Pediatric Cases

Question 1

How does the concentration of 2,3-DPG change with anemia?

Answer 1

It increases within the RBC

Question 2

The oxygen curve shifts right or left in anemia?

Answer 2

To the right - oxygen is easily detached from hemoglobin to deposit into tissue

Question 3

What is the first test you want to order if you suspect anemia?

Answer 3

Hemoglobin and hematocrit

Question 4

What is the next test after the H/H to order/look at?

Answer 4

MCV, MCH, MCHC

Question 5

After you look at MCV, what do you look at next?

Answer 5

Reticulocyte index (<2 is normal)

Less than normal would indicate bone marrow production problem
Greater than normal would indicate increased hemolysis

Question 6

When is the physiologic nadir of H/H in infants?

Answer 6

2 months old

Question 7

What is an important congenital infection that can cause hemolytic anemia?

Answer 7

Parvovirus B19

Question 8

What is diamond blackfan syndrome?

Answer 8

Pure red cell aphasia - macrocytic anemia with low reticulocyte count

Question 9

What it’s the most common inherited form of aplastic anemia?

Answer 9

Fanconi anemia

Question 10

What can fanconi anemia progress to ?

Answer 10

Pancytopenia around age 10

Question 11

What will the peripheral smear show for iron deficiency anemia?

Answer 11

Hypochromic microcytes

Target cells

Question 12

What is the mentzer index used for?

Answer 12

To differentiate iron deficiency anemia from beta thalassemia

Question 13

What does a mentzer index of >13 indicate?

Answer 13

Iron deficiency anemia

<13 - beta thalassemia is more likely

Question 14

What does basophilic stippling on peripheral smear indicate?

Answer 14

Lead poisoning

Microcytic hypochromic

Question 15

What is the inheritance of: 
G6PD 
HS 
Thalassemia 
SCD

Answer 15

X linked
AD
AD
AR

Question 16

What does HUS present after?

Answer 16

Acute gastroenteritis

Question 17

What is the classic triad for HUS?

Answer 17

MAHA
Thrombocytopenia
Acute renal failure

Question 18

what is the most common cause of isolated thrombocytopenia in otherwise well children?

Answer 18

Acute immune thrombocytopenia (ITP)

Question 19

What is the platelet count in ITP?

Answer 19

<20,000

Question 20

Are the PT/PTT in ITP increased or decreased?

Answer 20

Normal !

Question 21

What is the treatment of acute ITP?

Answer 21

Prednisone

Question 22

What is kasabach-merritt syndrome?

Answer 22

Thrombocytopenia and hypofibrinogenemia secondary to giant hemangioma and associated intravascular coagulation

Question 23

What are B symptoms?

Answer 23

Unexplained fever
Weight loss >10%
Drenching night sweats

Question 24

What is the triad for wiscott Aldrich syndrome? (X linked recessive)

Answer 24

Recurrent sino-pulmonary and ear infections
Severe atopic dermatitis
Bleeding

Question 25

What trisomy is found in AML and ALL ?

Answer 25

Trisomy 21

Question 26

What is the absolute neutrophil count equation (ANC)?

Answer 26

((%neutrophils+%bands)x (WBC))/100

Question 27

What happens if the ANC is <500?

Answer 27

The risk of severe infections is high

Question 28

What is Kostmann syndrome?

Answer 28

Severe congenital neutropenia

Question 29

What are the clinical manifestations of Kostmann syndrome?

Answer 29

Life threatening pyogenes infections in infancy

Question 30

What causes Kostmann syndrome?

Answer 30

Impaired myeloid differentiation caused by maturational arrest of neutrophil precursors

Question 31

What is the inheritance of Kostmann syndrome?

Answer 31

Autosomal recessive

Question 32

What are the clinical manifestations of cyclic neutropenia?

Answer 32

Cyclic fever, oral ulcers, gingivitis, periodontal disease, recurrent bacterial infections

Question 33

What disease is described by a stem cell regulatory defect resulting in defective maturation

Answer 33

Cyclic neutropenia

Question 34

What is the inheritance pattern of cyclic neutropenia?

Answer 34

Sporadic or AD

Question 35

What is the triad in Shwachman diamond syndrome?

Answer 35

Neutropenia Skeletal abnormalities Exocrine pancreas insufficiency

Question 36

Which disease is caused by a defect in neutrophil mobility, migration and chemotaxis in addition to neutropenia?

Answer 36

Shwachman diamond syndrome

Question 37

What is the inheritance pattern shwachman diamond syndrome?

Answer 37

AR

Question 38

Scwachman diamond syndrome increases the risk of which malignancy?

Answer 38

Myelodysplastic syndrome or leukemia

Question 39

What is fanconi anemia?

Answer 39

Autosomal recessive disorder in which there is a bone marrow failure that results in pancytopenia

Question 40

What is leukocyte adhesion deficiency?

Answer 40

Delayed separation of umbilical cord >3 weeks, recurrent and severe bacterial and fungal injections without pus accumulation

Question 41

What’s the triad of hyper IgE syndrome?

Answer 41

Eczema Recurrent bacterial infections of the skin Recurrent pulmonary infections

Question 42

What is the inheritance of hyper IgE syndrome?

Answer 42

Autosomal dominant

Question 43

Which disease results from defects in granule morphogenesis, chemotaxis and degranulation?

Answer 43

Chediak higashi syndrome

Question 44

A defect in oxidative metabolism, absent generation of superoxide describes what disorder?

Answer 44

Chronic granulomatous disease

Question 45

What is a virus that commonly causes neutropenia in chillens?

Answer 45

Parvovirus B19