Path II Flashcards
What are the features of Tay Sachs disease?
(use the pneumonic)
- T - testign recommended
- A - autosomal recessive
- Y - young death (<4yr)
- S - spot in maula (cherry red spots)
- A - ashkeniazi jew
- C - CNS degeneration
- H - hex A deficiency
- S - storage disease
What are the other names for Tay Sachs disease?
Neuronal lipidosis
GM2 gangliosidosis
The provided microscopic images are characteristic of what condition?
Tay Sachs Disease
Left - ganglion cells w/ lipid vacuolization
Right - prominent lysosome with whorled configuration on EM
What is the most common lysosomal storage disease?
Gaucher Disease
What is the cause of Gaucher disease?
glucocerebrosidase deficiency
-> accumulation of glucocerebroside (main in macrophages)
What unique cells are shown in the provided bone marrow aspirates & which disease are the characteirstic of?
Gaucher cells: histiocytes w/ “crinkled paper” appearance
Gaucher disease
“terribly gauche to arrive at a fancy party in a wrinkled dress”
What is the cause of Niemann-Pick Disease, types A/B?
acid sphingomyelinase deficiency results in storage of sphingomyelin
What is the clinical picture of a patient with Niemann-Pick Disease, types A/B?
early symptoms
failure to thrive -> hepatosplenomegaly & neural regression
brain become atrophic
macular cherry-red spot
Which disease do you see a macular cherry-red spot?
Niemann-Pick Disease, types A/B
Tay-Sachs Disease
The provided microscopic images are characteristic of what condition?
What is the name of each of the cell types?
Niemann-Pick Disease, Type A/B
Left - Foamy histiocyte
Right - Lamellar bodies on EM
Fill out the provided summary table:
The provided images show pathology in what structures?
This is due to what deficiency?
Mamillary body
Thiamine (B1) deficiency
- left - necrosis & petechial hemorrhage
- right - yellow d/t subacute hemorrhage & somewhat atrophic
Thiamine is what vitamin?
B1
Thiamine deficiency can lead to what condition?
Wernicke-Korsakoff Syndrome
&
Wernicke encephalopathy (acute condition)
Chronic severe vitamin B12 deficiency can lead to what condition?
degeneration of the axones in ascendign tractsof posterior columns & descending pyramidal tracts
also, degeneration of brain, nerves of eyes, & peripheral nerves
What conditoin is caracteristic of the shown spinal cord segment with myelin stain?
severe demyelination of the posterior & lateral columns
chronic severe vitamin B12 deficiency
The provided pathology is likely caused by what?
CO poisoning
bilateral necrosis of globus pallidus
What is the chronic CNS sequelae of chronic excessive alcohol use?
cerebellar dysfunction - truncal ataxia, unsteady gait, nystagmus
atrophy & granular cell loss in anterior vermis
Degenerative diseases affect what type of matter?
gray matter disease - loss of neurons
secondary changes in white matter tracts
General cause of degenerative diseases?
protein aggregates that aer resistant to degradation via the ubiquitin-proteasome system
“cellular inclusions”
What is the most common neurodegenerative disease?
Alzheimer’s
most common cause of dementia in the elderly
Almost all individuals in what demographic get Alzeimer disease if they live past 45?
trisomy 21
What pathology is shown in the provided image?
Cortical atrophy (consistent with Alzheimer disease)
What pathology is shown in the provided image?
Cortical atrophy (consistent with Alzheimer disease)
What are the 2 main processes of Alzheimer Disease?
-
Extracellular
- deposition of AmyloidB -> senile plaques
- Intracellular
- accumulation Tau proteins -> neurofibrillary tangles
The left is an H&E stain and the right is a Beta amyloid stain. What is the nme of the structures on the slides? They are characteristic of what disease?
senile plaques (extracellualr accumulation amyloid B)
Alzheimer Disease
The left is an H&E stain and the right is a silver stain. What is the nme of the structures on the slides? They are characteristic of what disease?
Neurofibrillary tangles
Alzheimer Disease
What is the name of the structures shown in the provided congo red stain?
They are seen in what condition?
They increase risk of what situation?
Cerebral Amyloid Angiopathy
Alzheimers disease (but not only seen in AD)
- narrows lumen ; loss of SM - (increases risk of infarct & hemorrhage)
What are they overarching sympoms of frontotemporal dementias?
disorders with progressive deterioration of language & personalty changes
Pick Disease age of onset?
45-65 yr
(younger than Alzheimer)
What is the caue of Pick disease?
Symptoms?
tauopathy: abnormal deposits of hyperphosphorylated tau
alterations in personality (frontal) & language disturbances (temporal)
The provided image is indicative of what pathology?
Pick disease
Frontotemporal atrophy “walnut brain”
The stain on the left is H&E; the stain on the right is Tau immunostain
What is the name of the characteristic cell shown in the samples & what is the probable disease?
Balooned Cell (Pick Bodies)
Pick Disease
What is is the age of onset for Parkinson Disease?
What nerurological symptom is uncommon in Parkinson Disease?
>60 yr
dementia is uncommon
Parkinson Disease is generally responsive to what therapies?
L-DOPA
antichoninergic drugs
What is the name of the characteristic cell shown in the samples & what is the probable disease?
Lewy Body - ubiquitin & a-synuclein round inclusions
Parinkson Disease
A. is a normal brain.
What pathology is shown in the B?
depigmented substantia nigra
Parkinson Disease
What are the symptoms of Diffuse Lewy Body Disease?
combined features of Parkinsonism & dementia
Motor dysfunction
fluctuating attention & cognition and hallucinations
depression, sleep disorder & autonomic dysfunction
If this is a sample from a patient with Diffuse Lewy Body diseae, what immunostain is being used?
alpha-synuclein
small, inconspicuous Lewy bodies seen throughout the brain
A large proportion of patients with Diffuse Lewy Body Disease also show pathology for what disease?
Alzheimer Disease
What is the age of onset for Huntington disease?
Inheritance pattern?
Symptoms?
- 30-40s
- autosomal dominant - fatal
- behavioral changes, chorea, dementia
What is the genetic cause of Huntington Disease?
HD gene on 4p16.3 -> encode huntington protein
normally 6-35 CAG repeat in first exon (higher number -> HD ; higher the number, the earlier the onset)
What condition is depicted in the diseased brain shown on the right of the image?
Huntington Disease
atrophy of basal ganglia & cerebral cortex, dilation of ventricle
The top spinal segment shows the anterior motor roots & the lower spinal segment shows the posterior sensory roots. What do you notice? This is indicative of what condition?
Attenuation of the surface of the anterior motor root (look atrophied)
ALS
ALS is what type of disease?
Degenerative disease affecting motor neurons
