Peds WBC

Question 1

Severe Congenital Neutropenia

Answer 1

Life-threatening pyogenic infections, often in infancy

Impaired myeloid differentiation caused by maturational arrest of neutrophil precursors

Autosomal recessive

Increased risk of AML

Question 2

Severe Congenital Neutropenia inheritance pattern

Answer 2

AR

Question 3

Cyclic Neutropenia

Answer 3

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

Stem cell regulatory defect resulting in defective maturation

Sporadic or autosomal dominant

No increased risk for malignancy

Question 4

Cyclic Neutropenia inheritance

Answer 4

Sporadic or AD

Question 5

Schwachman-Diamond Syndrome

Answer 5

Triad of neutropenia, exocrine pancreas insufficiency, and skeletal abnormalities

May have defects in neutrophil mobility, migration, and chemotaxis in addition to neutropenia

Autosomal recessive

Increased risk for myelodisplastic syndrome or leukemia

Question 6

Schawchman-Diamond Syndrome inheritance

Answer 6

AR

Question 7

Fanconi anemia

Answer 7

Bone marrow failure syndrome, all cell lines affected

GU and skeletal abnormalities

Increased chromosome fragility

AR, presents first 10 years of life

Classic example of pancytopenia/bone marrow failure/aplastic anemia

Risk of AML, Brain tumors, wilms tumor

Question 8

Leukocyte adhesion deficiency

Answer 8

Delayed separation of umbilical cord, recurrent and severe bacterial and fungal infections without pus accumulation

Autosomal recessive

Question 9

LAD inheritance

Answer 9

AR

Question 10

Hyper Ig-E Syndrome inheritance pattern

Answer 10

Can be sporadic, AD, less commonly AR

Question 11

Hyper Ig-E Syndrome

Answer 11

Severe eczema

Recurrent bacterial infections (usually staph) of skin

Recurrent pulmonary infections lungs (bacterial, fungal)

Question 12

Chediak-Higashi inheritance

Answer 12

AR

Question 13

Chediak-Higashi

Answer 13

Partial oculocutaneous albinism, peripheral and cranial neuropathies, neutropenia, recurrent pyogenic infections

Defects in granule morphogenesis, chemotaxis and degranulation, ineffective granulopoiesis

AR

Question 14

Chronic Granulomatous disease

Answer 14

Recurrent purulent infections with fungal or bacterial calase-positive organisms, usually starting in infancy, chronic inflammatory granulomas

Defect in oxidative metabolism, absent generation of superoxide

Question 15

CGD inheritance

Answer 15

Primarily x-linked, rarely AR