Lecture 2: Non-Neoplastic WBC Disorders in Pediatrics Flashcards
How to calculated absolute neutrophil count (ANC)?
ANC = [(% neutrophils + %bands) x (WBC)] / 100
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If the absolute neutrophil count (ANC) is
ANC <500/uL
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What is the inheritance pattern, clinical manifestations and the defect in Kostmann Syndrome?
- Autosomal recessive
- ANC <200 since birth; manifests as life-threatening pyogenic infections, often in infancy
- Due to impaire myeloid differentiation caused by maturational arrest of neutrophil precursors
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Severe congenital neutropenia (Kostmann syndrome) increases the risk for what?
Leukemia (AML)
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What are the clinical manifestations and defect associated with Cyclic neutropenia?
- Cyclic fever, oral ulcers, gingivitis, periodontal disease, and recurrent bacterial infections
- ANC <200 for 3-7 days every 3 weeks
- Due to stem cell regulatory defect resulting in defective maturation
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What is the inheritance pattern and risk for malignancy associated with Cyclic neutropenia?
- Can be sporadic or autosomal dominant
- NO increased risk malignancy
What is the triad associated with Shwachman-Diamond syndrome?
- Neutropenia
- Exocrine pancreas insufficiency = loose oily stools
- Skeletal abnormalities
![](https://s3.amazonaws.com/brainscape-prod/system/cm/316/802/785/a_image_thumb.png?1551470521)
What is the inheritance pattern and defect seen with Shwachman-Diamond syndrome?
- Autosomal recessive
- Defect in neutrophil mobility, migration,andchemotaxisin addition toneutropenia
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Shwachman-Diamond syndrome is associated with an increased risk for what?
Myelodysplastic syndrome or leukemia
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Fanconi anemia is the classic example of which triad?
- Pancytopenia
- Bone marrow failure
- Aplastic anemia
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What are the clinical manifestations of leukocyte adhesion deficiency?
- Delayed separation of umbilical cord (>3 weeks)
- Recurrent severe bacterial and fungal infections WITHOUT pus
- Poor wound healing
- Periodontal disease
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What is the triad of hyper-IgE aka Job syndrome?
- Severe eczema
- Recurrent bacterial infections (usually staph) of skin
- Recurrent pulmonary infections (bacterial, fungal)
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What is the defect in Hyper-IgE aka Job syndrome; increased risk of what malignancy?
- Defect in chemotaxis of neutrophils
- ↑ risk of Hodgkin lymphoma
What are the 4 main clinical manifestations of Chediak-Higashi syndrome; what is the inheritance pattern?
- Autosomal recessive; defect in granule morphogenesis, chemotaxis, and degranulation
- Partial oculocutaneous ALBINISM
- Peripheral and cranial neuropathies
- Neutropenia
- Recurrent pyogenic infections
![](https://s3.amazonaws.com/brainscape-prod/system/cm/316/802/822/a_image_thumb.png?1551471878)
What are the clinical manifestations of Chronic Granulomatous disease; what is the inheritance pattern?
- Primarily X-linked recessive
- Recurrent purulent infections w/ fungal or bacterial catalase-positive organisms
- Usually begins in infancy, chronic inflammatory granulomas
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