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Neuro > Demyelinating, Degenerative, Genetic, Toxic, Eye Disease > Flashcards

Demyelinating, Degenerative, Genetic, Toxic, Eye Disease Flashcards

1
Q

What are examples of demyelinating diseases?

A

Multiple Sclerosis (MS)

Neuromyelitis Optica/Devic Disease

Acute Disseminated Encephalomyelitis (ADEM)

Acute Necrotizing Hemorrhagic Encephalomyelitis (ANHE)

Central Pontine Myelinolysis

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2
Q

What are examples of degenerative diseases?

A

Alzheimer’s

Frontotemporal Dementias 
--> Pick's
--> Progressive 
      Supranuclear Palsy
--> Vascular Dementia
      Parkinson's

Huntington’s

Amyotrophic Lateral Sclerosis (ALS)

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3
Q

Are demyelinating diseases inherited or acquired?

A

acquired

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4
Q

Describe demyelinating disorders

A

preferentially damage myelin

relative preservation of axons (c/t ischemia where neurons die so axons disappear)

limited capacity for CNS to replenish myelin

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5
Q

Are demyelinating leukodystrophies immunologic or inherited?

A

inherited

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6
Q

Define multiple sclerosis (MS)

A

distinct episodes of neuro deficits separated in time d/t white matter lesions separated in space

–> 1 sx at a time, caused by lesions in diff parts of brain (or brain and spinal cord)

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7
Q

Is MS autoimmune?

A

YES

autoimmune demyelinating disorder

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8
Q

Describe the duration of MS

A

relapsing and remitting episodes of variable duration (wk-mon-yrs)

Neuro def–> gradual partial recovery

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9
Q

What happens to MS patients as they age?

A

frequency of relapses decline, but neuro deterioration continues to be steady

little sx but still progressing

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10
Q

What is the frequent initial presentation for MS?

A

unilateral visual impairment (optic neuritis, retrobulbar neuritis)

(also can be urinary d/t loss of bladder control)

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11
Q

10-50% of patients with this disease develop MS, thus need careful f/u.

A

optic neuritis

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12
Q

What are common brainstem MS sx?

A 
ATAXIA
NYSTAGMUS
CN signs
Intranuclear ophthalmoplegia
----> can't adduct eye
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13
Q

What are common spinal cord MS sx?

A

Motor and sensory impairment of trunk and limbs

spasticity

difficulty with voluntary control of bladder

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14
Q

Are women or men more affected by MS?

A

Women, temperate zones

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15
Q

What are the genetic factors that predispose to MS?

A

15x if 1st degree relative (mother-daughter)

150x if mono twin affected

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16
Q

What genes are implicated in MS?

A

DR2 (MS susceptibility)

IL-2 and 7 receptor genes

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17
Q

When is it rare to get MS?

A

childhood

over 50

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18
Q

Describe the pathway of chronic inflammation in MS

A

CD4+ Th 1 and 17 cells react against SELF-MYELIN Ag and secrete cytokiens

Th1–> IFN gamma–> + macrophages

Th17–> recruit leukocytes

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19
Q

What are in plaque infiltrates in MS?

A

T cells (mainly CD4 but some CD8 and macrophages)

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20
Q

Is MS a disease of the white or gray matter?

A

white (myelin)

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21
Q

What is the gross appearance of MS?

A

multiple well circumscribed, slightly depressed, glassy, gray-tan irregular shaped PLAQUES

with gliosis d/t inflammation–> sclerosis of plaques that make it firmer than surrounding white matter

usually around lateral ventricles with sharp borders

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22
Q

What should be your first thought if you see multiple periventricular plaques on MRI?

A

MS

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23
Q

What structures are affected in MS?

A

optic nerves and chiasm

brainstem

ascending and descending fiber tracts

cerebellum

spinal cord

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24
Q

Are axons preserved in MS?

A

YES–> demyelinating disorder

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25
Q

What is the general progression of plaques in MS?

A
  • ongoing myelin breakdown
  • abundant macrophages (lipid rich, PAS + debris from myelin)
  • perivascular lymphocytes at outer edge of plaque with relative preservation of axons and depletion of oligodendrocytes

–>
quiescent, inflammation disappears, gliosis and astrocyte prolif

–>
not sharply circumscribed, resolving

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26
Q

CSF findings in MS

A

mildly elevated protein

moderate pleocytosis (increased WBC)

increased IgG

Oligoclonal IgG bands

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27
Q

Define neuromyelitis optica

A

BL optic neuritis and spinal cord demyelination AT SAME TIME (spares brain)

considered variant of MS

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28
Q

CSF of neuromyelitis optica

A

Neutrophils, increased opening pressure, turbid (cloudy)

*****looks like CSF of bacterial meningitis, but doesn’t have decrease in glucose

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29
Q

Neuromyelitis optica Ab

A

antibodies to aquaporins (NMO) that maintain astrocyte foot processes (and also BBB)

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30
Q

Neuromyelitis optica tmt

A

steroid and plasmapheresis to remove Ab

immunosuppression

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31
Q

Define Acute Disseminated Encephalomyelitis (ADEM)

A

perivenous encephalomyelitis

diffuse monophasic demyelinating disease that FOLLOW VIRAL infection or immunization

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32
Q

Describe sx onset of Acute Disseminated Encephalomyelitis (ADEM)

A

1-2 weeks after infection

HA
lethargy
coma

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33
Q

What is the prognosis of Acute Disseminated Encephalomyelitis (ADEM)?

A

20% die

80% recover completely

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34
Q

Morphology of Acute Disseminated Encephalomyelitis (ADEM)

A

grayish discoloration around white matter vessels

myelin loss with axon preservation

PMN or lymphocytes

accumulation of lipid-laden macrophages from myelin breakdown

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35
Q

What cells are seen early in Acute Disseminated Encephalomyelitis (ADEM)?

A

PMNs (neutrophils)

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36
Q

What cells are seen late in Acute Disseminated Encephalomyelitis (ADEM)?

A

Mononuclear (lymphocytes)

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37
Q

What is Acute Necrotizing Hemorrhagic Encephalomyelitis (ANHE)?

A

sudden onset of CNS demyelination in YOUNG ADULTS and CHILDREN

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38
Q

What is the prognosis of Acute Necrotizing Hemorrhagic Encephalomyelitis (ANHE)?

A

most often fatal

if survive–> significant defects

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39
Q

What causes Acute Necrotizing Hemorrhagic Encephalomyelitis (ANHE)?

A

recent URI (virus)

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40
Q

Is Acute Necrotizing Hemorrhagic Encephalomyelitis (ANHE) common?

A

No, rare

often distractor

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41
Q

What is Central Pontine Myelinolysis?

A

loss of myelin with neuro sx d/t overcorrection of sodium

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42
Q

What would you see on CT if a patient had Central Pontine Myelinolysis?

A

demyelination in the center of the pons

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43
Q

What are the sx of Central Pontine Myelinolysis?

A 
acute paralysis
dysphagia
dysarthria
diplopia
LOC

all occur very quickly

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44
Q

What causes Central Pontine Myelinolysis?

A

severe electrolyte/osmolar imbalance

–> overcorrection of sodium when hyponatremic

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45
Q

What is the tmt for Central Pontine Myelinolysis?

A

liver transplant

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46
Q

Describe the histology/morphology of Central Pontine Myelinolysis

A

Symmetric loss of myelin in basis pontis and portions of pontine tegmentum

no inflammation

neurons and axons preserved

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47
Q

What is the difference between demyelinating and degenerative diseases?

A

demyelinating–> lose myelin, so WHITE matter

degenerating–> lose neurons first, GRAY matter

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48
Q

Describe degenerative diseases

A

Gray matter

progressive loss of neurons

protein aggregates/inclusions hallmark of diseases
—> CAG, tau, amyloid, etc

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49
Q

How do proteins accumulate in degenerative disease?

A

resistant to degradation through ubiquitin-proteasome system

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50
Q

Protein aggregate/inclusion in Huntington disease

A 
polyglutamine repeats (CAG)
--> mutated protein
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51
Q

Protein aggregate/inclusion in Alzhemier’s disease

A

amyloid beta

–> peptide derived from larger precursor protein

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52
Q

Protein aggregate/inclusion in Parkinson’s disease

A

alpha-synuclein

–> unexplained alteration of normal cellular protein

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53
Q

Define dementia

A

progressive loss of cognitive function

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54
Q

Is dementia a normal part of aging?

A

NO!!!! always pathologic

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55
Q

What is the most common cause of dementia in the elderly?

A

Alzheimer’s

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56
Q

Describe Alzheimer’s disease

A

insidious impairment of higher intellectual function, alterations in mood and behavior

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57
Q

What is the timeline for Alzheimer’s disease?

A

early: impairment of higher intellectual function, mood and behavior changes
late: progressive disorientation, memory loss, aphasia (demonstrates severe cortical dysfunction)

within 5-10 years of sx: profound disability, mute, immobile

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58
Q

Is Alzheimer’s symptomatic before age 50?

A

not typically

if before 50, usually familial form with rapid decline

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59
Q

What is the correlation between age and Alzheimer’s?

A

incidence rises with age

doubles every 5 years

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60
Q

Are most cases of Alzheimer’s disease sporadic or familial?

A

sporadic

5-10% familial

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61
Q

What is necessary to diagnose Alzheimer’s?

A

examine brain (after death)

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62
Q

Describe the atrophy progression in Alzheimer’s disease

A

GLOBAL cortical atrophy with widened sulci

first starts in frontal and temporal lobes, then progresses to parietal and ends with occipital

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63
Q

What hydrocephalus is associated with Alzheimer’s and why?

A

ex vacuo

cortical atrophy in brain–> less mass–> shrinks–> brain compensates with excess fluid–> ventricular enlargement

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64
Q

What general histology do you see in Alzheimer’s?

A

plaques and neurofibrillary tangles

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65
Q

What types of plaque exist in Alzheimer’s and what’s the main difference between them?

A

Neuritic (senile)–> amyloid core

Diffuse–> no amyloid core

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66
Q

Where do you find neuritic plaque in AD?

A

hippocampus, amygdala, neocortex

reactive astrocytes and microglia in periphery

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67
Q

What stain do you use to identify the amyloid core in neuritis plaques of AD?

A

Congo red

derived from amyloid precursor protein (APP)

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68
Q

Where do you find diffuse plaque in AD?

A

superficial cortex, basal ganglia, cerebellum

early stage of neuritic plaque development

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69
Q

What condition has early onset AD?

A

Down syndrome

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70
Q

What is the location of plaque vs tangles in AD?

A

plaques outside of cells

tangles inside cells

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71
Q

Describe neurofibrillary tangle shape

A

bundles of filaments in cytoplasm of neuron

pyramidal neurons–> flame d/t displaced nucleus

globose or basket weave of fibers around nucleus (d/t tangles encircle nucleus)

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72
Q

What is an abnormally hyperphosphorylated, axonal microtubule-associated protein that enhances assembly and is implicated in AD?

A

tau

–> MAP2 and ubiquitin proteins

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73
Q

What stain is used to identify neurofibrillary tangles?

A

Bielschowsky stain (silver stain)

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74
Q

When would you see ghost or tombstone neurofibrillary tangles?

A

when they are resistant to clearance in vivo and the neuron is dead–> just see outline made by tangles

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75
Q

What is highly associated with severe cognitive dysfunction?

A

large number of plaques and tangles

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76
Q

Do tangles or plaques correlate better with degree of dementia?

A

tangles

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77
Q

What are hirano bodies?

A

elongated, glassy, eosinophilic bodies

ACTIN major component

hippocampal pyramidal cells

seen in AD

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78
Q

What is granulovacuolar degeneration?

A

small, clear intraneuronal cytoplasmic vacuoles (lose definition)

normal aging to have few

AD have lots

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79
Q

What is cerebral amyloid angiopathy (CAA)?

A

thick vessel walls with the same amyloid protein as AD

use Congo red stain

accompanies Alzheimer’s disease

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80
Q

What is the significance of Congo red stain?

A

when polarized–> apple green birefringence

means there is amyloid

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81
Q

What is the connection between CAA and AD?

A

if you have Alzheimer’s, you have CAA

if you have CAA, doesn’t mean you have Alzheimer’s

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82
Q

Describe frontotemporal dementias

A

share clinical features of progressive behavior and language changes

with tau: pick, progressive supranuclear palsy

without tau: vascular dementia (HTN related)

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83
Q

Describe sx of Pick disease

A

EARLY ONSET of behavior changes, then language changes

first goes to frontal lobe (behavior changes) then temporal lobe (language disturbances)

84
Q

Describe gross/histo appearance of brain in Pick disease

A

asymmetric atrophy of frontal and temporal lobes

spares posterior 2/3 superior temporal gyrus, occipital and parietal lobes (like someone drew line where atrophy stops)

KNIFE-EDGE thin gyri
–>really wide sulci

Pick cells and bodies (cytoplasmic inclusions, basophilic and stain silver)

85
Q

What is Pick disease?

A

rare, distinct, progressive dementia

most sporadic forms

86
Q

What is the main difference between Pick and AD when looking at the brain?

A

Pick affects frontal and temporal

AD is global atrophy

87
Q

Define progressive supranuclear palsy

A

truncal rigidity in 50-70 Men

fatal within 5-7 years of onset

widespread neuronal loss

globose tangles

tau protein

88
Q

Describe vascular dementia

A

if d/t vasculitis–> dementia improves with treatment

if d/t progressive cognitive disorder a/w vascular injury (HTN): widespread infarction, diffuse white matter injury

89
Q

Degenerative diseases of basal ganglia and brainstem are associated with ______________

A

movement disorders

rigidity, abnormal posturing, chorea (dancing, unpredictable involuntary muscle movements)

90
Q

What pathway is implicated in Parkinson’s disease?

A

nigrostriatal pathway

91
Q

What are sx of Parkinson’s disease?

A

Pill rolling movement of hand

persistent tremors that go away when reaching for something

shuffling gait, small steps that accelerate, hunched over (festinating gait)

slowness of voluntary movement

rigidity

diminished facial expressions

92
Q

What disease is misdiagnosed as Parkinson’s early on?

A

Huntington’s disease

93
Q

Rest tremor vs intention tremor

A

Parkinson vs cerebellar lesion (MS, stroke)

94
Q

Damage to the nigrostriatal dopaminergic system can cause what diseases?

A

Parkinson Disease

Multiple System Atrophy

Postencephalitis Parkinsonism

95
Q

What are sx of Parkinson’s that respond to L-Dopa?

A

tremor

rigidity

bradykinesia

96
Q

What is the inheritance pattern for Parkinson’s?

A

AD

alpha-synuclein on Chr 4

97
Q

What is the protein involved in juvenile AR Parkinson’s?

98
Q

What happens to the substantia nigra in Parkinson’s and why?

A

loses pigment (black to white)

lewy bodies push pigment out to rim of neuron–> when neurons die, lose pigment

99
Q

Describe Parkinson’s disease morphology

A

Pallor of substantia nigra and locus ceruleus

lewy bodies (eosinophilic, dense core of alpha-synuclein and pale halo)

100
Q

Describe dementia with lewy bodies

A

Parkinson disease with cognitive dysfunction
–> 10-15% parkinson patients develop dementia, increases with age

HALLUCINATIONS

lewy neurites contain alpha-synuclein aggregated protein

depigmentation of substantia nigra and locus ceruleus
–> preservation of cortex, hippocampus and amygdala

101
Q

Describe Multiple System Atrophy

A

sporadic disorder, alpha-synuclein in oligodendrocytes with 3 involved systems:

  1. striatonigral circuit–> parkinsonism
  2. ataxia
  3. autonomic dysfunction (ex: orthostatic hypotension)
102
Q

What happens to brain morphology in Huntington disease?

A

Normally, caudate and putamen are round

HD: they become very flat with wide sulci (atrophy)

103
Q

What is unique about Huntington disease?

A

one of few AD lethal diseases

104
Q

Describe Huntington disease

A

progressive movement disorder and dementia

degeneration of striatal neurons

105
Q

Sx of HD

A

jerky, hyperkinetic movements–>chorea (dancing)

106
Q

What is the outlook on HD?

A

death after 15 years

progressive

107
Q

What can you develop in the later stages of HD?

A

Parkinsonism with bradykinesia and rigidity

108
Q

What protein is involved in HD?

A

Huntingtin (toxic gain of fxn)
–> form intranuclear inclusions

CAG repeats on Chr 4p16.3

109
Q

What is anticipation?

A

repeat expansions of CAG during spermatogenesis–> juvenile form HD

110
Q

What is the relationship between HD and CAG repeats?

A

lower number, less likely to get HD or older when have sx

40-50 (adult); over 60 (juvenile)

111
Q

What is the pathology of HD?

A

loss of medium spiny striatal neurons–> dysregulation of basal ganglia circuit that normally dampen motor output

112
Q

Why do you have cognitive changes in HD?

A

neuronal loss from cortex

113
Q

Describe gross brain appearance in HD

A

Striking atrophy of caudate nucleus, then putamen

globus pallidus atrophy

atrophy in frontal lobes

severe loss of striatal neurons, most in caudate nucleus

severity of sx= degree of degeneration

114
Q

What are spinocerebellar ataxias?

A

characterized by sx of cerebellum (progressive ataxia), brainstem, spinal cord and peripheral nerves

neuronal loss from affected area + secondary degeneration of white-matter tracts

115
Q

What are 2 forms of spinocerebellar ataxias?

A

Friedreich Ataxia

Ataxia-Telangiectasia

116
Q

What protein and inheritance type is Friedreich Ataxia?

A

AR

GAA repeat on Chr 9

FRATAXIN protein

also mitochondrial disorder

117
Q

When do you first see Friedreich Ataxia symptomology?

A

First 10 years with gait ataxia

–> hand clumsiness, dysarthria

118
Q

What are reflex grades in Friedreich Ataxia?

A

DTR depressed or absent

extensor plantar reflex + (babinski normally resolves at 24 months)

119
Q

What is a hallmark sx of Friedreich Ataxia?

A

Cardiac arrhythmias and CHF

pes cavus and kyphoscoliosis

loss of pain, temp, sensation, light touch

DM

wheelchair after 5 years

120
Q

What is the COD in Friedreich Ataxia?

A

intercurrent pulmonary infections and cardiac disease

d/t kyphoscoliosis and cardiac issues

121
Q

What is the inheritance and protein in Ataxia-Telangiectasia?

A

AR

ATM gene on Chr 11q22-q23

–> DNA breaks, fails to remove cells with DNA damage

122
Q

When do sx of Ataxia-Telangiectasia first appear?

A

early chilhood

die in 20s

123
Q

What are sx of Ataxia-Telangiectasia?

A

telangiectasis of CNS, conjunctiva, skin of neck, face and arms

lymphoid neoplasms, gliomas, sarcomas

IMMUNODEFICIENCY with recurrent sinopulmonary infections

124
Q

What is unique about Amyotrophic Lateral Sclerosis (ALS)?

A

have both LMN and UMN loss of neurons

125
Q

When does Amyotrophic Lateral Sclerosis (ALS) appear?

126
Q

What is the inheritance and protein involved in Amyotrophic Lateral Sclerosis (ALS)?

A

AD (10% familial)

Superoxide Dismutase (SOD1 on Chr 21)

127
Q

Describe anterior spinal cord roots in Amyotrophic Lateral Sclerosis (ALS)

A

thin

decreased number of anterior horn neurons throughout SC

128
Q

Describe gross brain and muscles in Amyotrophic Lateral Sclerosis (ALS)

A

precentral gyrus atrophic

neurogenic atrophy of skeletal muscles

loss of UMN–> degeneration of corticospinal tracts

129
Q

What inclusions are found in Amyotrophic Lateral Sclerosis (ALS)?

A

bunina bodies

–> PAS+ cytoplasmic inclusions in neurons

130
Q

What are classic sx of Amyotrophic Lateral Sclerosis (ALS)?

A

dropping objects

cramping of arms and legs

speaking and swallowing issues

131
Q

What are progressive sx of Amyotrophic Lateral Sclerosis (ALS)?

A

muscular atrophy

bulbar palsy (degen of lower brainstem–>speaking and swallowing issues)

132
Q

What is the prognosis of Amyotrophic Lateral Sclerosis (ALS)?

A

Half die within 2 years of dx

133
Q

What other sx are involved in Amyotrophic Lateral Sclerosis (ALS)?

A

respiratory infections d/t respiratory muscle involvement

fasciculations d/t involuntary muscle contractions

muscles waste away d/t lack of input

134
Q

What diseases involve alpha-synuclein?

A

Parkinson disease

Multiple System Atrophy

135
Q

What diseases involve Tau?

A

Alzheimer’s

Frontotemporal lobar degeneration

Progressive supranuclear palsy

Corticobasilar Degeneration

136
Q

When would you start to suspect a genetic metabolic disease that affects the nervous system?

A

when kids miss developmental milestones

137
Q

What inheritance are neuronal storage diseases?

138
Q

What are general sx of neuronal storage diseases when they involve the cortex?

A

cognitive dysfunction and seizures

139
Q

How do neuronal storage diseases work?

A

defect in catabolism of sphingolipids, mucopolysaccharides or mucolipids–> accumulation of substrate of enzymes in lysosomes–> neuronal death

140
Q

Are leukodystrophies white or gray matter?

A

white matter

141
Q

Are mitochondrial encephalomyopathies white or gray matter?

A

gray matter

also skeletal muscle

142
Q

What is the inheritance pattern for leukodystrophies?

A

most AR

exception is adrenoleukodystrophy: X linked

143
Q

Describe sx of leukodystrophies

A

deterioration of motor skills

spasticity

hypotonia

ataxia

144
Q

What causes sx of leukodystrophies?

A

myelin abnormalities

lack neuronal storage defects but have lysosomal or peroxisomal enzymes

145
Q

What causes mitochondrial encephalomyopathies?

A

oxidative phosphorylation disorders

mutations in mito genome

affects muscle first, then CNS

146
Q

What enzyme is involved in Tay-Sachs?

A

hexosaminidase A

Chr 15

147
Q

What accumulates in neurons in Tay-Sachs?

A

GM2 gangliosides

148
Q

What is the prognosis of Tay-Sachs?

A

fine until 1 year old–> mental and physical deterioration

death around 2-3

149
Q

Hallmark of Tay-Sachs

A

cherry red spots in maculae

normal choroid against swollen, pale, ganglioside-stuffed retina

150
Q

Define MELAS

A

Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes

151
Q

What is the most common neuro syndrome caused by mitochondrial abnormalities?

152
Q

What is the mutation that causes MELAS?

153
Q

What are sx of MELAS?

A

muscle weakness with lactic acidosis

stroke-like episodes with reversible defects that don’t correspond well to specific vascular territories

154
Q

Define MERRF

A

Myoclonic Epilepsy + Ragged Red Fibers

155
Q

What is the mutation that causes MERRF?

A

tRNA distinct from MELAS

some overlap between the two

156
Q

What are the sx of MERRF?

A

Myoclonus

Seizure disorder

Myopathy

Ataxia (neuronal loss from cerebellum)

see ragged red fibers on stain

157
Q

Describe dysfunction behind Kearn-Sayre syndrome

A

large mitochondrial DNA deletion/rearrangement

158
Q

What are sx of Kearn-Sayre syndrome?

A

PROGRESSIVE inability to move eyes and eyebrows

ataxia

ophthalmoplegia

pigmentary retinopathy

cardiac conduction defects

spongiform change in gray and white matter–> neuronal loss most in cerebellum

159
Q

Describe Leigh Syndrome

A

AKA subacute necrotizing encephalopathy

dark areas of degeneration of neural tissue around aqueduct

nuclear and mitochondrial DNA mutations

lactic acidemia, seizures, hypotonia in early childhood–> DEATH within 2 years

160
Q

Describe general outcomes of Vit B12 deficiency

A

macrocytic, megaloblastic anemia

numbness, tingling, slight ataxia, weakness of extremities

161
Q

Describe neuro sx of Vit B12 deficiency

A

within a few weeks: numbness, tingling, slight ataxia in LE

rapid progression to spastic weakness of LE

end result is complete paraplegia

162
Q

Can neuro sx of Vit B12 be reduced?

A

replacement can reverse sx UNTIL complete paraplegia has occurred

163
Q

Describe histology of Vit B12 deficiency

A

swelling of myelin layers (vacuoles) progress up and down SC via ascending posterior columns and descending pyramidal tracts

–> subacute combined degeneration of SPC (how you get paraplegia)

164
Q

What deficiency causes Wernicke and Korsakoff syndromes?

A

Thiamine (Vit B1)

165
Q

Describe Wernicke encephalopathy

A

acute psychotic sx

ophthalmoplegia (weak eye muscles or paralysis)

166
Q

Is Wernicke reversible?

A

can with thiamine

167
Q

Describe Korsakoff syndrome

A

memory disturbance and confabulation

168
Q

Is Korsakoff reversible?

169
Q

What is a consequence of Beriberi, an what causes it?

A

cardiac failure

thiamine (B1) deficiency

170
Q

Chronic alcoholism causes a deficiency in ______

A

thiamine (B1)

–> carcinoma, chronic gastritis, persistent vomiting

171
Q

What is classic histo for Wernicke encephalopathy?

A

hemorrhage and necrosis of mamillary bodies and walls of 3rd and 4th ventricles

172
Q

Classic gross presentation of hypoglycemia

A

Pseudolaminar necrosis of large pyramidal neurons in cerebral cortex

affects pyramidal neurons of Sommer’s sector of hippocampus and purkinje cells of cerebellum

173
Q

CNS presentation of hyperglycemia

A

confusion
stupor
coma

174
Q

What cells are found in the CNS with hepatic encephalopathy

A

Alz type 2

175
Q

Describe gross appearance of brain in carbon monoxide poisoning

A

RED layers 3 and 4 of cortex, sommer’s sector and purkinje cells

BL necrosis of globus pallidi

176
Q

Describe methanol poisoning

A

selective BL putamenal necrosis

retinal ganglion cell degeneration–> blindness

177
Q

Describe ethanol poisoning

A

chronic alcoholics (1%)–> truncal ataxia, unsteady gait, nystagmus

atrophy of anterior vermis

Bergmann gliosis

178
Q

What can radiation induce?

A

tumors–> sarcoma, glioma, meningioma

179
Q

What histo is seen with radiation?

A

coagulative necrosis, thickened walls with intramural fibrin-like material

180
Q

What is the most common malignant tumor of skin around the eye?

A

basal cell carcinoma

181
Q

What are hallmarks of basal cell carcinoma around the eye?

A 
pearly nodules
telangiectatic vessels
central/rodent ulcer
rolled edged
peripheral palisading nuclei
182
Q

Describe sebaceous carcinoma

A

masquerade syndrome (unilateral keratoconjunctivitis unresponsive to therapy)

necrotic centrally

oil red o fat stain

mets to LN, lung, liver, brain, skull

15% mortality

183
Q

Pinguecula vs Pterygium

A

Pinguecula: benign adjacent to cornea

Pterygium: on cornea and disrupts vision, often removed

184
Q

What is the most common primary intraocular tumor in adults?

A

uveal melanoma

185
Q

What oncogenes are mutated in uveal melanoma?

A

GNAQ and GNA11

although nevi with these genes rarely transform into melanoma

186
Q

Describe morphology of uveal melanoma

A

epithelioid–> worse prognosis

large nuclei, prominent nucleoli, infiltrating plasma cells and lymphs

187
Q

Where do uveal melanomas spread to first?

188
Q

Survival rates of uveal melanoma

A

80% 5 year

40% 10 year

189
Q

Why are corneal transplants unique?

A

lack blood vessels and lymphatics–> no rejection

190
Q

What are cataracts?

A

lenticular opacities that may be congenital or acquired

191
Q

What are risk factors for cataracts?

A 
DM
wilson disease
atopic dermatitis
drugs
radiation
trauma
192
Q

What is nuclear sclerosis?

A

age-related cataracts that result from opacification of lens nucleus

193
Q

What is a posterior subcapsular cataract?

A

migration of the lens epithelium posterior to the lens equator

194
Q

What is a morgagnian hypermature cataract?

A

lens cortex liquefies

195
Q

What is phacolysis?

A

proteins from liquefied lens cortex leaks through lens capsule, clogs meshwork and increases intraocular pressure (–> phacolytic glaucoma)

196
Q

What is glaucoma?

A

collection of diseases with distinct changes in visual field and cup of optic nerve

197
Q

What is most glaucoma associated with?

A

increased intraocular pressure

198
Q

Describe open-angle glaucoma

A

complete open access to trabecular meshwork

increased resistance to aqueous outflow–> increased intraocular pressure

199
Q

What is the most common form of glaucoma and what mutations can be involved?

A

primary open angle glaucoma

MYOC in juveniles

200
Q

Describe the most common form of secondary open angle glaucoma and mutations involved

A

pseudoexfoliation

LOX1 gene

201
Q

What is angle-closure glaucoma?

A

peripheral zone of iris adheres to trabecular meshwork and physically impedes outflow of fluid

202
Q

What is the most common primary intraocular malignancy of childhood?

A

retinoblastoma

neuroblastic origin from retina

Chr 13 long arm, RB gene (nml suppresses development of retinoblastoma)

203
Q

What is the most common sx of retinoblastoma?

A

leukocoria (white pupillary reflex–> one shines white, the affected one doesn’t)

204
Q

Describe pseudohypopyon found in retinoblasoma

A

cells shed into anterior chamber–> aggregate and form nodules on iris or settle inferiorly

205
Q

Where does retinoblastoma metastasize to?

A

skull bones, distal bones, brain, spinal cord, LN, abdominal viscera

206
Q

What is the most common route of escape for retinoblastomas?

A

optic nerve–> brain

poor prognosis when invades optic nerve

207
Q

Histology of retinoblastoma

A

small round blue cells

Flexner-wintersteiner characteristic
Homer wright rosette
Fleurette rosette

Neuro (18 decks)

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