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Neuro > Lecture 13: Miscellaneous Neuro Disorders > Flashcards

Lecture 13: Miscellaneous Neuro Disorders Flashcards

1
Q

What are the 4 characteristics of Multiple Sclerosis? (MS)

A
  1. Chronic inflammation
  2. Demyelination
  3. Gliosis (plaques/scarring)
  4. Neuronal loss
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2
Q

What is the hypothetical etiology of MS?

A

Environmental agent/event occurs in a patient with genetic predisposition to immune dysfunction, resulting in autoimmune attack on CNS

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3
Q

What exactly happens in MS?

A
  • Breakdown of myelin
  • Unsuccessful attempt at remyelination resulting in plaques/sclerosis
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4
Q

What are the autoreactive lymphocytes that break down myelin?

A
  • Inflammatory T cells
  • B cells
  • Macrophages
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5
Q

Who is MS MC in?

A
  • Females
  • Caucasians and Northern US

For men, MS occurs later in life as well.

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6
Q

What MS version occurs earlier?

A

Relapsing Remitting MS (RRMS)

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7
Q

What are the primary RFs for MS?

A
  • First-degree relative 7x risk
  • Hypovitaminosis D
  • EBV
  • Smoking

Identical twin adds the most risk

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8
Q

How does MS present?

A
  • Abrupt or insidious
  • Asymptomatic to severe
  • Episodes can be very far apart in time and location
  • Uhthoff phenomenon: Symptoms worsen by body temp increases
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9
Q

What are the sensory symptoms associated with MS?

A
  • Paresthesias
  • Hypesthesia
  • Unpleasant sensations
  • Pain (neuropathic and MSK)
  • Lhermitte’s symptoms (shock-like sensation down legs)
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10
Q

What happens to the eyes in MS?

A
  • Optic neuritis (usually unilateral)
  • Blurred vision
  • EOM pain
  • Central field visual changes
  • RAPD (swinging light test)
  • Optic disc changes like atrophy post optic neuritis.
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11
Q

What are the motor symptoms associated with MS?

A
  • Weakness worsened by exercise
  • Bell’s palsy-like weakness
  • Diplopia with EOM
  • Spasticity
  • Hyperreflexia
  • Babinski
  • Intention tremor
  • Dysarthria

Suggestive of UMN changes

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12
Q

What CNs are involved in MS?

A
  • TN (CN V), but presents bilaterally and before age 50
  • Facial Myokymia (CN VII): Involuntary twitching of facial muscles
  • Glossopharyngeal neuralgia (CN IX): Shock-like pain in posterior pharynx/tongue/ear when swallowing or without warning

5, 7, 9

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13
Q

What happens to the bladder in MS?

A
  • Detrusor hyperreflexia
  • Detrusor sphincter dyssynergia
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14
Q

What GU symptoms are present in MS?

A
  • Loss of detrusor control
  • Bowel changes (constipation)
  • Sexual dysfunction
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15
Q

What mental changes occur in MS patients?

A
  • Mild cognitive dysfunction
  • Depression
  • Fatigue (90% of pts)
  • Vertigo
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16
Q

How do neurological symptoms occur in terms of timing in MS?

A
  • 10-120s at a time
  • 5-40x a day

Thought to be due to spontaneous discharges from neurons at the end.

Usually self-limiting.

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17
Q

What neurological symptoms occur in MS?

A
  • Lhermitte’s
  • Tonic contractions
  • Dysarthria
  • Ataxia
  • Sensory disturbances
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18
Q

What is clinically isolated syndrome for MS?

A
  • First MS attack
  • Must last 24 hrs and characteristic of MS but doesn’t meet full criteria
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19
Q

What is the MC type of MS?

A

Relapsing-remitting MS (RRMS)

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20
Q

How does RRMS tend to present?

A
  • Disecrete relapses/attacks that evolve over time. (Relapse: days to weeks)
  • Periods of partial/complete recovery in between (Remission: weeks to months)
  • In between attacks, patients are neurologically stable
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21
Q

How does secondary progressive MS tend to present?

A

RRMS that involves deterioration in function separate from attacks

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22
Q

How does primary progressive MS tend to present?

A

Steady decline from the onset.

No remission or relapse.

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23
Q

How is MS diagnosed?

A
  1. 2+ episodes of both signs and symptoms that reflect different areas anatomically, via MRI lesions or visualized
  2. Symptoms >24h and separated by 1 month in recurrence
  3. MRI Brain with gadolinium showing either acute MS lesions (large with ill-defined margins) or chronic lesions (small with well-defined margins)
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24
Q

When is evoked potential testing indicated for MS?

A
  • Asymptomatic patients
  • Should show a marked delay in latency, which is diagnostic even in an asymptomatic patient
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25
Q

When is CSF analysis used to diagnose MS and what is a positive finding?

A
  • Anyone with CIS or atypical presentation, aka MRI non-diagnostic.
  • Oligoclonal bands (OGB) should be seen, representing the disease-causing antibodies
  • Increased intrathecal synthesized IgG
  • Mild WBC elevation
  • Normal-mild elevated proteins
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26
Q

What are considered red flags/atypical presentations of MS?

A
  • Posterior fossa/craniocervical junction/spinal cord symptom localization
  • Younger than 15 or older than 60
  • Progressive from onset
  • None of the other symptoms besides neurological
  • Atypical diagnostics

Posterior fossa = ataxia, imbalance
CC junction = neck pain, HA, balance, voice, dysphagia, respiratory/OSA, dysarthria

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27
Q

How do labs present in MS initially? What are the labs normally used in workup of MS?

A
  • Normal.
  • ESR
  • B12
  • ANA
  • Treponemal antibody (Syphilis)
  • Lyme titer
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28
Q

What are the 3 management categories for MS?

A
  • Acute attack
  • Disease-modifying
  • Symptomatic
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29
Q

When is acute therapy used for MS and what are the treatments?

A
  • Indications: CIS/acute exacerbations.
  • Mainstay: Glucocorticoids: methylprednisolone
  • Plasma exchange (For pts unresponsive to glucocorticoids)
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30
Q

What is the goal of disease-modifying therapy (DMT) in MS?

A

Reducing frequency of relapses and evolution of new lesions

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31
Q

What should be done prior to DMT for MS?

A

Screening for Hep ABC and VZV and JC antibodies

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32
Q

What is the BBW of DMT for MS?

A

Risk of progressive multifocal leukoencephalopathy due to JC virus

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33
Q

What are the 3 treatment modalities that fall under DMT for MS?

A
  1. Monoclonal antibodies
  2. Oral therapy
  3. Platform injection therapy
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34
Q

What is the MOA of monoclonal antibodies in DMT for MS?

A

Decreasing immune response

Theyre all either monthly, q6monthly, or annually.

Annual: alemtuzumab starts with a for annually :)

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35
Q

What drug classes are part of the oral therapies in DMT for MS?

A
  1. Fumarates (antioxidants, BID dosing)
  2. Sphingosine 1-phosphate receptor modulators/S1PRs (preventing lymphocyte release to PNS, QD dosing)

Fumarates end in fumarate
S1PRs end in -imod

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36
Q

What are the 2 drugs for platform injection in DMT for MS?

A
  1. Galtiramer acetate (SQ 3x/week or QD)
  2. Interferon beta (SQ or IM ranging from QOD to biweekly)
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37
Q

How is ataxia/tremor managed in MS?

A
  • Clonazepam
  • Propranolol
  • Primidone
  • Thalatomy/DBS
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38
Q

How are spasticity and spasms managed in MS?

A
  • Avoiding triggers: infection, fecal impaction, bed sores
  • PT/exercise
  • Baclofen/intrathecal for severe
  • Muscle relaxants
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39
Q

When do we treat weakness in MS and with what?

A
  • K+ channel blocker: dalfampridine
  • Indication: LE weakness interfering with ambulation
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40
Q

How is pain managed in MS?

A
  • Anticonvulsants
  • TCAs
  • Pain management if all else fails
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41
Q

How is bladder dysfunction managed in MS?

A
  • Hyperreflexia: Frequent voiding and less intake at night + oxybutynin
  • Dyssynergia: Terazosin
  • Treat UTIs (esp if pts have post void residuals of > 200mL)
  • Self-catheterization
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42
Q

What are the treatments for fatigue in MS?

A

ALL OFF-LABEL

stimulants and amantadine

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43
Q

What factors suggest a better prognosis for MS?

A
  • Optic neuritis or sensory at onset.
  • Less than 2 relapses in the first year
  • Minimal impairment after 5 years.
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44
Q

What factors suggest a worse prognosis for MS?

A
  • Truncal ataxia
  • Action tremor
  • Pyramidal symptoms
  • Progressive disease
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45
Q

What are the best patient education tidbits for MS?

A
  • Eat healthy
  • Be positive
  • Swimming is good
  • Go stand in the sun and correct your Vit D deficiency
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46
Q

Define cerebral palsy.

A
  1. Group of disorders causing permanent, non-progressive motor dysfunction that affects tone, posture/and or movement
  2. Often accompanied by sensation, cognition, communication, perception, behavior, or seizure disorders/disturbances
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47
Q

What is the primary cause of cerebral palsy?

A

Congenital insult to the developing brain within the perinatal/delivery period

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48
Q

What are the modifiable RFs for cerebral palsy?

A
  • Maternal smoking
  • Maternal alcohol use
  • Maternal obesity
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49
Q

What is the leading cause of childhood disability?

A

Cerebral Palsy (CP)

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50
Q

What are the protective factors for CP?

A
  • Mg Sulfate
  • ABX
  • Corticosteroids

Obstetrical care

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51
Q

How does CP present?

A
  • Gross motor delay in year 1
  • Hypotonia => spasticity
  • Hand preference before 12 mo
  • Asymmetric crawling
  • Growth disturbances
  • Hyperreflexia
  • Potentially persistent primitive reflexes

Hand preference early on = red flag for hemiplegia

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52
Q

What is the MC type of CP and how does it present?

A
  • Spastic CP
  • Increased tone (Hypertonia)
  • Hyperreflexia
  • Muscle contractures
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53
Q

What characterizes Dyskinetic CP?

A
  • Involuntary movements
  • Hyper/hypotonia
  • Trouble maintaing upright position
  • Dysarthria
  • Intellectual disability
54
Q

What is the rarest type of CP and what characterizes it?

A
  • Ataxic CP
  • Impaired balance/coordination
  • Slow, jerky, explosive speech
  • Hypotonia
  • Poor Motor skills
  • Difficulty with auditory/visual processing
55
Q

When is CP typically diagnosed and how?

A

Clinically after age 2 due to postnatal brain development

56
Q

What labs are generally ordered in workup of CP DDx r/o?

A
  • Thyroid
  • Ammonia
  • Lactate/pyruvate
  • Organic/amino acids
  • Chromosome analysis
  • CSF total protein (elevated in neonatal asphyxia)
57
Q

What imaging is used for CP evaluation?

A
  1. Cranial US for unstable neonates unable to do MRI/CT, but requires MRI f/u.
  2. CT
  3. MRI brain (after 2-3 weeks of age)

Normal imaging does not exclude CP!!!

58
Q

What is the main goal of managing CP?

A

Maximizing function

59
Q

How do we manage spasticity in CP?

A
  • Muscle relaxants
  • BZDs
  • Botox
  • Intrathecal baclofen pumps
  • Dorsal rhizotomy
60
Q

How do we manage dystonia, chorea, and athetosis in CP?

A
  • Anticholinergics
  • Dopaminergics
  • BZDs
  • DBS
61
Q

What are the main complications associated with CP?

A
  • Respiratory issues
  • GERD/constipation
  • Decubitus ulcers
62
Q

Define Complex Regional Pain Syndrome (CRPS)

A
  • Inflammatory disorder of a region (usually ext), characterized by pain, swelling, limited ROM, vasomotor instability, skin changes, and patchy bone demineralization
  • Often follows trauma
  • MC seen in 30-60y
63
Q

How does the acute stage of CRPS present?

A
  • 3 months
  • Neuropathic pain that is constant and disproportionate and exacerbated by ambient factors
  • Limb use is prevented by pain
  • Swelling, erythema, and edema
  • Bone demineralization occurs
64
Q

How does the subacute stage of CRPS present?

A
  • 9 months
  • Persistent pain and fixed edema
  • Cyanosis or pallor
  • Dry, atrophic skin
  • Atrophy of SQ tissue
  • Joint stiffness
  • More bony demineralization
65
Q

How does the chronic stage of CRPS present?

A
  • 1 year beyond onset
  • Permanent or lasts for years
  • Edema resolves
  • Dry, pale, cool , shiny
  • Joint stiffness progresses
  • Osteoporosis
66
Q

What is the Budapest criteria for CRPS?

A
  1. Continuing pain disproportionate to inciting event
  2. 1 symptoms in 3/4 cats
  3. 1 sign in 2+ cats
  4. No other better diagnosis.
67
Q

What are the symptoms for CRPS diagnosis?

A
  1. Sensory: hyperesthesia/allodynia
  2. Vasomotor: Temp asymmetry/skin color/color asymmetry
  3. Sudomotor/edema: Edema/sweating/sweating asymmetry
  4. Motor/trophic: Decreased ROM/dysfunction/trophic changes

1 from at least 3 cats!

68
Q

What are the signs for CRPS diagnosis?

A
  • Sensory: Hyperalgesia to pinprick, allodynia to light touch/deep somatic pressure/joint movement
  • Vasomotor: Evidence of temp asymmetry/color changes/asymmetry
  • Sudomotor/edema: Evidence of edema/ssweating changes/sweating asymmetry
  • Motor/trophic: Evidence of decreased ROM/dysfunction/trophic changes

1 from at least 2 cats!

69
Q

Where does demineralization typically begin?

A

Ends of bones progressing medially

70
Q

What does a positive bone scintigraphy look like and what is it for?

A
  • Assessing bone metabolism in pt with active resorption
  • Increased radiotracer uptake in areas of demineralization

CRPS

71
Q

What is the first-line tx for CRPS?

72
Q

What is the secondary therapy tx for CRPS?

A

Psychosocial and behavioral therapy

73
Q

How is pain managed in CRPS?

A
  • NSAIDs First
  • Neuropathic pain drugs (gabapentin, pregabalin, TCAs)
  • Lidocaine/Capsaicin topical
  • Bisphosphonates for abnormal bone scans
74
Q

When is pain management referral warranted in CRPS?

A
  • Progressive symptoms and signs of CRPS
  • Unsatisfactory response to initial tx
75
Q

What are the more interventional pain management options for CRPS?

A
  • Trigger point injection
  • Sympathetic nerve blocks
  • Spinal cord stimulation
  • Dorsal root ganglia stimulation
76
Q

What is the mainstay of patient education for CRPS?

A
  1. Explaining the long-term benefits of PT and OT
  2. Some degree of prolonged disability is common
  3. Recurrence is somewhat common, esp in younger pts
77
Q

Define Amyotrophic Lateral Sclerosis/ALS/Lou Gehrig’s Disease

A
  1. Fatal neurodegenetaive disease of both upper and lower motor neurons characterized by progressive loss of motor function
  2. Amyotrophic = atrophy of muscle fibers
  3. Lateral sclerosis = lateral columns of UMN get replaced by fibrous astrocytes/gliosis
78
Q

Describe the pathophysiology of ALS.

A
  1. Impaired astrocyte/microglia release toxins
  2. Impaired astrocytes increase glutamate => increased Ca2+ uptake
  3. Too much calcium = oxidative stress in mitochondria
  4. Mutant proteins worsen stress and turn into neurofilaments and cause neuronal death
79
Q

What is the MC form of ALS?

80
Q

What are the RFs for ALS?

A
  • Age, peaking at mid 70s
  • FMHx
  • Smoking
81
Q

What is the MC initial symptom of ALS?

A

Extremity dysfunction, like tripping, foot/wrist drops, or reduced dexterity.

Clumsiness

82
Q

How does bulbar dysfunction look like in ALS?

A
  • Slurred speech, hoarseness, quiet speech, Drooling
  • Aspiration/choking while eating
  • Emotional lability
  • Pseudobulbar affect syndrome: Involuntary laughing/crying
83
Q

How does ALS tend to progress symptom-wise?

A

Very slow and progressive, reflecting the UMN lesion area.

Will eventually cause LMN dysfunction as well.

84
Q

Where does generalized weakness begin in ALS?

A

Extremities, presenting as gait abnormalities.

85
Q

How is ALS diagnosed and worked up?

A
  • Need both UMN and LMN dysfunction present.
  • EMG will show both acute and chronic denervation and reinnervation
  • Everything else normal
86
Q

Describe Riluzole.

A
  • MOA: inhibition of glutamate release
  • Only proven med that extends life in ALS patients
  • BID dosing

ALS is characterized by excess glutamate.

87
Q

Describe Edaravone.

A
  • Free radical scavenger (aka antioxidant)
  • Slows functional deterioration, esp if used early on
  • IV and oral

ALS drug

88
Q

Describe sodium phenylbutyrate-taururusodiol.

A
  • MOA: Reduce stress response and ups the threshold for apoptosis (reduce neuronal cell death)
  • Slows rate of functional deterioriation
  • BID dosing

ALS drug

89
Q

Define Tofersen.

A
  • Only used for pts with a SOD1 gene mutation
  • MOA: Binds to SOD1 mRNA to prevent it from working.
  • Reduces disease progression

ALS drug

90
Q

What is the only ALS drug proven to extend patient life?

91
Q

What ALS drug is used for SOD1 gene mutation carriers?

92
Q

What are the drugs to manage spasticity in ALS?

A
  • Baclofen
  • Tizanidine
93
Q

What are the drugs/tx to manage Drooling in ALS?

I feel like she would ask a Q on this

A
  • Amitriptyline, scopolamine
  • Pseudoephedrine
  • Salivary gland irradiation
  • Botox B (risky)
94
Q

What do ALS patients generally require in terms of home support?

A
  • BiPAP
  • Invasive vent + tracheostomy
  • Speech therapy
  • Nutritionist
  • PEG tube
  • PT/OT with low impact exercise regimen
95
Q

What is the MCC of death in ALS?

A

Aspiration PNA

Median survival is only 3 years once weakness is seen. :(

96
Q

What should all ALS patients NOT DO?

97
Q

What is Toxic-Metabolic Encephalopathy?

A
  1. Acute condition resulting in global cerebral dysfunction without primary structural brain disease
  2. Dysfunction of ascending RAS, leading to impairment of arousal/awareness
98
Q

Who is toxic-metabolic encephalopathy MC seen in/RFs?

A
  • ICU pts
  • Older pts
  • Demented pts
99
Q

How does toxic-metabolic encephalopathy present?

A
  • Cognitive dysfunction (confusion to coma)
  • Seizures
  • Exaggerated physiologic tremors
  • Asterixis
  • Myoclonus
  • Babinski, brisk DTRs
100
Q

What is the MCC underlying etiology for toxic-metabolic encephalopathy?

101
Q

Why would we use MRI/CT in working up toxic-metabolic encephalopathy?

A

If focal deficits are present, we need to rule out SDH

102
Q

What diagnostic will confirm global cerebral dysfunction and differentiate toxic-metabolic encephalopathy from seizure?

103
Q

How is toxic-metabolic encephalopathy managed?

A
  • Treating the underlying cause (i.e. sepsis)
  • Removing any delirium drugs
104
Q

What does the prognosis look like for toxic-metabolic encephalopathy?

A
  • Reversible if treated promptly
  • Neurological improvement is slower
105
Q

What is neurofibromatosis? (NF)

A
  • Genetic disorder characterized by tumor formation on nerve tissue due to mutation/deletion of tumor suppressor genes
106
Q

How does NF Type 1 present?

A
  • Early on in childhood, usually by age 10
  • Strong family history
  • Cafe au lait spots anywhere (age 1-2)
  • Freckling of axilla/groin (age 3-5)
  • Lisch nodules on iris
Lisch
107
Q

How many cafe au lait spots suggest NF type 1?

A

More than 6

108
Q

What do neurofibromas look like?

A
  • Soft, peasized lesions
  • Nonpainful or tender usually
  • On/under skin
  • Increases the older you get
109
Q

What does a plexiform neurofibroma look like?

A

Tumor growth on nerve plexus itself.

110
Q

What happens to bones in NF type 1?

A
  • Scoliosis
  • Bowing of lower legs
111
Q

What ophthalmic changes occur in NF type 1?

A
  • Optic gliomas
  • Visual disturbances/proptosis
  • Compression of pituitary

Many hormonal issues can occur, often all occurring by age 3

112
Q

What learning disability is pretty common in NF type 1?

113
Q

What happens to BP, height, and head size in NF Type 1?

A
  • BP: Very high due to RAS or pheo
  • Short
  • Big head due to big brain
114
Q

How is NF Type 1 diagnosed?

A
  1. 6+ cafe au lait spots > 5mm prepubertal and >15mm postpubertal
  2. 2+ neurofibromas or 1 plexiform
  3. Axillary/inguinal freckling
  4. 2+ Lisch nodules
  5. Optic glioma
  6. Bone lesion with sphenoid dysplasia
  7. 1st degree relative meeting NIH criteria

2 of 7 NIH criteria

Cafe au lait spots
Axilla/inguinal freckling
Fibromas
Eyes; lisch nodules
Sphenoid dysplasia
Positive family hx
Optic
Tumor

115
Q

How is an optic glioma identified?

116
Q

How is NF Type 1 managed?

A
  1. Treat individual manifestations
  2. Annually assess all the stuff
  3. Genetic counseling
117
Q

When is surgery indicated for neurofibromas/plexiforms?

A
  • Neurofibromas: Pain, bleeding, functional interference, disfigurement
  • Plexiform: Debulking/partial resections, but residual functional deficits persist even w/ full resection.
118
Q

What are the dangerous tumors in NF Type 1 and their red flags?

A
  • Malignant peripheral nerve sheath tumors (MPNSTs) and neurosarcomas
  • Large plexiforms/externa peripheral lesions are the origins usually.
  • Significant/persistent pain within lesion
  • Soft to hard transition
  • Rapid growth
119
Q

What is the MCC of death in NF1?

A

Malignant tumor

120
Q

What is unique about NF2 from NF1 etiology/demographics?

A
  • Not genetic predisposed usually
  • Less cutaneous manifestations
  • Occurs later, more into teen/adult
121
Q

What is the MC lesion in NF2?

A

Benign, slow-growing tumor of the vestibulocochlear nerve

CN 8

AKA vestibular schwannomas or acoustic neuromas

122
Q

How does NF2 typically present?

A
  • Gradual hearing loss
  • Tinnitus
  • Ataxia
  • HA
123
Q

What are the other possible lesions in NF2 and the clinical findings?

A
  • Lesions: Meningiomas, schwannomas, gliomas, neurofibromas, cataracts
  • Numbness/weakess in extremities
  • Pain
  • Balance
  • Vision
124
Q

How is NF2 diagnosed?

A
  • Bilateral vestibular schwannomas
  • 1st degree relative + unilateral vestibular schwannoma or 2+ of the others.
  • 1 Unilateral vestibular schwannoma + 2 of the others
  • Multiple Meningiomas + 1 unilateral vestibular schwannomas or 2 of the others.
125
Q

What scan is good for screening acoustic neuromas? Spinal cord lesions?

A
  • MRI brain for acoustic neuroma screening
  • MRI spine for motor/sensory changes
126
Q

What 3 evaluations should be performed annually in NF2?

A
  1. Auditory
  2. Ophthalmic
  3. Neurologic
127
Q

What is schwannomatosis?

A
  • Multiple, non-cutaneous schwannomas without vestibular involvement
  • MC seen after 20
  • Usually acquired genetic defect postbirth
128
Q

How does schwannomatosis present?

A
  • Focal pain of neuropathic and nocipceptive nature
  • Focal numbness and weakness
  • Muscle atrophy
129
Q

What confirms a diagnosis of schwannomatosis?

A
  1. 2+ non-intradermal schwannomas, with 1 histiologically confirmed.
  2. No present of vestibular tumor via MRI
  3. 1 pathologically confirmed non-vestibular schwannoma + 1st degree relative with above criteria.
130
Q

What scans are used in schwannomatosis workup?

A
  • MRI brain to r/o CN 8 (vestibulocochlear nerve)
  • MRI spine to r/o spinal cord lesion
  • Focused peripheral nerve test
  • Whole body MRI to determine extent
131
Q

How is schwannomatosis typically treated?

A
  • Neuropathic pain management
  • NSAIDs/short-acting opiates
  • Add-on: amitriptyline, duloxetine, antiepileptics
  • Resection is last resort

Neuro (17 decks)

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