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System Pathology I -- Roecker > Exam 2: CNS Pt3 > Flashcards

Exam 2: CNS Pt3 Flashcards

1
Q

What is the MC form of CNS malformations? What do they involve?

A

Neural Tube Defects; involve incomplete closure of neural tube during embryogenesis

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2
Q

What Neural Tube Defects have a wide range of clinical presentations that may involve abnormalities in what areas?

A
  • spinal cord or brain
  • meninges
  • bones or spine of cranium
  • tissues overlying spine or cranium
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3
Q

What is a well-known risk factor for Neural Tube Defects? Esp. during what time frame?

A

maternal folic acid (folate) deficiency; esp. during 1st tri of gestation

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4
Q

If a mother takes in adequate amounts of folic acid how much is the neural tube defect risk reduced by?

A

70%

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5
Q

What are the four Neural Tube Defects of our focus?

A
  1. Spina bifida occulta
  2. Myelomeningocele
  3. Encephalocele
  4. Anencephaly
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6
Q

What involves failure of the posterior segment of the vertebral bodies and is the mildest neural tube defect?

A

Spina bifida occulta

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7
Q

Where is spina bifida occulta most commonly discovered?

A

upper cervical spine (C1) or lumbosacral region of spine

may have normal skin or tuft of hair or may be ass. with cafe au lait spot or “dimpling”

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8
Q

What is a more severe form of neural tube defect that involves failed bone formation in posterior elements of lumbosacral spine along with extension of CNS tissue through the bony defect?

A

Myelomeningocele (sometimes called a “severe form of spina bifida”)

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9
Q

What will Myelomeningocele commonly cause?

A
  • severe disability
  • interfers with inds. lower extremity motor and sensory fxns
  • bowel and bladder dysfunction
  • overlying skin may be ulcerated and is prone to inf.
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10
Q

What is a neural tube defect that involves a diverticulum (blind-ended pouching) and where is this occur?

A

Encephalocele; usually occurs at midline of occipital region of skull

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11
Q

How does an Encephalocele manifest?

A

Depends:

  • involve very little neurological involvement and be filled w/ fluid or fibrotic tissues
  • involve larger amounts of brain tissues–> disability (quad or ataxia) or DEATH
  • -craniofacial abnormalities
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12
Q

What is a severe neural tube defect involving failure of anterior end of CNS (telencephalon) to fully develop?

A

Anencephaly

- involves absent formation of forebrain and superior aspects of skull

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13
Q

What typically occurs with Anencephaly?

A

stillbirth; not compatible w/ post-natal life

–or are blind, deaf, and unable to feel pain, and unaware of surroundings

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14
Q

What is an “abnormal widening of the central canal of the spinal cord that creates a cavity” where CSF accumulates? Where does CSF come from?

A

Hydromyelia

  • connected to 4th ventricle of brain
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15
Q

What may Hydromyelia cause?

A

damage to midbrain and cervical spine cord and/ or elevated nerve roots

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16
Q

What other malformation is Hydromyelia associated with?

A

infants who have a Type II Chiari Malformation (Arnold-Chiari) and communicating hydrocephalus

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17
Q

Smaller dilations ass. with Hydromyelia may be asymptomatic, but what may large dilations cause?

A
  • neck or arm pain
  • upper extremity weakness
  • loss of sensations in hands or arms
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18
Q

What is a cyst (fluid-filled cavity) w/in the spinal cord and is most likely to develop in young adult males (~ age 30)?

A

Syringomyelia (“syrinx”)

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19
Q

Where are Syringomyelia most frequently discovered? How many on average does this affect?

A

cervical spine cord

~ 8 in 100,000

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20
Q

What are the cysts of Syringomyelia (“syrinx”) also associated with?

A

Type 1 Chiari malformations

and thought to be ass. with spinal trauma

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21
Q

What condition creates reduced pain and temperature sensation in a “shawl-like” distribution over one or both arms as well as ant. and post. upper thorax?

A

Syringomyelia (“syrinx”)

  • due to disrupting spinothalamic fibers that mediate pain and temp sensation
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22
Q

How does one evaluate for Hydromyelia and Syringomyelia?

A

MRI

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23
Q

What are three Perinatal Brain injuries?

A
  1. Intraparenchymal Hemorrhage
  2. Infarct
  3. Cerebral Palsy
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24
Q

What puts one at risk for Intraparenchymal Hemorrhage and where does it occur and what does it possibly cause?

A

prematurity*

- deep (near ventricles) and may cause hydrocephalus

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25
Q

What can cause chalky plaques/ necrosis or cysts in the supratentorial white matter, that is ass. with prematurity?

A

Infarct

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26
Q

What is a non-progressive motor defect and is due to fetal injury of hypoxia or infection and causes spasticity, dystonia, ataxia, or tremors and is a Perinatal brain injury ass. with prematurity?

A

Cerebral Palsy

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27
Q

What do 1/3 of individuals with Cerebral Palsy have?

A

decrease cognition or seizures

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28
Q

What is an autoimmune conditions involving episodes of CNS demyelination and produces multiple “white matter lesions” described as “plaques”?

A

Multiple Sclerosis (MS)

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29
Q

What is the MC demyelinating disorder?

A

Multiple Sclerosis (MS)

~ 1 in 1,000

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30
Q

What is described as a “multifocal white matter disease”?

A

Multiple sclerosis (MS)

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31
Q

Who is more common to develop Multiple Sclerosis and at what age?

A

Females are 2x as likely, and Dx around reproductive time frame of adulthood

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32
Q

T/F. Multiple Sclerosis has a weak genetic component.

A

False- MS has a STRONG genetic component

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33
Q

Describe the genetic component associated with Multiple Sclerosis.

A

Risk increase of:

  • 150x if monozygotic (identical) twin has it
  • 15x if 1st degree relative has it
  • 3x if have HLA-DR2 allele
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34
Q

What is Multiple Sclerosis classified as?

A

A type IV hypersensitivity

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35
Q

What do the white matter plaques of Multiple Sclerosis contain?

A

abundant T cells (CD4+ and CD8+ T cells) and macrophages

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36
Q

Compare and contrast the Active vs Inactive Plaques of Multiple Sclerosis.

A

Active Plaques –> inflam and myelin debris

Inactive Plaques–> past autoimmune injury and minimal or dormant inflam.

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37
Q

What demyelinating disease features motor and sensory abnormalities, fatigue, diplopia, nystagmus, dysarthria, dysphagia, weakness/clumbsiness, ataxia, muscle spams, pain, numbness, paranesthesia, bladder incontinence, or sexual dysfunction, and maybe cognitive dysfxn ass. with unstable mood, depression, or seizures?

A

Multiple Sclerosis (MS)

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38
Q

T/F. Brain is susceptible to periods of too little or too much glucose or other nutrient deficiencies.

A

True

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39
Q

What are two types of Thiamine Deficiency?

A
  1. Wernicke-Korsakoff syndrome
  2. Beriberi

(vit B1 deficiency)

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40
Q

What syndrome causes CNS injury from thiamine deficiency and is characterized by an acute onset of extreme confusion, amnesia, confabulation, and ataxia?

A

Wernicke-Korsakoff syndrome

vit. B1 deficiency

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41
Q

What type of individuals does Wernicke-Korsakoff syndrome typically affect?

A

inds. suffering from chronic alcoholism

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42
Q

What syndrome characteristically manifests in inds. suffering from chronic alcoholism, but also could be inds. with chronic gastritis, gastric bypass surgery, or persistent vomiting?

A

Wernicke-Korsakoff syndrome

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43
Q

What develops from CNS injury caused by thiamine deficiency (vit B1) and causes lower extremity paresthesia and eventual paralysis, along with nystagmus of eyes?

A

Beriberi

this form = “Dry Beriberi”

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44
Q

What type of Beriberi involves cardiovascular system and increase HR (tachycardia), vasodilation, peripheral edema, and dilated cardiomyopathy?

A

“wet beriberi”

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45
Q

What type of vitamin deficiency injures that spinal cord and causes
“subacute combined degeneration of the spinal cord”?

A

Cobalamin deficiency (B12)

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46
Q

What destroys ascending AND descending tracts of spinal cord, slowly and causes lower extremity ataxia, paresthesia, spastic weakness, and possible paraplegia?

A

Cobalamin (B12) Deficiency

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47
Q

What are two types of Metabolic Glucose Disorders that will affect the CNS?

A
  1. Hypoglycemia

2. Hyperglycemia

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48
Q

What is most likely to occur due to inappropriate/excessive insulin use? What does this mimic in the brain and what areas are brain are most susceptible ?

A

Hypoglycemia; mimics global cerebral ischemia; injury deep areas of brain–> like hippocampus

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49
Q

What is most likely to occur in the setting of inadequately controlled type I or type II diabetes mellitus?

A

Hyperglycemia

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50
Q

How does prolonged hyperglycemia cause injury to the brain?

A

causing a hyperosmolar state and intracellular dehydration

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51
Q

What effects to patients mimic that are experiencing prolonged hyperglycemia to the brain? How does it manifest?

A

mimics effects of acute alcohol intoxication and manifests with confusion, stupor, and possible coma or death

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52
Q

T/F. Neurodegenerative disease are characterized by the destruction of CNS neurons.

A

True

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53
Q

What will virtually all neurodegenerative conditions involve the onset of?

A

Dementia = “a chronic or persistent disorder of the mental processes caused by brain disease or injury and marked by memory disorders, personality changes, and impaired reasoning”

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54
Q

What is defined as: “a chronic or persistent disorder of the mental processes caused by brain disease or injury and marked by memory disorders, personality changes, and impaired reasoning” ?

A

dementia

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55
Q

What are the 5 neurodegenerative disease we are addressing?

A
  1. Alzheimer disease
  2. Parkinson disease
  3. Lewy Body dementia
  4. Huntington disease
  5. ALS (Amyotrophic lateral sclerosis)
56
Q

What is the most common form of dementia?

A

Alzheimer disease

57
Q

What is the age group affected by Alzheimer disease?

A

older adults

  • 3% ppl age 65-74
  • 47% (nearly half) of those over 85 years
58
Q

Death from Alzheimer disease is most likely to occur due to what?

A

lethal pneumonia

59
Q

What type of onset does Alzheimer Disease have?

A

insidious–> disorientation, aphasia, personality change–> eventually complete loss of “executive functioning”

60
Q

When is the more advanced stage of Alzheimers disease likely to occur? How does it manifest?

A

5-10 years after Dx

  • severe disability
  • immobility
  • inability to talk
61
Q

What condition are beta-amyloid plaques known to accumulate in the brain of?

A

Alzheimer disease

- known to have neurotoxic effect

62
Q

What will the beta-amyloid plaques cause in the brain of inds with Alzheimer disease?

A

neurotoxic effect and breakdown cerebral neurons–> forming “neurofibrillary tangles” involving clusters of tau proteins

63
Q

What condition is characterized by beta-amyloid plaques forming neurofibrillary tangles involving clusters of tau proteins?

A

ALZHEIMER DISEASE

64
Q

What are Tau proteins?

A

a microtubule-ass. axonal protein that helps form the structure of neurons–> when neurons break down these accumulate

(therefore ass. with a lot of neurodegenerative diseases)

65
Q

What is a neurodegenerative disease that causes sever motor disturbances due to injury to dopaminergic CNS neurons?

A

Parkinson Disease

66
Q

What conditions has motor movements described as bradykinesia, involving tremor, skeletal muscle rigidity, and instability while standing, and a “stooped” posture?

A

Parkinson Disease

–often refer to these altered motor movements as “Parkinsonism”

67
Q

T/F. Parkinsonism only develops from Parkinson Disease.

A

False– yes, most often it does develop from Parkinson Disease, BUT it can also develop from CNS trauma, toxic exposure that impact dopaminergic neurons, CNS tumors, ADRs

68
Q

What area is characteristically involved in neurodegeneration of Parkinson Disease?

A

substantia nigra of the midbrain

  • causes “pallor” (paleness) of this normally pigmented area
69
Q

Besides the substantia nigra, what other dopaminergic neuron areas can be destroyed with Parkinson Disease?

A
  • cerebral cortex
  • medulla
  • pons
70
Q

What condition has the characteristic neuronal inclusion called “Lewey Body” composed of alpha-synuclein?

A

Parkinson Disease

71
Q

When are most inds. Dx with Parkinson Disease? How long until they are unable to safely walk?

A

middle-to-older adulthood (45-65)

w/in about 10-15 years

72
Q

What condition has the common features of a tremor, a “festinating” gait involving short “shuffling” steps, stooped posture, pill-rolling tremor in hands, and generalized skeletal rigidity?

A

Parkinson Disease

73
Q

What medication can be given to inds with Parkinson Disease?

A

L-DOPA and deep brain stimulation to help improve motor dysfunction, but DO NOT alter progressive nature of it

74
Q

In the later stages of Parkinson Disease, what do about 1/3 of individuals exerpeince?

A

anxiety and depression

75
Q

What is the most likely cause of death in individuals with Parkinson Disease?

A

lethal pneumonia or following a traumatic fall (head injury and form subdural hematoma)

76
Q

What is a neurodegenerative condition that is very similar to Parkinson Disease, but the onset of cognitive dysfunction onsets within a year of the motor defects?

A

Lewy Body Dementia

mainly same features as Parkinson Disease

77
Q

What is discovered in the brain of inds with Lewy Body Dementia?

A

Lewy bodies

78
Q

What is a neurodegenerative disease that develops following an autosomal dominant mutation in the Huntington (HHT) gene on chromosome 4, which codes for Huntington protein? What does this mutation result in?

A

Huntington disease

– unstable trinucleotide repeats of CAG nucleotides

79
Q

T/F. Huntington Disease will increase in severity as it is passed down the germline.

A

True– due to being a trinucleotide mutation (autosomal dominant)

80
Q

How does one get Huntington Disease?

A

an autosomal dominant mutation in Huntington (HHT) gene–> is a genetic anticipation (b/c is a trinucleotide repeat that worsens as gets passed down germline)

81
Q

What does Huntington Disease manifest with?

A
  • dementia
  • neuropsychiatric instability
  • hallucinations
  • chorea (jerky movements)
82
Q

When does Huntington Disease manifest?

A

young adulthood 30-40 years–> therefore is an inherited condition that is NOT congenital

83
Q

Degeneration of the caudate and putamen nuceli of the striatum are characteristic of what condition?

A

Huntington Disease

–but there is widespread cerebral atrophy

84
Q

How soon will Huntington Disease results in death? What do patients MC die from?

A

death w/in about 15 years of Dx

  • lethal pneumonia
  • chocking
  • unintentional injuries
  • suicide
85
Q

T/F. Huntington Disease has strong ass. with suicide due to guilt of potentially passing it onto children and the severe dementia and hallucinations.

A

true

86
Q

What is a neurodegeneration that causes destruction of BOTH upper motor neurons and lower motor neurons?

A

Amyotropic lateral sclerosis (ALS or Lou Gehrig’s Disease)

87
Q

What are the upper motor neurons involves in ALS?

A

Betz cells of motor cortex on posterior aspect of frontal lobe

88
Q

What are the lower motor neurons involved in ALS?

A
  • cortiocospinal and corticobulbar tracts of spina lcord
  • anterior horn cells of spinal cord
  • ventral nerve roots
89
Q

When is ALS most likely to occur? In what sex?

A

sporadically during 5th decade of life (during 40’s)

males

90
Q

What manifests gradually with subtle weakness in distal extremities and muscle fasciculations and is extremely aggressive in worsening symptoms and w/in a year or two from onset one will be in a wheelchair?

A

ALS (Amyotropic lateral sclerosis)

91
Q

What area muscles/area is uniquely NOT affected in ALS?

A

extraocular muscles

also cognition and dementia

92
Q

Is ALS a fatal disease? How soon? How?

A

Yes, most die of lethal pneumonia or choking w/in 3 years from onset of weakness

93
Q

Is there any genetic factor with ALS?

A

10% of ALS patients, it is genetic–> irregularity in superoxide dismutase gene (SOD1) –> promote apoptosis of motor neurons

autosomal dominant

94
Q

T/F. Indviduals that inherit the SOD1 gene mutation are more likely to have a later onset of their ALS condition.

A

False– it is an early onset at about 20-40 years

non-inherited ALS– during 40s

95
Q

T/F. Intracranial CNS tumors are more common than intraspinal tumors.

A

true

intracranial–> 15 per 100,000
intraspinal–> 2 per 100,000

96
Q

T/F. Most CNS tumors are due to metastasis.

A

False– most (75%) of CNS tumors are primary CNS tumors, arising form w/in CNS

97
Q

What are clinical features of CNS tumors, regardless the type?

A
  • unexplained HAs
  • seizures
  • focal neurological deficits
  • increased ICP
98
Q

What are the three main forms of Gliomas? What age groups ass?

A

(transformed glial cells)

  1. astrocytomas (adults/diffuse)
  2. oligodendrogliomas (adults/diffuse)
  3. ependymomas (pediatrics/localized)
99
Q

Most adults who develop a glioma will develop which type?

A

astrocytoma

100
Q

What age and where are astrocytomas most likely to manifest?

A

age 30-60 and in cerebral hemispheres, like frontal lobe

101
Q 
Astrocytomas are categroized based on grades. Describe them:
Grade I
Grade II
Grade III
Grade IV
A

Grade I –> well-differentiated
Grade II –> diffuse astrocytomas
Grade III –> anaplastic astrocytomas
Grade IV –> “glioblastomas”

102
Q

What is the survival rate of astrocytomas?

A

1-5 years and 5 years at the best

103
Q

What is the most aggressive and most lethal tumor in adults?

A

glioblastomas (Grade IV Astrocytoma)

–15 month survival

104
Q

What is a benign astrocytoma that has a characteristic cystic appearance and develops in children or young adults, and MC develop in cerebellum or spinal cord?

A

Pilocytic astrocytoma

–well-demarcated boarder and greater likelihood of being resected when compared to other astrocytomas

105
Q

What is a CNS tumor that is a glioma type and is about 10% all adult gliomas, and can be benign or malignant?

A

Oligodendroglioma

106
Q

What is the survival rate of oligodendrogliomas?

A

well-differentiated (low grade) –> 10-20 years survival

more anaplastic (high grade)–> 5-10 years survival (only high grade = malignant)

107
Q

Where are oligodendrogliomas most likely to manifest and what age?

A

cerebral hemispheres, esp. frontal or temporal lobes

aduts 30-50

108
Q

What is a malignant glioma that most likely develops in periventricular locations and near central canal of spinal cord or next to 4th ventricle within first two decades of life?

A

ependymoma

109
Q

What age do ependymoma most likely manifest? What may they cause?

A

first two decades of life

obstruct CSF flow and cause hydrocephalus

110
Q

Adults who develop ependymomas are likely to have what other condition?

A

(NF2) Neurofibromatosis type 2

111
Q

What can be detected due to presence of ependymal rosettes, or “fibrillary” appearance, or “spoke-wheel” arrangement?

A

ependymomas

112
Q

What are malignant embryonal neoplasms that develop within pediatrics exclusively in cerebellum, frequently at midline of infratentorial cerebellum?

A

Medulloblastoma

113
Q

How do Medulloblastoma manifest at cellular level?

A

contain “small round cells”

Homer-wright rosettes

well-circumscribed

114
Q

When are Medulloblastomas MC Dx?

What is their survival rate?

A

age 9

75% for children who undergo surgical excision and radiation

115
Q

What is the most common CNS neoplasm among immunocompromised individuals, as in AIDS?

A

Primary central nervous system lymphoma

116
Q

What is Primary central nervous system lymphoma?

A

a rare form of lymphoma or CNS cancer (1-2%) and is characteristic of AIDS

117
Q

Individuals with Primary central nervous system lymphoma, uniquely test positive for what infection?

A

Epstein-Barr Virus (EBV) —mono

118
Q

T/F. Primary central nervous system lymphoma is almost always of the “diffuse large B cell lymphona”.

A

true

119
Q

What CNS tumor arises from tranformed arachnoid cells? Where are they located?

A

Meningiomas

  • any surface of CNS
  • w/in ventricular system
120
Q

T/F. Meningiomas can be benign or malignant, and about 90% are malignant.

A

False– about 90% are BENIGN

121
Q

What CNS tumor will present as “whorled” or “syncytial” cellular cluster histologically?

A

Meningiomas

122
Q

Who and what age are most likely to have meningiomas?

A

females 2x likely

middle to older adulthood

123
Q

What other condition are Meningiomas associated with?

A

(NF2) Neurofibromatosis type 2

124
Q

What percent of CNS tumors does Secondary metastasis into the CNS constitute for?

A

25%

125
Q

What are the most common tissue types to metastasis into CNS?

A
  • lung cancer (MC)
  • breast cancer
  • melanoma
  • kidney cancer
  • cancer of GI tract
    (these make up 80% of all cancers that mets to CNS)
126
Q

T/F. Mets to CNS will manifest usually as an isolated tumor.

A

False– they manifest with multiple metastatic lesions

come onnnnnnn

127
Q

What appearance does metastasis cancer to the CNS have?

A

well-demarcated boarders and “polka dot” appearance

manifest at junction b/w grey and white matter

128
Q

What are the two familial tumors syndromes that have mutations in tumor suppressor genes that are of our focus on how they affect the CNS?

A
  1. Tuberous Sclerosis

2. Von Hippel-Lindau Disease

129
Q

What autosomal dominant familial tumor syndrome develops following mutated TSC1 or TSC2 tumor suppressor gene?

A

Tuberous Sclerosis

130
Q

What familial tumor syndrome allows for multiple benign tumors and cysts to develop throughout the body?

A

Tuberou Sclerosis

131
Q

What are the CNS-related features of Tuberous Sclerosis?

A

cortical hamartomas–> sometimes called “tubers” along the subependymal hamartomas

  • seizures
  • cognitive impairment
  • obstructive hydrocephalus
132
Q

What features does Tuberous sclerosis have on other body features?

A

benign tumor or cysts in multiple organ systems

angiofibromas = cutaneous nodules across nasal bridge and cheeks

133
Q

What is an autosomal dominant familial tumor syndrome that develops following mutated VHL tumor suppressor gene?

A

Von Hippel-Lindau Disease

134
Q

What does mutations in VHL tumor suppressor genes allow?

A

(ass. with Von Hippel-Lindau Disease)

- multiple hemangioblastomas to develop

135
Q

What are hemangioblastomas?

A

highly-vascular tumors of of small thin-walled vessels

ass. with Von Hippel-Lindau Disease

136
Q

What are the CNS related features of Von Hippel-Lindau Disease?

A

formation of multiple CEREBELLAR hemangioblastomas

possible hemangioblastomas in brainstem, spinal cord, or spinal nerve roots

137
Q

What is a characteristic feature of Von Hippel-Lindau Disease?

A

Retinal involvement
Produces:
- diplopia
- blindness

System Pathology I -- Roecker (14 decks)

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