Path II Flashcards by Katherine E Nordstrom

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

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What are the other names for Tay Sachs disease?

Neuronal lipidosis

GM2 gangliosidosis

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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

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What is the most common lysosomal storage disease?

Gaucher Disease

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What is the cause of Gaucher disease?

glucocerebrosidase deficiency

-> accumulation of glucocerebroside (main in macrophages)

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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”

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What is the cause of Niemann-Pick Disease, types A/B?

acid sphingomyelinase deficiency results in storage of sphingomyelin

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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

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Which disease do you see a macular cherry-red spot?

Niemann-Pick Disease, types A/B

Tay-Sachs Disease

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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

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Fill out the provided summary table:

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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

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Thiamine is what vitamin?

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Thiamine deficiency can lead to what condition?

Wernicke-Korsakoff Syndrome

Wernicke encephalopathy (acute condition)

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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

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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

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The provided pathology is likely caused by what?

CO poisoning

bilateral necrosis of globus pallidus

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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

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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