQT2 and then LQT1.
86.(B) No relationship exists between the infecting organism and the type of
congenital defect, duration of illness, or age of the child. Staphylococcal
endocarditis is more common in patients with no underlying heart disease.
Viridans group streptococcal infection is more common after dental procedures;
group D enterococci are seen more often after lower bowel or genitourinary
manipulation.
87.(A) A single episode of acute rheumatic carditis often results in complete
healing of the valvular lesions, while repeated episodes, especially involving
previously affected valves, result in chronic rheumatic heart disease (RHD ),
which is the rationale for secondary prophylaxis.

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Chapter 20
Diseases of the Blood
Questions
HASANEIN H. GHALI
1. Erythrocytes in the fetus are larger than in adults, and at 22-23 wk gestation
the mean corpuscular volume can be as high as
A. 105 femtoliters (fL)
B. 115 femtoliters (fL)
C. 125 femtoliters (fL)
D. 135 femtoliters (fL)
E. 145 femtoliters (fL)

2. How much is the normal ratio of HbA to HbA2 throughout life?

A. 15 : 1
B. 20 : 1
C. 25 : 1
D. 30 : 1
E. 35 : 1

3. Which of the following conditions is associated with increased Levels of

HbA2>3.4%?
A. Megaloblastic anemia
B. Iron-deficiency
C. α-thalassemia
D. Hemolytic anemias
E. Diamond Blackfan anemia

4. Microcytes are seen in blood films of which of the following conditions?

A. Aplastic anemia
B. Liver disease
C. Anemia of chronic disease
D. Down syndrome
E. Hypothyroidism

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5. Basophil stippling is seen in blood films of which of the following conditions?
A. Hereditary spherocytosis
B. Aplastic anemia
C. Liver disease
D. Thalassemia
E. Xerocytosis

6. A 4-month-old infant presents with progressive pallor,microcephaly, snub

nose, high-arched palate, hypertelorism, low-set ears, and triphalangeal thumb.
Peripheral blood smear shows macrocytic RBCs with low reticulocyte count.
Of the following, the MOST likely diagnosis is
A. Diamond-Blackfan anemia
B. Fanconi anemia
C. Shwachman-Diamond syndrome
D. Pearson marrow-pancreas syndrome
E. Aase syndrome

7. Which of the following is the mainstay therapy of Diamond-Blackfan anemia?

A. Chronic red cell transfusions
B. Corticosteroids
C. Hematopoietic stem cell transplantation
D. Hydroxyurea
E. spenectomy

8. Which of the following differentiate transient erythroblastopenia of

childhood from iron-deficiency anemia?
A. MCV
B. Reticulocytopenia
C. Neutrophil count
D. Platelet number
E. Age of onset

9. Which of the following is the BEST diagnostic test used to distinguish anemia
of chronic disease (ACD) from iron-deficiency anemia (IDA)?
A. Serum iron
B. Serum transferrin
C. Serum ferritin
D. Soluble transferring receptor
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 E. MCV

10. A 7-year-old child presents with pallor, jaundice, frontal bossing

hepatosplenomegaly, , supernumerary toes, and gall stones revealed by US.
Laboratory findings revealed hemoglobin 8 g/dL, MCV 110 fL, normoblasts,
anisopoikilocytosis and basophilic stippling of RBCs. The bone marrow aspirate
shows erythroid hyperplasia, megaloblastosis, with incompletely divided cells
with thin chromatin bridges between nuclei of pairs of erythrocytes. Electron
microscopy revealed erythroblasts with a characteristic “Swiss cheese”
heterochromatin pattern.
Of the following, the MOST likely diagnosis is
A. congenital dyserythropoietic anemia
B. Diamond-Blackfan anemia
C. Fanconi anemia
D. hereditary spherocytosis
E. hereditary elliptocytosis

11. A 10-week-old baby is brought by his mother because of pallor, he has been
delivered normally at 38 weeks with weight of 3.6 Kg, now he looks well but his
Hb is 10 mg/dl.
Of the following, the MOST appropriate management is
A. iron therapy
B. folic acid therapy
C. vitamin E therapy
D. reassurance
E. erythropoietin therapy

12. Which of the following milk is folate deficient?

A. Human breast milk
B. Infant formula
C. Pasteurized cow’s milk
D. Goat’s milk
E. Camel milk

13. Which of the following anticonvulsant drugs can impair folic acid
absorption?
A. Phenobarbital
B. Oxcarbazepine
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 C. Ethosuximide
D. Lamotrigine
E. Levetiracetam

14. A 7-month-old boy presents with progressive pallor, irritability, chronic

diarrhea, and poor weight gain. He exclusively breast fed till the age of two
months, then shifted to boiled goat milk because of mother illness. Hb 7 gm/dl,
MCV 105 fl, reticulocyte count 1%, WBCs and platelets normal.
Of the following, the MOST important investigation is
A. serum B12
B. serum folic acid
C. serum ferritin
D. tissue trasglutaminase IgA Ab
E. serum zinc

15. A 7-month-old boy presents with progressive pallor, irritability, chronic

diarrhea, and poor weight gain. He was exclusively breast fed till the age of two
months, then shifted to boiled goat milk because of mother illness. Hb 7 gm/dl,
MCV 105 fl, reticulocyte count 1%, WBCs and platelets were normal.
Of the following, the MOST appropriate treatment for this boy is
A. folic acid therapy 1.0 mg/day for 1wk
B. folic acid therapy 5.0 mg/day for 2 wk
C. folic acid therapy 1.0 mg/day for 4 wk
D. folic acid therapy 1.0 mg/day for 8 wk
E. multivitamin dropper (containing 0.2 mg of folate)

16. A 1-year-old boy presents with progressive pallor, weakness, lethargy,

feeding difficulties, failure to thrive, and irritability. On examination he has a
tinge of jaundice, glossitis, hypotonia, and developmental delay. His peripheral
blood shows macro-ovalocytosis of the RBCs with neutropenia and
thrombocytopenia. His mother has peptic ulcer disease and on proton pump
inhibitors.
Of the following, the MOST likely cause is
A. B12 deficiency
B. folate deficiency
C. hereditary ovalocytosis
D. iron deficiency
E. Imerslund-Grasbeck syndrome
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17. A 4-year-old child presents with pallor, hypotonia, developmental delay, and
movement disorders. Laboratory findings revealed megaloblastic anemia and
proteinuria. The parents are 1st degree relatives and the child has two normal
siblings.
Of the following, the MOST likely diagnosis is
A. B12 deficiency
B. folate deficiency
C. Imerslund-Grasbeck syndrome
D. Rogers syndrome
E. Oroticaciduria

18. A 3-year-old child presents with megaloblastic anemia, sensorineural

deafness, and diabetes mellitus. He has visual problems, congenital heart
disease, and his height is below 3rd percentile. The bone marrow revealed
megaloblastic changes with ringed sideroblasts.
Of the following, the MOST likely diagnosis is
A. B12 deficiency
B. Transcobalamin deficiency
C. Imerslund-Grasbeck syndrome
D. Rogers syndrome
E. Oroticaciduria

19. How much is the necessary daily dietary intake of iron to maintain positive
iron balance in childhood?
A. 10 mg
B. 20 mg
C. 30 mg
D. 40 mg
E. 50 mg

20. Irritability, anorexia, lethargy, and systolic flow murmurs are often heard,
when the hemoglobin level falls below
A. 8 g/dL
B. 7 g/dL
C. 6 g/dL
D. 5 g/dL
E. 4 g/dL

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21. Which of the following provides very useful and early indicators of iron
deficiency?
A. Serum ferritin
B. Serum iron
C. Serum transferrin
D. Free erythrocyte protoporphyrins
E. Reticulocyte hemoglobin concentration

22. Iron deficiency is best prevented to avoid both its systemic manifestations
and anemia. Breastfeeding should be encouraged, with the addition of
supplemental iron at the age of
A. 2 months
B. 4 months
C. 6 months
D. 8 months
E. 10 months

23. Iron therapy in developing countries may increase the virulence of certain
A. viruses
B. gram negative bacteria
C. gram positive bacteria
D. fungi
E. atypical bacteria

24. Blood film of a 2-year-old child shows poikilocytosis, microcytosis,

fragmented erythrocytes, and elliptocytes.
Of the following, the MOST likely diagnosis is
A. sickle cell disease
B. liver disease
C. hereditary spherocytosis
D. hereditary elliptocytosis
E. hereditary pyropoikilocytosis

25. Which of the following RBC indices is MOST helpful in the diagnosis of
hereditary spherocytosis?
A. RBC count
B. MCV
C. MCH
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 D. MCHC
E. RDW

26. Which of the following closely mimics hereditary spherocytosis in the

neonatal period?
A. ABO incompatibility
B. Autoimmune hemolytic anemia
C. Clostridial sepsis
D. Wilson disease
E. Congenital dyserythropoietic anemia type II

27. When splenectomy is indicated for hereditary spherocytosis, it should be

performed after age of
A. 3years
B. 4 years
C. 5 years
D. 6 years
E. 7 years

28. What is the MOST important lab finding that differentiate hereditary
pyropoikilocytosis from hereditary elliptocytosis?
A. Extreme microcytosis
B. Extreme anisocytosis
C. Extreme macrocytosis
D. Extreme elliptocytosis
E. Extreme ovalocytosis

29. A 2-year-old child presents with mild compensated macrocytic hemolytic

anemia with splenomegaly 2 cm below costal margin with intermittent jaundice.
CBC shows elevated MCHC, MCV, decreased erythrocyte osmotic fragility, and
decreased K+ concentration, blood film reveals small numbers of stomatocytes,
target cells, and contracted RBCs.
Of the following, the MOST likely diagnosis is
A. Hereditary hydrocytosis
B. Hereditary xerocytosis
C. Hereditary cryohydrocytosis
D. Tangier disease
E. Sitosterolemia
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30. A 10-year-old girl presents with large orange tonsils, hepatosplenomegaly,
lymphadenopathy, cloudy corneas, and peripheral neuropathy. Her peripheral
blood smear reveals moderate stomatocytic hemolytic anemia and
thrombocytopenia.
Of the following, the MOST likely diagnosis is
A. Phytosterolemia
B. Rh Deficiency Syndrome
C. Cryohydrocytosis
D. Tangier disease
E. Sitosterolemia

31. Pancytopenia with bone marrow infiltration is seen in

A. B12 deficiency
B. CMV infection
C. systematic lupus erythematosus
D. osteopetrosis
E. aplastic anemia

32. What is the MOST common inherited pancytopenia syndrome?

A. Dyskeratosis congenita
B. Fanconi anemia
C. Shwachman-Diamond syndrome
D. Diamond-Blackfan anemia
E. Congenital amegakaryocytic thrombocytopenia

33. Which of the following pancytopenia is transmitted through autosomal

dominant manner?
A. Congenital amegakaryocytic thrombocytopenia
B. Amegakaryocytic thrombocytopenia with radioulnar synostosis
C. Nijmegen breakage syndrome
D. Seckel syndrome
E. Dubowiz syndrome

34. Which of the following pancytopenia is transmitted through mitochondrial

inheritance?
A. Diamond-Blackfan anemia
B. Amegakaryocytic thrombocytopenia with radioulnar synostosis
C. Pearson marrow-pancreas syndrome
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 D. Schimke syndrome
E. Cartilage-hair hypoplasia

35. What is the MOST common congenital anomaly in Fanconi anemia?

A. Cardiac
B. Gastrointestinal
C. Eye
D. Renal
E. Skeletal

36. What is the latest hematological abnormality evolved in Fanconi anemia?

A. Anemia
B. Thrombocytopenia
C. Neutropenia
D. Macrocytosis
E. Increased hemoglobin F

37. What is the MOST common available test for diagnosis of Fanconi anemia?
A. Complete blood count
B. Bone marrow aspiration and biopsy
C. Chromosomal breakage test
D. Mutation screening
E. Next-generation sequencing

38. Which of the following options provides curative outcome for hematological
abnormalities in patients with Fanconi anemia?
A. Androgen therapy
B. Hematopoietic stem cell transplantation
C. Granulocyte colony stimulating factor
D. Erythropoietin
E. Blood / blood products transfusions

39. Which of the following malignancies is considered as a complication of

Fanconi anemia?
A. Acute lymphoblastic leukemia
B. Acute myeloid leukemia
C. Osteosarcoma
D. Rhabdomyosarcoma
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 E. Retinoblastoma

40. Initial response of androgen therapy in Fanconi anemia is heralded by

A. rise in hemoglobin
B. increase in neutrophil count
C. increase in lymphocyte count
D. reticulocytosis
E. increase in platelet counts

41. What is the MOST commonly used androgenic drug in Fanconi anemia?
A. Testosterone
B. Oxymetholone
C. Methenolone acetate
D. Nandrolone decanoate
E. Boldenone undecenoate

42. Which of the following is TRUE regarding Pros and cons of androgen therapy
in Fanconi?
A. They can produce a response in about 30% of patients
B. Treatment is curative in some patients
C. Dose modification is always required according to hematological
response
D. Once response is achieved, it usually continues for many years
E. Liver tumors are reported as possible consequences of androgen use

43. Granulocyte colony-stimulating factor (G-CSF) in Fanconi anemia can usually

induce an increase in the neutrophil count; however, a notable limitation to
starting therapy is
A. severe bone pain
B. local bleeding at site of subcutaneous injection
C. risk of expansion of bone marrow cells with clonal cytogenetic
abnormality
D. the rise of counts involves only white blood cells
E. possible loss of response after few doses due to disease progression

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44. A 4-year-old male develops recurrent epistaxis and easy bruising.. The
patient was the first child of unrelated healthy parents born after 41 weeks of
pregnancy. Physical examination of the patient reveal short stature, clinodactyly
with brachy mesophalangia on bilateral 5th fingers, multiple café-au-lait spots
on both thighs and right buttock. He has no other abnormalities. His initial
complete blood cell count results are as follows: white blood cell, 5.0×109/L;
hemoglobin 9.5 g/dL; platelets 80×109/L.
Of the following, the MOST likely diagnosis is
A. megaloblastic anemia
B. Pearson syndrome
C. congenital Amegakaryocytic Thrombocytopenia
D. Fanconi anemia
E. Diamond-Blackfan anemia

45. What is the MOST common hematological abnormality in Shwachman-

Diamond syndrome?
A. Anemia
B. Neutropenia
C. Lymphopenia
D. Thrombocytopenia
E. Pancytopenia

46. What is the MOST common non-hematological abnormality in Shwachman-

Diamond syndrome?
A. Pancreatic insufficiency
B. Elevated transaminase
C. Skeletal abnormality
D. Short stature
E. Rib cage abnormality

47. A 24-month-old girl was admitted to the hospital because of steatorrhea

and short stature. At the age of three months, she presented with convulsion
and neutropenia. Since then she has had frequent purulent otitis media and
pneumonias. She has angular stomatitis, and many dental caries. The results of
the laboratory studies were as follows: hemoglobin 11.3 g/dL, leukocytes
3,000/µL (neutrophils 17.3%, lymphocytes 59.5%, monocytes 22.9%, basophils
0.3%, and eosinophils 0%), platelets 152,000/µL.
Of the following, the MOST likely diagnosis is
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 A. cystic fibrosis
B. primary lactase deficiency
C. Shwachman-diamond syndrome
D. alpha-one antitrypsin deficiency
E. Pearson syndrome

48. Which of the following feature are more specific of Fanconi anemia than
Shwachman-diamond syndrome?
A. Metaphyseal dysplasia
B. Delayed appearance of secondary ossification centers
C. Triphalangeal thumb
D. Short or flared ribs
E. Thoracic dystrophy

49. What is the MOST common reported chromosomal abnormality in

Shwachman-diamond syndrome?
A. Isochromosome 7q
B. Monosomy 7
C. Isochromosome 7q combined with monosomy 7
D. Deletions of 7q
E. Deletions of 20q

50. What is the old diagnostic triad for dyskeratosis congenita?

A. Nail dysplasia, reticular pigmentation of the chest, and oral leukoplakia
B. Bone marrow failure, nail dysplasia, and oral leukoplakia
C. Reticular pigmentation of the chest, bone marrow failure, and nail
dysplasia
D. Avascular necrosis of hip, nail dysplasia, and bone marrow failure
E. Optic atrophy, nail dysplasia, and oral leukoplakia

51. What is the MOST common clinical manifestation of dyskeratosis congenita?

A. Leukoplakia
B. Epiphora
C. Blepharitis
D. Skin pigmentation
E. Phimosis

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52. Revesz syndrome has many of the features of dyskeratosis congenital DC
and presents in early childhood in addition to
A. blepharitis
B. conjunctivitis
C. exudative retinopathy
D. cataract
E. optic atrophy

53. Which of the following inherited bone marrow failure syndromes has the
lowest survival and highest mortality?
A. Fanconi anemia
B. Shwachman-Diamond syndrome
C. Dyskeratosis congenita
D. Congenital amegakaryocytic thrombocytopenia
E. Diamond-Blackfan Anemia

54. Congenital amegakaryocytic thrombocytopenia patients usually have normal

phenotype. Yet, about 10% of cases involve physical anomalies.
Of the following, the MOST common anomalies are
A. eye anomalies
B. kidney malformations
C. skeletal malformations
D. cardiac anomalies
E. dysmorphic features

55. An 8-year-old boy presents with fever, headache, chills, and painful throat
for five days. Leukoplakia is noted on his tongue and some of his finger and toe
nails are markedly dystrophic. His skin seem spotted with pigmentation on the
anterior chest and neck. Vitally, his blood pressure 106/74 mm Hg, pulse rate
106/min, respiratory rate 28b/min, and body temperature 38.9 C. His WBC
count was 0.300/mm3 with 37% neutrophils, platelets 21,000 and Hb 9.2 g/dl.
Of the following, the MOST likely diagnosis is
A. congenital amegakaryocytic thrombocytopenia
B. dyskeratosis congenita
C. reticular dysgenesis
D. Fanconi anemia
E. cartilage-hair syndrome

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