Neuro Part 6

Front 1

demyelinating diz's ~~ destruction of:

Back 1

myelin OR oligodendrocytes

- axons ARE preserved, though conduction is impaired

Front 2

leukodystrophy =

(general definition)

Back 2

*inherited* mut. in enzymes necessary for *production* OR *maintenance* of myelin

Front 3

2 features of leukodystrophy (general):

Back 3

1. impaired myelin BOTH centrally AND peripherally

2. ~~ infancy/childhood

Front 4

7 leukodystophy dz's:

Back 4

1. Metachromatic Leukodystrophy (MLD) - AR

2. Krabbe Dz - AR

3. Adrenoleukodystrophy (ALD)

4. MS

5. SSPE

6. PML

7. CPM

Front 5

pathophys of MLD - deficiency in:

Back 5

deficiency in arylsulfatase A =>

=> accum. of cerebroside (galactosyl sulfatide)

=> **can't degrade myelin**

=> myelin accumulates in lysosomes of brain and peripheral nerves

- fatal in infancy

Front 6

pathophys of Krabbe - deficiency in:

(aka globoid cell dz)

Back 6

deficiency in B-galactosidase

=> accumulation of galactosylceramide in macrophages (called globoid cells)

Front 7

features of Krabbe dz:

(3)

Back 7

1. rapidly-progressive

2. fatal in infancy

3. symp's widespread, depending on demyelination

Front 8

pathophys of Adrenoleukodystrophy (ALD):

(X-linked)

Back 8

impaired addition of CoA to long-chain FA's

=> accum. of said (toxic) FA's

=> ***bilateral, symmetrical demyelination of Parietal and Occipital lobes***

***also degrades adrenal glands***

Front 9

what's the most common CNS dz in YA's?

Back 9

MS

women > men

Front 10

MS =

Back 10

AI destruction of *CNS* myelin and oligodendrocytes

Front 11

MS has two classes of trigger, genetic and environmental; genetic trigger is assoc. with:

Back 11

HLA-DR2

Front 12

environmental trigger of MS =

Back 12

temperate climates

(b/w equator and pole)

Front 13

symps of MS depend on which axons are affected;

if optic nerve, =>

BS, =>

MLF =>

cerebral white matter, =>

SC, =>

ANS, =>

Back 13

1. blurred vision

2. vertigo, scanning speech

3. internuclear ophthalmoplegia

4. hemiparesis, loss of sensation (if cerebral white matter)

5. (if SC) motor/sensory deficits in LE's

6. (if ANS) bowel, bladder, sexual dysfunction

Front 14

scanning speech =

Back 14

drunk-like speech that occurs when BS damaged (as in MS)

Front 15

internuclear ophthalmoplegia = problem with MLF system; MLF system =

Back 15

looking one way causes CN6 to tell the opposite CN3 to turn make the Medial rectus

- but if MLF is damaged, signal doesn't get through

=> opposite eye won't turn Medially

Front 16

dx of MS:

Back 16

MRI, which shows plaques

Front 17

LP of MS shows:

(3)

Back 17

1. inc. lymphocytes

2. inc. Ig with *oligoclonal bands*

3. myelin basic prot

Front 18

gross of MS:

Back 18

gray areas WITHIN white matter

Front 19

treatment of MS:

(2)

Back 19

1. high-dose steroids during acute attack

2. otherwise, interferon-B to slow progression

Front 20

SSPE = Subacute Sclerosing Panencephalitis =

Back 20

progressive, debilitating encephalitis that always ends in death

- cognitive and behavioral decline over moths/yrs

("pan" indicates both gray AND white matter is affected)

Front 21

SSPE is caused by:

Back 21

measles virus

- initial inf. in infancy, neurologic signs YEARS later

Front 22

SSPE histo:

Back 22

viral *inclusions* w/in gray and white matter

Front 23

PML = Progressive Multifocal Leukoencephalopathy =

Back 23

JC virus inf of oligodendrocytes

- **imm-comp ONLY** => reactivation of latent virus

=> *rapidly-progressing neurological signs leading to death*

Front 24

CPM = Central Pontine Myelinolysis =

Back 24

demyelination of center of pons

Front 25

CPM is caused by:

Back 25

**rapid IV correction of hyponatremia**

- occurs in severely-malnourished pts in hospital, esp. alcoholics

Front 26

CPM presents as:

Back 26

**Locked-In Syndrome**

- only eyes can move, up and down, while pt is fully aware

Front 27

50% of CNS tumors are:

Back 27

mets

Front 28

3 most common mets to brain:

Back 28

Lung, Breast, Kidney

- present as multiple, well-circumscribed lesions at the gray-white junctions

Front 29

3 CNS tumor of ADULTS:

Back 29

1. GBM

2. Oligodendroglioma

3. Meningioma

Front 30

Glioblastoma = GBM =

Back 30

malignant, high-grade tumor (grows fast) of **astrocytes**

- m.c. malignant CNS tumor of adults

Front 31

2 features of GBM:

Back 31

1. **crosses midline (butterfly)**

2. GFAP is present within tumor

Front 32

histo of GBM:

(3)

Back 32

*pseudopallisades*


1. large amount of necrosis

2. nl/healthy cells seems to form a barrier against necrosis

3. endothelial cells proliferate

Front 33

m.c. benign tumor of CNS =

Back 33

Meningioma

Front 34

4 features of Meningioma:

Back 34

1. females > males (tumor expresses EST r's)

2. round mass attached to dura on imaging

3. compression => (pot) sez's

4. **really easy to remove**

Front 35

histo of Meningioma:

(2)

Back 35

1. whorled appearance of cells
(due to poorly-defined border)

2. psammoma bodies within tumor
(calcified laminations)

Front 36

Schwannoma involves cranial OR spinal nerves; cranially, manifests as:

Back 36

growth near CN 8

=> **loss of hearing or tinnitus**

Front 37

(Schwannomas of the 8th CN are seen *bilaterally* in:

Back 37

NF2

Front 38

3 features of Oligodendroglioma:

Back 38

1. => calcified tumor in the WHITE matter

2. usually involves *frontal lobe*

3. => sez's

Front 39

**histo of Oligodendroglioma:**

(2)

Back 39

1. fried-egg appearance

2. "chicken-wire" pattern of branching vessels

Front 40

4 CNS tumor of CHILDREN:

Back 40

1. Pilocytic Astrocytoma

2. Ependymoma

3. Medulloblastoma

4. Craniopharyngioma

Front 41

3 features of Pilocytic Astrocytoma

Back 41

1. usually arises in *cerebellum*

2. GFAP + (since it's of glial origin)

3. slow-growing

Front 42

imaging of Pilocytic Astrocytoma:

Back 42

well-circumscribed, cystic lesion with mirror nodules growing off of it

Front 43

histo of Pilocytic Astrocytoma:

Back 43

**Rosenthal fibers**

(astrocytes with thick eosinophilic processes)

Front 44

4 features of Medulloblastoma:

Back 44

1. malignant tumor derived from granular cells of cerebellum

2. (which arise from neuroectodermal tissue)

3. poor prognosis - grows rapidly

4. involved in drop mets to SC

Front 45

histo of Medulloblastoma:

Back 45

Homer-Wright rosettes

- small, round, blue cells surrounding pink areas

Front 46

2 features of Ependymoma:

Back 46

1. m.c.ly arises in 4th ventricle

2. => may present with hydrocephalus

Front 47

histo of Ependymoma:

Back 47

perivascular pseudorosettes

= blue tumor cells surrounding blood vessel, with pink material in between

Front 48

Craniopharyngioma:

(4)

Back 48

1. arises from epithelial remnants of Rathke's pouch

2. => supratentorial mass in children/YA's

3. => compression of optic chiasm, pituitary

4. imaging shows calcifications (solid on imaging)

Front 49

Malignant CNS tumors:

(4)

Back 49

1. GBM

2. Oligodendroglioma

3. Medulloblastoma

4. Ependymoma

Front 50

Benign CNS tumors:

(4)

Back 50

1. Meningioma

2. Schwannoma

3. Pilocytic Astrocytoma

4. Craniopharyngioma

Front 51

neuronal storage dz ~~

Back 51

deficiency in enzyme that causes accum. within lysosomes

=> sez's, cognitive decline

Front 52

metabolic encephalopathy =

Back 52

brain malfunction due to systemic metabolic derangements

Front 53

Wernicke encephalopathy =

Back 53

some combo of ophthalmoplegia, ataxia, and confusion,

***due to thiamine deficiency (B1)***

- esp. seen in alcoholics

Front 54

Wernicke-Karsocoff =

Back 54

Wernicke encephalopathy + recent memory impairment and/or fabrications of gaps (confabulation)

~~ atrophy of thalamus and mammillary bodies

Front 55

ophthalmoplegia =

Back 55

weakness or paralysis of EOM due to neurologic disorder

Front 56

nystagmus =

Back 56

rapid, uncontrolled eye movements

Front 57

***vitamin B12 deficiency =>***

Back 57

***degeneration of POSTERIOR AND Lateral columns of the SC***

- called subacute combined degeneration

Front 58

truncal ataxia is caused by:

Back 58

spinocerebellar dysfunction

=> wide-based gait

Front 59

Hemangioblastoma

(4)

Back 59

1. highly vascular tumors that arise in the **Cerebellum**

2. esp. common in Von Hippel-Lindau dz

3. tumor secretes EPO and can induce polycythemia

4. ~~pilocytic astrocytoma of YA (so mirror nodule)

Front 60

hamartoma =

Back 60

focal overgrowth of otherwise-nl cells

Front 61

SEGA = Subependymal Giant cell Astrocytoma:

(3)

Back 61

1. indolent, low-grade glioma that arises from the wall of the L ventricle

2. presents with signs of obstructive hydrocephalus

3. associated with Tuberous Sclerosis

Front 62

von Hippel-Lindau:

(4)

Back 62

1. AD or spontaneous

2. mut. in VHL tumor suppressor

3. NO derm abnormalities

4. nl development

Front 63

**signs of VHL:**

(3)

Back 63

1. hemangioblastomas in the cerebellum, SC, kidney, retina

2. RCC

3. pheochromocytomas (tumor of adrenal gland)

Front 64

cortical tuber =

Back 64

gray and white matter not quite right

Front 65

TSC inheritance, genes, and weird symp:

(3)

Back 65

1. AD or spontaneous

2. TSC1 (=> hamartin) or TSC2 (=> tuberin)

3. cardiac rhabdomyoma

Front 66

neuro lesions of TSC:

(3)

Back 66

1. cortical tubers
=> developmental disabilities, epilepsy

2. subependymal nodules
(asymp)

3. giant cell astrocytes
=>hydrocephalus

Front 67

skin manifestations of TSC:

(5)

Back 67

1. hypopigmented macules
(lots)

2. adenoma sabaceum
(tiny, abnl growths of skin)

3. shagreen patches

4. fibromas in cuticles

5. retinal hamartomas
(cortical tubers of retina)

Front 68

Neurofibromatosis 1 (NF1)

(2)

Back 68

1. AD or spontaneous

2. NF1 gene (=> neurofibronain, RAS inhibitor)

Front 69

neuro signs of NF1:

(3)

Back 69

(slightly-increased risk of impaired cognition, learning disabilities)

***more PNS***

1. dermal neurofibromas

2. plexiform neurofibromas

3. optic nerve sheath gliomas

Front 70

skin manifestations of NF1:

(3)

Back 70

1. axillary freckles

2. cafe-au-lait spots

3. Lisch nodules (iris hamartomas)

Front 71

other manifestation of NF1:

(2)

Back 71

1. frequent scoliosis,

2. other bone abnormalities

Front 72

NF2:

(2)

Back 72

1. AD or spontaneous

2. => Merlin protein

Front 73

neuro signs of NF2:

(4)

Back 73

1. **bilateral acoustic neuromas**

2. (50%) meningiomas or CN tumors

3. (50%) SC tumors

4. cataracts

Front 74

skin manifestations of NF2:

(2)

Back 74

1.neurofibromas (PNS)

2. cafe-au-lait spots

Front 75

Sturg-Weber:

(2)

Back 75

1. spontaneous ONLY

2. due to residual embryonic blood vessels that form angioma of meninges, face, ipsi eye

Front 76

neuro signs of Sturg-Weber are secondary effects on brain tissue surrounding the angioma, and include:

(3)

Back 76

1. mental retardation

2. sez's

3. sometimes, contra hemiparesis

Front 77

**skin manifestation of Sturg-Weber:**

(1)

Back 77

port wine stain