23. Lipid (Lysosomal) Storage Diseases and Histiocytosis

Question 1

1.What defect is found in lipid storage diseases?
a. Subcellular accumulation of unmetabolized material in lysosomes
b. Cellular accumulation of metabolites in cytoplasm
c. Protein accumulation in cellular mitochondria
d. Abnormal sequestration of minerals and trace ele-ments in cellular nuclear organelles

Answer 1

a. Subcellular accumulation of unmetabolized material in lysosomes

Question 2

2. What is the enzyme deficiency seen in Gaucher’s disease?
   a.Sphingomyelinase
   b.Hexosaminidase A
   c. β-Glucocerebrosidase
   d. β-Galactosidase

Answer 2

c. β-Glucocerebrosidase

Question 3

3.Which description best characterizes type I Gaucher’s disease?

a.Found in any ethnic group; multiple neurologic signs,including difficulty in swallowing and manifestations involving brain stem; enlargement of liver and spleen
b. Found primarily in Ashkenazi Jews;enlargement of liver and spleen; anemia thrombocytopenia
c. Found in northern Sweden; neurologic disorders,bone disorders, skin pigment changes
d. Found in Mediterranean populations; hypermetabolic manifestations; fever, lethargy, poor musculature,bone deformities

Answer 3

b. Found primarily in Ashkenazi Jews;enlargement of liver and spleen; anemia thrombocytopenia

Question 4

4.What are the characteristics of Gaucher’s cells?
a.Atypical lymphocytes with foamy cytoplasm
b.Hypersegmented neutrophils with Auer’s rods
c.Large,multilobed monocytes with prominent red granules
d. Histiocytes with blue, folded cytoplasm

Answer 4

d. Histiocytes with blue, folded cytoplasm

Question 5

5. What is the enzyme deficiency seen in Niemann-Pick disease?

a.Sphingomyelinase
b.Hexosaminidase A
c. β-Glucocerebrosidase
d. β-Galactosidase

Answer 5

a.Sphingomyelinase

Question 6

6.What are the characteristics of Niemann-Pick cells?
a.Atypical lymphocytes with large vacuoles
b.Cytoplasm filled with lipid droplets; inconspicuous nucleus
c. Vacuolated histiocytes or foam cells
d.Lymphocytes with Alder-Reilly bodies

Answer 6

b.Cytoplasm filled with lipid droplets; inconspicuous nucleus

Question 7

7.What is the enzyme deficiency seen in Tay-Sachs disease?

a.Sphingomyelinase
b.Hexosaminidase A
c. β-Glucocerebrosidase
d. β-Galactosidase

Answer 7

b.Hexosaminidase A

Question 8

8.What are the clinical features of Tay-Sachs disease?

a.Waxy,jaundiced skin; retarded physical and mental development; cherry-red spot in macula of eye
b. Startle reflex; blindness; macrocephaly;no enlarge-ment of liver, spleen, or lymph nodes
c.Abnormal facial features; deafness; increased body hair, mental retardation; heart damage; structural deformities
d. Splenomegaly;hepatomegaly;eye,skin,nervous system,and lung abnormalities

Answer 8

b. Startle reflex; blindness; macrocephaly;no enlarge-ment of liver, spleen, or lymph nodes

Question 9

9. Which cell is found in Tay-Sachs disease, but is not considered diagnostic?
   a.Atypical lymphocytes with large vacuoles
   b.Cytoplasm filled with lipid droplets; inconspicuous nucleus
   c. Vacuolated histiocytes or foam cells
   d.Lymphocytes with Alder-Reilly bodies

Answer 9

c. Vacuolated histiocytes or foam cells

Question 10

10. Which cell may be found in MPS disorders?

a. Large,foamy histiocytes with blue or green granules
b. Neutrophils with toxic granulation
c. Neutrophils with Döhle bodies
d.Lymphocytes with Alder-Reilly bodies

Answer 10

d.Lymphocytes with Alder-Reilly bodies