Section 12: WBC anomalies/Lipid Storage Disease

Question 1

Define Pelger-Huet Anomaly

Answer 1

benign congenital hyposegmentation of PMNs (include in the diff)

no granulocytes with >2 nuclear lobes pince-nez and stodtmeister (increased bands)

Question 2

Identify the anomaly:

Answer 2

pelger-huet anomaly

Question 3

Identify these anomalies:

Answer 3

pelger-huets

Question 4

Define Alder-Reilly inclusions/anomalies

Answer 4

Hematological manifestation of inherited recessive disorder, def in enzymes to breakdown mucopolysaccharides in WBC
May look like toxic granulation

Question 5

What are some diseases associated with Alder-Reilley inclusions?

Answer 5

Hurlers syndrome, hunters syndrome, and other gargoylisms hehe
Many pt die before 10yrs

Hunters hurl things at gargoyles cuz they stole the hunters’ mucopolysaccharides

Question 6

Identify this cell

Answer 6

Alder-Reilley

Question 7

Identify this inclusion on an Alder-Reilley cell

Answer 7

Hurler’s anomaly

Question 8

Define Chediak-Higashi Syndrome

Answer 8

• Rare auto recessive disorder characterized by GIANT lysosomes in most cells
• Decreased PLT with large granules/defective function
• Increased sus. to infections/bleeding lead to short life

Question 9

Identify the cell

Answer 9

Chediak-Higashi

Question 10

Identify the Cell

Answer 10

Chediak-Higashi, note the Massive lysosome inside the cytoplasm

Question 11

Define May-Hegglin Anomaly

Answer 11

• rare auto Dominant condition
• Dohle like bodies (ppt myosin heavy chains) and PLT decreased (giant bizarre forms)
• Usually asympt but at risk for infections/bleeding doesnt usually lead to early death :)

Question 12

ID the cell

Answer 12

May-Hegglin how is this not a dohle body

Question 13

Define Chronic Granulomatous Disease

Answer 13

PMN’s can phago bacteria but defective in the enzyme NADPH oxidase, so can’t kill the bacteria (specifically staphylocci)
Macrophage rich granulomas can obstruct organs

Question 14

How do you diagnose CGD? What happens if it goes untreated?

Answer 14

• Diagnosis: With nitroblue tetrazolium test or flow cytometry (yeah dog, we got flow)
• Untreated: pt usually die from bacteria/fungi from 5-7 yrs old (skill issue)

Question 15

CGD advances in treatment: what percentage of people now survive from the disease? What is used for treatment?

Answer 15

• 90% survival well into adulthood
• prophylactic Ab/antifungal, BM transplant

Question 16

Define: MPO Myeloperoxidase Deficiency

Answer 16

PMN’s have decreased myeloperoxidase enzymes resulting in delayed bacterial killing caused by gene mutations.
Relatively mild in most pt

Question 17

Define Diabetes mellitus associated dysfunction

Answer 17

• poor neutrophil function
• high glucose levels result in abnormal oxidative burst

Question 18

Define LAD leukocyte Adhesion Disorders

Answer 18

• Inability of neutrophils and macrophages to adhere to endothelial cells and migrate from blood to tissues caused by gene mutation
• Increased potentially lethal bacterial infections

Question 19

Define Lazy Leukocyte Syndrome

Answer 19

cells have poor direction and random movement bc can’t respond to chemotactic factors, pt have hx of recurrent infections

Question 20

Define Hairy Cell Leukemia

Answer 20

few to many “hairy’ cytoplasmic projections on lymph
Confused cell- B lymph origin but has features of monocytes

Question 21

ID this cell

Answer 21

hairy cell leukemia

Question 22

Hairy Cell Leukemia Lab findings include:

Answer 22

• splenomegaly
• mod-sev pancytopenia (wbc less than 4,000/mm3)
• often “dry tap”
• TRAP positive

Question 23

Define Sezary Syndrome

Answer 23

Malignant cells that appear as mature lymphs with convoluted, cerebriform nuclear folds

Question 24

ID this cell

Answer 24

Sezary Cells

Question 25

Define Gaucher’s Disease and cellular appearance of macrophages

Answer 25

• Inability to degrade glucocerebroside leads to accumulation in macro/monocytes
• 1 in 17 Ashkenazi jews are carriers
• Cell Appearance: crumbled silk, striated chicken scratch..

Question 26

What is the deficient enzyme in Gaucher’s Disease?

Answer 26

Beta-glucocerebrosidase

Question 27

ID the cell

Answer 27

Gauchers disease cell (scratchy and silky)

Question 28

Define Niemann-Pick Disease and cellular appearance

Answer 28

• Inability to degrade sphingomyelin = accumulation in spleen, liver, lungs, brain BM
• Deficient enzyme - sphingomyelinase
• Appearance: foamy cell/bubbly

Question 29

ID this cell

Answer 29

Neimann-Pick cell

Question 30

Define Tay-Sachs Disease
Deficient Enzyme
Cellular Appearance

Answer 30

• Accum of unmetabolized ganglioside in almost all tissues, normal at birth but at 6mos physical and mental deterioration (death by 4yrs)
• Def Enzyme: Hexosaminidase A
• Cell Appearance: vacuolated lymphs not diagnostic

Question 31

ID this cell

Answer 31

Tay-Sachs

Question 32

Toxic granulation and Alder-Reilly bodies look indistinguishable from each other, but they have different causes. What are their respective causes?

Answer 32

Toxic granulation: severe infection, toxicity, or inflammation

Alder-Reilly bodies: build up of mucopolysaccharides due to enzyme deficiency

Question 33

Toxic vacuolation, Niemann-pick cells, and the vacuoles in Tay-Sach’s disease look similar, but occur in different cell types. What are their respective cell types?

Answer 33

Toxic vacuolation: PMNs and monocytes

Niemann-Pick: macrophages

Tay-Sach’s: lymphocytes

Question 34

Döhle bodies and May-Hegglin inclusions look the same but have a slight difference. What is this difference?

Answer 34

May-Hegglin inclusions may be accompanied by surrounding giant/abnormally shaped platelets. May-Hegglin inclusions are precipitated myosin heavy chains while Dohle bodies are remnant RNA