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271 Cards in this Set
- Front
- Back
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what artery is associated with EPIdural hemorrhage?
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the middle meningeal artery
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what artery is associated with EPIdural hemorrhage?
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the middle meningeal artery
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what is the classic cause of EPIdural hemorrhage?
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trauma, skull fracture(temporoparietal bone fracture due to hammer or baseball bat).
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who are at increased risk of EPIdural hemorrhage?
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anti coagulant meds
people who fall often heavy alcohol consumption elderly very young |
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what is the classic presentation of EPIdural hemorrhage?
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lucid intially followed a short time later by unconsiousness.(skier example)
fixed, dilated(blown) pupil on side of injury eye turned down and out loss of visual fields on opposite side of lesion (compressed PCA) respiratory arrest(if uncal herniation) |
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what is the CT result in EPIdural hemorrhage?
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conve in shape due to expansion being limited by skull sutures(biconvex lens)
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what is a classic symptom of uncal herniation?
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respitatory arrest
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what will be seen on autopsy for EPIdural hemorrhage
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Bleeding located above the dura matter. Compression of brain tissue may be seen.
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what is the vessel damage associated with subdural hemorrhage
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bridging veins
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what is the clinical presentation of subdural hemorrhage?
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Confused speech, difficulty walking, headache, nausea, vomiting, loss of consciousness, numbness, seizures, slurred speech, visual disturbances.
Gradually increasing headache and confusion. |
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what is the CT results in subdural hemorrhage?
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cresent shaped
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what are the three most common causes of subarachnoid hemorrhage
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1. arterial aneurysm berry
2. AV malformation 3. atherosclerotic aneurysms |
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what is the most common site for berry aneurysm?
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biforcation of the anterior cerebral artery
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what the cause of berry aneurysm
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congential defect of the vessel wall, with abscence of media of the vessel.
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what is the clinical presentation of subarachnoid hemorrhage?
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sudden onset of severe occipital headache
patient states "worst headache Ive ever had" nuchal rigidity(stiff neck) |
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what are the results of subarachnoid hemorrhage
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50% mortality
further hemorrhage hydrocephalus due to blockage of arachinod granultarions, blocked foramina, permanent neuro damage |
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what is a common feature found in CSF with subarachnoid hemorrhage
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blood int he CSF is broken down to bilirubin pigment and may color CSF yellow(xanthochromia)
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what are the most common causes of intraparenchymal hemorrhage(hemorrhagic stroke)
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hypertensive damage. most common
autoregulatory dysfunction with excessive cerebral blood flow(reperfusion injury/cold exposure) ruptured anuerysm AV malformation altered areteriopathy altered hemostasis hemorrhagic necrosis venous outflow obstuctions cerebral venous sinus thrombosis vasculitis sickle cell infection cranial trauma |
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what is the major site of damage in hemorrhagic stroke?
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basal ganglia
thalamus pons cerebellar hemispheres |
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what is the most common site of vessel damage in hypertensive type hemorrhagic stroke?
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branches of lenticulostriate vessels
Charcot bouchard macroanuerysm |
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what is the typical presentation of hemorrhagic stroke
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HTN, fever, cardiac arrhythmias, nuchal rigidity, retinal hemorrhages, altered level of consciousness, anisocoria, nystagmus.
various neuro signs depending on site of damage |
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what are the two types of cerebral edema
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vasogenic
cytotoxic both are usually present in generalized cerebral edema |
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what is vasogenic cerebral edema?
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due to BBB disruption and increased vascular permeability, so fluid shifts from intravascular compartment to intercellular spaces of brain.
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what are the common causes of vasgenic cerebral edema
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Common causes... inflammation, neoplasms, trauma, lead-poisoning.
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what is cytotoxic cerebral edema
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fluid accumulates in intracellular compartment of brain, secondary to neuronal, glial, or endothelial cell-membrane injury (dysfunctional Na/K ATPase pumps).
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what are the common causes of cytotoxic cerebral edema
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Common causes... generalized hypoxic/ischemic insult, metabolic damage, electrolyte imbalance.
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what are the clinical presentation of cerebral edema
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Signs of increased intracranial pressure: papilledema: swelling of optic disk; headache, PROJECTILE VOMITING WITHOUT NAUSEA, HTN, sinus bradycardia, potential for herniation.
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what is the gross appearacne of cerebral edema
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widening and flattening of the gyri and narrowing of the sulci
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what is the presentation of tonsiallr herniation?
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cardiorespiratory arrest
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what are the causes of communicating hydocephalus
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increased CSF production(choroid plexus papilloma)
obstuction occuring along the subarachnoid path of CSF flow int eh arachnoid granulations(postmeningitic scarring/tumor) |
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what is seen on CT with communicating hyrdocephalus
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dilated ventricles
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what is the difference in presenation btw adult and kids with communicating hydrocephalus
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newborns head circumference is enlarged
adults have no head enlargment |
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what is psudeotumor cerebri?
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Benign intracranial hypertension due to decreased CSF resorption in arachnoid granulations and eventual equilibriation occurs with inflow and outflow.
Increased intracranial pressure (papilledema), absence of tumor and obstruction to CSF flow |
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what are the most common risk factors for pseudotumor cerebri
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Most commonly seen in obese women of childbearing age.
Risk factors: All-trans-retinoic acid, hypothyroidism, Cushing disease, Isotretinoin, tamoxifen. |
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what is the clinical presentation of pseudotumor cerebri
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Headaches typical for increased intracranial pressure (worse w sneeze, straining, bending over, wake up with h/a, assoc with vomiting) and can also present w double vision due to CN VI paresis/palsy (wraps around from back of brain and more susceptible to increased pressure), rhythmic sound heard in one or both ears.
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what is the diagnostic indicators of pseudotumor cerebri?
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Dx: MRI showing flattening of posterior globe, Increased CSF pressure: CSF >300 mm H2O, decreased CSF protein
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what is normal pressure hydrocephalus
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dilated ventricals with no increase in intracranial pressure
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what is the clinical presentation of normal pressure hydrocephalus
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Wide-based gait and urinary incontinence due to stretching of sacral motor fibers near the dilated ventricle, dementia due to stretching of limbic fibers near the dilated ventricle.
WET, WACKY, WOBBLY |
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what is non communicating hydrocephalus
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Obstruction of CSF flow out of the ventricles due to stricture of aqueduct of sylvius
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what are the common causes of noncommunicating hydrocephalus
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tumor in the 4th ventricle (ependymoma, medulloblastoma), scarring at the base of the brain (tuberculous meningitis), colloid cysts in 3rd ventricle, developmental disorders. Blockage may occur anywhere along the ventricuar system
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what is a key clinical finding noncomunicating hydrocephalus
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parinuad's syndrome, paralysis of upward gaze
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what is hydrocephalus ex vacuo?
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dilated appearance of ventrcles due to loss of brain mass no increased inctranial or ventricular pressure
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what are the causes of hydrocephalus vacuo
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congenital malformation, neoplasm, hemorrhages, infection
seen in alzheimers |
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what is the clinical presentation of hydrocephalus ex vacuo
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headache, nasuea, vomiting , blurred vision
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what is lissencephaly?
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abnormal migration of neurons related to beta subunit platelet activating factor acetylhydrolase brain isoform during weeks 12-24.
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what syndrome is lissencephaly associated with?
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miller-dieker syndrome
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what are the causes of lissencephaly
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viral infections of the uteror or the fetus during first trimester
insufficient blood supply to the fetal brain early in preg many genetic causes |
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what are the genetics defects assoicated with lissencephaly
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mutation of REELIN gene
on CHROMOSOME 7 other defects on X CHROMOSOME CHROMOSOME 17 |
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what is the clinical presentation of lissencephally
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Psychomotor retardation, failure to thrive, seizures, hypotonia, muscle spasticity, anomalies of hands, toes, fingers, difficulty swallowing.
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what is the gross appearance of brain in lissencephally ?
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smooth brain with few to no gyri
prognosis is poor but can survive to teen with medications. |
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what is the primary problem in arnold chiari type 1
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elongation of cerebellar tonsils throught eh foramen magnum
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what is the clinical presentation of arnold chiari type 1
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late onset hyrocephalus (noncommunicating)
syringomyelia(cystic cavitatino of cervical spinal cord) platybasia(flattenting of the base of the skull often found by accident on exam |
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what is the primary problem in arnold chiari type 2
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displacement of cerebellar vermis combined with deformities of brainstem and spinal defects
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what is the the key feature found in arnold chiari type 2 that is not found on type 1
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myelomeningocele
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what is myelomenigocele
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a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord and its protective membrane to protrude through a sac-like opening in the back. A myelomeningocele usually results in partial or complete paralysis of the area below the spinal opening.
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what is the major cause of anencephaly
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neural tube defect often seen in folic acid deficit
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what is the clinical presentation of anencephaly
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frog face due to shallow orbit
absence of ganglion cells in the the retina hypplastic optic nerve maternal polyhydramnios increased alpha fetal protein ultrasound findings of absent cranial vault |
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what is hydrananencephaly
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Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid.
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what is the clinical presentation of hydrananencephaly
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The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits.
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what is meningocoele
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Meningocele: Herniation of the meninges through a defect in the cranium or vertebral column. The spinal cord is not herniated
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what is myelocoele
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Myelocoele: protrusion of the spinal cord through a defect in the vertebral column.
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what is meningmyelocoele
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Meningmyelocoele: both meninges and spinal cord herniated through a large vertebral defect. The spinal cord or nerve roots are frequently involved in the formation of the wall and the dorsal part of the spinal cord often remains open
elevated AFP |
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what is spina bifida?
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MENINGOCOELE, MYELOCOELE, MENINGOMYELOCOELE
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what is the presentation of spina bifida
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There is a large list of issues that arise from spina bifida. they include: incontinence, paralysis, lack of feeling in arms, legs, feet, weakness in knees, ankles and feet, motor difficulties in arms and hands
Excess fluid on the brain can also lead to: Concentration problems, forgetfulness, motor disabilites |
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what is spina bifida occulta
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Mildest form: spina bifida without clinical abnormalities. This is a verterbral arch defect usually limited to a localized area of the vertebral column.
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what is the clinical features of spina bifida occulta?
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Elevated alpha fetal protein
Hairy patch on the skin, Dark spots or birth marks, A red or purple spot on the back composed of blood vessels, Dimpling in the back, An area that has less skin color than other areas |
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what is the area cerebrovasculosa?
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primitive neuroglial tissue elements with irregular vascular proliferation
found in anencephaly |
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what is Agenesis of the corpus callosum often associated with
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lipomas
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what is a typical feature of agenesis of corpus callosum?
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abnormal lateral ventricle shape left is slightly bigger batwinged appearence of upsweepign ventricles
cingulate gyrus often malformed as well |
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what is a transient ischemic attack?
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Episodes of impaired neurologic function caused by temporary disturbances in cerebral circulation usually due to microembolization of plaque material. Precursors to future strokes.
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what is clinical presentation of TIA
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Lasts less than 24 hours: visual loss, paresthesias, hemiparesis, loss of speech.
Abnormal feeling of movement (vertigo) or dizziness, change in alertness (sleepiness, less responsive, unconscious, or in a coma), changes in feeling, including touch, pain, temperature, pressure, hearing, and taste, Confusion or loss of memory, difficulty swallowing, difficulty writing or reading, inability to recognize objects or people, lack of control over the bladder or bowels, Lack of coordination and balance, clumsiness, or trouble walking, muscle weakness of the face, arm, or leg (usually only on one side of the body), Numbness or tingling on one side of the body, personality, mood, or emotional changes, problems with eyesight (double vision, loss of all or part of vision), trouble speaking or understanding others who are speaking |
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what are the arteries most often associated with ischemic stroke?
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MCA
internal carotid ACA |
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what is amaurosis?
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temporary loss of vision due to embolization of material to bifurcation of retinal arteries (Hollenhorst plaque)
seen in schemic stroke |
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how is ischemic stroke worked up
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CT scan without contrast is best imaging for distinguishing between hemorrhagic and nonhemorrhagic. MRI is useful for identification of posterior fossa infarction.
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what is the pathologic findings in ischemic stroke?
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Pale infarcts with liquefactive necrosis.
Wedge shaped necrosis with pale infarction at the periphery of cerebral cortex, swelling of the brain with loss of demarcation between gray and white matter, myelin destruction, gliosis (proliferation of astrocytes at margins of infarct), microglial cells remove lipid debris. Cystic area develop after 10 days- 3 weeks (liquefactive necrosis |
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where do most emoli aries?
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left side of the heart
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differentiate btw coritcal and subcortical strokes
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A cortical stroke occurs when the blood supply to the outside, or cortex, of the brain is reduced or blocked, which results in brain damage.
Strokes affecting the cerebral cortex (i.e. cortical strokes) classically present with deficits such as neglect, aphasia, and hemianopia. Subcortical strokes affect the small vessels deep in the brain, and typically present with purely motor hemiparesis affecting the face, arm, and leg. |
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what areas of the brain are most susecptible to damage during global hypoxic/ischemic injury
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Pyramidal cells in CA1 of hippocampus, purkinje cells of the cerebellum, cerebral cortex neurons in layers 3,5, 6, and cortical pyramidal neurons, are the most susceptible to global ischemia.
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what is the pathologic findings in global hypoxic brain injury 12-24 hours after
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Early 12-24 hours: red neurons, microvascuolization, eosinophilia of cytoplasm with later nuclear pyknosis and karyorrhexis.
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what is the pathologic findings in global hypoxic brain injury 24 hours to 2 weeks after
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Subacute 24 hours to 2 weeks: necrosis of tissue, influx of macrophages, vascular proliferation, reactive gliosis.
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what is the pathologic findings in global hypoxic brain injury greater than 2 weeks after
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Repair >2 weeks: removal of necrotic tissue, loss of CNS structure, gliosis and neuronal loss cause an uneven destruction of the neocortex. Pseudolaminar necrosis. CYST formation.
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what are the classic symptoms of a watershed infarct?
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: FAST (stroke), representing F = Facial weakness (droop), A = Arm weakness (drift), S = Speech difficulty (slur), and T = Time to act (priority of intervention).
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where are the major watershed areas of the brain?
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cortical border zone- btw ACA and MCA
internal border zone- btw ICA and MCA cortical border zone- btw MCA and PCA |
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what is the dandy walker malformation?
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Agenesis of vermis and cystic dilation of 4th ventricle. May see obstruction of the foramina of Megendie and Luschka.
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what is the clinical presentation of dandy walker malformation
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Mental retardation in 71% of patient, non-communicating hydrocephalus.
Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns. |
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what are the pathologic findings in dandy walker malformation
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Cyst-like dilation of 4th ventricle, abnormal cerebellar vermis, elevated tentorium cerebelli, lateral and transverse sinuses and torcula; enlarged posterior fossa, hydrocephalus.
3 MC: abnomal or agenesis of cerebellar vermis, cystic dilation of 4th ventricle, enlargement of posterior fossa. |
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what is the pathology behind lacunar infarcts
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Due to processes leading to narrowed deep basal perforating arteries (segmental/hyaline areteriosclerosis) associated with hypertensive cerebral microvascular disease.
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what is the main cause of hemorrhage in young adults?
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arterio venous malformation
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where are colloid cysts located
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in the 3rd ventricle often associated with blocking the foramen monro leading to noncomunicating hydrocephalus
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what is cortical hamartoma associated with
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tuberous sclerosis
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what is the appearance of a hamartoma
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Firm areas of cortex that look like potatoes. Composed of haphazardly arranged neurons that lack the normal laminar organization of neocortex. Often project into ventricle-astrocyte proliferations in subependyma.
Stains for hamartin and tuberin. |
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what is the cell line of dysembryolplastic neuroepithelial tumor?
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astrocyte tumor
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what is dysembryoplastic neuroeptithlial tumor associated with
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NF1
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what are the symptoms of dysembryoplastic neuroeptithelial (DNET)tumor
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long standing seizures
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what is the hallmark of DNET
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specific glioneuronal element,” which is characterized by columns formed by bundles of axons lined by small S-100(+) and GFAP(-) oligodendroglia-like cells oriented perpendicularly to the cortical surface.
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Features of the dysembryoplastic neuroepithelial tumor that are useful in making the distinction include
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a multinodular and multicystic appearance, the presence of both neuronal and glial (oligodendrocytic and astrocytic) components with little if any cytologic atypia,
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what is the prognosis of DNET
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curable by excision
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what condition is associated with adult tumors of the spinal cord?
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NF2
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what is seen on EM with ependymoma
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junctinonal complexes microvilli and cilia witha 9+2 arrangment no basement membrane present
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what is a marker that is positive in ependymoma
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GFAP
glial fibrial protien |
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what is seen on micro for ependymoma
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perivascular pseudorosettes(clear area with no nuclei around vessels)
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what are the WHO grades for ependymoma?
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grade 1-myxopapillary ependymoma and subependymoma
grade 2- ependymoma with cellular papillary and clear cell varients grade 3- anaplastic ependymoma |
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what is a common feature of gangliocytoma
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chronic intractable siezure
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qhat is a common histologic finding in gangliocytoma?
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calcification is common
solid or cystic tumor that are well demarcated |
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what is the prognosis for gangliocytoma
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sugrically resectable
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what is the major gentic finding in the classic subtype of the glioblastoma multiforme?
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increased epidermal growth factor receptor(EGFR)
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what are ependymoma and where are they commonly found?
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Benign tumor derived from ependymal cells seen in 4th ventricle in children and in cauda equina in adults. Tumors in adults in spinal cord
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what condition is associated with adult tumors of the spinal cord?
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NF2
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what is seen on EM with ependymoma
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junctinonal complexes microvilli and cilia witha 9+2 arrangment no basement membrane present
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what is a marker that is positive in ependymoma
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GFAP
glial fibrial protien |
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what is seen on micro for ependymoma
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perivascular pseudorosettes(clear area with no nuclei around vessels)
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what are the WHO grades for ependymoma?
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grade 1-myxopapillary ependymoma and subependymoma
grade 2- ependymoma with cellular papillary and clear cell varients grade 3- anaplastic ependymoma |
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what is a common feature of gangliocytoma
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chronic intractable siezure
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qhat is a common histologic finding in gangliocytoma?
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calcification is common
solid or cystic tumor that are well demarcated |
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what is the prognosis for gangliocytoma
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sugrically resectable
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what is the major gentic finding in the classic subtype of the glioblastoma multiforme?
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increased epidermal growth factor receptor(EGFR)
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what is the common genetic finding in glioblastoma multiforme proneural type?
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increase TP53
PDGFRA and IDHI |
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what is the common genetic finding in the mesenchymal subtype of glioblastoma multiforme?
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alterations int eh NF1 gene
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what is the most common symtoms of glioblastoma multiforme
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progressive memory, personality or nuorlogical deficits due to temporal and frontal lobe damage
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what the major CT findings in gliobalstoma multiforme
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ring enhancing lesions
butterfly lesion around the corpus callosum |
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what is the cell type involved in glioblastoma multiforme?
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high grade astrocytoma
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what is a common histologic finding in glioblastoma multiforme
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pseudopalisading tumor- cells border central areas of necrosis and hemorrhage.
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what is the grade of glioblastoma multiforme?
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grade IV poor prognosis
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what are the examples of glioma
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ependymomas
astrocytoma oligodendrogliomas |
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what are common findings in gliomas
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P53 mutations
EGFR is elevated |
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what location is expected finding of glioma?
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infratentorial in children
supratentorial in adults |
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what is gliomatosis cerebri?
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multiple lesions in the brain are infiltrated by neoplastic astrocytes
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what is the typical finding on imaging in gliomatosis cerebri?
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Typically, gliomatosis cerebri appears as a diffuse, poorly circumscribed, infiltrating non-enhancing lesion that is hyperintense on T2-weighted images and expands the cerebral white matter. It is difficult to distinguish from highly infiltrative anaplastic astrocytoma or GBM
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what is the difference in glimatosis type 1 and 2?
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Type I gliomatosis is the classical lesion characterized by diffuse neoplastic growth and enlargement of the involved structures, without the formation of a circumscribed tumor mass. Type II gliomatosis is associated with the presence of an obvious neoplastic mass in addition to the diffuse tumor
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what is hemangioblastoma?
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benign tumor composed of capillaries and lipid ladne enterstitial and stromal cells primarily in paramedain areas of the cerebellum
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what is hemangioblastoma associated with
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von hippel lindau disease
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what can be produced by a hemagnioblastoma?
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erythropoitin
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what is the prognosis of hemangioblastoma?
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very good surgical extraction in sporadic cases but less good in VHL patients due to presence of multiple lesions
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where do meningioma usually arise from
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arachoind cap cells
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what is meningioma associated with?
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NF 2
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what is the key histo feature of meningioma?
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whorl with central psammomatous calcifications
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what are the more aggressive subtypes of meningioma?
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papillary and rhabdoid
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what is a genetic feature of meningioma
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deletion of 22
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where are medulloblastoma usually found?
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posterioro fossa and cerebellum midline affecting vermis and leading to obstuction
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what is the classic histo finding in medulloblastoma?
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homer wright rosettes-tumor cells dark staining surround red area
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what is a common genetic finding in medulloblastoma?
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isochrome 17q leading to cmyc amplifiaction
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what does oligodendroglioma develop from?
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myelin producing cells
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where are oligodendroglioma found
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int eh cerebral hemisphere white matter usually in frontal lobes
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what is the typical histo appearance of oligodendroglioma
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fired egg cells, often calcified with chicken wire capillaries
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what is the genetic finding in olidgodroglioma, and what does that indicate
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deletion of 1p and 19q subtypes have good prognosis
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what differentiates WHO grade II from grade III oligodendroglioma?
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WHO III has increased pleomorphism, increased mitotic activities, and endothelial proliferation
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what is the most common benign pediatric intracranial tumor?
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pilocytic astrocytoma
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where are pilocytic astrocytoma most often found?
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optic never
or hypothalamus posterior fossa |
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what is pilocytic astrocytoma associated with ?
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NF1
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what are lesion of the posterior fossa most often associated with?
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vomiting
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what it he main histo feature present in pilocytic astrocytoma?
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rosenthal fibers - fibrillary sturctire that look like hari with low mitoic acitivity
GFAP positive |
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wwhat is the prognosis of pilocytic astrocytoma?
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benign can be cured by resection alone
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where do pleomorphic xanthoastrocytoma usually arise?
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supratentorial, superficially from teh cerebral hemispheres upper most sections often in temporal, frontal or pariateal lobes
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what is the common histo feature of pleomorphic xanthoastrocytoma?
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reticulin deposits
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what is a plexiform firbroma?
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plexiform enlargement of major nerve trunk benign with primary cell feature of schwann cells
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what is the main histo feature of plexiform firbroma
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interlacing bundles of collagen(shredded carrot appearance)
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what are the risk factors for primary brain lymphoma?
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immunocomprimised
SCID, Wisckott=aldrich, solid organ transplant, HIV |
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what is primary brain lymphoma associated with
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EBV
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what is seen in staining for primary brain lymphoma?
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CD20, CD19/22/79a
ring enhancing lesions |
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where are primary brain lymphoma usually found
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cerebrum, lateral and 3rd ventricle
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what is seen on histo for primary brain lymphoma
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periascular clustering of anapplastic lympohocyte in the virchow robin space
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what is the most common tumor of the brain?
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metastatic brain tumor
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where do metastatic brain tumor usually arrise from?
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lung, breast, skin, kidney, GI, and thyroid.
hemorrhagic types most common from lung, kidney, skin, or choriocancinoma |
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is schwannoma benign or malignant?
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benign
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what is positive in schwannoma?
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S100
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what are the most common nerves affected in schwannoma?
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trigeminal and acoustic with CNVII most prominent
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what is the histo of schwannoma?
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alternating dark and light areas, palisading arrangment with verucay bodies in antoni A area.
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what are often associated with lacunar infarcts
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HTN and diabetes
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where are lacunar infarcts usually located
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basal ganglia or pons
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what is the size of most of the lacunar infracts
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microscopic infarcts most less than 1cm
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what are the main sites of sacullar (berry) aneurysm
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(1/3 at internal carotid artery termination,
1/3 on anterior communicating artery or anterior cerebral artery, 1/3 at first main branch of middle cerebral artery) |
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what is saccular(berry) aneurysm associated with?
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ADPKD, cerebral arterio-venous malformations, moyamoya, coarction of aorta, fibromuscular dysplasia, Ehler’s-Danos type IV and VI, Marfan’s, neurofibromatosis type I.
HTN is important factor as well as cocaine use. |
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what is NEUROFIBROMATOSIS-1
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Pleiotropic congenital multiple dysplasia syndrome characterized by multifocal hyperplasia and neoplasia.
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what is NF1 also known as ?
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NF1 is the ““true”” von Recklinghausen's disease.
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what is the genetic defect in NF1
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AD deletion of neurofibromin gene on chromosome 17
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what is the clinic presentation of NF1
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cafe-au-lait macules
neurofibromas multiple freckles, optic nerve gliomas, and iris hamatomas (Lisch nodules), mild scoliosis |
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what is seen on MRI in NF1
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MRI: unidentified bright objects. multiple
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what is the a pt with NF1 at increased risk for?
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200 fold increase in risk of CML. Increased risk of NHL, lymphoblastic leukemia, carcinoma of ampulla of Vater, neuroblastoma, pheochromocytoma, malignant transformation of neurofibrom to peripheral nerve sheath tumor.
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what is the usual pathologic finding in NF1
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Glioma (particularly in optic tract-hypothalmus area) and hamartomatous glial proliferation.
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what is the gene issue in NF2
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AD chromosome 22 (encodes merlin which has a structure similar to cytoskeletal proteins). Central problem.
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what is often found in NF2 that can be used to differentiate it from NF1
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Often has bilateral schwannomas
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what is the cardinal feature found on pathology for NF2?
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The cardinal features of neurofibromatosis are multifocal focal hyperplasia and neoplasia in the supportive tissue throughout the entire nervous system.
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what is tuberous sclerosis?
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Systemic disease with brain as the most frequent organ affected, but can also affect eyes, skin, kidneys, heart, bone
characterized by the presence of tubers |
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what are tubers?
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collections of large bizarre glial cells that are not neoplastic and do not become neoplastic.
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what is the inheritance pattern for tuberous sclerosis?
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Autosomal dominant with very high penetrance. Occurrence of affected siblings with apparently
unaffected parents is extremely rare |
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what is the gene associated with tuberous sclerosis?
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TSC1 gene on chromosome 9q34 (gene product is hamartin) and TSC2 gene (gene product is tuberin) on chromosome 16p13.3 are involved.
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what is tuberous sclerosis accocitated with?
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Associated with astrocytomas, cardiac rhabdomyomas, and facial angiofibromas,
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what is the clinical presentation of tuberous sclerosis?
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can present as seizures (in first few months of life)
Clinically it is characterized by seizures, mental retardation and adenoma sebaceum (after 2 years of age). Hypopigmented skin lesions (ash leaf) seen with wood’s lamp Flesh colored papules on the face (adenoma sebaceum) and in the nail beds (ungula fibromas), on the trunk (shagreen patches) Sturge-Webber syndrome |
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what is seen on path for tuberous sclerosis?
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Harmartomatous lesions
Supependymal giant cell astrocytomas(this is pathognomonic) Cortical tuber |
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what is Sturge-Webber syndrome
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somatic mosaicism or sporadic with vascular malformation on the face in the area of trigeminal nerve distribution , with some patients having AV malformation
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what are harmartomatous lesions?
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angiomyolipoma in kidney, astrocyte proliferation (looks like candlestick dirppings) in ventricles.
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what is defect asociated with von hippel lindau?
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AD deletion of tumor suppressor gene on chromosome 3
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what is found in a pt with von hipple lindau?
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Hemangioblastoma, retinal hemagioblastomas, pheochromocytomas, cysts in the kidney and pancreas, bilateral renal cell carcinoma, bilateral papillary cystadenoma, hepatic cysts, endolymphatic sac tumor.
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what is the defect with ataxia-telangiectasia?
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Mutation in DNA repair enzymes with thymic hypoplasia.
Autosomal Recessive |
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what is presentation of ataxia-telangiectasia?
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Cerebellar ataxia, telangiectasias of eyes and skin.
Increased serum alpha fetoprotein, decreased IgA, IgE, IgM low molecular weight variety, IgG total and decreased T cell function. |
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what is a key indicator to make you suspicious of ataxia telagiectasia?
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high serum alpha fetoprotein with signs of ataxia
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what is found pathologically in ataxia telagiectasia?
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Histo: loss of Purkinje and granule cells in cerebellum, degeneration of the dorsal columns, spinocerebellar tracts, and anterior horn cells. Telangiectatic lesions in CNS as well as skin of face, neck and arms, and in conjunctiva. Cells shows enlargement of nucleus to 2-3 times normal (amphicytes). Hypoplastic gonads, thymus and lymph nodes.
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what is a pt with ataxia telagiectasia at increased risk for?
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Increased risk of lymphoma, leukemia and adenocarcinoma
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what is the inheritance pattern seen in werdnig-hoffman syndrome?
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autsomal recessive
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what is werdnig hoffman syndrome?
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AR Lower motor neuron disease that occurs in children
Spinal muscular atrophy. Progressive neurologic illnesses that selectively destroy anterior horn cells and cranial nerve motor neurons. |
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what is the presentation of werdnig hoffman?
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It is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Symptoms include floppiness of the limbs and
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what is the genetic defect of werdnig hoffman
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Associated with mutation of SMN1 on chromosome 5: a protein critical for normal axonal transport and integrity of NMJs
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what is the intellegence level of werdnig hoffman child?
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normal intelligence
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what are the most difficult and dangerous symptoms of werdnig hoffmans?
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swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand unassisted and will require respiratory support to survive before the age of 2. Other symptoms include:
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what are werdnig hoffman kids at risk for?
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They are constantly at risk of respiratory infection and pneumonia. Feeding difficulties make it a real challenge for parents to give their children adequate nutrition and supplemental feedings may be required.
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what is the gene defect in duchenne muscular dystrophy?
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X linked recessive (X-21) dystrophic myopathy (lack of dystrophin
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what is the normal function of dystrophin?
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dystrophin, which normally anchors actin to membrane glycoprotein) leading to defects in the extracellular matrix and sarcolemma.
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what is the presentation of duchenne muscular dystrophy
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Muscle weakness beginning in the legs and pelvis with onset before three years and progressive loss of ambulation by 11 years.
Waddling gait Gower's maneuver Enlarged calf muscles Respiratory disorders |
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what is an important blood test in ducheen muscular dystrohpy?
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Very high serum creatine kinase that declines as muscle degenerates. Female carriers have increase CK levels.
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what is gowers maneuver?
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Child places hands on the knees for help in standing.
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what is the path findings in duchenne muscular dysrophyy?
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Necrotic fiber, regenerating fiber, interstitial fibrosis (fibrosis around individual muscle fiber). In advanced stage, the bulk of the muscle is replaced by mature adipose tissue and fibrous tissue which is the basis for pseudohypertrophy.
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how do u differentiate beckers muscular dystrophy from duchenne's
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becker's is much slower progression
beckers has Abnormally developed bones, leading to deformities of the chest and back (scoliosis), Abnormality of heart muscle function (cardiomyopathy), Congestive heart failure or irregular heartbeat (arrhythmias) |
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what is the cause of parkinson disease
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Degeneration/depigmentation of neurons in substantia nigra leading to deficiency of dopamine.
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what are found in the lewy bodies of a person with parkinsins?
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Lewy bodies are positive for alpha-synuclei
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what are the symptoms of parkinsins
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Muscle rigidity
pill rolling tremor shuffling gait bradykinesia expressionless face |
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what is found in the neurons of someone with parkinsons
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Neurons contain intracytoplasmic, eosinophilic bodies called Lewy Bodies
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what is the finding in parkinsins on path
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Hypopigmented substantia nigra.
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what is the main cause of Alzheimers
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beta amyloid protein (Aß: a metabolic protein of APP) that is neurotoxic and deposits in the wall of cerebral vessels leading to amyloid angiopathy
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what is Alzheimer pt at increased risk of due to the amyloid angiopathy?
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amyloid angiopathy (causing weakening of vessels with an increased risk of hemorrhage).
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what creates the tangles seen in Alzheimers
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Activated GSK also enhances hyperphosphorylation of tau proteins--> clustering into fibers (Neurofibrillary tangles in the cytoplasm).
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what is the gene invovled in sporadic early onset alzheimers?
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Apolipoprotein E (allele E4):
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what is the gene invovled in familial early onset alzheimers
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amyloid precursor protein (APP: chromosome 21) and presenilin 1 on chromosome 14 and presenilin 2 on chromosome 1.
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What is the most common type of alzheimers
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sporadic late onset
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what groups of people have increased risk for alzheimers other than those genetically predisposed?
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Insulin resistance syndromes (T2DM, metabolic syndrome) are at increased risk because increased insulin leads to lower insulin degrading enzyme leading to increased Aß.
Trisomy 21 has strong association with AD. |
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what is MOA of brain damage by beta amyloid
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Activated glycogen synthase kinase 3-ß causes phosphorylation of Aß leading to neuronal and synaptic dysfunction and signaling of apoptosis. Phosphorylated Aß has positive feedback on GSK.
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why is GSK abnormally activated in alzhiermers?
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GSK activated by dysfunction within the Wingless integration pathway: normally involved in neuronal development during embryogenesis; usually inactivates GSK
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what are the early signs of alzheimers?
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Prominent early sign is the decline in short term memory and loss of smell(dysfunction of entorhinal cortex).
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what is the diagnosis of alzhiemers?
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counting senile plaques and tangles in certain parts of brain.
Aß stains congo red and has apple-green birefringence. Silver staining of NF tangles usually post mortem |
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what is the prognosis for alzheimers
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Prognosis: most patients die of infection
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what are the hirano bodies, where are they usually seen and what are they associated with when increased?
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Hirano bodies (Brightly eosinophilic rod-shaped or elliptical cytoplasmic inclusions that may appear to overlap the edge of a neuron. They are most numerous in the CA1 region of the hippocampus. Increase in number of Hirano bodies is seen in Alzheimer’’s disease, Pick’’s disease, and Guam parkinsonism-dementia complex).
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what are the pathologic findings in alzheimers?
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Atrophy over the cortex with thin gyri and widened sulci in frontal, temporal and parietal lobes, hydrocephalus ex vacuo, neurofibrillary tangles in cytoplasm of neurons especially in hippocampus, amygdala and forebrain, neuritic senile plaques (cores of Aß surrounded by neuronal cell processes containing tau protein, microglial cells, and astrocytes located in the gray mater). in hippocampus and cerebral cortex, granulovacuolar degeneration
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what is gene defect in huntingtons disease?
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AD disease due to trinucleotide repeat (CAG) in chromosome 4.
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what is the damage in the brain in huntingtons
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Atrophy of striatal neurons (caudate, putamen, globus pallidus)
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what is the presentation of huntingtons?
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Delayed appearance until 30-40 years of age. Chorea, oculomotor abnormalities, parkinsonism in later stages, depression.
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how is huntingtons diagnosed?
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Dx: CT/MRI showing atrophy of caudate and putamen.
based on symtoms history and gene studies |
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what is the main finding on path for huntingtons?
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Progressive degeneration of caudate, putamen and globus pallidus with dilation of lateral ventricles.
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what is genetic defect in friedrich ataxia?
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AR trinucleotide repeat disorder (GAA) with frataxin deficiency leading to impaired mitochondrial iron homeostasis with cells more prone to apoptosis.
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what is friedrich ataxia associated with?
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Associated with hypertrophic cardiomyopathy and T1DM.
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what is presentation of freidrich ataxia?
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Progressive gait ataxia, loss of deep tendon reflexes (initially at the ankles), loss of vibratory sensation and proprioception, muscle weakness in legs.
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what is seen on MRI for friedrich ataxia?
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: MRI showing spinal cord atrophy
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what is the path finding for friedrich ataxia?
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Degeneration in dorsal root ganglia, posterior columns, spinocerebellar tract, lateral corticospinal tracts, large sensory peripheral neurons.
Heart is enlarged and may show pericardial adhesions. |
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what is Amylotrohpic lateral sclerosis?
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Degenerative disease involving upper and lower motor neurons
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what is the main causes of ALS
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Most cases are sporadic although some familial involve mutations on chromosome 21 (defective superoxide dismutase 1--> superoxide free radical injury of neurons).
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what is the age of onset for ALS
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40-60
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what is the presentation of ALS
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UMN: Spasticity, Babinksi's
LMN: Weakness (begins with atrophy of intrinsic muscles of hands) and fasciculations, eventual paralysis of respiratory muscles. No sensory changes, no bladder/bowel malfunction. |
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what is the diagnosis for ALS
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Dx: Electromyography and nerve conduction studies.
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what is the prognosis for ALS
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Prognosis: average survival is 3-5 years.
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what is the path finding for ALS
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Spinal cord shows loss of neurons from anterior horn, demyelination and loss of lateral corticospinal tracts leading to denervation and atrophy of skeletal muscle.
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what is the inheritance pattern for wilson disease?
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AR
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what is wilson disease?
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AR disease with defect in copper excretion in bile, defect in incorporation of copper into ceruloplasmin and liver cirrhosis with excess free copper in blood
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what is presentation of wilson disease?
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Parkinsonism (due to deposit in putamen), chorea (due to deposit in subthalamic nucleus), dementia (due to deposit in cerebral cortex),
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what is the KEY finding to diagnose wilsons disease
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kayser-fleischer ring
decreased total serum copper, decreased serum ceruloplasmin, increased serum and urine free copper. |
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what are the possible causes of multiple sclerosis?
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MC demyelinating disease, predominant in females.
Autoimmune disease initiated by either genetic factors (HLA-DR2) or environmental triggers (EBV, HHV-6, Chlamydophilia pneumoniae, Vitamin D, sun exposure). -HLA-DR15 has been implicated in familial cases |
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what is the proccess by which environmental triggers incite MS
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Environmental trigger activates helper T cells whose Ag specific receptors recognize CNS myelin basic protein--> release of cytokines (TNF-alpha) that leads to destruction of the myelin sheath as well as oligodendrocytes that synthesize myelin (Type IV hypersensitivity). AB against the myelin sheath and oligodendrocytes may also be involved (Type II HS)
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what is key about the presentation of MS over other peripheral nerve diseases?
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it is episodic
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what is the main lab findings in MS
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Lab findings: increased CSF leukocyte count (CD4), increased CSF protein (primarily due to increase in gamma globulins), increased myelin basic protein, normal CSF glucose, oligoclonal bands (discrete bands of protein in gamma globulin region, sign of demyelination).
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what is prognosis for MS
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Prognosis: Varies with the type of disease. On average ~70% of patients with MS are alive 25 years after diagnosis.
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what is the micro finding in MS
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Microscopically-Loss of myelin with PAS positive macrophages, gliosis, perivascular lymphocytes with microglial cells with phagocytosed lipid. Oligodendrocytic cell loss with preservation of axons
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what is gene defect in adrenoleukodystrophy?
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X-linked recessive disorder (Xq28)
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what is the pathology behind adrenoleukodystrophy?
|
enzyme deficiency in beta-oxidation of fatty acids in peroxisomes--> accumulation of LCFA myelin breakdown and adrenal atrophy
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what is the presentation of andrenoleukodystrophy?
|
Onset most common between ages 4 and 8. Cortical disturbances of visual and hearing function, gait disturbances, signs of Addison's disease
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what is the prognosis of adrenoleukodystrophy?
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Prognosis: death in first few months to years.
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what is the EM finding in ALD
|
trilamellar membranes with VLCFA cholesterol esters in Schwann cells and adrenal cortical cells
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what is the inheretance pattern or metachromatic leukodystrophy?
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autosomal rescessive
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what is the pathologic process of metachromatic leukodystrophy?
|
AR disorder (Lysosomal storage disease) with a deficiency of arylsulfatase A leading to accumulation of sulfatides.
Kills oligodendrocytes--> loss of myelin |
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what is the course of metachromatic leukodystrophy?
|
Motor symptoms in childhood onset leading to death in 5-10 years. In adults forms psychiatric or cognitive symptoms are usual initial complaint with motor coming later.
Slowly progresses over time with no cure. |
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how is metachromatic leukodystrophy identified in micro?
|
Membrane-bound vacuoles contain crystalloid structures composed of sulfatides. The sulfatides within the macrophages bind to toluidine blue leading to a shift in the absorbance spectrum (metachromasia).
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what is the inheritance pattern of Krabbe disease?
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AR
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what is the pathologic process behind krabbe disease?
|
galactocerebroside beta-galactocerebrosidease deficiency. Reduced enzymatic activity and decreased ability to degrade galactocerebroside that is found almost exclusively in myelin.
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what is the clinical course of Krabbe disease
|
Infantile form presents with irritability and progressive stiffness (irratible-hypertonic presentation).
Followed by mental and motor deterioration. Usually die within the 1st and 2nd year of life. |
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what is characteristic histo for krabbe disease
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globoid cells-multinucleated histiocytic cells
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