Pathoma Flashcards

1
Q

neural tube defects

A
  • associated with low folate levels prior to conception
  • elevated AFP in amniotic fluid and maternal blood
  • anencephaly: absence of skill and brain (cranial end disruption)
  • spin bifida: failure of posterior vertebral arch to close
    • occulta: dimple/patch of hair overlying defect
    • meningocele: protrusion of meninges
    • meningomyelocele: protrustion of meninges and spinal cord
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2
Q

cerebral aqueduct stenosis

A
  • congenital stenosis of channel that drains CSF from 3rd→ 4th ventricles
  • MCC of hydrocephalus in newborns
  • presents with enlarging head circumference due to dilation of ventricles; cranial suture lines are not fused
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3
Q

dandy-walker malformation

A
  • congenital failure of cerebellar vermis to develop
  • presents as massively dilated 4th ventricle with an absent cerebellum
  • often accompanied by hydrocephalus
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4
Q

arnold-chiari malformation

A
  • type I: no symptoms; post. fossa forms too shallow for cerebellum
    • associated with syringomyelia
  • type II: congenital downward displacement of cerebellar vermis and tonsils through foramen magnum→ obstruction of CSF flow→ hydrocephalus
    • associated with meningomyelocele
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5
Q

syringomyelia

A
  • cystic degeneration of spinal cord
  • arises with trauma or in association with arnold-chiari type I
  • C8-T1 location; ant. white commisure of spinothalamic tract with sparing of dorsal column
    • cape like distribution: loss of pain and temperature, sparing of fine touch and proprioception in upper extremeties
  • syrinx expansion→ LMN of ant. horn (muscle atrophy/weakness) and lateral horn of hypothalamospinal tract (horner syndrome)
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6
Q

poliomyelitis

A
  • damage to ant. motor horn due to poliovirus infection
  • LMN signs (flaccid paralysis with muscle atrophy, fascicuations, weakness and decreased tone, impaired relfexes)
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7
Q

werdnig-hoffman disease (SMN-1)

A
  • AR; degeneration of ant. motor horn
  • presents as floppy baby; death in a few years
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8
Q

amyotrophic lateral sclerosis (ALS)

A
  • degenerative disorder of UMN and LMN of corticospinal tract
    • ant. motor horn: LMN signs
    • lateral corticospinal tract: UMN signs
  • atrophy and weakness of hands is early sign
  • lack of sensory impairment (no loss of pain/temp distinguishes from syringomyelia)
  • most cases are sporadic; average age is 60yrs
    • zinc-copper SOD1 present in some cases (ROS injury neurons)
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9
Q

friedreich ataxia

A
  • AR; degeneration of cerebellum and spinal cord (post. columns, distal CST, spinocerebellar)
    • ataxia
    • loss of vibratory sense and proprioception, muscle weakness in lower extremities, loss of deep tendon reflexes
  • due to expansion of trinucleotide repeat in frataxin gene (essential for mitochondria Fe regulation; loss results in Fe buildup→ ROS)
  • associated with hypertrophic cardiomyopathy
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10
Q

meningitis

A
  • MC due to infectious agent
    • neonates: group B strep, e. coli, listeria
    • kids/teens: n. meningitidis, coxsackie
    • nonvacc. infants: flu
    • adults/elderly: strep pneumo
    • immunocompromised: fungi
  • headache, nuchal rigidity, fever; photophobia, vomiting, AMS
  • diagnosis by LP (between L4&5 at iliac crest; cross skin ligaments, epidural space, dura, and arachnoid NOT pia)
    • bacterial: neutrophila with low glucose
    • viral: lymphocytes and normal glucose
    • fungal: lymphocytes with low glucose
  • complications due to bacteria (death due to herniation, sequlae related to fibrosis)
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11
Q

global cerebral ischemia

A
  • etiologies
    • low perfusion (atherosclerosis)
    • acute decrease in blood flow (cardiogenic sock)
    • chronic hypoxia (anemia)
    • repeated episodes of hypoglycemia (insulinoma)
  • mild→ transient confusion with prompt recovery
  • moderate→ infarcts in watershed areas and damage to vulnerable regions (cerebral cortex 3, 5, 6; hippocampus; purkinje of cerebellum)
  • severe→ diffuse necrosis, survival in vegetative state
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12
Q

ischemic stroke

A
  • regional ischemia→ focal neurologic deficits lasting >24 hrs (<24hrs= transient ischemic attack)
  • subtypes: thrombotic, embolic, lacunar
  • results in liquefactive necrosis
    • red neurons (dead) are early microscopic findings
    • necrosis (24 hrs) infiltration by neutrophils (day 1-3), and microglial cells (day 4-7), and gliosis (weeks 2-3)
    • fluid filled cystic space surrounded by gliosis
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13
Q

thrombotic stroke

A
  • due to rupture of atherosclerotic plaque
  • results in pale infarct at periphery of cortex
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14
Q

embolic stroke

A
  • due to thromboemboli (MC source is L heart, e.g., due to afib)
  • usually involves middle cerebral artery
  • results in hemorrhagic infarct at periphery of cortex
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15
Q

lacunar stroke

A
  • occur secondary to hyaline arteriolosclerosis (complication of HTN or diabetes)
  • MC involves lenticulostriate vessels→ small cystic areas of infarction
  • internal capsule: pure motor
  • thalamic involvement: pure sensory
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16
Q

intracerebral hemorrhage

A
  • bleeding into brain parenchyma
  • classically due to rupture of charcot-bouchard microaneurysms of lenticulostriate
    • complication of HTN
    • basal ganglia is MC site
  • presents as severe headache, N/V, eventual coma
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17
Q

subarachnoid hemorrhage

A
  • bleeding into subarachnoid space
  • sudden headache (worst ever) with nuchal rigidity
  • LP: xanthochromia (yellow due to BR)
  • MC due to ruptured berry aneurysm (saccular outpouchings that lack media; occur at branch points of ant. communicating artery)
  • associated with Marfan’s and AD PCKD
18
Q

epidural hematoma

A
  • blood between dura and skull
  • classically due to fracture of temporal bone with rupture of middle meningeal artery→ high pressure bleed→ medical emergency (burr hold to evacuate)
    • herniation is lethal complication
19
Q

subdural hematoma

A
  • collection of blood underneath dura
  • due to tearing of bridging veins, usually due to trauma
    • increased rate in eldery/alcoholics due to atrophy (brain shrinks and veins are stretched)
20
Q

brain herniation

A
  • displacement of brain tissue due to mass effect or increased ICP
  • tonsillar herniation: cerebellar tonsils→ foramen magnum; brain stem compression leads to cardiopulmonay arrest
  • subfalcine herniation: cingulate gyrus under flax cerebri; ant. cerebral artery leads to infarction
  • uncal herniation: temporal lobe uncus under tentorium cerebelli
    • compression of CN II→ eye is down and out, dilated pupil
    • compression of post. cerebral artery: infarction of occipetal lobe→ contralateral homonymous hemianopsia
    • rupture of paramedian artery→ brainstem hemorrhage
21
Q

leukodystrophies

A
  • mutations in enzymes needed for production/maintenance of myelin
  • metachromatic LKD: deficiency of arylsulfatase (can’t degrade myeline); AR
  • krabbe disease: deficiency of galactocerebrosidase; AR
  • adrenoleukodystrophy: impaired addition of coA to long chain fatty acids; x-linked
22
Q

multiple sclerosis

A
  • autoimmune destruction of CNS myeline and oligodendrocytes
    • MC CNS disease of young agults; MC in women; MC in regions away from equator
    • associated with HLA-DR2
  • presents with neurologic deficits with periods of remission: blurred vision, scanning speech, internuclear ophthalmoplegia
  • MRI: plaques (areas of white matter demyelination)
  • LP: increased lymphocytes, Ig with oligoclonal IgG bands, myelin basic protein
  • high dose steroids for acute treatment; IFNß slows progression
23
Q

subacute sclerosing panencephalitis

A
  • slowly progressing persistent infection of brain by measles→ debilitating encephalitis→ death
  • viral inclusions within neurons and oligodendrocytes
24
Q

progressive multifocal leukoencephalopathy

A
  • JC virus infection of oligodendrocytes
    • immunosuppression leads to reactivation of latent virus
  • rapidly progressive neurologic signs→ death
25
Q

central pontine myelinosis

A
  • focal demyelination of pons due to rapid IV correction of hyponatremia
  • occurs in severely malnourished patients (alcoholics, patients with liver disease)
  • presents as acute bilateral paralysis (locked-in syndrome, can’t move anything except eyes)
26
Q

alzheimer’s disease

A
  • degenerative disease of cortex; MCC of dementia
  • slow-onset memory loss (short term then long term) and progressive disorientation
    • early onset: familial cases (presenilin 1 and 2 mutations) and down syndrome
  • 95% are sporadic and seen in elderly
    • e4 allele of APOE associated with increased risk, e2 associated with decreased risk
  • cerebral atrophy with narrowing gyri, widening sulci, dilation of ventricles
  • neuritic plaques: extracellular core of AB amyloid with entangled neuritic processes; congo red stain
  • neurofibrillary tangles: intracellular aggregates of fibers of hyperphosphorylated tau
27
Q

vascular dementia

A
  • multifocal infarction and injury due to HTN, atherosclerosis, or vasculitis
  • 2nd MCC of dementia
28
Q

pick disease

A
  • degenerative disease of frontal and temporal cortex (occipetal and parietal sparing)
  • characterized by round tau aggregates (pick bodies) in cortex
  • behavioral and language symptoms→ dementia
29
Q

parkinson disease

A
  • degenerative loss of dopaminergic neurons in substantia nigra of basal ganglia (specifically pars compacta)
    • nigrostriatal pathway normally initiates movement
    • loss of pigmented neurons in substantia nigra
    • lewy bodies: eosinophilic inclusions of a-synuclein
  • TRAP: Tremor, Rigidity, Akinesia, Postural instability/shuffling gait
  • dementia later
    • early onset is suggestive of lewy body dementia (cortical lewy bodies)
30
Q

huntington’s disease

A
  • AD degeneration of GABAergic (inhibitory NT) in caudate nucleus of basal ganglia
    • anticipating (expansion of repeats during spermatogenesis
  • presents with chorea ~40→dementia and depression
31
Q

normal pressure hydrocephalus

A
  • increased CSF→ resulting in dilated ventricles→ stretch of corona radiata→ dementia
  • wet, wobbly, wacky
  • LP improves syptoms; treat with ventriculoperitoneal shunting
32
Q

spongiform encephalopathy

A
  • degenerative disease due to prior protein
  • normal a-helical PrPc; disease with conversion to ßpleated PrPsc
    • can’t degrade→ damages neurons and glial cells; creates more PrPsc from PrPc
  • CJD: MC; usually sporadic in elderly but can arise due to exposure to prion-infected human tissue; periodic sharp waves on EEG, death <1 year
  • vCJD: related to exposure to “mad cow”; younger patients
33
Q

MC CNS tumors in adults

A
  • glioblastoma multiforme
  • meningioma
  • schwannoma
34
Q

MC CNS tumors in children

A
  • pilocytic astrocytoma
  • ependymoma
  • medulloblastoma
35
Q

glioblastoma multiforme

A
  • high grade tumor of astrocytes (GFAP+)
  • MC primary malignant CNS tumor of adults
  • arises in cerebral hemisphere, usually crosses corpus collosum (butterfly lesion)
  • regions of necrosis surrounded by pseudopalisading tumor cells
  • ring enhancing lesion around area of necrosis
36
Q

meningioma

A
  • tumor of arachnoid cells; ER+ (more common in women)
  • MC benign CNS tumor of adults
  • round mass attached to dura; whorled pattern; psamomma bodies
  • tumor compresses but does not invade cortex→ seizures
37
Q

schwannoma

A
  • benign tumor of schwann cells (S-100+)
  • commonly involves CN VIII at cerebellopontine angle (loss of hearing and tinnitus)
  • bilateral tumors in NF2
38
Q

oligodendroma

A
  • malignant tumor of oligodendrocytes
  • calcified tumor in white matter
  • biopsy: fried egg appearance of cells, chickenwire capillaries
39
Q

pilocytic astrocytoma

A
  • benign tumor of astrocytes (GFAP+)
  • MC CNS tumor of children
  • cystic lesion with mural nodule, usually in cerebellum
  • enhancing lesion (NOT ring enhancing)
  • biopsy: rosenthal fibers; eosinophilic granular bodies
40
Q

medulloblastoma

A
  • malignant tumor, usually in kids
  • derived from granular cells of cerebellum (neuroectoderm)
  • biopsy: small round blue cells
  • grows rapidly, spread via CSF→ drop metastasis to cauda equina
41
Q

ependymoma

A
  • malignant tumor of ependymal cells (line ventricles)
  • MC arises in kids in 4th ventricle
    • may block CSF flow→ hydocephalus
  • biopsy: perivascular pseudorosettes
42
Q

craniopharyngioma

A
  • benign tumor of epithelial remants of Rathke’s pouch
  • supratentorial mass in child, may compress optic chiasm→ bitemporal hemianopsia
  • calcifications (derived from floor of mouth/tooth-like tissue)