Pediatric Disorders - cont.

Question 1

Acute and Chronic ITP - age of onset?

Answer 1

Acute - 2-6 years old

Chronic - 20-40 year old women usually

Question 2

Acute and Chronic ITP - prior infection?

Answer 2

Acute - prior viral infection 1-3 weeks prior

Chronic - NONE

Question 3

Acute and Chronic ITP - onset of bleeding?

Answer 3

Acute - rapid

Chronic - insidious

Question 4

Acute and Chronic ITP - platelet levels?

Answer 4

Acute - < 20K

Chronic - 30K-80K

Question 5

Acute and Chronic ITP - duration?

Answer 5

Acute - 2-6 weeks

Chronic - months/years

Question 6

Acute and Chronic ITP - eosinophilia and lymphocytosis present?

Answer 6

Acute - Yes

Chronic - No

Question 7

Acute and Chronic ITP - remission?

Answer 7

Acute - common spontaneous remission

Chronic - rare

Question 8

How is Wiscott-Aldrich syndrome inherited and what does it predispose to development of?

Answer 8

X-linked recessive

- Increased risk for NON-Hodgkin lymphoma

Question 9

Symptoms of Wiscott-Aldrich syndrome?

Answer 9

• Thrombocytopenia
• Atopic dermatitis
• Recurrent sino-pulmonary and ear infections

Question 10

Thrombotypenia, atopic dermatitis, and recurrent sino-pulmonary and ear infections suggests?

Answer 10

Wiscott-Aldrich syndrome

Question 11

Wiscott-Aldrich syndrome predisposes to development of?

Answer 11

NON-Hodgkin Lymphomas

Question 12

Kostmann Syndrome ANC level?

Answer 12

ANC < 200

Question 13

Kostmann Syndrome has an increased risk for?

Answer 13

AML due to maturation of neutrophil precursors

Question 14

Cyclic Neutropenia ANC level?

Answer 14

ANC < 200 for 3-7 days every 15-35 days

Question 15

ANC < 200 for 3-7 days every 15-35 days suggests?

Answer 15

Cyclic Neutropenia

Question 16

Symptoms of Cyclic Neutropenia?

Answer 16

Cyclic fever, recurrent bacterial infections

Oral ulcers and gingivitis

Question 17

How can Cyclic Neutropenia be inherited?

Answer 17

Autosomal Dominant or sporadic

Question 18

3 symptoms for Schwachman-Diamond Syndrome?

Answer 18

Neutropenia
Exocrine pancreas insufficiency
Skeletal abnormalities

Question 19

Schwachman-Diamond Syndrome has defects in?

Answer 19

Neutrophil mobility

Question 20

How does cyclic neutropenia occur?

Answer 20

Stem cell regulatory defect that results in defective maturation

Question 21

How is Leukocyte Adhesion Deficiency inherited?

Answer 21

Autosomal recessive

Question 22

3 signs of Leukocyte Adhesion Deficiency?

Answer 22

Delayed separation of umbilical cord stump (>3 weeks)
Poor wound healing
Recurrent bacterial/fungal infection with pus

Question 23

Delayed separation of umbilical cord stump, poor wound healing and recurrent bacterial/fungal infections with pus suggest?

Answer 23

Leukocyte Adhesion Deficiency

Question 24

How is Hyper-Immunoglobin E syndrome (job syndrome) inherited?

Answer 24

Autosomal Dominat or sporadic

Question 25

Symptoms of Hyper-immunoglobin E syndrome (job syndrome)?

Answer 25

Severe Eczema | Recurrent skin and pulmonary infections

Question 26

Levels of IgE, eosinophils and neutrophil chemotaxis with Hyper-immunoglobin E syndrome (job syndrome)?

Answer 26

IgE = HIGH Eosinophils = HIGH Neutrophil Chemotaxis = LOW

Question 27

Those with Hyper-immunoglobin E syndrome (job syndrome) are at an increased risk for?

Answer 27

Hodgkin lymphoma

Question 28

How is Chronic Granulomatous Disease inherited?

Answer 28

X-linked recessive

Question 29

Chronic Granulomatous Disease has a defect in?

Answer 29

Oxidative metabolism (no superoxide formation)

Question 30

When does Chronic Granulomatous Disease start?

Answer 30

Infancy

Question 31

Symptoms of Chronic Granulomatous Disease?

Answer 31

Recurrent purulent infections with fungal/catalase (+) bacteria - chronic inflammatory granulomas

Question 32

Recurrent purulent infections with fungal/catalase (+) bacteria is seen with?

Answer 32

Chronic granulomatous disease

Question 33

What is Fanconi Anemia?

Answer 33

Inherited form of Aplastic Anemia | - autosomal recessive

Question 34

What is an autosomal recessively inherited form of Aplastic Anemia?

Answer 34

Fanconi Anemia

Question 35

Fanconi Anemia involves ______ in bone marrow

Answer 35

Increased apoptosis

Question 36

GU and skeletal anomalies are seen with?

Answer 36

Fanconi Anemia

Question 37

Symptoms of Fanconi Anemia?

Answer 37

Pancytopenia, Macrocytic anemia GU and skeletal anomalies Chromosome fragility

Question 38

Symptoms of Fanconi Anemia?

Answer 38

Pancytopenia, Macrocytic Anemia GU and skeletal anomalies Chromosome fragility

Question 39

When will Fanconi Anemia present?

Answer 39

May be up to 10 YEARS of age before it presents

Question 40

When will Fanconi Anemia present?

Answer 40

May be up to 10 YEARS of age before it presents

Question 41

Those with Fanconi Anemia are at an increased risk for?

Answer 41

AML, brain and wilms tumors

Question 42

What is Diamond-Blackfan syndrome/anemia?

Answer 42

Congenital pure red blood cell aplasia that presents in infancy

Question 43

What is a congenital pure red blood cell aplasia?

Answer 43

Diamond - Blackfan Syndrome/Anemia

Question 44

When does Diamond-Blackfan syndrome/anemia present?

Answer 44

INFANCY

Question 45

What occurs with Diamond-Blackfan syndrome/anemia?

Answer 45

Increased apoptosis in erythroid precursors

Question 46

What occurs with Diamond-Blackfan syndrome/anemia?

Answer 46

Increased apoptosis in erythroid precursors

Question 47

What type of anemia and reticulocyte count are present with Diamond-Blackfan syndrome/anemia?

Answer 47

Macrocytic anemia | LOW reticulocytes

Question 48

What type of anemia and reticulocyte count are present with Diamond-Blackfan Syndrome/anemia?

Answer 48

Macrocytic anemia | LOW reticulocytes

Question 49

Inherited forms of macrocytic anemia?

Answer 49

Diamond-Blackfan syndrome/anemia | Fanconi Anemia