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SFM6 > CNS pathophys > Flashcards

CNS pathophys Flashcards

1
Q

spina bifida

A

failure of closure of caudal end of neural tube
related to folic acid deficiency in early pregnancy

compare anencephaly, failure of closure of rostral end, which is perinatal lethal

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2
Q

hydrocephalus

A

excess accumulation of CSF

  • communicating: CSF can leave ventricular system, accumulate in subarachnoid space
  • noncommunicating/obstructive: blockage within ventricular system
  • high pressure: typical
  • normal pressure: in older individuals; triad: gait, urinary incontinence, mental decline
  • ex vacuo: fills space where brain tissue has been lost
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3
Q

upper motor neuron signs

A
  • muscle weakness
  • spasticity resulting from damage to descending motor pathways
  • indicate lesion above anterior horn cell (i.e. CNS)

excessive involuntary motor activity i.e.

  • little wasting
  • increased tone/spasticity
  • brisk reflexes/hyperreflexia
  • primitive reflexes/Babinski
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4
Q

lower motor neuron signs

A
  • muscle weakness
  • flaccidity
  • physio: lower motor neurons prevent excessive muscle movement
  • indicate PNS lesion

lack of voluntary motor activity i.e.

  • wasting
  • low to normal tone/flaccidity
  • hypo or areflexia
  • fasciculations - low threshold for motor neuron irritation
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5
Q

spasticity

A
  • increased tonic stretch reflexes, flexor muscle activity
  • velocity-dependent increase in resistance to passive movement
  • loss of inhibitory descending input

d/t:

  • TBI
  • stroke
  • MS
  • CP
  • spinal cord injury
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6
Q

decerebrate rigidity

A

hands flexed, arm extended

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7
Q

decorticate rigidity

A

arms flexed

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8
Q

CN III damage appearance

A

down and out gaze
ptosis
± edinger-westphal nucleus involvement: mydriasis (dilated pupil)

  • ipsilateral
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9
Q

CN III sensitivity to vascular disease

A

oculomotor (lateral portion) more sensitive than parasympathetic/pupillary (medial)

more likely to cause down/out gaze and ptosis

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10
Q

CN III sensitivity to compression

A

parasympathetic/pupillary (medial) more sensitive than oculomotor

more likely to cause mydriasis

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11
Q

damage to pupillary light reflex

A

CN II optic n. lesion:
- no pupillary light reflex when shined in that eye

CN III lesion:

  • lesioned side never constricts
  • other eye always constricts (doesn’t matter which eye light is shined in)
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12
Q

CN IV damage

A

elevated eye (up and out)
worse with aDduction (medial)
*ipsilateral (unless it affects only the nucleus, which is unlikely b/c it’s so small)

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13
Q

CN VI damage

A

inability to aBduct

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14
Q

CN V damage

A

any or all, depending on lesion

to a division or to the nerve:
- loss of fine touch and pain

to nerve:
- jaw deviates toward lesioned side

to ascending pathways
- contralateral

to nuclei:
- only specific fx of that nucleus

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15
Q

CN VII damage versus corticobulbar damage

A
  • facial weakness
  • upper face: test eyebrow raising
  • lower face: test smiling

corticobulbar:

  • lower face only
  • contralateral

CN VII:

  • upper and lower face
  • contralateral
  • ± loss of taste (anterior 2/3 of tongue)
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16
Q

unilateral deafness

A
  • damage at or before cochlear nuclei of CN VIII

- note that even if damage to central auditory pathway is unilateral, deafness will be bilateral

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17
Q

dysphagia

A

difficulty swallowing

CN X damage

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18
Q

CN XII damage

A

tongue:

  • deviates toward lesioned side
  • atrophy
  • fasciculations
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19
Q

BBB in MS

A

immune cells have components that break down BBB
tight junction abnormalities
down regulation of laminin in BM

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20
Q

BBB in trauma

A

bradykinin –> IL6 –> BBB opening

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21
Q

mx of neurotropic pathogens crossing BBB

A
  • transcellular
  • paracellular: binds to BMECs, taken up by receptor mediated endocytosis
  • Trojan horse
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22
Q

encephalitis

A

inflammation of brain tissue
possible sequela of meningitis
altered mental status

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23
Q

PE and vitals meningitis

A

(not all will be present but should check)

systemic:

  • fever
  • bp, hr: signs of septic shock

skin:
- rash (meningococcal meningitis)

neuro:

  • nuchal rigidity - chin to chest
  • mental status - cerebral dysfunction
  • neuro damage (advanced): hearing loss, vision loss, cranial neuropathies

CV:
- signs of septic shock

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24
Q

sx meningitis

A

triad (~41%)

  • fever
  • HA
  • nuchal rigidity

2+ (~95%)

  • fever
  • HA
  • nuchal rigidity
  • AMS

others:

  • photophobia
  • phonophobia

acute is most common, presents within hours or days
chronic evolving over weeks may also occur

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25
Q

common bacteria meningitis

A
  • most common: strep pneumoniae
    • gram + diplococci
  • 2nd: meningococcal meningitis (Neisseria meningitidis)
    • faster onset, ~13% mortality
    • gram – diplococci
  • pregnant patients, >50 y/o, immunodeficient: listeria monocytogenes
    • gram + rods

<1 y/o

  • group B strep (from delivery)
  • unvaxx: strep pneumonia, H. flu

post-neurosurgery:

  • direct spread into meninges
  • staph aureus
  • pseudomonas aeruginosa
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26
Q

meningococcal meningitis

A

sx:

  • fever
  • N + V
  • HA
  • loss of ability to concentrate
  • severe myalgias
  • bacteremia
  • septic shock
  • DIC
  • – petechia + purpura
  • rapid onset: hours

Pg:

  • Neisseria meningitidis
  • gram – diplococci

Tx:
- ceftriaxone

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27
Q

waterhouse-friderichsen syndrome

A
  • bilateral adrenal hemorrhage
  • often d/t DIC from meningococcemia
  • acute adrenal insufficiency
  • worsening hypotension (in addition to the septic shock)
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28
Q

listeria meningitis

A
  • demo:
  • pregnant
  • > 50 y/o
  • immunodeficient (lympho)

Pg:

  • listeria monocytogenes
  • gram + rods

sx:

  • seizures
  • focal neuro deficits
  • rhombencephalitis (hindbrain)
  • – ataxia
  • – cranial nerve palsies
  • – nystagmus
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29
Q

tx meningitis

A
  • empiric abx
  • try to do an LP quickly to get cultures, but do not delay abx for LP or results

abx:

  • ceftriaxone: neisseria (meningococcal)
  • vancomycin: strep pneumoniae
  • narrow down as Pg data and sensitivity screening returns

special populations

    • ampicillin to cover listeria in pregnant, >50, i.c.
    • cefepime to cover pseudomonas post-neurosurgery (and vancomycin for staph aureus)

also:

  • dexamethasone
  • – initiate prior to abx to prevent worsening damage from inflammatory response killing Pg
  • – only continue if strep pneumoniae once results return (empirically no benefit or harm in others)
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30
Q

viral meningitis sx

A
  • slower onset
  • less likely septic
  • otherwise similar to bacterial
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31
Q

viral meningitis common Pg

A
  • HSV 1 or 2
    • oral and genital lesions
    • more likely to cause encephalitis
  • HIV
    • direct or opportunistic
  • enteroviruses, esp coxsackie
  • arbovirus, esp West Nile
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32
Q

viral meningitis common Pg

A
  • HSV 1 or 2
    • oral and genital lesions
    • more likely to cause encephalitis
  • HIV
    • direct or opportunistic
  • enteroviruses, esp coxsackie
  • arbovirus, esp West Nile
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33
Q

when to order imaging prior to LP

A

always:

  • hx of malignancy
  • immunosuppression
  • focal neurological findings

all patients ideally but do not delay tx in rapidly progressing cases

why:
- space occupying lesions/hydrocephalis –> increased ICP –> risk of brain herniation

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34
Q

LP findings meningitis

A

opening pressure
- tends to be higher in bacterial or fungal infection vs viral

± discoloration, cloudiness, blood
- more likely in fungal, bacterial

elevated WBC

  • neutrophil predominant in bacterial
  • lymphocyte predominant in viral and fungal

CSF protein and glucose
- bacterial: higher protein, lower glucose vs viral

gram stain or culture
PCR
Ag

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35
Q

common Pg chronic meningitis

A

TB
fungal
- cryptococcal and coccidioidal predominant in LA

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36
Q

cryptococcal meningitis

A

Pg:

  • cryptococcus neoformans
    • bird droppings, inhalation

demo:

  • immunosuppressed
  • AIDS w/ CD4 <100

sx:

  • gradual 1-2 wk
  • fever
  • HA
  • malaise
  • later stage: AMS, neuropathies, vision loss, hearing loss
  • ~25% stiff neck, photophobia

dx:

  • HIV risk fx, AIDS signs e.g. thrus, seborrheic dermatitis, low WBC, oral hairy leukoplakia
  • serum and CSF cryptococcal Ag
  • very high opening pressures on LP
  • high lymphocytes CSF
  • elevated protein CSF, normal to low glucose
  • hx used India ink stain of CSF - not taken up by cryptococci –> “white halo”

tx:

  • amphotericin B initial
  • maintenance fluconazole for 3+ mo if HIV+; 1+ year if not i.c. (rare)
  • wait 4 wk or until normal ICP b/f starting HIV treatment if applicable (this is exception to rule of starting w/in 2 wk of dx) - minimize further swelling from immune reconstitution
  • shunt or serial LP may be needed if ICP high enough
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37
Q

IRIS

A
  • immune reconstitution inflammatory syndrome
  • occurs when treating HIV w/ active cryptococcal meningitis
  • immune reconstitution –> increased Pg attack, inflammation, ICP –> worsening damage
  • wait at least 4 wk or until normal ICP (sooner of) to start ARV if +cryptococcal meningitis
  • steroids have been shown to not help with this
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38
Q

coccidioidal meningitis

A

Pg:

  • coccidioides immitis
  • dimorphic fungus
  • endemic to SW

sx:

  • subacute
  • persistent HA
  • weeks to months

demo:

  • mildly i.c. (e.g. diabetes)
  • immunocompetent
  • from endemic region e.g. Central Valley
  • migrant workers

dx:

  • lymphocytic CSF
  • elevated protein, low glucose CSF
  • anti-cocci Abs CSF
  • culture CSF

tx:

  • fluconazole *for life
  • ventriculoperitoneal shunt often needed as hydrocephalus is common
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39
Q

TB meningitis

A
  • subacute
  • lymphocytic CSF
  • elevated protein, low glucose CSF
  • culture or TB PCR CSF
  • hydrocephalus common

tx:

  • rifampin, isoniazid, pyrazinamide, ethambutol
  • dexamethasone in early course
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40
Q

coma - anatomic basis

A
  • bilateral lesions of reticular activating system

- midbrain and rostral pontine tegmentum

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41
Q

glasgow coma score

A

Eye opening

  • 4- spontaneous
  • 3- to voice
  • 2- to pain
  • 1- none

Verbal response

  • 5- normal conversation
  • 4- disoriented conversation
  • 3- incoherent words
  • 2- sounds only
  • 1- none

Motor response

  • 6- normal
  • 5- localizes to pain
  • 4- withdraws to pain
  • 3- flexion response to pain (decorticate posturing)
  • 2- extension response to pain (decerebrate)
  • 1- none

comatose <8

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42
Q

locked in syndrome

A

conscious, awake, eye movement and involuntary only
- typically only vertical eye movement but depends on specific region of damage

damage to all descending corticobulbar and corticospinal tracts, most often in ventral pons

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43
Q

epidural hematoma

A

EDH
superficial to both dural layers
can cross midline

etiology:

  • usually trauma
  • arterial bleed - rapid accumulation

tx:
- surgical emergency

often:

  • associated fracture
  • clotted and unclotted blood
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44
Q

subdural hematoma

A

deep to both dural layers

etiology:
- slow venous bleeding (bridging veins)

tx:
- elective (usually) surgical evacuation

CT:

  • acute: very bright density
  • subacute to chronic: can be isodense with brain
  • crescent-shaped
  • reflects with dural reflection
  • cannot cross midline
  • can be along tentorium
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45
Q

subarachnoid hemorrhage

A

SAH

d/t:

  • ruptured aneurysm
  • trauma
  • ~20% multiple aneurysms

sx:
- acute headache

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46
Q

types of cerebral edema

A

vasogenic

  • BBB abnormality –> more fluid
  • brain tumor, abscess, trauma

cytotoxic

  • failure of Na-K ATPase usually d/t ischemia
  • hypoxia, infarcts
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47
Q

SOL

A

space occupying lesion

e. g.,
- tumor
- infection
- vascular
- traumatic
- toxic e.g. Pb

morbidity and mortality d/t

    • cerebral edema –> compression, herniation
  • disruption of vital neural pathways
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48
Q

single dilated pupil exam finding

A

contralateral compression of CN III

usually SOL

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49
Q

CN III compression associated w/ concern for which artery

A

posterior cerebral artery
proximity means issue w/ PCA e.g. aneurysm can often have CN III compression as first clinical sign, or that something affecting CN III is also likely to affect PCA e.g. SOL/edema/herniation

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50
Q

cerebellar tonsillar herniation

A

–> ischemia of CV centers of medulla oblongata –> death

vulnerable site in SOL

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51
Q

middle cerebral artery infarct

A
    • language
  • spatial attention
  • somatosensory and motor cortex - except lower limbs
  • auditory cortex
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52
Q

lenticulostriate arteries (MCA) infarct

A
  • striatum and lentiform nucleus
  • internal capsule

sx:

  • contralateral weakness
  • sensory loss of face/body
  • possible cognitive deficits
  • depends on specific site
  • – basal ganglia: parkinsonian
  • – thalamus: sensory
  • – internal capsule: motor only

one of most common sites of clinical stroke d/t small size relative to significant fx

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53
Q

anterior cerebral artery infarct

A
  • sensory and motor - lower limbs

- some prefrontal cognition

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54
Q

posterior cerebral artery infarct

A

visual cortex

thalamus (sensory)

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55
Q

TIA

A

<24 h self-resolution

No evidence of injury on MRI

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56
Q

CT or MRI sensitivity in stroke

A

CT faster and better detects acute hemorrhage

MRI no contrast better for ischemic stroke - but not widely used

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57
Q

% of patients w/ decreased mobility following stroke

A

> 50% (age >65)

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58
Q

lateral cerebellar hemisphere lesions

A

ipsilateral limb dysmetria
falling toward side of lesion
± slurred speech
± swallowing difficulty

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59
Q

vermis cerebellar lesions

A

postural issues
trunk instability
symmetric gait instability
usually (–) limb ataxia

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60
Q

floculonodular lobe lesions

A

vertigo

nyastygmus

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61
Q

general sx of cerebellar dysfunction

A 
dizziness/vertigo
n+v
loss of balance
veering
falls
shaky hands, head
clumsiness
slurred speech 
double vision
difficulty concentrating

nystagmus
hypsometric saccades (eye movements)
dysarthria
scanning speech (broken w/ pauses, variable force - overall difficulty modulating speech)
tremor - rural, intention
dysdiadochokinesis - słów, irregular, clumsy mvmnt
dysmetria - varied speed, force, direction of movement, initially overshoot target
gait ataxia - wide, veering, unable to tandem

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62
Q

dysmetria

A 
feature of cerebellar dysfunction
clumsy, unsteady movment
movements varied in force and direction
overshooting target
finger to nose or heel to shin test - pt fully extends arm to reach target
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63
Q

SARA

A

scale for assessment and rating of ataxia

fx:

  • gait
  • stance
  • sitting balance
  • speech disturbance
  • finger chase
  • finger to nose
  • rapid alternating movements
  • heel to shin
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64
Q

causes of hereditary cerebellar ataxia

A

numerous

autosomal dom

  • spinocerebellar
  • episodic

auto rec

  • freidreich’s
  • telangiectasia

x linked
mitochondrial

65
Q

causes of acquired cerebellar ataxia

A 
Vascular
Infectious/Inflammatory
Toxic/Traumatic
Autoimmune
Metabolic
Idiopathic/Iatrogenic
Neoplastic/paraneoplastic
66
Q

autosomal dom hereditary ataxias

A

+ fam hx
10-40 y/o onset
chronic, progressive

67
Q

autosomal rec hereditary ataxias

A

0-20 y/o onset
± FHx
+ non-cerebellar sx
chronic, progressive

68
Q

machado joseph disease

A 
autosomal dom hereditary ataxia
spinocerebellar
SCA3
CAG repeat expansion in ATXN3 gene
childhood-adulthood onset

sx:

  • ataxia
  • dystonia
  • Parkinsonism
  • upper/lower motor neuropathy
  • cognitive impairment
69
Q

freidrich’s ataxia

A

autosomal rec hereditary ataxia
onset age 5-15
GAA repeat expansion in FXN gene (frataxin - iron storage protein in mitochondria)

sx:
- ataxia
- muscle weakness
- areflexia
- scoliosis
* cardiomyopathy
~10% diabetes
- club foot and hammer toes
- intellectual decline
70
Q

ataxia telangiectasia

A

autosomal rec hereditary ataxia
onset <10 y/o usually toddlers
ATM protein - DNA repair

sx:
- ataxia
- oculomotor apraxia
- (eventual) dysphagia
- slurred speach
- motor delay
- mild DM
- respiratory infections
- hair graying
- vitiligo
- telangiectasias (spider veins)
~25% lymphoma, leukemia
71
Q

hyperacute ataxia

A

minutes
usually stroke (cerebellar)
focal and often unilateral

72
Q

acute ataxia

A

days
post-infectious
MS (cerebellum b//c involved in 50-80% of cases)

73
Q

subacute ataxia

A

weeks to months

neoplastic and paraneoplastic

74
Q

chronic ataxia

A

toxic/metabolic

  • alcohol
  • meds
  • vitamin deficiencies

hereditary

neurodegenerative
- multiple system atrophy (MSA)

75
Q

arteries implicated in cerebellar stoke

A

3 main arteries of cerebellum are:

  • SCA (superior cerebellar a)
  • AICA (anterior inferior cerebellar a)
  • PICA (posterior inferior cerebellar a)
76
Q

superior vermian atrophy

A

chronic acquired ataxia
alcohol use disorder

gait imbalance
usually (–) significant limb ataxia

77
Q

Wernike’s encephalopathy

A

triad:

  • ataxia
  • confusion
  • ophthalmoloplegia

chronic acquired ataxia
thiamine deficiency
often associated w/ alcohol use disorder

78
Q

MSA

A

multiple system atrophy
chronic neurodegenerative ataxia
sporadic, progressive
usually ~ 50 y/o onset

sx:

  • cerebellar ataxia
  • dysautonomia (orthostatic, urinary incontinence, ED)
  • Parkinsonism

imaging:
- “hot cross bun” sign on MRI

79
Q

PD

A

parkinson’s
degeneration of dopamine-producing neurons in basal ganglia –> loss of excitatory effect of dopamine on direct and indirect pathways –> decreased voluntary movement

sx:

  • resting tremor
  • rigidity
  • akinesia
  • bradykinesia
  • postural instabiliity
  • shuffling gait
80
Q

huntington’s disease clinical features

A

degeneration of D2-containing output neurons of striatum
loss of indirect pathways inhibiting action –> excess involuntary movement

atrophy of striatum
protein misfolding –> deposits

sx:

  • chorea - quick, repeated, involuntary, dance-like movement
  • athetosis - slow, writhing movements
  • dementia
81
Q

subthalamic nucleus (STN) infarct

A

normal fx:

  • STN drives GPi output neurons
  • loss of STN –> loss of inhibitory output –> excess involuntary movement

sx

  • hemiballismus
  • sudden unilateral flinging of extremities
82
Q

Huntington’s disease genetics

A

autosomal dominant
CAG trinucleotide expansion
coding region

83
Q

Fragile X syndrome genetics

A

X-linked
CGG trinucleotide expansion
5’ UTR

premutation 55-200
full mutation >200

maternal premutation >100 –> 100% incidence of child w/ full mutation

excessive repeats >200 result in transcriptional repression of the gene d/t hypermethylation

84
Q

Myotonic dystrophy genetics

A

autosomal dominant
CTG trinucleotide expansion
3’ UTR

85
Q

Friedreich Ataxia genetics

A

autosomal recessive
GAA trinucleotide expansion
intron

86
Q

fragile X clinical features

A

> 90% cognitive dysfunction, mean IQ 30-45

children:

  • ADHD
  • autistic features
  • hyper extendable joints
  • mitral prolapse

adults:

  • macroorchidism
  • long face
  • large ears
  • prominent jaw
87
Q

fragile X premutation clinical features

A

may be asymptomatic

female
- premature ovarian failure

male
- late-onset tremor ataxia dementia syndrome

88
Q

guidelines for genetic testing

A

don’t test kids for adult onset diseases unless it changes current treatment course (i.e. they would not receive equal treatment benefits if treatment is delayed until adulthood)

89
Q

myotonic dystrophy clinical features

A
  • myotonia (impaired muscle relaxation/spasm)
  • muscular dystrophy
  • cataracts
  • hypogonadism
  • frontal balding

possible severe neonatal form if dramatic CTG repeat expansion from mother

90
Q

frontotemporal dementia/ALS genetics

A

4-nucleotide repeat expansion
CCTG
intron

91
Q

PD tremor

A

pill-rolling tremor
relatively slow
resting tremor - improves with movement (vs cerebellar tremors/essential tremor that get worse with movement)

92
Q

cogwheel rigidity

A

characteristic feature of PD
generalized stiffness
rather than normal gradual/flowing movements of extremities, sort of clicks from one position to the next like a robot in need of oil…
also results in expressionless face, stooped posture

93
Q

motor/premotor cortex lesion

A

contralateral
paralysis
UMN signs (hyperreflexia, etc)

94
Q

frontal eye field (FEF) lesion

A

pt looks toward lesioned side

95
Q

primary somatosensory cortex lesion

A

contralateral
loss of sensation
often accompanies motor/premotor cortex lesion b/c of proximity

96
Q

visual cortex lesion

A

contralateral
hemianopia (vision loss in half of one or both eyes)
also on ddx for hemianopia: stroke

97
Q

broca’s area lesion

A

problem with language generation/word finding

non-fluent speech, difficulty saying what they want to –> frustration

98
Q

wernicke’s area lesion

A

problem with language understanding/interpretation

fluent, nonsensical speech

99
Q

conduction aphasia

A

damage to arcurate fasiculus (connects Broca’s to wernicke’s area)
fluent speech
comprehends but abnormally - speech production does not match comprehension

For example:

Clinician: Now, I want you to say some words after me. Say ‘boy’.
Aphasic: Boy.
Clinician: Home.
Aphasic: Home.
Clinician: Seventy-nine.
Aphasic: Ninety-seven. No … sevinty-sine … siventy-nice…
Clinician: Let’s try another one. Say ‘refrigerator’.
Aphasic: Frigilator … no? how about … frerigilator … no frigaliterlater

100
Q

global aphasia

A

damage to both Broca’s area and wernicke’s area

no normal speech production or comprehension

101
Q

hemispatial neglect

A

lesion to area involved in spatial attention
essentially ignore half of their perceptive field, e.g. only drawing half of a house or ignoring any input on left side of their visual field

102
Q

basal nucleus of meynert lesion

A

cell bodies of ACh producing neurons in brain
anatomically inferior to anterior commissure
loss –> mental decline
seen in AD, huntington’s

103
Q

amygdala damage

A
  • fearless, but placid, behavior
  • hypersexuality
  • overeating
  • inspecting objects by smelling or tasting them
104
Q

hippocampal lesions

A
  • anterograde amnesia

= no new memories

105
Q

mammillary body damage

A

affects memory

106
Q

types of circumscribed gliomas

A

astrocytic:

  • pilocytic astrocytoma (grade I)
  • pleomorphic xanthoastrocytoma (grade II)
107
Q

types of diffuse gliomas

A

astrocytic:

  • diffuse astrocytoma (grade II)
  • anaplastic astrocytoma (grade III)
  • glioblastoma (grade IV)

oligodendroglial:

  • oligodendroglioma and oligoastrocytoma (grade II)
  • anapestic oligodendroglioma and OA (grade III)
108
Q

WHO grade II glioma

A
  • no-low mitotic activity
  • no microvascular proliferation
  • no necrosis
  • no CDKN2A/B homozygous deletions
109
Q

who grade III glioma

A
  • significant mitotic activity
  • no microvascular proliferation
  • no necrosis
  • no CDKN2A/B homozygous deletions
110
Q

who grade IV glioma

A

highest grade

- significant mitotic activity
1+ of:
- microvascular proliferation
- necrosis
- CDKN2A/B homozygous deletions
111
Q

IDH

A

commonly mutated in astroocytoma and glioblastoma

112
Q

1p19q

A

commonly mutated in oligodenroglioma

113
Q

medulloblastoma

A
  • most common malignant pediatric CNS neoplasm
  • malignant embryonal tumor
  • cerebellum
  • > 70% in <16y/o
  • M>F
  • 60% 10 yr survival
114
Q

atypical teratoid rhabdoid tumor (AT/RT)

A
  • children <2yr
  • highly aggressive
  • any location in CNS
  • IN11 loss
115
Q

pilocytic astrocytoma

A
  • grade 1
  • most common childhood glioma
  • 10% cerebral, 85% cerebellar
  • MRI: enhancing, cystic, often calcified
  • most common in NF1, sporadic BRAF
116
Q

pediatric high grade gliomas

A
  • diffuse midline = H3 K27
  • diffuse hemispheric = H3 G34
  • diffuse pediatric type high grade = H3-WT, IDH-WT
  • infant-type hemispheric
117
Q

diffuse intrinsic pontine glioma

A
  • pediatric
  • uniform poor prognosis
  • subset of infiltrating astrocytoma
  • preoperative biopsy now more common d/t clinical trials
118
Q

conductive hearing loss

A

d/t:

  • occlusive ear wax
  • perforated ear drum
  • cholesteatoma - skin cyst of middle ear secretes lytic enzymes that can erode bone
  • otitis media or externa
  • otosclerosis - fusion of stapes to bone of inner ear

dx:

  • weber test: clearer in affected ear
  • rinne test: poor air conduction
119
Q

cholesteatoma

A

skin cyst of middle ear secretes lytic enzymes that can erode bone

sx:

  • conductive hearing loss
  • ear drainage, often foul-smelling
  • sensation of ear fullness
120
Q

otosclerosis

A

fusion of stapes to bone of inner ear

sx:

  • progressive conductive hearing loss
  • hearing loss starts with lower frequencies
121
Q

perforated ear drum

A

sx:

  • conductive hearing loss
  • usually identifiable trigger
  • sudden extremely loud sounds
122
Q

sensorineural hearing loss

A

d/t:

  • noise exposure - high frequencies lost first
  • age - presbycusis - high frequencies usually lost first
  • vestibular schwannoma / acoustic neuroma
  • ototoxic meds
  • meniere’s disease - excess endolymph

dx:

  • weber test: clearer in unaffected ear
  • rinne test: long air conduction (if present) compared to bone, less than other side
123
Q

vestibular schwannoma

A

aka acoustic neuroma

sx:

  • one sided sensorineural hearing loss
  • sensation of ear fullness
  • tinnitus
  • dizziness
124
Q

ototoxic medications

A

some chemo
some abx
heavy metals

125
Q

meniere’s disease

A

excess endolymph

sx:

  • one sided sensorineural hearing loss, can progress to both sides
  • vertigo
  • tinnitus
  • ear fullness
  • generally intense episodes lasting ~20 minutes to an hour
126
Q

benign paroxysmal positional vertigo (BPPV)

A

strong recurrent bouts of vertigo when head moves certain way
–> nystagmus driven by posterior semicircular canal VOR circuit

sx:

  • sudden, severe vertigo
  • dizziness
  • balance problems
  • n&v
127
Q

PPRF lesion

A

paramedian pontine reticular formation
oculomotor
can’t make voluntary eye movements of either eye toward affected side
do move involuntarily w/ VOR

128
Q

FEF lesion

A

frontal eye field (cortex)
oculomotor
always looks toward lesioned side

129
Q

abducens nerve lesion

A

can’t aBduct eye on affected side

abducens nerve = CN6

130
Q

abducens nucleus lesion

A

part of PPRF
can’t make ANY eye movements of either eye toward the affected side
i.e. no voluntary or VOR

131
Q

nystagmus

A

rapid, repeated eye movements

physiologic: if eye rotates too far in one direction, it springs to center
pathologic: this happens too often/repeatedly; slow phase generally is the underlying disorder
- horizontal
- vertical
- gaze evoked (eye drift)

directionality (L/R) defined by direction of fast phase (spring back)

132
Q

horizontal nystagmus

A

vestibular end organ damage

beat toward intact side

133
Q

vertical nystagmus

A

central vestibular processing

134
Q

gaze evoked nystagmus

A

outward beat
difficulty holding eye in eccentric position
“drift”

d/t:

  • damage to brainstem nuclei
  • damage to vestibulocerebellum
  • some meds
  • muscle weakness
135
Q

gaze evoked nystagmus in abducting eye

A

e. g.:
- pt looks right
- right eye moves right (aBducts)
- left eye does not move right (aDduct) as it should
- brain tries to move left eye repeatedly but it doesn’t
- signal keeps being sent through abducens nucleus, to both eyes
- keeps bringing right eye back to center (left beating nystagmus)

indicative of MLF damage
(medial longitudinal fasciculus)

136
Q

tonsillar herniation

A

cerebellar tonsils herniate through foramen magnum

compresses brainstem

137
Q

subfalcine herniation

A

deep to falx (dura)

causes a midline shift (not the only potential cause)

138
Q

uncal herniation

A

thru tentorium cerebelli

139
Q

external herniation

A

thru skull defect

140
Q

saccular aneurysms

A

of arteries in circle of willis

subarachnoid hemorrhage at base of brain

141
Q

deep grey matter / basal ganglia hemorrhage

A

htn-related vascular disease

142
Q

lacunar infarct

A

basal ganglia

htn-related vascular disease

143
Q

lesions w/ mass effect

A

tumor
bleed
abscess

144
Q

lesions w/ no mass gain/loss

A

demyelination

145
Q

lesions w/ loss of tissue

A

infarct

degeneration / atrophy

146
Q

retina and choroid infections

A

blood-borne organisms

may be an early clue to disseminated infectious disease

147
Q

retinal detachment

A

d/t trauma, degeneration, idiopathic

hole in retina –> full detachment

148
Q

epithelial edema (cornea)

A

sx:
- colored haloes around lights

d/t:
- high IOP

149
Q

distortion and ghost images

A

corneal refractive errors, irregular shape

150
Q

age related macular degeneration

A

AMD
causes central scotoma
d/t (usually):
- neovascular tissue growth from choriocapillaris into sub-retinal space

151
Q

parkinson’s disease demo

A 
2nd most common NDD after AD
1% >60
~90% dx >50
<40 very rare but certain genetic forms of early onset PD do exist
M>F 1.5-2x

environmental + genetic

152
Q

PD etiology

A

progressive NDD
loss of DA neurons in SN
- sx appear at 40-60% depletion
dysfunction of DA SN target projections

alpha-syn aggregates

  • in axons and cell bodies
  • as Lewy bodies (extraneuronal) - aggregates surrounding eosinophilic core
153
Q

PD dx

A

clinical dx, ancillary testing in atypical cases

dx:
- bradykinesia
AND
- resting tremor OR rigidity

advanced:

  • dementia
  • psychosis
  • postural imbalance/gait instability
  • dysphagia

other sx:

  • fatigue
  • apathy
  • pain
  • dysautonomia
  • dyskinesias

prodromal:

  • urogenital dysfx
  • constipation
  • hypO-osmia (smell)
  • hypO-tension
  • ED
  • anxiety
  • depression
  • subtle motor impairment
  • sleep disorders e.g. REM sleep behavior disorder
154
Q

dravet syx

A 
rare pet genetic epilepsy syx
refractory epilepsy
neurodevelopmental problems
begins in infancy
drug resistant

tx:
- 2+ ASMs based on efficacy, sfx, tolerability, and access

155
Q

LGS

A

Lennox gastaut syx
mostly d/t identifiable cause e.g. genetics, malformations, infection, injury …

sz:

  • tonic
  • atonic
  • prolonged absence
  • generalized convulsions

often

  • learning difficulties
  • behavioral problems

onset
- age 1-8 usually, as late as adolescence

tx

  • often refractory
  • 2+ ASMs
156
Q

NCSE

A

non-convulsive status epilepticus

persistent mental status change +EEG change (–)motor signs

157
Q

GCSE

A

generalized convulsive status epilepticus
≥5 min continuous seizures or
≥2 discrete seizures w/ incomplete recovery

first line tx:
IV lorazepam

if persistent
barbiturate (fosphenytoin, VPA, or phenobarbital)

refractory
midazolam or propofol

super refractory >24 h
high morbidity
tx pentobarbital coma (medically-induced coma)

158
Q

factors contributing to drug-resistant epilepsy

A

~20-30% of cases

proposed mx:

  • P-gp efflux transporter overexpression
  • target alterations - less sensitive
  • network - seizure-induced structural brain alterations e.g. synaptic reorganization, axonal sprouting, etc.
  • intrinsic severity - increased disease severity = lower drug sensitivity (bigger difference to stabilizing threshold)
159
Q

malignant hyperthermia

A 
life-treating hyper metabolic state
triggers:
- potent volatile inhalational anesthetics
- succinylcholine
- in susceptible ps

SFM6 (10 decks)

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