Robbins Chapter 5 Morphology

Question 1

Skeletal abnormalities in Marfan Syndrome

Answer 1

unusually tall with long extremities and long, tapering fingers and toes

Question 2

Joints of someone with Marfan Syndrome

Answer 2

hand and feet joints are lax suggesting the patient is double jointed
thumb can be hyperextended back to the wrist

Question 3

Head of a person with Marfan Syndrome

Answer 3

dolichocephalic (long-headed) with protruding frontal eminence and prominent supraorbital ridges

Question 4

Spinal deformities of a person with Marfan Syndrome

Answer 4

kyphosis or scoliosis or rotation or slipping of dorsal or lumbar vertebrae

Question 5

Chest of person with Marfan Syndrome

Answer 5

either pectus excavatum or pigeon-breast deformity

Question 6

Ocular changes in Marfan Syndrome

Answer 6

bilateral subluxation or dislocation of lens referred to as “ectopia lentis”

Question 7

Cardiovascular lesions in Marfan Syndrome

Answer 7

mitral valve prolapse and dilation of ascending aorta due to cystic medionecrosis

Question 8

Excessive TGF-b influence on aorta

Answer 8

contributes to aortic dilation

Question 9

Aortic Dissection

Answer 9

tear in the inner layer of the aorta and can lead to hemorrhage through the aortic wall
seen in Marfan Syndrome

Question 10

Where does GM2 ganglioside accumulate?

Answer 10

heart, liver, spleen, nervous system

Question 11

Clinical picture of GM2 ganglioside accumulation

Answer 11

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

Question 12

Histology of neurons in GM2 ganglioside accumulation

Answer 12

ballooned with cytoplasmic vacuoles

each representing a distended lysosome filled with gangliosides

Question 13

Electron Microsope view of GM2 ganglioside accumulation

Answer 13

cytoplasmic inclusions

whorled configurations within lysosomes composed of onion-skin layers of membrane.

Question 14

Histo of ganglion cells in the retina in GM2 ganglioside accumulation

Answer 14

cherry-red spot on macula from the emphasized choroid with the pallor of the swollen ganglion cell

Question 15

Characteristic finding of Tay-Sachs disease

Answer 15

cherry-red spot on macula

Question 16

Mutation for classic infantile type A Niemann-Pick Disease

Answer 16

missense mutation causes almost complete deficiency of sphingomyelinase

Question 17

What is sphingomyelin?

Answer 17

ubiquitous component of cellular membranes

Question 18

Deficiency of sphingomyelin enzyme

Answer 18

blocks degradation of lipids

accumulation within lysosomes

Question 19

Histo of classic infantile type A Niemann-Pick

Answer 19

affected cells become enlarged due to distention of lysosomes with sphingomylein and cholesterol

Question 20

Electron Microscopy of cells of classic infantile type A Niemann-Pick

Answer 20

vacuoles are engorged secondary lysosomes that contain cytoplasmic bodies with “zebra” bodies

Question 21

Where are lipid-laden phagocytic foam cells found for NP Disease

Answer 21

spleen, liver, lymph nodes, bone marrow, tonsils, gastrointestinal tract, and lungs

Question 22

NP disease influence on the spleen

Answer 22

massive enlargement of the spleen

Question 23

Involvement of brain and eyes in NP disease

Answer 23

brain - gyri are shrunken and sulci widened, vacuolation and ballooning of neurons
eyes- retinal cherry-red spot (present in 1/3 pts)

Question 24

Gaucher cells histology

Answer 24

distended phagocytic cells in spleen, liver, bone marrow, lymph nodes, tonsils and Peyer patches
NOT vacuolated
fibrillary type of cytoplasm

Question 25

Electron Microscope of Gaucher cells

Answer 25

fibrillary cytoplasm
appearance of crumpled tissue paper
accumulation of glucoceredroside

Question 26

Type I histo for Gaucher disease

Answer 26

spleen enlarged

bone erosion occurs from macrophage and cytokine secretion

Question 27

Where are accumulated mucopolysaccharides found?

Answer 27

mononuclear phagocytic cells, endothelial cells, intimal smooth muscle cells, and fibroblasts
ex. spleen, liver, bone marrow, lymph nodes, blood vessels, and heart

Question 28

Histo of cells affected by MPS

Answer 28

distended and have clearing of the cytoplasm to create “balloon cells”

Question 29

Electron Microscopy of MPS cells

Answer 29

swollen lysosomes containing finely granular periodic acid-Schiff-positive material