Neuro Path

Question 1

Alzheimers

Answer 1

• most common cause of dementia in the elderly
• early onset mutations - APP, presenilin-1 and presenilin-2
• late onset associated with Apo E4
• Apo E2 is protective
• decreased Ach in the hippocampus and nucleus basalis
• amyloid beta plaques and neurofibrillary tangles of hyperphosphorylated tau (tangles correlate with degree of dementia)

Question 2

Pick disease

Answer 2

• frontotemporal dementia
• spares parietal lobe and pst 2/3 of superior temporal gyrus
• pick bodies: spherical tau protein aggregates

Question 3

Lewy body dementia

Answer 3

• initially dementia and visual hallucinations followed by parkinsonian features
• alpha synuclein defect

Question 4

GBS findings and treatment

Answer 4

• symmetric ascending weakness/paralysis
• increased CSF protein and papilledema
• treat with plasmapheresis, IVIG

Question 5

Charcot-Marie-Tooth disease

Answer 5

• aka hereditary motor and sensory neuropathy
• AD inherited disorder of production of proteins in peripheral nerves or the myeline sheath
• associated with scoliosis and foot deformities

Question 6

adrenoleukodystrophy

Answer 6

• X linked genetic disorder
• disrupts metabolism of very long chain fatty acids
• excessive buildup in the nervous system, adrenal gland and testes
• progressive disease that can lead to long-term coma/death and adrenal gland crisis

Question 7

Cluster headache

Answer 7

• may induce Horners

- treat with inhaled oxygen, sumatriptan

Question 8

tension headache treatment

Answer 8

• treat with NSAIDs, acetaminophen, amitriptyline for chronic pain

Question 9

migraine prophylaxis

Answer 9

• propranolol, topiramate, CCBs, amitriptyline

Question 10

peripheral vertigo

Answer 10

• more common, inner ear etiology (semicircular cana debris, vestibular nerve infection, meniere disease)
• positional testing –> delayed horizontal nystagmus

Question 11

central vertigo

Answer 11

• brain stem or cerebellar lesion
• directional change of nystagmus, skew deviation, diplopia, dysmetria
• positional testing –> immedate nystagmus in any direction, may change directions
• focal neuro findings

Question 12

meniere diseae

Answer 12

• tinnitus +/- fullness
• vertigo - subjective sensation of movement
• sensorineural hearing loss
• due to defective resorption of endolymph –> increased volume of inner ear
• differentiate from schwannoma by episodic nature

Question 13

Sturge Weber syndrome

Answer 13

• congenital (non-inherited) developmental anomaly of neural crest derivatives due to activating mutation of GNAQ gene
• port wine stain, ipsilateral leptomeningeal angioma, seizures, intellectual disability, episcleral hemangioma, early-onset glaucoma
• STURGE: sporadic, tram track calcifications, unilateral, retardation, glaucoma, GNAQ gene, epilepsy

Question 14

tuberous sclerosis

Answer 14

HAMARTOMASS - Harmartomas of the CNS and skin, Angiofibromas, Mitral regurg, Ash-leaf spots, cardiac Rhabdomyoma, (TS), autosomal dOminant, Mental retardation, renal Angiomyolipoma (mass of fat, smooth muscle and blood vessels), Seizures, Shagreen patches
- increased incidence of subependymal astrocytomas and ungual fibromas

Question 15

NF1 (Von Recklinghausen disease)

Answer 15

• cafe au lait spots, lisch nodules (pigemented iris hamartomas), neurofibromas on skin, optic gliomas, pheos
• mutated NF1 on chr 17 (tumor suppressor gene), single gene AD inheritance
• skin tumors are derived from neural crest cells

Question 16

VHL disease

Answer 16

• cavernous hemangiomas in skin, mucosa and organs
• bilateral RCCs, hemangioblastoma in retina, brain stem, cerebellum and pheos
• AD mutated VHL tumor suppressor gene on Chr 3
• mutation results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors

Question 17

glioblastoma

Answer 17

common, highly malignant primary brain tumor with ~1 year median survival

• found in cerebral hemispheres, can cross the CC, stains + for GFAP
• “pseudopalisading” pleomorphic tumor cells border central areas of hemorrhage and necrosis

Question 18

meningioma

Answer 18

• common benign primary brain tumor (has estrogen receptors - more common in women)
• arises from arachnoid cells (extra-axial)
• may present with seizures of focal neuro signs
• spindle cells concentrically in a whorled pattern, psammoma bodies

Question 19

hemagioblastoma

Answer 19

• most often cerebellar
• associated with VHL when found with retinal angiomas
• can produce EPO –> secondary polycythemia
• closely arranged, thin walled capillaries with minimal interleaving parenchyma

Question 20

schwannoma

Answer 20

• ususally found at the CPA, schwann cell origin, S-100 +
• resectable or treated with sterotactic radiosurgery
• can also involve V and VII
• bilateral acoustic schwannomas found in NF2

Question 21

oligodendroglioma

Answer 21

• rare, slow growing
• most often in frontal lobe white matter –> seizures
• chicken wire capillary pattern
• oligodendrocytes = “fried egg” cells
• often calcified

Question 22

pilocytic astrocytoma

Answer 22

• childhood tumor of the cerebellum, often well-circumscribed
• GFAP +, benign, good prognosis
• rosenthal fibers - eosinophilic, corkscrew fibers
• cystic + solid components

Question 23

medulloblastoma

Answer 23

• highly malignant cerebellar tumor
• primitive neuroectodermal tumor (granular cells)
• can compress 4th ventricle –> hydrocephalus
• can have “drop mets” to the SC
• Homer-Wright rosettes: small blue cell around neuritic processes
• presents with headache and cerebellar dysfunction

Question 24

ependymoma

Answer 24

• ependymal cell tumors most commonly found in 4th ventricle
• can cause hydrocephalus, poor prognosis
• characteristic perivascular pseudo-rosettes (gland-like structures)
• rod-shaped blepharoplasts (basal ciliary bodies) found near nucleus

Question 25

craniopharyngioma

Answer 25

- benign childhood tumor (most common supratentorial) - derived from remnants of Rathke's pouch (same as ant pit) - calcification is common

Question 26

cingulate (subfalcine) herniation

Answer 26

- can compress ACA

Question 27

uncal herniation

Answer 27

- can compress CN III (ipsilateral down and out), PCA (contralateral homonymous hemianopsia), and contralateral crus cerebri (ipsilateral paralysis)

Question 28

cerebellar tonsilar herniation

Answer 28

- coma and death due to brain stem compression