Ch. 5 morphology boxes

Question 1

Most striking feature of marfan syndrome?

Answer 1

skeletal abnormalities

Question 2

Describe skeletal abnormalities of those with marfan syndrome?

Answer 2

• unusually tall
• exceptionally long extremeties
• long tapering fingers and toes
• joint ligaments in hands and feet are lax (double jointed)
• Dolichocephalic (long-headed)
• spinal deformities
• pectus excavatum or a pigeon breast chest

Question 3

What is the most characteristic ocular change of marfan syndrome?

Answer 3

bilateral subluxation or dislocation (usually outward and upward) of the lens, referred to as ectopia lentis

Question 4

What is the most life threatening feature of Marfan syndrome?

Answer 4

cardiovascular lesions

Question 5

What are the two most common cardiovascular lesions of Marfan Syndrome?

Answer 5

1: mitral valve prolapse
2: dilation of the ascending aorta due to cystic medionecrosis

Question 6

In Marfan Syndrome, weakening of the media predisposes to an intimal tear, which may initiate an intramural hematoma that cleaves the layers of the media to produce what?

Answer 6

Aortic dissection

Question 7

What dominates the clinical picture of GM2 gangliosidosis?

Answer 7

involvement of neurons in the central and autonomic nervous systems and retina.

Question 8

Describe the histological presentation of neurons in GM2 gangliosidosis.

Answer 8

Ballooned with cytoplasmic vacuoles, each representing a markedly distended lysosome filled with gangliosides

Question 9

What stains are positive in GM2 gangliosidosis?

Answer 9

Stains for fat such as oil red O and Sudan black B

Question 10

What can be seen by electron microscope in GM2 gangliosidosis?

Answer 10

cytoplasmic inclusions, most prominent being whorled configurations within lysosomes composed of onion-skin layers of membranes.

Question 11

What happens to the ganglion cells in the retina, particularly at the margin of the macula in GM2 gangliosidosis?

Answer 11

They become swollen

Question 12

What is a characteristic finding of Tay-Sachs disease and other storage disorders affecting the neurons?

Answer 12

A cherry-red spot appears in the macula

Question 13

What type of mutation is involved in Niemann-Pick type A?

Answer 13

missense mutation that causes almost complete deficiency of sphingomyelinase

Question 14

Describe the cell in Neimann-Pick Disease type A.

Answer 14

• Affected cells become enlarged due to the distention of lysosomes with sphingomyelin and cholesterol.
• Foamy cytoplasm

Question 15

In frozen sections of fresh tissue in Niemann-Pick Disease type A what do the vacuoles stain for?

Answer 15

Fat

Question 16

Describe what you see on electon microscope of Niemann-Pick Disease Type A

Answer 16

-Confirmation that vacuoles are engorged secondary lysosome that often contain membranous cytoplasmic bodies resembling concentric lamellated myelin figures sometimes called ZEBRA BODIES

Question 17

What organ is often massively enlarged in Niemann-Pick Disease?

Answer 17

Spleen

Question 18

What happens to Gyri and sulci of the brain in Niemann-Pick Disease type A?

Answer 18

gyri shrink and sulci widen

Question 19

Describe the neurons in Niemann-Pick Disease

Answer 19

Vacuolation and ballooning of neurons

Question 20

How prevalent is a retinal cherry-red spot in Niemann-Pick Disease?

Answer 20

1/3 to 1/2 of individuals

Question 21

In Gaucher disease, where are the distended phagocytic cells known as Gaucher cells found?

Answer 21

Spleen, Liver, bone marrow, lymph nodes, tonsils, thymus, and peyer patches

Question 22

Describe the Gaucher cells

Answer 22

• fibrillary type of cytoplasm likened to crumpled tissue paper
• enlarged
• one or more dark eccentrically placed nuclei

Question 23

what type of staining is positive in Gaucher cells?

Answer 23

Periodic acid-Schiff staining

Question 24

What is seen with an electron microscope of Gaucher cells?

Answer 24

The fibrillary cytoplasm can be resolved as elongated, distended lysosomes, containing the stored lipid in stacks of bilayers.

Question 25

Describe the spleen in Gaucher Disease?

Answer 25

enlarged, sometimes up to 10 kg

Question 26

Describe the lymphadenopathy in Gaucher Disease?

Answer 26

Mild to moderate and body-wide

Question 27

Describe the bone pathology in Gaucher Disease?

Answer 27

• Produces areas of bone erosion that can give rise to pathologic fractures
• Bone destruction occurs due to the secretion of cytokines by activated macrophages

Question 28

Where are Gaucher cells found in patients with cerebral involvement?

Answer 28

• Virchow-Robin spaces

- arterioles are surrounded by swollen adventitial cells

Question 29

in MPSs, where are the accumulated mucopolsaccharides generally found?

Answer 29

• mononuclear phagocytic cells
• endothelial cells
• intimal smooth muscle cells
• fibroblasts

Question 30

What are the common sites of involvement in MPSs?

Answer 30

• spleen
• Liver
• bone marrow
• lymph nodes
• blood vessels
• heart

Question 31

What do cells look like microscopically in MPSs?

Answer 31

distended and have apparent clearing of the cytoplasm to create so called “balloon cells”.

Question 32

Describe what is seen under the electron microscope in MPSs.

Answer 32

The clear cytoplasm can be resolved as numerous minute vacuoles. These are swollen lysosomes containing a finely granular periodic acid schiff positive material that can be identified as mucopolysaccharide.

Question 33

Some of the lysosomes in neurons of MPSs are replaced by what?

Answer 33

Lamellated zebra bodies similar to those seen in Niemann-Pick Disease.

Question 34

What are the common features that run through all MPSs?

Answer 34

• hepatosplenomegaly
• skeletal deformities
• valvular lesions
• subendothelial arterial deposits, particularly in the coronary arteries
• lesion in the brains

Question 35

What are the important causes of death in MPSs?

Answer 35

myocardial infarction and cardiac decompensation