Robbins Chapter 5 Morphology Flashcards
Skeletal abnormalities in Marfan Syndrome
unusually tall with long extremities and long, tapering fingers and toes
Joints of someone with Marfan Syndrome
hand and feet joints are lax suggesting the patient is double jointed
thumb can be hyperextended back to the wrist
Head of a person with Marfan Syndrome
dolichocephalic (long-headed) with protruding frontal eminence and prominent supraorbital ridges
Spinal deformities of a person with Marfan Syndrome
kyphosis or scoliosis or rotation or slipping of dorsal or lumbar vertebrae
Chest of person with Marfan Syndrome
either pectus excavatum or pigeon-breast deformity
Ocular changes in Marfan Syndrome
bilateral subluxation or dislocation of lens referred to as “ectopia lentis”
Cardiovascular lesions in Marfan Syndrome
mitral valve prolapse and dilation of ascending aorta due to cystic medionecrosis
Excessive TGF-b influence on aorta
contributes to aortic dilation
Aortic Dissection
tear in the inner layer of the aorta and can lead to hemorrhage through the aortic wall
seen in Marfan Syndrome
Where does GM2 ganglioside accumulate?
heart, liver, spleen, nervous system
Clinical picture of GM2 ganglioside accumulation
involvement of the neurons in the central and autonomic nervous systems and retina
Histology of neurons in GM2 ganglioside accumulation
ballooned with cytoplasmic vacuoles
each representing a distended lysosome filled with gangliosides
Electron Microsope view of GM2 ganglioside accumulation
cytoplasmic inclusions
whorled configurations within lysosomes composed of onion-skin layers of membrane.
Histo of ganglion cells in the retina in GM2 ganglioside accumulation
cherry-red spot on macula from the emphasized choroid with the pallor of the swollen ganglion cell
Characteristic finding of Tay-Sachs disease
cherry-red spot on macula
Mutation for classic infantile type A Niemann-Pick Disease
missense mutation causes almost complete deficiency of sphingomyelinase
What is sphingomyelin?
ubiquitous component of cellular membranes
Deficiency of sphingomyelin enzyme
blocks degradation of lipids
accumulation within lysosomes
Histo of classic infantile type A Niemann-Pick
affected cells become enlarged due to distention of lysosomes with sphingomylein and cholesterol
Electron Microscopy of cells of classic infantile type A Niemann-Pick
vacuoles are engorged secondary lysosomes that contain cytoplasmic bodies with “zebra” bodies
Where are lipid-laden phagocytic foam cells found for NP Disease
spleen, liver, lymph nodes, bone marrow, tonsils, gastrointestinal tract, and lungs
NP disease influence on the spleen
massive enlargement of the spleen
Involvement of brain and eyes in NP disease
brain - gyri are shrunken and sulci widened, vacuolation and ballooning of neurons
eyes- retinal cherry-red spot (present in 1/3 pts)
Gaucher cells histology
distended phagocytic cells in spleen, liver, bone marrow, lymph nodes, tonsils and Peyer patches
NOT vacuolated
fibrillary type of cytoplasm
