Neuro X Flashcards
deficient enzyme in Krabbe disease
galactocerbosidase
what builds up in krabbe’s?
1) galactocebroside
2) psychosine
Krabbe pathophys
galactocerboside + psychosine destroy myelin sheath.
findings in Krabbe’s
1) peripheral neuropathy
2) developmental delay
3) optic atrophy
4) globoid cells
Metachromatic leukodystrophy pathophys
Buildup of sulfatides leads to impaired production and destruction of myelin sheath.
Findings in metachromatic leukodystrophy
1) central and peripheral demyelination with ataxia and dementia
PML epidemiology
2-4% of AIDS patients
What drugs confer increased risk for PML?
1) natalizumab
2) rituximab
adrenoleukodystrophy complications
- Long-term coma/death
- adrenal gland crisis
adrenoleukodystrophy pathophys
buildup of very-long-chain fatty acids in nervous system + adrenal gland + testes
General characteristics of seizures
Synchronized, high-frequency neuronal firing
Most common origin of partial seizures
medial temporal lobe
partial seizure common scenario
preceded by seizure aura.
Simple partial vs. complex partial focal seizures
consciousness intact with simple, impaired in complex
status epilepticus cutoff
5 minutes
Most common causes of seizures in children…
1) genetic
2) infection (febrile)
3) trauma
4) congenital
5) metabolic
Most common causes of seizures in adults…
1) tumor
2) trauma
3) stroke
4) infection
Most common causes of seizures in elderly…
1) stroke
2) tumor
3) trauma
4) metabolic
5) infection
generalized seizures
1) absence
2) myoclonic
3) tonic-clonic
4) tonic
5) atonic
absence seizure characteristics
1) 3 Hz
2) no postictal confusion
3) blank stare
tonic clonic (grand mal) presentation
alternating stiffening and movement
only headache that’s more common in men?
cluster
cluster duration
15 min-3 hr; repetitive
cluster associated with?
horner syndrome
acute cluster treatment
sumatriptan + 100% O2
cluster prophylaxis
verapamil
typical tension headache duration
Greater than 30 minutes, typically 4-6 hrs. constant.
treatment for chronic pain associated with tension headaches?
amitriptyline
migraine duration
4-72 hours
migraine pathophys
Due to irritation of CN V, meninges, or blood vessels.
Molecules related to migraines
Release of substance P, calcitonin gene-related peptide, vasoactive peptides.
acute migraine treatment
1) NSAIDs
2) triptans
3) dihydroergotamine
migrane prophylaxis
1) lifestyle changes (sleep, exercise, diet)
2) beta blockers
3) calcium channel blockers
4) amitriptyline
5) topiramate
6) valproate
trigeminal neuralgia duration
less than 1 minute usually
more common type of vertigo?
peripheral vertigo
peripheral vertigo pathophys
inner ear etiology (semicircular canal debris, vestibular nerve infection, Meniere disease).
How do you test for peripheral vertigo?
positional testing leading to delayed horizontal nystagmus.
central vertigo pathophys
Brain stem or cerebellar lesion (eg stroke affecting vestibular nuclei or posterior fossa tumor).
Findings in central vertigo
1) directional change of nystagmus
2) skew deviation
3) diplopia
4) dysmetria
How do you test for central vertigo?
Positional testing –> immediate nystagmus in any direction; may change directions. Focal neurologic findings.
Other name for Sturge-Weber syndrome
Encephalotrigeminal angiomatosis
Sturge-Weber pathophys
Congenital, *non-inherited (somatic) developmental anomaly of neural crest derivates due to activating mutation of GNAQ gene.
**sporadic
blood vessels affected in storage-weber
small (capillary-sized) blood vessels.
nevus flammeus
non-neoplastic “birthmark” in CN V1/V2 distribution
other impt findings in sturge-weber
1) ipsilateral leptomeningeal angioma –> leading to seizures/epilepsy
2) early onset glaucoma
pathophys of early onset glaucoma in spurge-weber?
episcleral hemangioma –> increased IOP –> early-onset glaucoma.
What are tram track calcifications?
bright spots on imaging on opposing gyri.
Increased incidence of what in tuberous sclerosis?
1) subepndymal astrocytomas
2) ungual fibromas
cardiac complication of tuberous sclerosis?
Mitral regurgitation
other name for NF1?
von Recklinghausen disease
origin of neurofibromas
neural crest cells
mutated tumor suppressor gene in NF1?
neurofibromin
neurofibromin action
negative regulator of RAS
hemangioblastoma description
high vascularity tumors with hyperchromatic nuclei.
where do hemangioblastomas occur in VHL?
1) retina
2) *brain stem
3) cerebellum
4) *spine
other finding in VHL…
angiomatosis
angiomatosis?
cavernous hemangioma in skin, mucosa, organs
GBM tumor type?
grade IV astrocytoma
GBM staining
GFAP (astrocytes)
GBM prognosis
1-year median survival
meningioma origin
arachnoid cells
meningioma characteristics
1) extra-axial (external to brain parenchyma)
2) may have dural attachment (“tail”)
meningioma management
resection and/or radiosurgery
meningioma presentation
1) often asymptomatic
2) seizures or focal neurologic signs
meningioma pathology
1) spindle cells concentrically arranged in a whorled pattern
2) psammoma bodies
