Deck 23: Lipid Lysosomal Storage Diseases and Histiocytosis

Question 1

What is the most common form of Niemann-Pick disease?

A) Adult
B) Infantile
C) Adolescent
D) Juvenile
E) None of the above

Answer 1

Infantile

Question 2

Which of the following is a characteristic of type II Gaucher's disease:

A) Occurs in infancy
B) Neurologic involvement
C) Hepatosplenomegaly
D) A much rarer form of Gaucher's disease
E) All of the above

Answer 2

All of the above

Question 3

What is the etiology of the lipid storage diseases?

A) Caused by various enzyme defects (inborn errors) in lipid metabolism
B) Alteration to the multipotential stem cell
C) Red cell membrane defect
D) Hemoglobin defect
E) None of the above

Answer 3

Caused by various enzyme defects (inborn errors) in lipid metabolism

Question 4

In Niemann-Pick disease there is an accumulation of __________ in histiocytes as well as cholesterol.

A) Unmetabolized triglycerides
B) Metabolized triglycerides
C) Unmetabolized lipid sphingomyelin
D) Metabolized chylomicrons
E) None of the above

Question 5

What is the most common type of Gaucher's disease?

A) Adult
B) Infantile
C) Juvenile
D) Subacute
E) None of the above

Question 6

Gaucher's disease is due to a deficiency of the enzyme __________.

A) Sphingomyelinase
B) Hexosaminidase A
C) β-Glucocerebrosidase
D) Sulfaminidase
E) None of the above

Question 7

All of the following are characteristic of the three types of Gaucher's disease except:

A) Hepatosplenomegaly
B) Gaucher cells present in bone marrow
C) Increased serum acid phosphatase
D) Hypercalcemia
E) None of the above

Question 8

One factor that distinguishes true Gaucher cells from pseudo-Gaucher cells is:

A) Cell size
B) Morphological characteristic
C) β-Glucocerebrosidase deficiency
D) Acid phosphatase level
E) None of the above

Question 9

Which of the following are hematologic findings in Gaucher's disease?

A) Normocytic normochromic anemia
B) Decreased iron in erythroid precursors
C) Leukopenia
D) Thrombocytopenia
E) All of the above

Question 10

Which type of Gaucher's disease has the longest survival rate?

A) Adult
B) Infantile
C) Juvenile
D) Subacute
E) None of the above

Question 11

Which of the following lipid storage diseases has increased incidence in the Jewish ethnic group?

A) Gaucher's
B) Tay-Sachs
C) Niemann-Pick
D) All of the above
E) None of the above

Question 12

Niemann-Pick disease is caused by a deficiency of __________.

A) Sulfaminidase
B) β-Glucuronidase
C) β-Glucocerebrosidase
D) Sphingomyelinase
E) Hexosaminidase A

Question 13

Type II Gaucher's disease comprises the __________ form.

A) Adult or non-neuronopathic
B) Infantile acute neuronopathic
C) Juvenile neuronopathic
D) Subacute neuronopathic
E) None of the above

Question 14

What substance is present in excess in Gaucher cells?

A) Metabolized glucocerebroside
B) Unmetabolized glucocerebroside
C) Metabolized hexosaminidase
D) Unmetabolized hexosaminidase
E) None of the above

Question 15

What are the morphologic characteristics of a Gaucher cell?

A) 20-100 µm in diameter
B) A round to oval nuclei
C) Cytoplasm faintly blue
D) Cytoplasm has a "crumpled tissue paper" appearance
E) All of the above

Question 16

Gaucher cells are which type of cells?

A) Megakaryocytes
B) Erythrocytes
C) Histiocytes
D) Macrophages
E) None of the above

Question 17

Type III Gaucher's disease comprises the __________ form.

A) Adult
B) Non-neuronopathic
C) Acute neuronopathic
D) Subacute neuronopathic
E) None of the above

Question 18

The aim of control in the lipid storage diseases is directed at:

A) Controlling anemia
B) Prenatal detection
C) Correcting bone malformation
D) Dietary nutrition to lower cholesterol
E) Hyperlipidemia

Question 19

Which sites are most frequently examined in patients with Gaucher's disease?

A) Peripheral blood
B) Bone marrow
C) Spleen
D) All of the above
E) None of the above

Question 20

Type I Gaucher's disease comprises the __________ form.

A) Adult or non-neuronopathic
B) Infantile acute neuronopathic
C) Infantile malignant neuronopathic
D) Juvenile neuronopathic
E) None of the above

Question 21

Clinical manifestations of sea-blue histocyte syndrome include all of the following except:

A) Splenomegaly
B) Hepatomegaly
C) Thrombocytopenia
D) Epistaxis
E) Enlarged lymph nodes

Question 22

In Tay-Sachs disease, the number and size of vacuoles present in __________ in the peripheral blood is related to the duration of disease.

A) Myelocytes
B) Lymphocytes
C) Monocytes
D) Megakaryocytes
E) None of the above

Question 23

In some patients with mucopolysaccharidoses, leukocytes such as lymphocytes and polymorphonuclear leukocytes (PMNs) contain abnormally large granules. These large granules are called:

A) Alder-Reilly bodies
B) Howell-Jolly bodies
C) Döhle bodies
D) Chédiak-Higashi anomaly
E) May-Hegglin anomaly

Question 24

Tay-Sachs disease is caused by a deficiency of __________ with an increase of __________.

A) Hexosaminidase A/sphingomyelinase
B) Hexosaminidase B/lipase
C) B-Glucocerebrosidase/sulfaminidase
D) Hexosaminidase B/hexosaminidase A
E) Hexosaminidase A/hexosaminidase B

Question 25

All of the following are morphological characteristics of the histiocytes found in Niemann-Pick disease except:

A) 20-90 µm in diameter
B) Inconspicuous nucleus
C) Light blue cytoplasm with Wright's stain
D) Myeloperoxidase positive
E) Sudan Black B positive

Question 26

The mature histiocytes present in eosinophilic granuloma, Hand-Schüller-Christian disease, and Letterer-Siwe disease are called __________.

A) Eosinophils
B) Langerhans' cells
C) Plasma cells
D) Lymphocytes
E) Giant cells

Question 27

Which of the following is/are general characteristic(s) of sea-blue histiocytosis?

A) Striking blue histiocytes with Wright's stain
B) Splenomegaly
C) Hepatomegaly
D) Thrombocytopenia
E) All of the above

Question 28

In Tay-Sachs disease, there is an accumulation of unmetabolized __________, which has devastating effects on the central nervous system and eyes.

A) GM₂ ganglioside
B) Sphingomyelin
C) Glucocerebroside
D) Hexosaminidase A
E) Hexosaminidase B

Question 29

Which stain is used to aid in confirmation of Alder-Reilly bodies?

A) Wright's stain
B) New methylene blue
C) Giemsa stain
D) Toluidine blue
E) Prussian blue

Question 30

The major site of pathology in Tay-Sachs disease is the __________.

A) Spleen
B) Central nervous system
C) Lymph nodes
D) Bone marrow
E) Liver

Question 31

Nonmetabolized products of mucopolysaccharides may be detected in the __________ of patients with mucopolysaccharidoses (MPS).

A) Cerebral spinal fluid (CSF)
B) Synovial fluid
C) Urine
D) Gastric juice
E) None of the above

Question 32

In this mucopolysaccharidosis, individuals are abnormally short and have a "gargoyle" appearance with coarse facial features. Patients are mentally retarded, and the heart is damaged due to accumulation of mucopolysaccharides in the blood vessels. Hepatosplenomegaly is present.

A) Hunter's syndrome
B) Hurler's syndrome
C) Sanfilippo's syndrome
D) Scheie's syndrome
E) None of the above

Question 33

The mucopolysaccharidoses are characterized by accumulations of unmetabolized __________ within lysosomes.

A) Sphingomyelin
B) Sphingolipids
C) Mucopolysaccharides
D) Hexosaminidase A
E) None of the above

Question 34

The presence of __________ may be seen with Niemann-Pick cells in the bone marrow of some adult patients.

A) Sea-blue histiocytes
B) Mast cells
C) Macrophages
D) Osteoclasts
E) None of the above

Question 35

Which is significant regarding the appearance of lymphocytes and monocytes in the peripheral blood of a person with Niemann-Pick disease?

A) Dark blue nucleus
B) Vacuolated cells
C) Blue-gray cytoplasm
D) Nucleoli present
E) None of the above

Question 36

Histiocytes produced in sea-blue histiocyte syndrome will stain positive with all the following except:

A) Periodic acid-Schiff (PAS)
B) Toluidine blue
C) Sudan Black B
D) Acid fast
E) None of the above

Question 37

Which organ(s) is/are affected by products of the mucopolysaccharidoses?

A) Spleen
B) Bone marrow
C) Liver
D) Lymph nodes
E) All of the above