Pathology Flashcards

1
Q

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

A

Alzheimer disease

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2
Q

Alzheimer is associated with which other genetic disease?

A

Down Syndrome

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3
Q

What are genes associated with Alzheimer’s disease?

A

Early onset: APP (Chr 21), presenilin-1 (Chr 14), presenilin-2 (Chr 1)

Late onset: ApoE4 (Chr 19)

PROTECTIVE: ApoE2 (Chr 19)

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4
Q

What are gross findings of Alzheimer’s disease?

A

widespread cortical atrophy

narrowing of gyri and widening of sulci

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5
Q

What are histological findings of Alzheimer’s disease?

A

Senile plaques: extracellular beta-amyloid core

Amyloid- Beta synthesized by cleaving amyloid precursor protein (APP)

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6
Q

Neurofibrillary tanges (intracellular, hyperphosphorylated tau protein) are associated with what disease?

A

Alzheimer Disease

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7
Q

What are clinical findings of Pick Disease?

A

dementia
aphasia
parkinsonian aspects
personality changes

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8
Q

What area of the brain is spared with Pick Disease?

A

parietal lobe and posterior ⅔ of superior temporal gyrus

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9
Q

What are gross findings of Pick disease?

A

Pick bodies: spherical tau protein aggregates

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10
Q

What are histological findings of Pick disease?

A

frontotemporal atrophy

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11
Q

What are clinical findings of Lewy body dementia?

A

initially dementia and visual hallucinations followed by parkinsonian features

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12
Q

What are histological findings of Lewy body dementia?

A

alpha-synuclein defect

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13
Q

What are clinical findings of Creutzfeldt-Jakob Disease?

A

rapidly progressive (wks to mos) dementia with myoclonus (“startle myoclonus”)

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14
Q

What are gross findings of Creutzfeldt-Jakob Disease?

A

spongiform cortex

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15
Q

What are histological findings of Creutzfeldt-Jakob Disease?

A

prions (PrPc –> PrPsc sheet)

Beta-pleated sheets are resistant to proteases

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16
Q

What are other causes of dementia?

A
Multi-infarct (2nd MCC of dementia in the elderly)
syphilis
HIV
vitamins B1, B3, or B12 deficiency
Wilson disease
NPH
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17
Q

What is the pathogenesis of multiple sclerosis?

A

autoimmune inflammation and demyelination of CNS (brain and spinal cord)

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18
Q

What are clinical symptoms of a patient with multiple sclerosis?

A
optic neuritis (sudden loss of vision resulting in Marcus Gunn pupils)
internuclear ophthalmoplegia
hemiparesis
hemisensory symptoms
bladder/bowel incontinence
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19
Q

What age group does multiple sclerosis most often showing clinical symptoms?

A

20s and 30s

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20
Q

What is the Charcot classic triad of MS?

A

Scanning speech
Intention tremor
Nystagmus

Remember: SIN

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21
Q

What type of hypersensitivity is multiple sclerosis?

A

Type IV Hypersensitivity

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22
Q

What are laboratory findings of multiple sclerosis?

A

increased protein (IgG) in CSF

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23
Q

What can be seen on an MRI of a patient with multiple sclerosis?

A

periventricular plaques with destruction of axons.

multiple white matter lesions separated in space and time

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24
Q

What is the treatment for multiple sclerosis?

A

beta-interferon
immunosuppression
natalizumab

Symptomatic treatment for neurogenic bladder –> catheterization, muscarinic antagonists)

Symptomatic treatment for spasticity –> baclofen, GABA receptor agonist

Symptomatic treatment for pain –> opioids

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25
Q

What is the MC variant of Guillain-Barre Syndrome?

A

acute inflammatory demyelinating polyradiculopathy

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26
Q

What type of cells are injured in acute inflammatory demyelinating polyradiculopathy?

A

Schwann cells –> inflammation and demyelination of peripheral nerves and motor fibers

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27
Q

What are physical findings of acute inflammatory demyelinating polyradiculopathy?

A

symmetric ascending muscle weakness/paralysis beginning in lower extremities

facial paralysis in 50% of cases

autonomic function may be severely affected

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28
Q

What are laboratory findings in acute inflammatory demyelinating polyradiculopathy?

A

increased CSF protein with normal cell count

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29
Q

What pathogens are associated with acute inflammatory demyelinating polyradiculopathy?

A

Campylobacter jejuni and CMV

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30
Q

What type of support is critical in acute inflammatory demyelinating polyradiculopathy patients?

A

respiratory support

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31
Q

What are additional treatment options for patients with acute inflammatory demyelinating polyradiculopathy?

A

plasmapheresis

IV immune globulins

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32
Q

What demyelinating disease is associated with JC virus, AIDS patients, and immunocompromised transplant patients?

A

progressive multifocal leukoencephalopathy

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33
Q

What cells are destroyed in progressive multifocal leukoencephalopathy?

A

oligodendrocytes

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34
Q

Acute disseminated (post infectious) encephalomyelitis is associated with what infections?

A

measles or VZV

OR vaccinations (rabies, smallpox)

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35
Q

What is the pathogenesis of metachromic leukodystrophy?

A

arylsulfatase A deficiency –> buildup of sulfates –> impaired production of myelin sheath

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36
Q

What are physical findings of metachromic leukodystrophy?

A

central and peripheral demyelination with ataxia and dementia

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37
Q

What is the group of diseases that is related to defective production of proteins involved in the structure and function of peripheral nerves or the myelin sheath?

A

Charcot-Marie-Tooth Disease

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38
Q

What is the inheritance pattern of Charcot-Marie-Tooth Disease?

A

AD

39
Q

What physical findings are associated with Charcot-Marie-Tooth Disease?

A

scoliosis and food deformities (high or flat arches)

40
Q

What enzyme is deficient in Krabbe disease?

A

galactocerebrosidase

this deficiency then causes a buildup of galactocerebroside and psychosine –> destroys myelin sheath

41
Q

What are physical findings in Krabbe disease?

A

peripheral neuropathy
developmental delay
optic atrophy
globoid cells

42
Q

Adrenoleukodystrophy typically affects males or females?

A

males

43
Q

What is the pathogenesis of adrenoleukodystrophy?

A

disrupts metabolism of very-long-chain fatty acids –> excessive buildup in nervous system, adrenal gland, and testes –> progressive disease that leads to long-term coma/death and adrenal gland crisis

44
Q

What is the general definition of a seizure?

A

synchronized, high-frequency neuronal firing

45
Q

What is the MC location for a partial (focal) seizure to originate?

A

medial temporal lobe

46
Q

What is the difference between simple partial and complex particle seizures?

A

simple partial - consciousness intact

complex partial - impaired consciousness

47
Q

Below are generalized seizure types. Give a brief description for each.

absence (petit mal)
myloclonic
tonic-clonic
tonic
atonic
A

absence (petit mal) - 3 Hz, no postictal confusion, blank stare

myloclonic - quick, repetitive jerks

tonic-clonic (grand mal) - alternating stiffening and movement

tonic - stiffening

atonic - “drop” seizures (falls to floor); commonly mistaken for fainting

48
Q

What is the definition of epilepsy?

A

a disorder of recurrent seizures

49
Q

What are the MCC of seizures by age?

A

Children - genetic, infection (febrile), trauma, congenital, metabolic

Adults - tumors, trauma, stroke, infection

Elderly - stroke, tumor, trauma, metabolic, infection

50
Q

Unilateral pain for 15 min. - 3 hr with lacrimation and rhinorrhea is descriptive of what type of headache?

A

cluster headache

51
Q

What is the treatment for a cluster headache?

A

inhaled oxygen, sumatriptan

52
Q

Constant bilateral pain for > 30 min (typically 4-6 hr) with NO aura, photophobia, or phonophobia is descriptive of what type of headache?

A

tension headache

53
Q

What is the treatment for a tension headache?

A

analgesics
NSAIDs
acetaminophen
amitriptyline for chronic pain

54
Q

Pulsating unilateral pain with nausea, photophobia, phonophobia or “aura” for 4-72 hr is associated of what type of headache?

A

migraine

55
Q

What is the treatment for migraine headaches?

A

abortive therapies (e.g. triptans, NSAIDs)

prophylactic (propranolol, topiramate, calcium channel blockers, amitriptyline)

56
Q

How can you differentiate between cluster headaches and trigeminal neuralgia?

A

DURATION

trigeminal neuralgia produces repetitive shooting pain in the distribution of CN V and lasts (typically) for < 1 minute. The pain from cluster HAs lasts considerably longer (>15 mins)

57
Q

What are causes of peripheral vertigo?

A

semicircular canal debris
vestibular nerve infection
Meniere disease

58
Q

What will you find if you did a positional test on a patient with peripheral vertigo?

A

delayed horizontal nystagmus

59
Q

What are causes of central vertigo?

A

brain stem or cerebellar lesion (e.g. stroke)

60
Q

What are findings with central vertigo?

A

directional change of nystagmus, skew deviation, diplopia, dysmetria

61
Q

What will you find if you did a positional test on a patient with central vertigo?

A

immediate nystagmus in any direction

62
Q

What is the cause of Sturge - Weber Syndrome?

A

developmental anomaly of neural crest derivatives (mesoderm/ectoderm) d/t activating mutation of GNAQ gene

63
Q

What are physical findings of Sturge- Weber Syndrome?

A

STURGE - Weber

Sporadic
port - wine Stain
Tram track Ca2+
Unilateral
Retardation
Glaucoma
GNAQ gene
Epilepsy
64
Q

What are clinical findings of Tuberous Sclerosis?

A

HAMARTOMAS

Hamartomas in CNS and skin
Angiofibromas
Mitral regurgitation
Ash- leaf spots
cardiac Rhabdomyoma
Tuberous sclerosis
autosomal dOminant
Mental retardation
renal Angiomyolipoma
Seizures, Shagreen patches
65
Q

What are clinical findings of Neurofibromatosis Type I (von Recklinghausen disease)?

A
Cafe-au-lait spots
Lisch nodules (pigmented iris hamartomas)
neurofibromas in skin
optic gliomas
pheochromocytomas
66
Q

What is the genetic mutation in Neurofibromatosis Type I?

A

mutated NF1 tumor suppressor gene (neurofibromin, a negative regulator of Ras) on chromosome 17

67
Q

What are clinical findings in von Hippel-Lindau disease?

A

cavernous hemangiomas in skin, mucosa, organs
bilateral renal cell carcinomas
hemangioblastoma (high vascularity with hyper chromatic nuclei) in retina, brain stem, cerebellum
pheochromocytomas

68
Q

What is the genetic inheritance of von Hippel-Lindau disease?

A

AD

69
Q

What is the genetic mutation in von Hippel-Lindau disease?

A

mutated VHL tumor suppressor gene on chromosome 3 –> constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors

70
Q

What is the MC primary brain tumor in adults?

A

glioblastoma multiforme

71
Q

What is the signature finding seen in CT with a glioblastoma multiforme?

A

“butterfly glioma”

72
Q

What is the histological finding in gliobastoma multiforme?

A

“pseudopalisading” pleomorphic tumor cells

73
Q

What is the 2nd MC brain tumor in adults? Is it benign or malignant?

A

meningioma

benign

74
Q

What are gross findings of a meningioma?

A

often occurs in convexities of hemispheres (near surfaces of brain)

may have a dural attachment “tail”

75
Q

What are histological findings in a meningioma?

A

whorled pattern

psammoma bodies

76
Q

What is the most common cerebellar brain tumor of adults?

A

hemangioblastoma

77
Q

What disease is associated with hemangioblastoma?

A

von Hippel-Lindau syndome

78
Q

What brain tumor is often localized to CN VIII?

A

acoustic schwannoma

79
Q

Bilateral acoustic schwannomas are found in what disease?

A

NF-2

80
Q

Where do oligodendroglioma brain tumors typically localize?

A

frontal lobes

81
Q

What are the histological findings in an oligodendroglioma?

A

chicken wire capillary pattern

oligodendrocytes = “fried egg” cells

82
Q

What is the MC pituitary adenoma?

A

prolactinoma

83
Q

What visual disturbances are seen with a pituitary adenoma?

A

bilateral hemianopia

84
Q

In children, where is a pilocytic (low-grade) astrocytoma usually localized?

A

posterior fossa (e.g. cerebellum)

85
Q

What histological findings are associated with pilocytic (low-grade) astrocytoma?

A

Rosenthal fibers - eosinophilic, corkscrew fibers

86
Q

A highly malignant childhood brain tumor…

A

medulloblastoma

87
Q

What is the histology of a medulloblastoma?

A

Homer-Wright rosettes

Solid, small blue cells

88
Q

What is a complication of a medulloblastoma?

A

can compress 4th ventricle –> hydrocephalus

89
Q

Where is the MC location of an ependymoma?

A

4th ventricle

90
Q

What is the characteristic histology of an ependymoma?

A

perivascular rosettes

91
Q

What is the MC supratentorial tumor of childhood?

A

craniopharyngioma

92
Q

What are complications of a craniopharyngioma?

A

bitemporal hemianopia
increased intracranial pressure
endocrine dysfunction

93
Q

What are complications of a cerebellar tonsillar herniation?

A

coma and death when these herniations compress the brain stem (and inhibit respiration)