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228 Cards in this Set
- Front
- Back
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Notochord induces... |
ectoderm to differentiate into neuroectoderm and form neural plate |
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neural plate gives rise to |
neural tube neural crest cells |
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notochord becomes |
nucleus pulposus of intervertebral discs in adults |
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alar plate |
dorsal sensory
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basal plate |
ventral motor |
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forebrain (prosencephalon) gives rise to (2) |
telencephalon, diencephalon cerebral hemispheres thalamus |
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midbrian (mesencephalon) gives rise to |
mesencephalon midbrain |
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rhombencephalon (hindbrain) gives rise to (2) |
metencephalon, myelencephalon pons, cerebellum medulla |
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neuroectoderm gives rise to |
CNS neurons, ependymal cells, oligodendroglia, astrocytes |
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neural crest gives rise to |
PNS neurons Schwann cells |
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Mesoderm gives rise to (M) |
Microglia
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Neural tube defects |
Neuropores fail to fuse (4th week) Associated with low folic acid intake elevated alpha fetoprotein in amniotic fluid and maternal serum elevated ACh esterase in amniotic fluid is confirmatory test |
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Spina bifida occulta |
Failure of bony spinal canal to close no structural herniation Seen at lower vertebral levels Associated with tuft of hair or skin dimple Normal AFP |
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Meningocele |
Meninges (but no neural tissue) herniate through bony defect |
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meningomyelocele |
Meninges and neural tissue herniate through bony defect |
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anencephaly |
malformation of anterior neural tube; no forebrain elevated AFP polyhydramnios (no swallowing center in brain) Associated with maternal type I diabetes maternal folate supplementation decreases risk |
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holoprosencephaly |
failure of left and right hemispheres to separate weeks 5-6 SHH mutations cleft lip/palate (moderate) cyclopia (severe) patau syndrome, Fetal alcohol syndrome |
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Chiari II |
Herniation of cerebellar tonsils and vermis through foramen magnum aqueductal stenosis hydrocephalus
often presents with lumbosacral myelomeningocele, paralysis below defect |
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Dandy Walker |
Agenesis of cerebellar vermis cystic enlargement of fourth ventricle associated with hydrocephalus, spina bifida |
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syringomyelia |
Cystic cavity (syrinx) within spinal cord "cape-like" bilateral loss of pain and temp Chiari I malformation association most common in C8-T1 |
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GFAP |
astrocyte marker |
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Acoustic neuroma |
schwannoma CN VIII problem bilateral-- neurofibromatosis type 2 |
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free nerve endings |
skin, epidermis, viscera
pain/temp |
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meissner corpuscles |
hairless skin myelinated fibers
dynaimc, fine/light touch, position sense |
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pacinian corpsucles |
large/ myellinated fibers deep skin layers, ligaments, joints
vibration, pressure |
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merkel discs |
large, myelinated fibers finger tips, superficial skin
pressure, deep static touch, position sense |
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Ruffini corpuscles |
finger tips, joints
pressure, joint angle change |
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peripheral nerve coverings |
endoneurim perineurium epineurium |
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NE sx location |
locus ceruleus (pons) |
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dopamine sx locatoin |
ventral tegmentum substantia nigra pars compacta (midbrain) |
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serotonin (5-HT) sx location |
Raphe nucleus (pons, medulla, midbrain) |
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ACh sx location |
Basal nucleus of Meynert |
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GABA sx location |
nucleus accumbens |
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BBB structures (3) |
tight junctions basement membrane astrocyte foot processes |
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which substances diffuse readily across BBB? |
nonpolar/lipid-soluble substances via diffusion |
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vasogenic edema |
infarction/neoplasm that destroys endothelial tight junction, compromises BBB |
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Hypothalamus (TAN HATS) |
TAN HATS Thirst and water balance Adenohypophysis contol Neurohypophysis Hunger Autonomic regulation Temp regulation Sexual urges |
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Lateral hypothalamus |
Hunger (if you zap your lateral nucleus, you will shrink laterally) |
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ventromedial area |
Satiety if you zap your head ventromedially, you grow ventrally and medially |
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anterior hypothalamus |
Cooling, parasympathetic anterior=cool off
A/C (anterior cooling) |
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posterior hypothalamus |
heating, sympathtic
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SCN |
circadian rhythm you need sleep to be charismatic |
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Sleep stages |
BATS Drink Blood
awake, eyes open: Beta (high frequency, low amplitude) awake, eyes closed: Alpha Non REM sleep: Stage N1: light sleep: Theta N2: deeper, bruxism: Sleep spindles and K complexes N3: deepest non-REM sleep: Delta (low frequency, hi amplitude) REM sleep: loss of motor tone, increase O2 use, increase variable pulse and BP, tumescence, memory processing function: Beta |
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Thalamus |
relay for ascending sensory information (except olfaction) |
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VPL |
STT DCML |
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VPM |
trigeminal, gustatory pathway face sensation (makeup goes to the face) |
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LGN |
CN II vision goes to calcarine sulcus |
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MGN |
hearing |
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VL |
Motor |
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Limbic system |
5 Fs: Feeding, fleeing, fighting, feeling, and sex
hippocampus, amygdala, fornix, mammillary bodies, cingulate gyrus |
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osmotic demyelination syndrome (central pontine myelinolysis) |
acute paralysis, dysarthria, dysphagia, diplopia, loss of consciousness "locked in syndrome"
massive axonal demyelination in pontine white matter secondary to osmotic changes
overly rapid correction of hyponatremia |
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cerebellum |
modulates movement; aids in coordination and balance
input: contralateral cortex, ipisilaterl proprioceptive information
output: sends info to contralateral cortex to modulate movement. output nerves=Purkinje cells
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lateral cerebellar lesions |
voulntary movement of extremities fall toward ipsilateral side |
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medial lesions |
truncal ataxia nystagmus head tilting bilateral motor deficits affecting axial and proximal musculature |
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chorea |
sudden, jerky, purposeless movements
lesion: basal ganglia (Huntington)
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essential tremor |
hi frequency tremor with sustained posture worsened with movement or when anxious
often familial self-medicate with EtOH
rx: beta blockers, primidone |
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intention tremor |
slow, zigzag motion when pointing/extending toward a target
cerebellar dysfunction |
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resting tremor |
uncontroled movement of distal appendages tremor alleviated by intentional movement
Parkinson disease
"pill-rolling tremor" |
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Parkinson disease |
Degenerative CNS disorder Lewy bodies (alpha synuclein) loss of dopaminergic neurons from substantia nigra pars compacta
TRAPS Tremor (pill-rolling tremor at rest) Rigidity (cogwheel) Akinesia (bradykinesia) postural instability Shuffling gait |
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alpha synuclein |
intracellular eosinophilic inclusions seen in Parkinson's disesae |
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Huntington disease |
AD trinucleotide repeat disorder chromosome 4 sx manifest between ages 20-50 choreiform movements, aggression, depression, dementia (mistaken for substance abuse)
elevated dopamine, decreased GABA, decreased ACh
atrophy of caudate nuclei ex vacuo dilatatoin of frontal horns on MRI
expansion of CAG repeats "Caudate loses ACh and GABA" |
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aphasia
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higher-order inability to speak
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dysarthria |
motor inability to speak |
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Broca aphasia |
nonfluent aphasia with intact comprehension and impaired repetition
broca area: inferior frontal gyrus of frontal lobe
Broca=Broken Boca |
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Wernicke aphasia |
Fluent aphasia with impaired comprehension and repetition
Wernicke area-- superior temporal gyrus of temporal lobe
Wernicke is Wordy but makes no sense Wernicke=what? |
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amygdala lesion |
Kluver Bucy syndrome: disinhibited behavior hyperphagia, hypersexuality, hyperorality assoicated with HSV-1
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frontal lobe lesion |
disihibition, defect in concentration, orientation, judgment re-emergence of primitive reflexes |
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mammillary body lesion |
Wernicke Korsakoff syndrome triad: confusion, ophthalmoplegia, ataxia
associated with thiamine (vit B1) deficiency and excessive EtOH use
can be precipitated by giving glucose without B1 to B1 deficient patient |
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cerebellar hemisphere lesion |
ipsilateral deficit: fall toward side of lesion |
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cerebellar vermis |
truncal ataxia, dysarthria |
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STN |
contralateral hemiballismus |
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hippocampus |
anterograde amnesia |
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PPRF |
eyes look away from side of lesion |
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Frontal eye fields |
eyes look toward lesion |
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homunculus |
lower extremity medial (ACA) upper extremity, face lateral (MCA) |
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MCA stroke |
motor, sensory: upper limb/face Wernicke, Broca area
contralateral paralysis aphasia if dominant hemineglect if nondominant hemisphere |
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ACA |
motor, sensory cortex: lower limb contralateral paralysis contralateral loss of sensatoin |
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lenticulostriate artery |
striatum, internal capsule contralateral hemiparesis/hemplegia
common location of lacunar infarcts (secondary to unmanaged HTN0 |
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Saccular (berry) aneurysm |
occurs at bifurcation of circle of Willis Anterior communicating artery rupture--> subarachnoid hemorrhage or hemorrhagic stroke
associated with ADPKD, Ehlers-Danlos
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Charcot-Bouchard microaneurysm |
chronic HTN association affects small vessels |
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central post-stroke pain syndrome |
neuropathic pain due to thalamic lesions 10% of stroke patients |
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epidural hematoma |
rupture of middle menigneal artery often secondary to fracture of temporal bone lucid interval rapid expansion under systemic arterial pressure transtentorial herniation, CNIII palsy CT: biconvex (lentiform), hyperdense blood collection, not crossing suture lines. Can cross falx, tentorium |
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Subdural hematoma |
Rupture of bridging veins slow venous bleeding elderly, alcoholics, blunt trauma, shaken baby crescent-shaped hemorrhage that crosses suture lines. midline shift: cannot cross falx, tentorium |
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subarachnoid hemorrhage |
rupture of aneurysm (eg, berry saccular aneurysm) rapid time course "worst headache of my life" bloody or yellow spinal tap 2-3 days after: risk of vasospasm due to blood breakdown, and rebleed |
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intraparenchymal (hypertensive) hemorrhage |
caused by systemic HTN also seen in amyloid angiopathy, vasculitis, neoplasm basal ganglia, internal capsule |
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Ischemic brain disease/stroke |
irreversible damage begins after 5 minutes of hypoxia most vulnerable: hippocampus, neocortex, cerebellum, watershed areas
stroke imaging: noncontrast CT to exclude hemorrhage
CT detects ischemic changes in 6-24 hours
diffusion-weighted MRI can detect ischemia within 3-30 min |
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stroke: 12-48 hrs |
red neurons
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stroke: 24-72 hrs |
necrosis, PMNs |
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stroke: 3-5 days |
macrophages (microglia) |
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stroke: 1-2 weeks |
reactive gliosis vascular proliferation |
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stroke, >2 weeks |
glial scar |
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hemorrhagic stroke |
intracerebral bleeding, often due to HTN, anticoagulation, cancer can be secondary to ischemic stroke folowed by reperfusion basal ganglia are most cmmmon site of intracerebral hemorrhage |
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ischemic stroke |
acute blockage of vessels-->disruption of blood flow and subsequent ischemia-->liquefactive necrosis |
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three types of ischemic stroke |
thrombotic: due to clot forming directly at site of infarction, usually over an atherosclerotic plaque
embolic: embolus from another part of the body obstructs vessel.
hypoxic: due to hypoperfusion or hypoxemia. tends to affect watershed areas
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rx of ischemic stroke |
tPA (if within 3-4.5 hours and no hemorrhage/risk of hemorrhage) reduce risk with medical rx
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TIA |
brief, reversible episode of focal neurologic dysfunction without acute infarction. MRI negative majority resolve in <15 minutes; defects due to focal ischemia |
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flow of CSF |
Lateral ventricle->3rd ventricle->4th ventricle->subarachnoid space |
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foramen of Monro |
connects lateral ventricle to 3rd ventricle |
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cerebral aqueduct
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connects 3rd and 4th ventricles |
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idiopathic intracranial HTn |
increased ICP with no apparent cause on imaging increased opening pressure on LP LP provides headache relief |
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communicating hydrocephalus |
decreased CSF absorption by arachnoid granulations->increased ICP, papilledema, herniation |
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normal pressure hydrocephalus |
affects elderly idiopathic triad of urinary incontinence, ataxia, cognitive dysfunction "wet, wobbly, wacky" |
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noncommunicating hydrocephalus |
structural blockage of CSF circulation within ventricular system (eg, stenosisof aqueduct of Sylvius) |
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Ex vacuo ventriculomegaly |
appearance of increased CSF on imaging actually due to decreased brain tissue ICP is normal |
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spinal nerve pairs |
31
8 cervical 12 thoracic 5 lumbar 5 sacral 1 coccygeal |
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vertebral disc herniation |
nucleus pulposus herniates through annulus fibrosus usually occurs posterolateraly L4-L5 or L5-S1 |
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LP performed... |
L3-L4 or L4-L5 |
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Dorsal column |
ascending: pressure, proprioception, touch, vibration
ascends ipsilaterally
decussages in medulla |
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STT |
ascending pain, temp
decussates in ipsilateral gray matter ascends contralaterally
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LCST |
motor cortex to caudal medulla decussation in caudal medulla descends spinal cord contralaterally
contralateral voluntary limb movement |
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LMN signs |
less muscle mass, decreased tone, decreased reflexes, downgoing toes |
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UMN signs |
everything up tone, DTR, toes (positive Babinski) |
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poliovirus |
LMN lesions |
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Spinal muscular atrophy |
LMN lesions |
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Friedreich ataxia |
AR trinucleotide repeat disorder GAA on chromosome 9 frataxin gene (iron binding gene) degeneration of spinal cord tracts staggering gait falling nystagmus, dysarthria pes cavus, hammer toes DM hypertrophic cardiomyopathy presents in childhood with kyphoscoliosis
Friedrich is Fratastic he's your favorite frat brother, always staggering and falling but has a sweet, big heart |
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Brown-Sequard syndrome |
hemisection of spinal cord |
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T4 |
at the teat pore dermatome |
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T10 dermatome |
at the belly button |
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L1 |
inguinal ligament |
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S2, 3, 4 |
keep the penis off the floor |
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biceps reflex |
C5 nerve root |
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triceps reflex |
C7 nerve root |
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patella |
L4 nerve root |
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achilles reflex |
S1 nerve root |
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S1, S2 |
buckle my shoe (achilles reflex) |
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L3,4 |
kick the door (patellar reflex) |
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C5,6 |
"pick up stick" (biceps reflex) |
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C7,8 |
"lay them straight" (triceps reflex) |
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primitive reflexes |
inhibited by mature/developing frontal lobe may re-emerge in those with frontal lobe lesions |
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Moro reflex |
"hang on for life"-- extend arms when startled, then draw together |
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Rooting reflex |
movement of head toward one side if cheek is stroked (nipple seeking) |
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Sucking reflex |
sucking response when roof of mouth is touched |
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palmar reflex |
curling of finger if palm is stroked |
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plantar reflex |
dorsiflexion of large toe and fanning of other toes with plantar stimulation
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galant reflex |
stroking along one side of spine while newborn is in ventral suspension causes lateral flexion of lower body toward stimulated side |
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pineal gland |
melatonin secretion, circadian rhythms |
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superior colliculi |
conjugate vertical gaze center
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inferior colliculi |
auditory |
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parinaud syndrome |
paralysis of conjugate vertical gaze due to lesion in superior colliculi |
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CN nuclei midbrain |
CN III, IV |
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CN nuclei pons |
CN V, VI, VII, VIII |
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CN nuclei medulla |
CN IX, X, XII
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spinal cord Cn nuclei |
CN XI |
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nucleus solitarius |
vagal nucleus visceral sensory information (taste, baroreceptors, gut distension) VII, IX, X |
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nucleus ambiguus |
vagal nucleus Motor innervation of pharynx, larynx, upper esophagus
IX, X, XI |
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Dorsal motor nucleus |
vagal nucleus sends autonomic fibers to heart, lungs, upper GI X |
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Corneal reflex |
afferent: V1 efferent: VII |
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lacrimation reflex |
afferent: V1 efferent: VII
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jaw jerk reflex |
afferent: V3 efferent: V3 |
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pupillary reflex |
afferent: II efferent: III
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gag reflex |
afferent: IX efferent: X |
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CN V motor lesion |
jaw deviates toward side of lesion due to unopposed force from opposite pterygoid muscle |
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CN X lesion |
uvula deviates away from side of lesion. Weak side collapses and uvula points away |
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CN XI lesion |
weakness turning head to contralateral side of lesion (SCM0 shoulder droop on side of lesion (trapezius) left SCM contracts to help turn the head to the right
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CN XII lesion (LMN) |
tongue deviates toward side of lesion ("lick your wounds") due to weakened tongue muscles on affected side |
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cavernous sinus contains |
CN III, IV, V1, VI |
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Cholesteatoma |
overgrowth of desquamated keratin debris within middle ear space may erode ossicles, mastoid air cells conductive hearing loss |
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UMN facial lesion |
contralateral paralysis of lower face forehead spared due to UMN innervation |
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LMN facial lesion |
ipsilateral paralysis of upper and lower face |
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Facial nerve palsy |
peripheral ipsilateral facial paralysis Bell palsy Lyme disease herpes zoster-- Ramsay Hung syndrome rx: corticosteroids |
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Mastication muscles |
3 M's close jaw: Masseter teMporalis Medial pterygoid
lateral pterygoid opens jaw
innervated by v3 |
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hyperopia |
eye too short for refractive power of lens and cornea light focused behind retina |
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myopia |
eye too long light focused in front of retina |
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astigmatism |
abnormal curvature of cornea different refractive power at different axes |
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presbyopia |
age-related impaired accomadation (focusing on near objects) possibly due to decrease lens elasticity often necessitates "reading glasses" |
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cataract |
painless, often bilateral opacification of lens decreased vision |
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glaucoma (3 parts0 |
visual field loss increased IOP optic nerve damage
open and closed/narrow angle glaucoma |
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age-related macular degeneration |
degeneration of macula (central area of retina) distortion (metamorphosia) loss of central vision (scotoma)
dry: nonexudative; drusen
wet: exudative; bleeding secondary to choroidal neovascularization rx: anti-VEGF |
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diabetic retinopathy |
retinal damage due to chronic hyperglycemia
nonproliferative: damaged capillaries leak blood proliferative: chronic hypoxia-->new blood vessel formation (rx with anti-VEGF) |
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retinal vein occlusion |
blockage of central or branch retinal vein due to compression from nearby arterial athersclerosis |
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retinal detachment |
separation of neurosensory layer of retina from outermost pigmented epithelium |
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central retinal artery occlusion |
acute, painless monocular vision loss Retina cloudy with attenuated vessels "cherry red" spot at fovea |
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retinitis pigmentosa |
inherited retinal degeneration painless, progressive vision loss beginning with night blindness bone-spicule shaped deposits around macula |
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retinitis |
retinal edema and necrosis leading to scar often viral associated with immunosuppression |
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Papilledema |
optic disc swelling due to increased ICP enlarged blind spot and elevated optic disc with blurred margins seen on fundoscopic exam |
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Marcus Gunn Pupil |
afferent pupillary defect due to optic nerve damage or severe retinal injury decreased bilateral papillary constriction when light is shone in affected eye relative to unaffected eye testing with swinging flashlight test |
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Horner syndrome |
Sympathetic denervation of face
Ptosis anhydrosis miosis
lesion of spinal cord above T1 (pancoast tumor) |
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LR6SO4R3 |
CN VI: lateral rectus CN IV: superior oblique CN III: rest |
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CN III damage |
parasympathetic: fibers on periphery; first affected by compression-- diminished pupillary light reflex, blown pupil, down and out gaze
motor output: middle; affected by vascular disease ptosis, "down and out" gaze |
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CN IV damage |
eye moves upward, particularly with contralateral gaze head tilt toward side of lesion |
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CN VI damage |
medially directed eye that cannot abduct |
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dementia |
decrease in cognitive ability, memory, or function with intact consciousness |
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Alzheimer disease |
most common cause of dementia in elderly Down syndrome at increased risk Familial form: ApoE2: decreased risk ApoE4: increased risk
APP, presinilin-1 and 2: increased risk of early onset
histologic/gross findings: global cortical atrophy decreased ACh senile plaques
extracellular beat amyloid core
amyloid beta syntehsized by APP
neurofibrillary tangles: intracellular tau protein |
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frontotemporal dementia |
dementia, aphasia, parkinsonian aspects change in personality spares parietal lobes and posterior 2/3 of superior temporal gyrus
Pick disease pick bodies: silver-staining spherical tau protein aggregates
frontotemporal atrophy |
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Lewy body dementia |
initially dementia and visual hallucinations parkinsonian sx
alpha synuclein defect (Lewy bodies, primarily cortical) |
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Creutzfeldt-Jakob disease |
rapidly progessive (weeks to months) dementia with myoclonus ("startle myoclonus")
spongiform cortex prions beta pleated sheet resistant to proteases |
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Multiple sclerosis |
AI inflammation and demyelination of CNS Relapsing/remitting course most common: women in 20s and 30s more common in whites living farther from equator
Charcot triad is SIN: Scanning speech Intention tremor, Incontinence, Internuclear ophthalmoplegia Nystagmus
findings: elevated protein IgG in CSF oligoclonal bands are diagnostic MRI is gold standard periventricular plaques multiple white matter lesions separated in space and time
rx: rx acute flares with IV steroids |
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Acute inflammatory demyelinating polyradiculopaty (guillain barre syndrome) |
AI condition that destroys Schwann cells inflammation and demyelination of peripheral nerves and motor fibers Symmetric ascending muscle weakness/paralysis beginning in lower extremities Facial paralysis 50% autonomic dysregulation almost all survive; most recover completely after weeks to months
findings: elevated CSF protein normal cell count
associated with invections (C. jejuni) AI attack of peripheral myelin due to molecular mimicry
respirator support is critical until recovery
additional rx: plasmapheresis, IVig |
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Acute disseminated (postinfectious) encephalomyelitis |
Multifocal periventricular inflammation and demyelination after infection (measles/VZV) or vaccines (rabies, smallpox) |
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Charcot-Marie-Tooth disease |
AKA hereditary motor and sensory neuropathy progressive hereditary nerve disorders related to defective production of proteins involved in structure and function of peripheral nerves or the myelin sheath
AD
scoliosis, foot deformities |
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Krabbe disease |
AR lysosomal storage disorder defeciency of galactocerebrosidase Buildup of galactocerebrosidase and psychosine destroys myelin sheath findings: peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
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Metachromatic leukodystrophy |
AR lysosomal storage disease arylsulfatase A deficiency Buildup of sulfatides->impaired production and destruction of myelin sheath findings: central and peripheral demyelination with ataxia, dementia |
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Progressive multifocal leukoencephalopathy |
Demyelination of CNS due to destrution of oligodendrocytes Associated with JC virus 2-4% of AIDS patients rapidly progressive, usually fatal increased risk with natalizumab, rituximab |
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Adrenoleukodystrophy |
X-linked affects males disrupts metabolism of VLCFA excessive buildup in nervous system, adrenal glands, testes adrenal gland crisis |
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partial (focal) seizures |
affect single area of brain most commonly originate in medial temporal lobe preceded by seizure aura
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simple partial seizure |
consciousness intact motor, sensory, autonomic, psychic |
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complex partial seizure |
impaired consciousness |
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epilepsy |
disorder of recurrent seizures |
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status epilepticus |
continuous or recurring seizures that may result in brain injury >10-30 min |
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Generalized seizures |
diffuse |
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Absence seizure |
3 Hz no posticatal confusion blank stare |
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myoclonic seizure |
quick, repetitive jerks |
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tonic-clonic |
grand mal alternating stiffening and movement |
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tonic |
stiffening |
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atonic |
"drop" seizures (falls to floor) commonly mistaken for fainting |
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cluster headaches |
unilateral 15 min-3 hrs
Repetitive, brief headache excruciating periorbital pain with lacrimation and rhinorrhea may induce Horner syndrome more common in males
rx: 100% O2, sumatriptan |
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Tension headaches |
bilateral
>30 min (typically 4-6 hrs); constant
steady pain. no photophobia or phonophobia. No aura
rx: analgesics, NSAIDs, acetaminophen, amitryptiline for chronic pain |
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Migraine |
unilateral
4-72 hrs
Pulsating pain with nausea, photophobia, or phonphobia. May have "aura" due to irritation of CN V, meninges, or blood vessel
rx: abortive rx (triptans, NSAIDs) and prophylaxis (propanolo, topiramate, Ca2+ channel blockers, amitriptyline)
POUND: Pulsating One-day duration Unilateral Nausea Disabling |
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Vertigo |
sensation of spinning while stationary
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peripheral vertigo |
more common inner ear etiology positional testing--> delayed horizontal nystagmus |
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central vertigo |
Brain stem/cerebellar lesion directional change of nystagmus, skew deviation, diplopia, dysmetria positional testing: immediate nystagmus in any direction; may change directions. focal neurologic findings |
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Sturge-Weber syndrome |
congenital, non-inherited (somatic) developmental anomaly of neural crest derivatives (mesoderm/ectoderm) due to activating mutation of GNAQ gene Affects small (capillary-sized) blood vessels
port-wine stain on face in CN V1/V2 distribution
ipsilateral leptomeningeal angiomas seizures/epilepsy; intellectual disaiblity; episcleral hemangioma; early-onset glaucoma
STURGE Weber: Sporadic, port-wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene Epilepsy |
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Tuberous sclerosis |
HAMARTOMAS
Hamartomas in CNS and skin Angiofibromas Mitral regurg Ash-leaf spots cardiac Rhabdomyoma Tuberous sclerosis autosomal dOminant Mental retardation renal Angiomyolipoma Seizures, Shagreen patches
increased incidence of subependymal astrocytomas and ungula fibromas |
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Neurofibromatosis type I
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Cafe-au-lait spots Lisch nodules cutaneous neurofibromas optic gliomas pheochromocytomas mutated NF1 tumor suppressor gene on chromosome 17 skin tumors derived from neural crest cells |
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von-Hippel-Lindau disease |
Hemangioblastomas in brain stem, cerebellum, spine angiomatosis bilateral retinal cell caricnomas; pheochromocytoma |
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Glioblastoma multiforme (grade IV astrocytoma) |
common, highly malignant primary brain tumor 1 year medial survival found in cerebral hemispheres can cross corpus callosum ("butterfly glioma") Stain astrocytes for GFAP
histology: pseudopalisading pleomorphic tumor cells: border central area of necrosis and hemorrhage |
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meningioma |
Common, typically benign primary brain tumor most often occurs in convexities of hemispheres and parisagittal region Arises from arachnoid cells, is extra-axial and may have dural attachment (dural "tail") often asx; may present with seizures or focal neurologic signs
resection and/or radiosurgery
histology: spindle cells concentrically arranged in whorled pattern; psammoma bodies (laminated calcifications) |
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hemangioblastoma |
most often cerebellar associated with VHL syndrome when found with retinal angiomas can produce EPO--> secondary polycythemia histology: closely-arranged, thin-walled capillaries with minimal intervening parenchyma |
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Schwannoma |
Classically at cerebellopontine angle, but can be along any peripheral nerve Schwann cell origin S-100 positive often localized to CN VIII-> vestibular schwannoma Resectable or treatable with sterotactic radiosurgery bilateral vestibular schwannomas found in NF-2
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oligodendroglioma |
rare, slow-growing most often in frontal lobes "chicken-wire" capillary pattern histology: oligodendrocytes=fried egg cells (round nuclei with clear cytoplasm) often calcified in oligodendroglioma
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pituitary adenoma |
most commonly prolactinoma bitemporal hemianopia hyper or hypo-pituitarism |
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pilocytic (low-grade) astrocytoma |
usually well-circumscribed found in posterior fossa in children may be supratentorial GFAP+ benign; good prognosis
Rosenthal fibers-- eosinophilic, corkscrew fibers cystic, solid |
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medulloblastoma |
highly malignant cerebellar tumor form of primitive neuorectodermal tumor can compress fourth ventricle, causing hydrocephalus can send "drop mets" to spinal cord
Homer-Wright rosettes solid (gross), small blue cells |
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Ependymoma |
ependymal cell tumors most commonly found in fourth ventricle can cause hydrocephalus poor prognosis
characteristic perivascular rosettes rod-shaped blepharoplasts found near nucleus |
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craniopharyngioma |
benign childhood tumor, may be confused with pituitary adenoma most common childhood supratentorial tumor
derived from remnants of Rathke pouch calcification is common (tooth enamel-like) |
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Uncal herniation |
uncus=medial temporal lobe compresses ipsilateral CN III (blown pupil, down and out gaze) ipsilateral PCA (contralateral homonymous hemianopia) contralateral crus cerebri at the Kernohan notch (ipsilateral paresis: a "false localization" sign) |
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cerebellar tonsillar herniation into the foramen magnum |
coma and death result when these herniations compress the brain stem |
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