NEURO Flashcards

1
Q

1A. ↑ICP #1

Mech (5)?

A

MECH:

  • Mass effect (ie contusion, hematoma, tumor, edema)
  • Generalized brain swelling (ie ischemic state)
  • ↑venous pressure (ie ven obstruction, venous sinus thrombosis, HF)
  • ↑CSF production (ie SAH, Meningitis, choroid plexus tumor)
  • Obstruction to CSF flow / abs (ie Hydrocephalus, meningeal dz)
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2
Q

1B. ↑ICP #2

Mech of Pres (2), Pres (11)?

A
  • High CSF pressure
  • Neural tis compression

PRES:

  • Htn
  • Bradycardia
  • Lethargy
  • Missile Vomiting
  • Vertigo
  • Headache
  • Neck + Shoulder rigidity/pain
  • Facial weakness
  • Papilledema, visual field loss + diplopia
  • Hearing distortion + tinnitus
  • Anosmia
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3
Q

1C. ↓ICP #1

Mech (2, incl 4 sub-mech in 1st)?

A

MECH:

  • CSF leak
    - Trauma
    - Spontaneous dural tear
    - Post-CNS surgery / Lumbar Puncture
    - Post-Thoracotomy (leak into pleural space)
  • CSF fistula
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3
Q

1D. ↓ICP #2

Pres (5, incl 2 sub-divs of 1st)?

A

PRES: Symptoms range from mild to severe.

  • Headache
    - Frontal or Occipital (“throbbing”)
    - Postural (w/in 30s of assuming erect posture)
  • Neck stiffness
  • Photophobia
  • Dizziness
  • Nausea
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4
Q

1E. Communicating Hydrocephalus

Mech, Causes (3)?

A

MECH =↓CSF abs by arachnoid villi (->↑ICP).

CAUSES:

  • CONGENITAL IMPAIRMENT of arachnoid villi (ie low #, improper functioning)
  • Arachnoid villi
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5
Q

1F. Normal Pressure Hydrocephalus

Pres (3: “Wet, Wacky, Wobbly”)?

A

PRES:

  • Urinary incontinence
  • Dementia REVERSIBLE (due to cerebral cortex atrophy)
  • Ataxic gait
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6
Q

1G. Hydrocephalus Ex Vacuo

Pres?

A

PRES: ICP NORMAL

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7
Q

2A. Subfalcine Herniation

Comp?

A

COMP:

- Compression of ACA -> Infarction

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8
Q

2B. Uncal Herniation

Comp (3)?

A

COMP:

  • Compression of IPSI CN III -> CN III Palsy
  • Compression of IPSI PCA -> CONTRA Hemianopsia (w macular sparing)
  • Compression of CONTRA Crus Cerebri -> IPSI Paralysis
    - > ‘False Localization’ sign (dysfunction distant from expected anatomical location of pathology)
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9
Q

2C. Cerebellar Tonsil Herniation

Assoc, Comp?

A

ASSOC:
- Chiari II Malformation

COMP:
- Compression of Brainstem -> Coma + Death

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10
Q

3A. Cerebellar Pathologies

General Pres?

A

Disturbances of balance, gait + coordinated motor actions.

** NO paralysis. NO inability to start/stop movement. **

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11
Q

3B. LATERAL Cerebellar Lesion

General Pres?

A

Propensity to FALL towards INJURED / IPSILATERAL side.

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12
Q

3C. MEDIAL Cerebellar Lesion

General Pres (5)?

A
  • Bilateral motor deficits
  • Truncal Ataxia
  • Wide Gait
  • Head tilting
  • Nystagmus
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13
Q

3D. Cavernous Sinus Sx

CN affected, Etiologies (3), Pres (3)?

A

CN 6 (Abducens nerve) commonly affected.

ET:

  • Mass effect
  • Fistula
  • Thrombosis

PRES:

  • Opthalmoplegia
  • ↓Corneal sensation
  • ↓Maxillary sensation
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14
Q

3E. Kluver-Bucy Sx

Lesion Location, Pres (5 “Hypers” + 1)?

A

Bilateral Amygdala lesion.

PRES:
- Hypermetamorphosis: approaching of visual stimuli as if
they were new
- Hyperorality
- Hyperphagia
- Hypersexuality (with loss of sexual preference)
- Hyperdocility
- Anterograde Amnesia

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15
Q

3F. Horner Sx (sympathetic chain lesion)

Def’n, Assoc (2, incl 3 conditions that produce 1st),
Pres (“PAM”)?

A

Interruption of Sym nerve supply to eye.

ASSOC:

  • Lesion of SC ABOVE T1
    - Brown-Sequard Sx
    - Pancoast tumor
    - Syringomyelia (LATE)
  • Cluster Headaches (may induce)

PRES: * “PAM” *

  • Ptosis
  • Anhidrosis
  • Miosis
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16
Q

4A. “Peripheral neuropathy with sensorimotor dysfunction”

Causes?

A

CAUSES:

- Vit B12 def

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17
Q

4B. UMN Facial Lesion

Lesion Locations (2 options), Pres?

A
  • Motor Cortex (face area) OR
  • Connection b/w cortex + Facial nucleus.

PRES = CONTRALATERAL paralysis of LOWER face.

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18
Q

5A. Syringomyelia

Lesion Location, Assoc, Pres?

A

Damage to Ant White Commissure of Spinothalamic tract.
MC = C8 - T1

ASSOC:
- Arnold-Chiari II malformation

PRES: “Person with hand on burning hot element not feeling heat and not removing hand.”
- BILATERAL “cape-like” loss of temp + pain sensations
in upper extremities -> Flaccid Paralysis

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19
Q

5B. MS

Lesion Locations (3),
Mech (3 steps), HLA,
Pres (Epi + TRIAD + 5),
DX (2, incl 2 findings for each)?

A
  • Cerebral WM (cervical region) -> Hemiparesis
  • Brainstem -> Vertigo + Scanning Speech mimics drunkeness
  • ANS -> Incontinence (bladder + bowel)

MECH: Autoimmune infl
Auto-ab against myelin sheath ->Demyelination ->
Random + asymmetric lesions.

HLA-DR2.

PRES: “Young white woman” Relapsing / remitting course

  • Charcot’s Triad 1: “Intention tremor, Scanning speech, Nystagmus”
  • Vertigo
  • Hemiparesis
  • Bilateral Internuclear Opthalmoplegia
  • Blurred vision in 1 eye
  • Incontinence (bladder + bowel)
DX:
- FLAIR MRI: *Gold standard*
     -> GREY periventricular plaques (areas of oligo loss)
          \+ axon destruction
     -> Multiple WHITE matter lesions (areas of demyel)
- Lumbar Puncture: 
     ->↑IgG with IgG bands
     ->↑Lymphocytes
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20
Q

5C. Tabes Dorsalis

Lesion Locations (2 Tracts), Mech, Causes, 
Pres (General + 3), Signs (4)?
A
  • Dorsal Column tract nerves
  • Lateral Corticospinal tract nerves

MECH: Demyelination -> Subacute combined degeneration.

CAUSES:
- 3ry Syphilis / Neurosyphilis

PRES: BILATERAL signs BELOW lesion

  • Impaired sensation + proprioception
  • Sensory Ataxia
  • “Shooting / lightning” pain

SIGNS:

  • Romberg +
  • DTRs absent
  • Argyll Robertson pupils (reactive to accommodation but not to light)
  • Charcot’s joints
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21
Q

5D. Subacute Combined Degeneration

Lesion Locations (3: Column + 2 Tracts), Mech, Causes (2)?

A
  • Dorsal Columns
  • Lat Corticospinal Tracts
  • Spinocerebellar Tracts

MECH: Demyelination -> Subacute combined degeneration.

CAUSES:

  • Vit B12 or Vit E deficiency
  • AIDS
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22
Q

5E. Poliomyelitis

Causative Bug, Lesion Location, Path, Pres (5), DX (2)?

A

Polio virus (fecal-oral transmission).

Ant Motor Horn. (Virus repl in oropharynx + S.I before reaching CNS)

PATH: LMN destruction.

PRES:

  • LMN signs
  • Fever + malaise
  • Headache
  • Sore throat
  • Nausea + ab pain

DX:

  • Virus recovered from throat or stool
  • CSF: Lymphocytes present
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23
Q

5F. Werdnig-Hoffman Dz (aka Infantile Spinal Muscular Atrophy)

Lesion Location, Inher, Path, Pres (2), Prog?

A

Ant Motor Horn.

AR.

PATH: LMN destruction.

PRES:

  • “Floppy baby” at birth
  • Tongue fasciculations

PROG: Death ~ 7 months, however some live for a few years.

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24
Q

5G. ALS / Lou Gehrig’s Dz

Genetics, Path, Pres (Epi + 2), Prog, RX?

A

Mutation / defect in Superoxide Dismutase.
(-> Free Radical injury to neurons)

PATH: Free Radical injury to neurons

PRES: Arises in middle-age

  • Early sign = atrophy + weakness of HANDS
  • Both LMN + UMN signs

PROG: Progressive and fatal

RX:
- Riluzole:↓presynaptic Glutamate release. Modestly lengthens survival.

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25
Q

5H. Brown-Sequard Sx

Def’n, Pres (6: 2 LEVEL of lesion + 3 BELOW lesion + 1)?

A

‘Hemisection’ injury of SC = injury of 1/2 SC.

PRES:

  • AT LEVEL of lesion:
    - IPSI loss of all sensation
    - LMN signs
  • BELOW lesion:
    - CONTRALAT pain + temp loss (ST tract)
    - IPSI proprioception, tactile + vibration loss (Dorsal Column)
    - IPSI UMN signs (CS tract)
  • Horner Sx if lesion above T1
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26
Q

6A. Epidural Hematoma
Arterial = High P

Anatomy, Etiology, Mech,
Pres (CLUE + 2), Appearance on CT (2)?

A

Rupture of Middle Meningeal art due to fracture of Temporal bone.

ET = Trauma

MECH: High P = rapid expansion = Transtentorial Herniation
(Dura mater SEVERED from skull).

PRES = “Lucid interval” followed by “progressive↓in consciousness.”
** Death within 6 hrs **

CT:

  • “Lens / “biconvex disk”-shaped hematoma- b/w suture pts / not crossing suture lines.
  • CAN cross falx + tentorium
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27
Q

6B. Subdural Hematoma
Venous = Low P

Anatomy, Etiology, Mech,
Pres (4 Epi + 2 CLUES),
Appearance on CT (3)?

A

Rupture of Bridging Veins.

ET = Deceleration Injuries: Brain crashes into skull.

MECH: Low P = Slow bleeding.
Gyri preserved since P distributed equally

PRES: MC in elderly, patients on Anticoagulants, Alcoholics, Shaken Babies (all have smaller and more fragile bridging veins).

  • “Gradual onset / Progressive s + s”
  • “Fluctuating L.O.C.”

CT:

  • “Crescent-shaped” hematoma- crosses suture lines.
  • “Midline shift”
  • CANNOT cross falx + tentorium
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28
Q

6C. SAH

Anatomy, Etiology (2), Mech,
Pres (CLUE), Micro Finding,
Comp (2)?

A

Aneurysm in Circle of Willis. Spreads throughout SA space.

ET: ** NO Trauma **

  • Arterial / Venous Malformation
  • Berry Aneurysm rupture

MECH =↑ICP

PRES = “Worst headache of my life” (sudden headache with nuchal rigidity)
Rapid time course

FINDING = Xanthochromea (RBCs in lumbar puncture with yellow on top).

COMP: 2-3 days afterward, risk of:

  • Vasospasm (due to bl breakdown)
  • Rebleed
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29
Q

6D. Intraparenchymal / Intracerebral Hemorrhage (ICH)

MC Lesion Locations (2), Causes (4), Mech,
Pres (Epi + 1)?

A

MC in Basal Ganglia + Internal Capsule.

CAUSES:

    • Systemic Htn
  • Amyloid angiopathy
  • Vasculitis
  • Neoplasm

MECH = Microaneurysm rupture

PRES: MC in Hypertensive patients
- Neuro deficits

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30
Q

6E. Berry Aneurysm

RF (4), Seen In (3), Comp?

A

RF:

  • Advanced age
  • Black
  • Smokers
  • Htn

SEEN IN:

  • ADPKD
  • Ehlers-Danlos Sx
  • Marfan’s Sx

COMP: Rupture -> SAH or Hem Stroke

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31
Q

6F. Cerebrovascular Disease due to ISCHEMIA

Most Vulnerable Lesion Locations (4)?

A
    • Hippocampus
  • Neocortex
  • Cerebellum
  • Watershed areas
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32
Q

6G. Ischemic Stroke

RX (incl 2 Indications)?

A

RX:

  • tPA
    * If NO risk of hem
    * Within 3 - 4.5 hrs of onset
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33
Q

6H. Lacunar Ischemic Stroke

Lesion Locations (2), Mech (3 steps, incl vessels involved), 
Imaging, Comp?
A
  • Thalamus -> Pure SENSORY Stroke
  • Internal Capsule -> Pure MOTOR Stroke

MECH: Lenticulostriate vessels:
Htn -> Hyaline Arteriosclerosis -> Infarction (small cystic areas).

IMAGING: Small cystic areas of infarction

COMP:
- Hemibalism

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34
Q

6I. Thrombotic Ischemic Stroke

Mech, Imaging?

A

MECH: Clot formation, usually over atherosclerotic plaque,
at site of infarction.

IMAGING: PALE infarct (ie non-hem) at periphery of cortex

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35
Q

6J. Hypoxic Ishemic Stroke

Lesion Location, Mech, Assoc / Cause?

A

MC affects Watershed areas.

MECH = Hypoperfusion / Hypoxemia

ASSOC:
- Common during CV surgeries

36
Q

6K. Damage to Watershed Zones

Def’n of Watershed Zones, Damage Seen In (2), Pres (2)?

A

Watershed Zones = areas lying B/W ANT + Middle Cerebral art and B/W POST + Middle Cerebral art.

SEEN IN:

  • Severe Hypotension
  • Hypoxic Ischemic Stroke

PRES:

  • Upper Arm / Upper Leg weakness
  • Defects in higher-order visual processing
37
Q

6L. T.I.A

Def’n, Pres?

A

FOCAL ischemia lasting

PRES: Brief and reversible episode of focal neuro dysfunction.

38
Q

6M. Global Cerebral Ischemia

Causes (4), Pres (Mild vs Moderate vs Severe)?

A

CAUSES:

  • ↓perfusion (ie Atherosclerosis)
  • Acute ischemia /↓in bl flow (ie Cardiogenic Shock)
  • Chronic hypoxia (ie Anemia)
  • Repeated hypoglycemic episodes (ie Insulinoma)

PRES: Based on magnitude + duration of insult.

  • MILD -> Transient confusion with prompt recovery
  • MODERATE (ie in Watershed Areas)
  • SEVERE -> Vegetative state
39
Q

6N. Hemorrhagic Stroke (intracerebral bleeding)

MC Lesion Location, Causes (5)?

A

MC in Basal Ganglia.

CAUSES:

  • Htn
  • Anticoagulation
  • Cancer (abnormal vessels / vessel fragility)
  • Aneurysm rupture
  • Ischemic Stroke followed by reperfusion (vessel fragility)
40
Q

7A. Guillain-Barre Sx (acute autoimmune infl demyelinating polyneuropathy)

Pres (2)?

A

PRES:

  • Rapidly progressive leg weakness that ascends
  • Following Upper Resp or GI infection (ie c jejuni)
41
Q

7B. Acute Infl Demyelinating Polyradiculopathy
MC variant of Guillain-Barre Sx

Mech (2 steps), Assoc, Etiologies (3),
Pres (2), CSF Findings,
RX (3)?

A

MECH:
Autoimmune destruction of Schwann cells + peripheral myelin ->
Demyelination and Infl of peripheral nerves + motor fibers.

ASSOC:
- C jejuni + CMV infections

ET: (etiologies for autoimmune attack of peripheral myelin)

  • Molecular mimicry
  • Inoculations
  • Stress

PRES:

  • “Symmetric ASCENDING muscle weakness / paralysis beginning in lower extremities”
  • Papilledema (due to infl /↑in plasma proteins)

FINDINGS:
- CSF: ‘Albuminocytologic Dissociation’ =↑CSF protein with normal cell count

RX:

  • Resp support
  • Plasmapheresis
  • IV Ig
42
Q

7C. Charcot-Marie Tooth Disease
(HMSN: Hereditary Motor + Sensory Neuropathy)

Lesion Locations, Def’n, Inher, Pres (2)?

A
  • Myelin sheath
  • Peripheral nerves

Group of hereditary progressive nerve disorders.
Related to defective production of PROTEINS involved in
myelin sheath and/or peripheral nerves.

AD (typically).

PRES:

  • Scoliosis
  • Foot deformities: flat or high ARCHES
43
Q

7D. Progressive Multifocal Leukoencephalopathy (PML)

Lesion Location (Cells), Def'n + Causative Bug, RF, 
Pres (Epi + General), Prognosis?
A

Oligodendrocytes.

DESTRUCTION of Oligo by JC virus -> Demyelination of CNS.

RF:
- Natalizumab

PRES: 2-4% of AIDS patients (immunosup -> reactivation of latent viral infection)
- RAPIDLY prog neuro signs

PROG: Usually fatal

43
Q

7E. Acute Disseminated (Post-infectious/-immunization) Encephalomyelitis

Etiologies (2 Categories), Def’n?

A

Demyelination + PERIVENULAR Infl (multifocal).

ET:

  • Measles or VZV infection
  • Rabies or Smallpox vaccination
44
Q

7F. Adrenoleukodystrophy

Lesion Locations (3), Inher, Mech (3 steps), 
Pres (Epi + General)?
A
  • Nervous System
  • Adrenal gland
  • Testes

X-Linked.

MECH:
Impaired addition of Coenzyme A to Long-Chain F.A ->
Buildup of Long-Chain F.A ->
Damage to NS, Adrenal gland, Testes.

PRES: MC in males. Progressive disease that can lead to adrenal crisis and coma / death.

45
Q

7G. Krabbe Disease

Lesion Location (Cells), Inher, Mech (3 steps), 
Pres (3), Micro Finding?
A

Macrophages.

AR.

MECH: Destruction of CNS Myelin
Def of Galactocerebrosidase ->
Buildup of Galactocerebroside + Psychosine in Macrophages ->
DESTRUCTION of myelin sheath (CNS).

PRES:

  • Devel delay
  • Optic atrophy
  • Peripheral neuropathy

FINDING:
- Globoid cells

46
Q

7H. Metachromatic Leukodystrophy

Lesion Location (Cells), Inher, Mech (5 steps), Pres (2)?

A

Oligodendrocytes (lysosomes of).

AR.

MECH: *Destruction of Oligodendrocytes*
Deficiency of arylsulfatase A -> 
Buildup of Sulfatides ->
Impaired PRODUCTION of myelin sheath ->
Myelin can't be degraded -> Myelin accum in Oligo lysosomes ->
Central + Peripheral demyelination.

PRES:

  • Ataxia
  • Dementia
47
Q

7I. Central Pontine Myelinosis

Lesion Location, Causes, Pres (Epi + 1)?

A

Pons (FOCAL demyelination).

CAUSES:
- RAPID IV correction of Hyponatremia in severely malnourished patients

PRES: Severely malnourished patient
- “Locked In” Sx: acute bilateral paralysis

48
Q

8A. Headache

Locations Affected (3), Conditions Seen In (5)?

A
  • Pain due to irritation of these structures*
  • Dura mater
  • Cranial nerves
  • Extracranial structures

SEEN IN:

  • Arteritis
  • Neoplasia
  • Hydrocephalus
  • Meningitis
  • SAH
49
Q

8B. Cluster Headache

Duration, Pres (2)?

A

15 min - 3 hr. Repetitive

PRES: Repetitive brief headaches

  • Excrutiating PERIORBITAL pain with lacrimation + rhinorrhea
  • (May induce Horner’s Sx)
50
Q

8C. Tension Headache

Duration?

A

4-6 hrs. Constant / Steady

50
Q

8D. Migraine

Locations Affected (3), Etiology, Mech (3 substances released),
Duration, Pres (3)?
A
  • Meninges
  • CN 5
  • Bl vessels

ET: Neurovascular disorder

MECH: Substances released:

  • CGRP (Calcitonin Gene-Related Peptide)
  • Substance P
  • Vasoactive peptides

4-72 hrs.

PRES: Pulsating pain

  • May have aura
  • Nausea
  • Photophobia / Phonophobia
52
Q

8E. Peripheral Vertigo

Lesion Location, Etiologies (3),
‘Positional Testing’ Findings (Class of Nystagmus + 2 Chars)?

A

Inner Ear.

ET: Inner Ear

  • Meniere’s Dz
  • Semicircular Canal debris
  • Vestibular NERVE infection

PT FINDINGS: Unidirectional Nystagmus

  • DELAY b/w onset of nystagmus + vertigo sensation
  • Nystagmus may not last
52
Q

8F. Central Vertigo

Lesion Locations (2 options), Etiologies (2),
‘Positional Testing’ Findings (2 Class of Nystagmus),
Pres (2 other)?

A
  • Brainstem
  • Cerebellum

ET: Brainstem or Cerebellum

  • Post Fossa tumor
  • Stroke affecting Vestibular NUCLEI
    • THINK: Nuclei are CENTRAL*

PT FINDINGS:

  • Bidirectional Nystagmus
  • Vertical Nystagmus

PRES:

  • Diplopia
  • Dysmetria
54
Q

9A. Dementia

Locations Earliest / Most Severely Affected (2), Causes (5)?

A
  • Hippocampus
  • Temporal lobe

CAUSES:

  • Alzheimer’s (MCC of Dementia in elderly)
  • Vit B12 def
  • HIV
  • Syphilis
  • Wilson’s Dz
55
Q

9B. Alzheimer Disease (AD)

RF, Pres (General + 3), Labs (Neurotransmitter Level),
Micro Findings (2), Imaging,
Prognosis, Comp?

A

RF:
- Down Sx

PRES: Insidious onset

  • Progressive memory impairment + disorientation
  • Aphasia + Apraxia
  • Mood alterations + Personality changes

LABS: Ach LOW

FINDINGS:

  • Neuritic / Senile Plaques: EXTRACEL b-amyloid core entangled with neuritic processes
  • Neurofibrillary Tangles: INTRACEL hyperphosphorylated tau protein
  • > insoluble
  • ** Tangles correlate with degree of dementia ***

IMAGING: Widespread Cortical atrophy

PROG: Progression to bed-ridden state + muteness -> Death.

COMP:
- Hydrocephalus Ex Vacuo

56
Q

9C. FAMILIAL Alzheimer’s Disease

Inher, Genetics (Early Onset vs Late Onset)?

A

AD.

  • Early Onset: APP (21)
  • Late Onset: ApoE4 (19) [ApoE2 is protective!]
  • APP = Amyloid Precursor Protein. APP -> b-amyloid.
  • Apo = Apolipoprotein gene
57
Q

9D. Pick’s Disease (Frontotemporal Dementia)

Pres (4), Micro Finding, Imaging, Comp?

A

PRES:

  • Personality + Behavioral changes (EARLY)
  • Progressive Dementia (LATER)
  • Aphasia
  • Parkinsonian aspects

FINDING:
- Pick bodies: INTRACEL round aggregates of tau protein

IMAGING: Frontal + Temporal atrophy

COMP:
- Hydrocephalus Ex Vacuo

58
Q

9E. Lewy Body Dementia

Pres (2), Micro Finding?

A

PRES:

  • Dementia + Hallucinations
  • Parkinsonian aspects

FINDING:
- Lewy Bodies: inclusions of a-synuclein (due to a-synuclein defect)

*a-synuclein = abundant protein in brain. Found mainly in presynaptic terminals.

59
Q

9G. Creutzfeldt-Jakob Disease (CJD)

Inher, Pres (Epi + 1), Micro Finding?

A

85% sporadic, 15% hereditary.

PRES: Young Adults
- RAPIDLY PROG dementia + myoclonus ->
Death within 6-12 months

FINDING:
- Spongy Degeneration: INTRACEL vacuoles

60
Q

9F. Prion Diseases

3 Subtypes, Def’n / Mech, Pres?

A
  • Sporadic (C-J dz)
  • Inherited (G-S-S sx)
  • Acquired (Kuru)

Conversion of a normal, usually a-helical prion protein (PrPc) ->
b-pleated protein (PrpSc).
* PrpSc resists protease degradation
* PrpSc is transmissible

PRES: Due to accum of PrpSc -> Spongiform Encephalopathy
Dementia + Ataxia -> Death

61
Q

9H. Variant CJD (Mad Cow Disease)

Etiology?

A

ET = Exposure to bovine spongiform encephalopathy

63
Q

10B. Huntington Disease

Lesion Location, Inher, Molec Genetics, Mech,
Pres (Onset + 6: “AACDDP”), Labs (2 Neurotransmitter Levels)?

A

Striatal Nuclei: GABAergic neurons in Caudate Nucleus (Basal Ganglia).

AD.

CAG repeat expansion in huntingtin gene (chr 4) ->
Anticipation + Genomic Imprinting.
(‘Anticipation’ due to repeat expansion during Spermatogenesis)

MECH:
Degen of Striatal Nuclei (main inhibitors of mov’t) -> Hyperkinetic.

PRES: Onset = 20-40.

  • Aggression
  • Athetosis
  • Chorea
  • Dementia
  • Depression
  • Personality changes

LABS:

  • Ach↓
  • GABA ↓
63
Q

10A. Parkinson Disease

Lesion Location, Mech (2, incl NT levels),
Pres (“TRAP” + 4), Labs (2), Micro Findings (2)?

A

Substantia Nigra (Striatum of Basal Ganglia).

MECH:

  • Loss of dopaminergic neurons from Substantia Nigra
    • > Dopamine depletion.*↓Dopamine *
  • Excess Cholinergic activity. * ↑Ach *

PRES:

  • Tremor: Resting “pill rolling” tremor (disappears with movement)
  • Rigidity: “Cogwheel rigidity” in extremities
  • Akinesia / Bradykinesia
  • Postural instability (stooped)
  • Shuffling gait
  • Expressionless / masked facies
  • Dementia (late manifestation)
  • Depression

LABS:

  • Ach ↑
  • Dopamine ↓

FINDINGS:

  • ‘Lewy Bodies’ in affected neurons
  • Neuron depigmentation
64
Q

11B. Tuberous Sclerosis

Def’n, Inher, Pres (“HAMARTOMAS”)?

A

Benign tumors in Brain, Skin, Eyes, Heart + Lungs.

AD.

PRES: * “HAMARTOMAS” *

  • Hamartomas (in CNS + Skin)
  • Adenoma Sebaceum
  • Mitral Regurg
  • ‘Ash-Leaf spots’
  • Rhabdomyoma (Cardiac)
  • (Tuberous Sclerosis)
  • (O)
  • MR
  • Angiomyolipoma (Renal)
  • Seizures
65
Q

11A. Sturge-Weber Sx

Lesion Locations (2), Genetics (General), Def'n, 
Pres (3 lesion types), Comp (4)?
A
  • Leptomeninges
  • Skin of Face

Congenital disorder. Occurs sporadically.

ANGIOMAS that involve the leptomeninges + skin of face.

PRES:

  • Leptomeningeal angiomas: IPSIlat
  • Pheochromocytomas
  • ‘Port-Wine Stains’: V1 distr of trigeminal nerve

COMP:

  • MR
  • Seizures
  • Hemiparesis
  • Glaucoma
66
Q

11C. Neurofibromatosis Type 1 (Von Recklinghausen’s Dz)

Def’n + Lesion Locations (4), Inher, Genetics,
Pres (5: 2 Skin, 2 Eyes, 1 general)?

A

Neurofibromas (noncancerous) in:

  • Brain
  • Eye
  • PNS
  • Skin (on or just underneath)

AD.

Mutated NF1 gene on chr 17. 100% penetrant, variable expressivity.

PRES:

  • ‘Cafe-au-Lait’ spots
  • Neurofibromas in skin
  • ‘Lisch nodules’ (pigmented hamartomas in iris)
  • Optic gliomas
  • Pheochromocytomas
67
Q

11D. Neurofibromatosis Type 2

Pres?

A

PRES:

- Bilateral Schwannoma

69
Q

11E. Neurofibromatosis with severe Diastolic Htn

A

Pheochromocytoma

70
Q

11F. Von Hippel-Lindau Disease

Def’n, Inher, Genetics, Pres (4 tumor types)?

A

Benign cysts + tumors in multiple organ systems with
** POTENTIAL FOR MALIGNANT CHANGE **
(eg Hemangioblastoma).

AD.

Mutated VHL (tumor suppressor) gene on chr 3.

PRES:

  • Cavernous Hemangiomas in organs, skin + mucosa
  • Hemangioblastomas in Brainstem, Cerebellum + Retina
  • Bilateral Renal Cell Carcinoma
  • Pheochromocytomas
71
Q

12A. Glioblastoma Multiforme (Grade 4 Astrocytoma)

Cellular Origin + Lesion Location,
Pres, Micro Findings (2), Appearance on Imaging (2),
Prognosis?

A

Astrocytes (GFAP +).
Found in Cerebral Hemispheres.
Can cross Corpus Callosum => “Butterfly glioma”

PRES:
- Feeling of head fullness + headaches when standing

FINDINGS: (Brain Biopsy)

  • “Pseudopalisading” pleomorphic tumor cells
  • Tumor cells border central areas of hem + necrosis

IMAGING: (MRI)

  • Lobulated mass
  • HETEROGENEOUSLY-enhancing (enhances with contrast) lesion

PROG: Grave.

72
Q

12B. Meningiomas

Cellular Origin, Lesion Locations (2),
Micro Finding, Appearance on Imaging (2),
Prognosis?

A

Arachnoid cells (external to brain).

  • Convexities of hemispheres
  • Parasagittal region

FINDINGS:
- Psammoma bodies

IMAGING:

  • Round mass attached to Dura
  • UNIFORMLY-enhancing lesion

PROG: Resectable!

73
Q

12C. Schwannoma

Cellular Origin, Lesion Locations (2), Assoc, Prog?

A

Schwann cells.

  • Cerebello-Pontine angle
  • CN 8 (if localized here = ‘Acoustic Schwannoma’)

ASSOC:
- NF Type II: Bilateral Schwannoma

PROG: Resectable!

74
Q

12D. Oligodendroglioma

Cellular Origin, Lesion Location,
Pres / Chars (3), Micro Findings (2)?

A

Oligodendrocytes (often calcified in oligodendroglioma).

MC in Frontal lobes.

PRES / CHARS:

  • Relatively rare
  • Slow-growing
  • Malignant

FINDINGS:

  • Oligodendrocytes = “fried egg” cells
  • “Chicken wire” capillary pattern
75
Q

12E. Pituitary Adenoma (Adult) / Craniopharyngioma (Child)

Embryological Origin, Pres (2), Micro Finding, Prognosis?

A

Rathke’s Pouch.

PRES:

  • Hypo- or Hyperpituitarism
  • Bitemporal Hemianopia (due to pressure on optic chiasm)

FINDINGS:
- Calcification common (b/c Rathke’s Pouch is very tooth-like)

PROG: (Craniopharyngioma)
- Tends to recur after resection

76
Q

12F. Pilocytic (Low-Grade) Astrocytoma

Cellular Origin + Lesion Location,
Micro Finding, Appearance on Imaging,
Prognosis?

A

Astrocytes (GFAP +).

Cerebellum. May be SUPRAtentorial

FINDINGS:
- ‘Rosenthal fibers’

IMAGING:
- “Cystic lesion” with “mural nodule”

PROG: Benign = good prognosis!

76
Q

12G. Medulloblastoma (a PNET: Primitive Neuroectodermal Tumor)

Lesion Location, Chars (4), Micro Findings (2), Comp, Prog?

Anatomy (2), Microscopic findings (2), Radiosensitivity, Prognosis?

A

Cerebellum.

CHARS:

  • Radiosensitive
  • Rapidly-growing
  • Highly malignant
  • Spreads via CSF

FINDINGS:

  • Rosettes: H-W or Perivascular Pseudo-
  • “Small blue cells”

COMP:
- Can compress 4th Ventricle -> Hydrocephalus

PROG: Poor

77
Q

12H. Ependymoma

Lesion Location, Micro Findings (2), Comp, Prognosis?

A

4th Ventricle.

FINDINGS:

  • Rosettes: Perivascular Pseudo-
  • ROD-shaped blepharoblasts (basal ciliary bodies) near nucleus

COMP:
- Hydrocephalus

PROG: Poor

78
Q

12I. Hemangioblastoma

Lesion Location, Assoc, Pres, Micro Findings (2)?

A

Cerebellum.

ASSOC:
- Von Hippel-Lindau Sx (when found with Retinal Angioma)

PRES:
- Polycythemia (tumor can produce EPO)

FINDINGS:

  • ‘Foamy Cells’
  • High vascularity
79
Q

12J. 1ry CNS Lymphoma

CB Assoc, Pres (Topography), DDX?

A

EBV.

PRES: Focal OR Multiple

DDX: Differentiate from Toxoplasmosis

80
Q

13A. CN 3 Palsy

Pres (CLUE + 1), Seen In (3)?

A

PRES:

  • “Down and out” gaze
  • Dilated pupil

SEEN IN:

  • P Comm Stroke
  • Epidural Hematoma
  • Uncal Herniation
81
Q

13B. Facial Nerve (CN 7) Palsy

Lesion Location, Mech, Assoc (5), Pres, Course, RX?

A

CN 7 LMN lesion = lesion to LOWER division of Facial nucleus.

MECH:
Complete destruction of Facial nucleus itself or its efferent fibres.

ASSOC:

  • Herpes Simplex or Zoster (less common)
  • Lyme Disease
  • Sarcoidosis
  • Diabetes
  • Tumors

PRES: IPSILATERAL facial paralysis
- “UNILATERAL facial drooping” -> “drooping smile”
-> “inability to close eye on
affected side”

COURSE: Gradual recovery in most cases.

RX = Corticosteroids

82
Q

14A. Niemann-Pick Disease

Mech, Pres (Epi + CLUE + 3)?

A
MECH:
Sphingomyelinase def (genetic) -> Sphingomyelin accumulation.

PRES: Infant

  • “Cherry-red spots on macula”
  • Failure to thrive
  • Neurodegeneration
  • Hepatosplenomegaly
83
Q

14B. Wernicke Encephalopathy

Lesion Location, Etiology, Pres (Epi + 3), Comp?

** Reversible **

A

Atrophy of Mamillary Bodies.

ET = Thiamine deficiency (ie Alcoholics)

PRES: Alcoholics

  • Confusion
  • Gait Ataxia
  • Ocular palsies

COMP (if thiamine def not corrected in time) = Korsakoff Sx

85
Q

14C. Korsakoff Sx

Lesion Locations (2), Precursor, Pres (CLUE + 1)?

** NOT reversible **

A
  • Mamillary Bodies
  • Dorsomedial Nuclei (Hypothalamus).

PRECURSOR = Wernicke Encephalopathy / uncorrected Thiamine def

PRES:

  • “Confabulation”
  • Antero- + Retrograde Amnesia
86
Q

14D. Steven-Johnson Sx

Drugs Causing (3), Pres (3 steps)?

A

(Epilepsy Drugs)

  • Lamotrigine
  • Ethosuximide
  • Carbamazepine

PRES:
Prodrome of fever + malaise ->
Rapid onset of erythematous/purpuric macules (ocular, oral,genital) ->
Necrosis + sloughing of macules.

88
Q

15A. Toxoplasmosis

Pres, Imaging?

A

PRES: Brain abscess in HIV

IMAGING: “Ring-enhancing” brain lesions on CT / MRI

89
Q

15B. Congenital Toxoplasmosis

Pres (Triad)?

A

PRES:

  1. Chorioretinitis
  2. Hydrocephalus
  3. Intracranial calcifications