Neuro path Flashcards

(72 cards)

1
Q

perifasicular atrophy suggests…

A

dermatomyositis

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2
Q

type II muscle fiber atrophy without type I muscle fiber atrophy suggegsts…

A

prolonged steroids or disuse atrophy

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3
Q

What antibodies are associated with Gottron’s papules and heliotrope rash? They are antibodies against helicase implicated in nucleosome remodeling

A

anti-Mi2 abs

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4
Q

Anti-Jo1 abs are known to be against histidyl-tRNA synthetase, and is associated with what ssx?

A

ILD

nonerosive arthritis

mechanic’s hands

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5
Q

What antibodies are against transcriptional regulators and a/w parneoplastic and juvenile forms of dermatomyositis?

A

Anti-P155 and P140 abs

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6
Q

What will show endomysial inflammatory cell infiltrates and lymphocytes invading non-necrotic tissues?

A

Polymyositis

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7
Q

What is the MC inflammatory myopathy in pts >65yo? What will the biopsy of muscle show?

A

Inclusion Body myositis

rimmed vacuoles

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8
Q

What is the leading cause of rx-induced myopathy?

A

statins

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9
Q

Myosin deficient myopathy especially with corticosteroid treatment could be considered…

A

ICU myopathy

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10
Q

What is the mechanism of X-linked MD?

A

LOF mutation in dystrophin gene

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11
Q

expansions of CTG triplet repeats on DMPK gene are found in what disease?

A

myotonic dystrophy

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12
Q

multisystem disorder involving skeletal muscle weakness, cataracts, endocrinopathies, and cardiomyopathy

Dx?

A

myotonic dystrophy

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13
Q

What is the morphologic hallmark of axonal neuropathies?

A

Wallerian degeneration and reduction in signal strength

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14
Q

neuronopathies - destruction of neurons and secondarily axons (eg herpes zoster, toxins like platinum) will affect what part of a nerve?

A

equally likely to affect proximally and distally

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15
Q

if a disease is affecting nerve roots and peripheral nerves in a diffuse and symmetric pattern, we would call this

A

polyradiculoneuropathy

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16
Q

What will the lab draw of a pt’s CSF that has GBS?

A

increased protein with normal WBC

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17
Q

How long does a person have to have symptoms of Chronic Inflammatory Demyelinating Polyradiculoneuropathy for it to be diagnosed?

A

persisting for 2 or more months

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18
Q

What leads to the ‘onion bulb’ look seen in Chronic Inflammatory Demyelinating Polyradiculoneuropathy?

A

Schwann cell axon junction is target - causing recurrent demyelination and remyelination creating multiple layers around an axon

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19
Q

Which form of Hansen’s disease will have no organisms found in the acid fast blood smear?

A

tuberculoid leprosy

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20
Q

What is paraproteinemic neuropathy associated with? What is it?

A

monoclonal gammopathy

distal sensorimotor polyneuropathy - mild, slow, progresses symmetrically

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21
Q

What disease has autoabs against AChR and can sometimes be associated with thymomas?

A

Myasthenia Gravis

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22
Q

Weakness is worse with exertion in what myopathy?

A

myasthenia gravis

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23
Q

What syndrome blocks ACh release by inhibiting presynaptic Calcium channels?

A

Lambert-Eaton Syndrome

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24
Q

Developmental malformations of the CNS are usually due to chromosomal abnormality or single gene defect that result in…

A

midline, bilateral, symmetric deficit without gliosis

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25
Disruptions, unlike malformations, are more likely to be...
focal, asymmetric, and gliosis associatied
26
What is the MC of congenital CNS abnormalities? What does this most often present as?
neural tube defect MC in spinal cord and lumbosacral region
27
What are two known risk factors for neural tube defects?
folate deficiency MTHFR mutation
28
What is the worst form of spina bifida?
myelomeningocele - meninges and neural tissue projection, motor and sensory dysfunction, loss bowel and bladder, L4/L5 commonly, increased risk infection
29
What is a protrusion of the brain through the skull, usually in the occipital region called? What is it due to and what is it associated with?
Encephalocele ischemic destruction a/w craniofacial abnormalities
30
Anencephaly is what?
absence of brain/calvarium - incompatible with life
31
What is cerebrovasculosa?
If the brain initially protrudes through a defect in the calvarium, it will gradually get destroyed. The small, vascular mass left is this
32
What is the definition of megaencephaly?
brain weight \>1800 grams or 3 SD above the mean
33
What is Lissencephaly? gene mut? ssx?
smooth brain due to abnormal migration during development, no cortical gyri microcephaly Type-1 is mutation in LIS-1 gene severe impairment and seizures
34
During 4-6 weeks of gestation, if there is incomplete separation of cerebral hemispheres across the midline, this is called...
holoprosencephaly
35
What does holoprosencephaly present with?
midline facial abnormalities proboscis - trunk protrusion above single eye single nostril, cleft lip and palate close set eyes - hypotelorism Diabetes inspidis is common a/w trisomy 13 and 18
36
What is the mutation a/w holoprosencephaly?
SHH type protein
37
Agenesis of the corpus callosum will result in...
misshapen lateral ventricles, usually psychomotor retardation
38
What is the failed opening of foramina of Luschka and Magendie called? What is this?
Dandy-Walker Malformation agenesis of vermis; instead has large cystic dilation of fourth ventricle lined by ependyma results in obstruction of CSF flow from fourth ventricle
39
Obstruction of CSF flow out of the fourth ventricle, as caused by Dandy-walker Malformation, results in...
non-communicating hydrocephalus
40
Which Chiari Malformation is more common? When does it present?
Chiari Type I noticed in adolescence or adulthood
41
Which Chiari Malformation is associated with a neural tube defect?
Chiari Type II (Arnold-Chiari) usually a/w myelomeningocele
42
Which Chiari malformation has a decreased volume in the posterior fossa, leading to herniation of cerebellar tonsils and dorsal cerebellum into spinal canal through the foramen magnum?
Chiari Type I
43
What happens in Chiari Type II malformation?
downward displacement of the vermis through foramen magnum hydrocephalus pressure atrophy of displaced brain tissue (w partial or complete paralysis) may have hydromyelia or syringomyelia
44
fluid filled cleft-like cavity lined by glial tissue in inner portion of spinal cord
syringomyelia
45
hydromyelia can be a feature of what two other malformations?
dandy-walker malformation chiari type II
46
hypoxic-ischemic encephalopathy is generally due to decreased oxygen or blood in the perinatal period. In premature infants this will affect... while in term infants it affects...
premature - affect white matter more severely, role in interventricular hemorrhage term - affects cerebral cortex and deep nuclei
47
What is periventricular leukomalacia? What does it look like?
ischemic white matter infarts affecting sick premies with heart defects chalky yellow plaques cystic lesions can develop - multicystic encephalopathy
48
What all goes into the category of cerebral palsy?
any one of many *nonprogressive* neuro disorders in infancy or early childhood *permanently* affect body movement brain damage present at birth but may not be clinically apparent
49
What is the syndrome associated with medulloblastoma or glioblastoma caused by mutation in APC or mismatch repair gene?
Turcot syndrome
50
What is MC characterized by bilateral Schwannomas of vestibulocochlear nerves
neurofibromatosis
51
To dx a CNS tumor, what is the study of choice?
contrast MRI
52
What are three main types of gliomas?
astrocytomas oligodendrogliomas ependymomas
53
What glioma is found mostly in children and young adults, is relatively benign, and grossly may appear cystic with a mural nodule and is well circumscribed. What does it look like microscopically?
pilocystic astrocytoma micro: biphasic pattern, has rosenthal fibers (eosinophilic granular bodies)
54
grossly, this tumor is ill-defined and has a blurred gray white junction microscopically, it is GFAP + and has increased cellularity
diffuse (infiltrating) astrocytoma
55
What kind of astrocytom has bright eosinophilic cell bodies with stout processes?
gemistocytic astrocytoma
56
This astrocytoma is mitotically active, infiltrating, and give the pt a pretty poor prognosis. What is a key word in describing its gross appearance?
anaplastic astrocytoma fleshy
57
What is the MC primary brain tumor? What causes it to arise?
glioblastoma arises de novo
58
What will I see upon imaging of a glioblastoma?
enhancing lesion in rim or ring pattern often crosses midline
59
microscopically, what will I see in a glioblastoma?
necrosis - serpentine or pseudopalisading of tumor nuclei around edges vascular or endothelial cell proliferation forming tufts of vessels - glomeruloid bodies
60
Pt 30-40 yo, affects cerebral hemisphere white matter well-circumscribed, gelatinous gray masses, cysts, focal hemorrhage, or calcifications
oligodendroglioma
61
micro of oligodendroglioma will show what?
fried-egg appearance of monotonous tumor cells with clear halo of cytoplasm tendency to calcify anastomosing capillary network
62
what unbalanced translocation gives a more favorable prognosis in an adult with an oligodendroglioma?
t(1:19)
63
Where is an ependymoma likely located in a child v adult?
* child * near fourth ventricle, unfavorable prognosis * adult * lumbosacral spinal cord, favorable prognosis
64
tumor cells forming rosettes with canals and perivascular pseudorosettes are associated with what gliomas?
ependymomas
65
What will occur if the lesion in the posterior fossa ends up destroying the fourth ventricle?
hydrocephalus
66
a medulloblastoma is exclusively where and in what age of pt?
exclusively in cerebellum, midline in kids 5-10, lateral in adults
67
if a medulloblastoma disseminates through the CSF and mets to cauda equina, this is called...
"drop metastasis"
68
A meningioma is from what cells? How does it cause damage to the brain?
from arachnoid cells/meningothelial cells compresses underlying brain without invading it
69
micro of meningioma will have what?
arachnoid like cells transitional - tumor cells in whorls with hyalinzed and calcified centers - psammoma bodies
70
loss of entire chromosome of 22 or of 22q could cause
meningioma
71
What is the MC CNS neoplasm in immunocompromised pt?
primary CNS lymphoma likely large B cell NHL
72
If a tumor was to met to the CNS, it would likely be from..
lung, breast, or skin (melanoma)