Pathology Flashcards
The Nissl stain is for ________ and binds ______.
neuronal bodies
nucleic acid
Lipofuscin accumulates in neurons due to ____.
aging
True melanin is made by _______ and is located in the _______.
tyrosinase
leptomeningeal melanocytes of the ventral medulla and cervical cord
Cytotoxic edeme is caused by ________.
impaired Na/K ATP pump
What is Ferruigination?
when dead neurons become encrusted with Fe and Ca
When does central chromatolysis occur?
injury to an axon near the cell body
What occurs in chromatolysis?
Nissl substance disappears, the nucleus becomes eccentric, and the cell body enlarges
cells may recover or progress to death
Silver stain stains ______.
cellular processes
Neurofibrillary tangles can be seen on what stain?
sillver stain
Subacute pansclerosing encephalitis is caused by _______.
measles
What viral infections have intranuclear inclusion bodies?
HSV 1, CMV, measles (the last two also have cytoplasmic inclusion bodies)
What are negri bodies? When are they seen?
intracytoplasmic inclusion bodies
rabies
Metabolic/degnerative inclusion bodies are all _______.
intracytoplasmic
Lewy bodies are seen in ______ and have a characteristic ______. They are located in the ______.
Parkinson’s disease
halo
cytoplasm
Lafora bodies can be stained with ______.
PAS
Hirano bodies are seen in _______ and are most commonly seen in the brain in the _______.
alzheimer’s disease
hippocampus
What are Bunina bodies?
intracytoplasmic inclusion bodies seen in ALS
What is a hamartoma?
disorganized cells located in the proper location
What is a choristoma?
properly organized cells in the wrong location
What causes duret hemorrhages during herniation?
arteriole stretching
What causes the Kernohan’s notch presentation?
contralateral cerebral peduncle compressed against the incisura
<p>What are rosenthal fibers?</p>
<p>eosinophilic masses in the astrocytic processes</p>
<p>Where are rosenthal fibers seen?</p>
<p>Pilocytic astrocytomas, Alexander disease, and reactive (secondary) astrocytosis</p>
<p>What are alzheimer type II astrocytes? When are they seen?</p>
<p>type of primary astrocytosis; large vesicular gray nuclei with glycogen inclusions in the cytoplasm</p>
<p></p>
<p>hepatic encephalopathy</p>
<p>When ependymal cells are injured, what replaces them?</p>
<p>subependymal astrocytes</p>
The brain and spinal cord are embryologically derived from _____ during weeks ______.
neuroectoderm
3-8
Primary neurulation occurs at ______.
3-4 weeks
What induces the primitive streak to form the neural plate?
notochord
The primitive streak forms POD ____.
POD 13
The notochord forms POD _____.
POD 17
The neural folds fuse on ______ to form _____.
POD 22
neural tube
The primitive streak forms the _____ which forms the _____ which forms the ______.
neural plate
neural groove
neural folds
The anterior neuropore closes on ______ forming the _______.
POD 24
lamina terminalis
Posterior neuropore closes on _____.
POD 26
What is dysjunction?
separation of the ectoderm from neuroectoderm after the neural tube forms
What happens when dysjunction occurs to early?
mesenchyme can enter the neural tube and form lipomas and lipomyelomeningoceles
Focal failure of dysjunction causes _______.
epithelial lined dermal sinus tract
Widespread failure of dysjunction can cause ______.
myelocele or myelomeningocele
Secondary neurulation occurs at _______ (days/weeks)
4-5 weeks
Problems with secondary neurulation cause _____.
spinal dysraphism below L1/2
What is ventral induction? When does it occur?
5-10 weeks PO; primary vesicles form from the neural tube
Abnormalities during ventral induction cause ________.
holoprosencephaly, septic optic dysplasia, and dandy walker malformation
Neuronal proliferation, differentiation, and migration occur around _______.
2-5 months
When does myelination start? When does it end?
5 months prenatalby 2 years post natal
What is the progression of myelination during CNS development?
caudad to cephalad, dorsal to ventral, central to peripheral, and sensory before motor
The prosencephalon divides into ________.
telencephalon and diencephalon
What structures arise from the telencephalon?
hemispheres, caudate, putamen, fornices, anterior commissure, corpus callosum, and hippocampus
What structures arise from the diencephalon?
thalamus, globus pallidus (GP), posterior hypophysis, infundibulum, optic nerve, retina, posterior commissure, and habenular commissure
The mesencephalon forms the ______.
midbrain
The rhombencephalon divides into ________.
metencephalon and myelencephalon
The metenecephalon forms the ______.
pons, fourth ventricle, and cerebellum
The myelencephalon forms the ______.
medulla
The germinal matrix forms at _______ and involutes at _______.
7 weeks GA
30 weeks GA
What is the directionality of the formation of the corpus callosum?
front to back except for the rostrum which forms last
What are the basal and alar plates?
prelimary structures to the brainstem
The basal plate contains somatic, special, and visceral _______ while the alar plate contains _______.
efferent
afferents
Which subset of nuclei lie the most medial on the basal and alar plates?
somatic efferents/afferents
What is formed from the neural crest cells?
leptomeninges, Schwann cells, sensory ganglia of the CNs, dorsal root ganglia (DRG), autonomic nervous system ganglia, the adrenal medulla, melanocytes, and amine precursor uptake and decarboxylation (APUD) cells
What is derived from the ectodermal placodes?
olfactory epithelium, CN V and CN VII to CN X ganglia
Chordomas are believed to embryologically derive from _______.
notochord remnants
The dura is derived from what embryological layer?
mesoderm
The pia/arachnoid are derived from what embyrological layer?
neuroectoderm
When does the metopic suture close?
around 1 year
When does the anterior fontanelle close?
around 2.5 years
When does the posterior fontanelle close?
2-3 months
When does the sphenoid fontanelle close?
2-3 months
When does the mastoid fontanelle close?
around 1 year
What is a malformation?
when an organ is not formed properly
What is dysplasia?
when tissues are not formed properly
What is the most common congential malformation?
anencephaly
In anencephaly, what is increased in the amniotic fluid?
AFP and acetylcholinesterase
What is craniorachischisis?
complete exposure of the brain and spine (think extreme anencephaly)
What two drugs are associated with an increased risk of myelomeningocele?
valproic acid and carbamazepine
What is the most frequent type of encephalocele in Southeast Asian communities?
Sincipital (frontoethmoidal) encephalocele
Which type of encephalocele is associated with dermoids and epidermoids?
Sphenoehtmoidal (nasal) encephalocele
What is the most common type of encephalocele in the West?
occipital encephalocele
What is Meckel Gruber syndrome? What is a risk factor?
characterized by cystic dysplastic kidneys, cardiac anomalies, orofacial clefting, and cephaloceles
maternal hyperthermia on days 20–26 of gestation
What percent of dermal sinus tracts end in epidermoids or dermoids?
50%
What are the most common locations for dermal sinus tracts?
lumbar followed by occipital
What is arrhinencephaly? What diseases is it associated with?
absence of the olfactory bulbs and tracts with normal cortex and gray matter in place of the corpus callosum
Kallman’s syndrome and holoprosencephaly
What’s another name for de Morsier’s syndrome?
septooptic dysplasia
What is septooptic dysplasia?
mild lobar holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic optic nerves
associated with seizures, visual symptoms, hypothalamic–pituitary dysfunction (precocious puberty), enlarged ventricles, and hypotelorism
What is cleidocranial dysostosis?
occurs with retention of mandibular teeth, delayed closure of fontanelles, wormian bones, and midline defects
Posterior fossa arachnoid cyst (will/will not) fill with intrathecal contrast.
will not fill
What is Lhemitte Duclos disease?
hypertrophied cerebellar granular cell layer and increased myelin in the molecular layer of the cerebellum with thick folia; considered a hamartoma
What syndrome is Lhemitte Duclos associated with ?
Cowden syndrome
What is the presentation of Cowden syndrome?
facial trichilemmomas, fibromas of the oral mucosa, hamartomatous polyps of the gastrointestinal (GI) tract and breast, and thyroid tumors (as well as cerebellum)
What is the genetic abnormality in Cowden syndrome?
PTEN mutation on Ch 10 (ten on ten)
What is syringobulbia?
fluid filled cavity in the brainstem
What is the inheritance of Crouzon syndrome?
AD or sporadic
What is the mutation in Crouzon syndrome?
fibroblast growth factor receptor 2
What is the presentation of Crouzon syndrome?
shallow orbits, exophthalmos, midface hypoplasia, malformed ears, agenesis of the corpus callosum, less severe mental retardation than with Apert syndrome, and increased incidence of hydrocephalus. More than one suture is involved, and they may have oxycephaly,turricephaly, or dolichocephaly
What is the mutation in Alpert syndrome?
fibroblast growth factor receptor
What is the presentation of Alpert syndrome?
more severe Crouzon; many whole body abnormalities; ONLY THE CORONAL SUTURE IS INVOLVED (turricephalic)
What is Klippel Feil syndrome?
congenital fusion of the upper cervical vertebrae
What is Klippel Feil syndrome associated with?
Sprengel’s deformity (elevation of the scapula) and Chiari I malformation
Which of the Trisomies is associated with rocker bottom feet?
18 (edwards)
Which of the trisomies is assoociated with polydactyly?
13 (Patau)
What is the mutation in cri-du-chat?
5p deletion
What cerebellar abnormality is seen in Fragile X syndrome?
vermian hypoplasia
What is the mutation in Fragile X syndrome?
trinucleotide repeat in FMR1 gene
What causes ataxia telengectasia?
defective DNA repair
What is the presentation of ataxia telengectasia?
characterized by cerebellar atrophy, lentiform nucleus calcifications, pachygyria, impaired immune system, increased lymphoreticular carcinoma
What is caput succedaneum?
cutaneous hemorrhagic edema in the skin over the calvarium caused by pressure during birth with vascular stasis. It crosses sutures and resolves in 48 hours
What is a cephalohematoma?
Subperiosteal blood that does not cross suture lines. It is usually parietal and may calcify
What is occpital osteodiastasis?
perinatal injury
traumatic separation of the squamous and lateral occipital bone with tearing of the occipital sinus and bleeding in the posterior fossa
What percentage of premature births have PIVH?
40%
What percent of full term births have PIVH?
3-7%
Where does PIVH originate from?
germinal matrix
What increases the risk of PIVH?
prematurity and ARDS
What is the morbidity and mortality of PIVH?
15-40%, 20-60%
What is colpocephaly?
dilated occipital horns associated with agenesis of the corpus callosum and periventricular leukomalacia, mental retardation, and seizures
What is status marmoratus?
thalamus, neostriatum, and cortex develop irregular intersecting bands of myelin and astrocytic fibers that grossly resemble marble caused by cell loss followed by remyelination
How is elevated bilirubin in neonates treated?
phototherapy using ultraviolet light, but if the bilirubin is > 20 with associated sepsis, prematurity, acidosis or low albumin, treat with an exchange transfusion
What lines the cavity in porencephaly?
gliotic white matter
What lines the cavity in schizencephaly?
grey matter
What is hydraencephaly?
cortex is mostly replaced by CSF (water head)
The most frequent pathogen overall for meningitis is _____.
H Flu
The most frequent cause of meningitis in adults is _______.
Strep pneumo
The three most common causes of meningitis are ________ and they normally colonize the ______.
H Flu, Strep pneumo, Neisseria meningitidis
nasopharynx
Most common cause of shunt infections is ______.
S. epidermidis
What is the mortality rate of the most common types of meningitis?
10% (H. influenzae and N. meningitidis), 25% (S. pneumoniae), and 50% (neonatal, with 50% of survivors having permanent sequelae
In the neonate period (<4 weeks), what are the three most common causes of meningitis?
Group B strep, E coli, and Listeria
What is the most common cause of meningitis in the 4-12 week period?
Strep pneumo
What is the most common cause of meningitis in the 3 month to 3 year period?
H flu
B/l subdural effusions is associated with what meningitic infections in infants? What is it due to? What can it cause?
H flu mostly and Strep pneumo
increased permeability of blood vessels
seizures
Steroids in meningitis has been show to do what?
decrease incidence of deafness in children
What is the most common cause of meningitis in children and young adults?
N meningitidis
What is the most common cause of meningitis in the elderly?
Strep pneumo
What is the most common pathogen for brain abscess?
streptococcus
What is the most common cause/source of cerebral abscess?
ear or sinus infection spreading along valveless venous channels (40%)
What percent of cerebral abscesses are secondary to hematogenous spread?
33%
What’s the incidence of brain abscess in cyantoic heart disease? What causes it?
5%
due to decreased pulmonary blood filtration and lower oxygen tension in the brain
What’s the incidence of brain abscess in hereditary hemorrhagic telangiectasia? What is the reason?
5%
presence of pulmonary AVMs
What are the most common pathogens of brain abscess in neonates?
Citrobacter, Bacteroides, Proteus, and Gram-negative bacilli
In trauma, what is the most frequent pathogen in brain abscesses?
Staph
What percent of subacute bacterial endocarditis develop infectious aneurysms?
10%
What are the most common pathogens in encephalitis?
Legionella (CSF culture is usually negative), Mycoplasma, Listeria (in neonates and immunosuppressed patients, CSF culture is usually positive), and Brucella
What are the most common pathogens for subdural empyema?
Streptococcus and Bacteroides from an adjacent infection
What is Gradenigo syndrome?
petrous apex osteomyelitis with CN VI palsy and retro-orbital pain and may occur in children from extension of severe otitis
Pathologic examintion in TB meningitis shows _____.
demonstrates granulomas with caseating necrosis, lymphocytes, and Langerhans giant cells
What is the morbidity and mortality of TB meningitis?
80% and 30%
The nervous system is involved in ______ of cases of sarcoidosis.
5%
________ levels are elevated in sarcoidosis.
serum ACE
What is Whipple disease? What is seen on pathology?
chronic multisystem disease caused by Tropheryma whippelii
characterized by weight loss, abdominal pain, diarrhea, lymphadenopathy, arthralgia, and Alzheimer’s disease-like neurologic symptoms (10%)
demonstrates foamy macrophages with PAS-positive granules
What percent of cases of syphillis involve the CNS?
25%
What are the four types of syphilis?
- Meningovascular syphilis
- general paresis of the insane
- tabes dorsalis
- Congenital syphilis
Which type of syphilis is associated with multiple ischemic strokes?
meningovascular
Which type of syphilis is associated with Argyl robertson pupils?
general paresis of the insane and tabes dorsalis
Which type of syphilis is associated with hutchinson’s triad? What is hutchinson’s triad?
congential and meningovascular
notched teeth, deafness, and interstitial keratitis
What are the features of tabes dorsalis?
occurs after 15–20 years from syphilis infection
characterized by myelopathy from meningealfibrosis; mainly dorsal root and posterior column involvement, W-shaped demyelination in the thoracic and lumbar spinal cord from the posterior horns inward, lightning-like pains, sensory ataxia, urinary incontinence, decreased lower limb deep tendon reflexes, decreased proprioception and vibratory sense, positive Romberg’s test, Argyll Robertson pupils (90%),ptosis, optic atrophy, and Charcot joints of the hip, knee, and ankle
What cranial nerve is most commonly affected in Lyme disease?
CN VII
What is the pathogen in Lyme disease?
Borrelia burgdorferi
What is the pathogen in syphilis?
Treponema pallidum
All fungi stain with ________.
methenamine silver
What is the most frequent CNS fungal infection?
Candida
Blastomycosis is associated with what part of the US?
eastern
Histoplasmosis is associated with what part of the US?
Ohio, Mississippi, and St Lawrence river valleys
What is the most frequent fungal meningitis?
Cryptococcus
Cryptococcus stains with ______ forming the distinct ______.
india ink
halos
What part of the US is Coccidioidomycosis from?
southwest
What is the pathogen in Cysticerosis?
Taenia solium
What is the most frequent brain mass in AIDS patients?
Toxoplasmosis
Congential toxoplasmosis lesions include ______.
brain necrosis, periventricular calcification, hydrocephalus, hydranencephaly, chorioretinitis, and hepatosplenomegaly.
What is the mortality in overall viral encephalitis?
5-20%
What is the mortality in HSV encephalitis?
50%
What is the incidence of permanent sequelae in patient’s who survive encephalitis?
20%
What is seen on pathology for viral encephalitis?
perivascular mononuclear infiltrates
HSV is found in the trigeminal ganglion in percent of adults?
50%
What is the most frequent cause of sporadic encephalitis?
HSV
What are Cowdry type A inclusions?
intranuclear eosinophilic masses with a surrounding halo found in neurons, oligodendrocytes, and astrocytes
seen in HSV and CMV
What are the pathologic findings in CMV?
Cowdry type A and intracytoplasmic inclusions
What findings are seen in congenital CMV infection?
microcephaly, hydrocephalus, chorioretinitis, and microphthalmia
What percent of shingles involve trigeminal nerve? which branch?
15% at V1
Herpes infection of the geniculate ganglion is called ______.
Ramsey Hunt Syndrome
What are the pathologic findings in Varicella?
Intranuclear inclusions in the DRG and the posterior horn gray matter, posterior roots, and meninges
What are Negri bodies? Where are they usually seen?
Intracytoplasmic eosinophilic collections of ribonucleoproteins
rabies infection in cerebellum (Purkinje cells), brainstem, and hippocampus
What are the symptoms of rabies infection?
Anxiety, dysphagia, and spasms of the throat when attempting to swallow (hydrophobia)
Which cells are most affected by polio virus?
anterior horn cells
What virus is associated with Progressive multifocal leukoencephalopathy (PML)?
JC virus
What inclusions are seen in PML?
intranuclear inclusions of “stick-and-ball” viral particles
What are the clinical findings in CJD?
myoclonus, pyramidal, and extrapyramidal degeneration, dementia, ataxia, and visual deterioration
What are the EEG findings with prion disease?
bilateral sharp waves of 1–2 wave/s that resembleperiodic lateralized epileptiform discharges, but are reactive to painful stimuli
What is seen on pathologic changes in prion disease?
spongiform changes with astrocytosis but no inflammation most prominently in the cortex, putamen, and thalamus
What is unique on pathologic examination of HIV encephalitis?
the presence of multinucleated giant cells
What is Rasmussen chronic encephalitis?
occurs in childhood and causes progressive deficits and seizures (classically complex partial status epilepticus) with unilateral atrophy. It may be caused by CMV infection or antibodies to glutamate receptors
What is the most frequent congenital CNS infection?
CMV
In the CNS, CMV has an affinity for ______ and causes ________.
germinal matrix
perivascular necrosis and calcifications
What is the triad of congenital toxoplasmosis infection?
hydrocephalus, bilateral chorioretinitis, and cranial calcifications
What is the most common late manifestation of congenital toxoplasmosis?
deafness
Congenital rubella syndrome consists of what clinical presentation?
chorioretinitis, cataracts, glaucoma, microphthalmia, microcephaly, mental retardation, and deafness
In congenital syphilis, what is hutchinson’s triad?
Dental disorders, bilateral deafness, and interstitial keratitis
<p>What percent of brain tumors are infratentorial in children?</p>
<p>70%</p>
<p>What are the most common infratentorial brain tumors in children?</p>
<p>cerebellar astrocytoma (33%), brainstem glioma (25%), medulloblastoma (25%), and ependymoma (12%)</p>
<p>What are the most frequent supratentorial brain tumors in children?</p>
<p>low-grade astrocytomas (50%), craniopharyngiomas (12%), and optic gliomas (12%)</p>
<p>In neonates and infants, are tumors more commonly supratentorial or infratentorial? What are the most common types?</p>
supratentorial
most common is teratoma, followed by primitive neuroectodermal tumors (PNETs), highgradeastrocytoma, and choroid plexus papilloma
<p>In older children, are tumors more commonly supratentorial or infratentorial? What are the most common types?</p>
<p>infratentorial
astrocytoma (50%), PNET (15%), craniopharyngioma (10%), ependymoma (10%), and pineal tumor (3%)</p>
<p>What is the genetic mutation in Turcot syndrome?</p>
<p>APC mutation on Ch 5</p>
<p>What is the triad of Turcot syndrome?</p>
<p>familial polyposis, colorectal cancer, and primary brain tumors</p>
<p>Synaptophysin stains tumors with \_\_\_\_\_\_.</p>
<p>neurons</p>
<p>Which phases of the cell cycle are sensitive to radiation? Which are resistant?</p>
<p>G1 and M phase
S phase</p>
<p>Which tumors stain positive for bHCG?</p>
<p>choriocarcinoma and the syncytiotrophoblastic variant of germinomas</p>
<p>Which tumors stain positive for desmin?</p>
<p>rhabdosarcoma, teratoma</p>
<p>Mitotic index measures \_\_\_\_\_.</p>
<p>which cells are in the M phase (misleading as cells can be dividing but not in M phase)</p>
<p>What does flow cytometry measure?</p>
<p>stains DNA and measures how many cells have double DNA</p>
<p>Ki67 is expressed in all stages of the cell cycle except\_\_\_\_\_\_.</p>
<p>G0</p>
<p>Burkitt lymphoma is associated with which oncogene?</p>
<p>c-myc</p>
<p>What oncogene is associated with neuroblastoma?</p>
<p>n-myc oncogene 9</p>
<p>What percent of astrocytomas have p53 mutations?</p>
<p>33%</p>
<p>What chromosome is p53 located on?</p>
<p>17p</p>
<p>What are Anti-Yo antibodies? What are they associated with?</p>
<p>paraneoplastic cause cerebellar degeneration
associated with breast and ovarian</p>
<p>What are Anti-Hu antibodies? What are they associated with?</p>
<p>paraneplastic
sensory neuropathy, encephalitis, and cerebellar degeneration
oat cell pulmonary carcinoma and lymphoma</p>
<p>What are Anti-Ri antibodies? What are they associated with?</p>
<p>paraneoplastic
cause ospoclonus
associated with breast ca</p>
<p>What is a paraneoplastic cause of Stiff man syndrome?</p>
<p>antibodies to glutamic acid decarboxylase</p>
<p>What are radiation doses for metastatic tumors generally?</p>
<p>30 Gy over 2 weeks</p>
<p>What are radiation doses for gliomas generally?</p>
<p>6,000 cGy in 200 cGy daily fractions</p>
<p>What is seen pathologically with radiation necrosis?</p>
<p>White matter coagulation necrosis or demyelination associated with arterioles with hyalin intimal thickening, fibrinoid necrosis, and thrombosis</p>
<p>When do radiation necrosis symptoms usually manifest?</p>
<p>Symptoms usually start between 3 months and 3 years (average 15–18 months) after radiation</p>
<p>Radiation myelopathy risk is reduced if dosing kept under \_\_\_\_\_ daily, \_\_\_\_ weekly, and \_\_\_\_\_ total.</p>
<p>200 cGy
900 cGy
6,000 cGy</p>
<p>What are the three types of astrocytes?</p>
<p>Fibrillary, Protoplasmic, and Gemistocytic</p>
<p>What WHO grade is a Juvenile Pilcytic Astrocytoma?</p>
<p>WHo grade I</p>
<p>What are the most common locations for a JPA?</p>
<p>cerebellum, brainstem, optic pathway, and infundibulum</p>
<p>What is the most common place for a JPA in an adult?</p>
<p>near the third ventricle</p>
<p>What are key features for JPAs radiographically?</p>
<p>60% are cystic with a mural nodule (red-tan nodule)</p>
<p>What is seen on pathology for JPAs?</p>
<p>biphasic pattern of loose cells and microcysts and also dense elongated hair-like astrocytes with Rosenthal fibers and eosinophilic granular bodies</p>
<p>What is the survival rate for JPAs?</p>
<p>86–100% at 5 years, 83% at 10 years, and 70% at 20 years</p>
<p>What are the key radiographic findings in plemorphic xanthoastrocytoma?</p>
<p>predilection temporal lobe (seizures), cystic with mural nodule</p>
<p>PXAs are WHO grade \_\_\_\_\_\_.</p>
<p>Grade II</p>
<p>What is seen on pathology in PXAs?</p>
<p>bizarre pleomorphic astrocytes with xanthomatous fat cells, spindle cells, and multinucleated cells, frequent mitoses, calcifications, a rich reticulin network, and no necrosis</p>
<p></p>
<p>What are the key radiographic findings in subependymal giant cell astrocytoma?</p>
<p>located near the foramen of Monro,enhance, have frequent calcifications, may be cystic and lobulated, and tend to be well demarcated</p>
<p>What percent of tuberous scleorsis patients have SEGA?</p>
<p>15%</p>
<p>What are the pathology findings with SEGA?</p>
<p>large multinucleated cells and rare mitoses</p>
<p>What is the most common type of diffuse astrocytoma?</p>
<p>fibrilary</p>
<p>Which type of diffuse astrocytoma has the worse prognosis?</p>
<p>gemistocytic</p>
<p>What percent of astrocytomas are grade II?</p>
<p>15%</p>
<p>What percent of grade II astrocytomas increase in grade over time?</p>
<p>50%</p>
<p>What is the median survival rate of grade II astrocytomas?</p>
<p>5-year survival rate with total resection and radiation is 70% and with subtotal resection and radiation is 38%. Median survival rate is 8.2 years</p>
<p>What percent of astrocytomas are grade III?</p>
<p>30%</p>
<p>What is the median survival rate for grade III astrocytomas?</p>
<p>2-3 years</p>
<p>What percent of astrocytomas are GBMs? What percent of all brain tumors are GBMs?</p>
<p>50%</p>
<p></p>
<p>20%</p>
<p>What is seen on pathology for GBM?</p>
<p>heterogeneous with cysts, degeneration, necrosis, hemorrhages, edema, marked hypercellularity, nuclear atypia, frequent mitoses, pseudopalisading, and endothelial hyperplasia with glomeruloid structures</p>
<p>What percent of GBMs are multicentric?</p>
<p>3-6%</p>
<p>Epithelial growth factor receptor is on Ch \_\_\_\_ and mutations areassociated with what tumor?</p>
<p>7</p>
<p></p>
<p>GBM</p>
<p>IDH1 mutation patients have (better/worse) outcomes.</p>
<p>better</p>
<p>What is the MGMT gene? What is its significance in GBMs?</p>
<p>Epigenetic silencing (DNA methylation) of the MGMT gene, which encodes a DNA repair protein and represents an important mechanism of chemotherapy resistance, is an independent predictor of improved survival as well as survival benefit from temozolomide</p>
<p>What is the difference between adult and juvenile pilocytic astrocytoma?</p>
<p>adult version is not well circumscribed and has worse prognosis</p>
<p>What percent of GBMs are gliosarcoma?</p>
<p>2%</p>
<p>What stains are useful in the evaluation of gliosarcome?</p>
<p>Silver stains the reticulin in the sarcoma<br></br>component and GFAP stains the GBM component</p>
<p>Malignant optic gliomas are associated with what disease?</p>
<p>NF-1</p>
<p>What is the treatment paradigm for optic gliomas?</p>
<p>(1) distal to the chiasm, remove optic nerve and attached globe</p>
<p><br></br>(2) If the chiasm is involved, resect up to the chiasm preserving vision in the better eye and consider radiation if tumor progression is noted</p>
<p>What percent of intracranial tumors in children are brainstem gliomas?</p>
<p>about 20%</p>
<p>What mutation is associated with brainstem gliomas?</p>
<p>H3 K27M</p>
<p>What percent of gliomas are oligoendrogliomas?</p>
<p>10%</p>
<p>Immunohistochemistry in oligodendrogliomas is postivie for \_\_\_\_\_\_.</p>
<p>GFAP and S100</p>
<p>What is seen on pathology for oligodendrogliomas?</p>
<p>round nuclei with scant cytoplasm, a chicken-wire vascular pattern with thin vessels</p>
<p></p>
<p>fried egg yolk-appearing cells and nucleus are caused by an artifact from cytoplasmic retraction seen in permanent, but not in frozen sections</p>
<p>What's the survival rate for oligodendrogliomas?</p>
<p>low grade tumors have a 5-year survival rate of 74% and 10-year survival rate of 46%</p>
<p></p>
<p>high-grade tumors have a 5-year<br></br>survival rate of 41% and a 10-year survival rate of 20%.</p>
<p>What percent of oligodendrogliomas have calcifications?</p>
<p>85%</p>
<p>What chemotherapy is used for oligodendorgliomas?</p>
<p>Procarbazine, carmustine, and vincristine (PCV) or temozolomide chemotherapy</p>
<p>What is the most common genetic mutation with oligodendrogliomas? What does it entail for prognosis?</p>
<p>Combined loss of heterozygosity of chromosomes 1p and 19q (the most common genetic alteration in oligodendrogliomas) is associated with a better response to chemotherapy and improved progression-free and overall survival in patients with anaplastic oligodendrogliomas</p>
<p>Ependymomas account for \_\_\_\_\_ of intramedullary spinal tumors and usually occur at the \_\_\_\_\_.</p>
<p>60%</p>
<p></p>
<p>filum</p>
<p>Multiple spinal cord ependymomas is associated with \_\_\_\_\_\_.</p>
<p>NF-2</p>
<p>What percent of ependymomas have calcifications?</p>
<p>50%</p>
<p>What are the four types of ependymomas?</p>
<p>- cellular</p>
<p>- papillary</p>
<p>- myxopapillary</p>
<p>- clear cell</p>
<p>Which type of ependymoma histologically resembles oligodendrogliomas?</p>
<p>clear cell</p>
<p>What is seen on pathology with cellular ependymomas?</p>
<p>heetlike growth of polygonal cells with true rosettes (around a central canal), pseudorosettes (around a blood vessel), and blepharoplasts (ciliary basal bodies in the apical cytoplasm)</p>
<p>Ependymoma immunohistochemistry is positive for \_\_\_\_.</p>
<p>GFAP and PTAH</p>
<p>What is the survivial rate for ependymomas?</p>
<p>45% at 5 years</p>
<p>What is the histology of the ependyma?</p>
<p>single layer of cuboidal/columnar cells that are ciliatedhave microvilli; dual epithelial–glial nature and lie over the subependymal glia</p>
<p>Where are subependymomas most commonly located?</p>
<p>lateral ventricle or inferior fourth ventricle</p>
<p>What is seen on histology with subependymomas?</p>
<p>nests of cells separated by glial fibers</p>
<p>\_\_\_\_\_\_ are the only intraventricular tumors that do not enhance.</p>
<p>subependymomas</p>
<p>What is the most common location for choroid plexus paplilomas in children? In adults?</p>
<p>left atrium of lateral ventricle</p>
<p></p>
<p>fourth ventricle</p>
<p>What is seen on pathology for choroid plexus paplilomas?</p>
<p>cauliflower papillary shape with cuboidal and columnar cells and no cilia (except in children)</p>
<p>What does immunohistochemistry show for choroid plexus papilomas?</p>
<p>positive for transthyretin, vimentin, keratin, S100, and GFAP</p>
<p>What is radiographically seen with ganglioglioma?</p>
<p>temporal lobe,well circumscribed, cystic, firm, and often has a calcified nodule</p>
<p>What is seen on pathology for ganglioglioma?</p>
<p>perivascular inflammatory cells, reticulin, glia, and BINUCLEATEneurons</p>
<p>What does immunohisotchemistry show for ganglioglioma?</p>
<p>positive for neurofilament, synaptophysin, neurosecretory granules, and GFAP</p>
<p>What is seen radiographically demoplastic infantile ganglioglioma?</p>
<p>massive frontal cystic lesion that's adherent to the dura</p>
<p>What is the immunohistochemistry for desmoplastic infantile ganglioglioma?</p>
<p>GFAP +</p>
<p></p>
<p>EMA -</p>
<p>What cerebral structural abnormality is associated with dysembryoplastic neuroepithelial tumor?</p>
<p>cortical dysplasia</p>
<p>Histologically what separates DNET from ganglioglioma?</p>
<p>DNET: cortical with normal neurons and abnormal oligo and astrocytomas</p>
<p></p>
<p>Ganglioglioma: white matter with abnormal neurons</p>
<p>Where do central neurocytomas originate from?</p>
<p>septum pellucidum</p>
<p>What is seen on pathology in central neurocytoma?</p>
<p>demonstrates monotonous hypercellularity similar to oligodendrogliomas with rare mitoses, frequent cysts, and occasional hemorrhages</p>
<p>What is seen on immunohisotchemistry in central neurocytoma?</p>
<p>positive for synaptophysin</p>
<p>What are medulloblast cells? Where do they originate?</p>
<p>bipotential cells capable of differentiating into glia or neurons</p>
<p></p>
<p>postulated that they are derived from the external granular layer of the cerebellum or from dysplastic cell rests in the anterior and posterior medullary velum</p>
<p>Medulloblastomas are WHO grade \_\_\_\_\_.</p>
<p>iV</p>
<p> What is the most common genetic abnormality in medulloblastoma?</p>
<p>isochromosome 17q</p>
<p>What syndrome is associated with medulloblastoma? What is the genetic cause of this syndrome?</p>
<p>Gorlin syndrome (basal nevus syndrome)</p>
<p></p>
<p>mutation of PTCH on Ch 9q</p>
<p>What is the most common extracranial malignant solid tumor in children?</p>
<p>retinoblastoma</p>
<p>Retinoblastoma derives from \_\_\_\_\_.</p>
<p>neural crest precursor of the sympathetic ganglia</p>
<p>What are the key pathology features for retinoblastoma?</p>
<p>Flexner-Wintersteiner and Homer-Wright rosettes</p>
<p>ATRTs are WHO grade \_\_\_\_\_.</p>
<p>IV</p>
<p>Pineoblastoma are WHO grade \_\_\_\_.</p>
<p>IV</p>
<p>What is seen on pathology for ATRTs?</p>
<p>densely cellular blue cell tumors mixed with rhabdoid cells. Rhabdoid cells have eosinophilic rounded, rhabdoid cytoplasmic inclusions</p>
<p></p>
<p></p>
<p>What is the genetic associated of ATRT?</p>
<p>deletions of chromosome 22 containing the INI1/hSNF5 gene</p>
<p>What is seen on pathology for medulloblastoma?</p>
<p>Closely packed undifferentiated cells with no discernable cytoplasm (small blue cells).</p>
<p>How does central neuroblastoma appear on imaging?</p>
<p>usually supratentorial, hemispheric, and circumscribed</p>
<p>What is the survival rate of central neurocytoma?</p>
<p>30% at 5 years</p>
<p>Explain the different between pseudorosettes, homer wright rosettes, and flexner wintersteiner rosottes?</p>
<p>Pseudo: around blood vessel</p>
<p></p>
<p>Homer Wright: around central granular fibrilar substance</p>
<p></p>
<p>Flexner Wintersteiner:columnar cells with a small lumen seen with retinoblastomas and also pineoblastomas</p>
<p>What percent of primary intracranial tumors are meningiomas?</p>
<p>15%</p>
<p>What genetic abnormality is common seen in meningiomas?</p>
<p>72% of tumors have monosomy 21</p>
<p>True ependymal rosettes are most commonly seen in \_\_\_\_\_.</p>
<p>ependymoma</p>
<p>Meningiomas originate from \_\_\_\_\_\_\_.</p>
<p>Arachnoid cap cells</p>
<p>What is seen on pathology for meningioma?</p>
<p>basophilic psammoma bodies and whorls</p>
<p>What is seen with meningioma on angiography?</p>
<p>sunburst pattern of dural feeders</p>
<p>What does immunohistochemistry show for meningiomas?</p>
<p>positive for EMA and vimentin</p>
<p>What percent of meningiomas are grade I?</p>
<p>92%</p>
<p>What is the survival rate for grade II meningiomas? What percent recur?</p>
<p>30% in 5 year survival rate</p>
<p>50% recur in 1.5 years</p>
<p>What is Foster-Kennedy Syndrome?</p>
<p>optic atrophy in one eye and papilledema in the other with anosmia; seen occasionally with olfactory groove meningiomas</p>
<p>What are the survival rates for hemangiopericytoma?</p>
<p>5, 10, and15-year survival rates are 63, 37, and 21%, respectively</p>
<p>What is the recurrence rate with hemangiopericytoma?</p>
<p>70%</p>
<p>What's the pathology in hemangiopericytoma?</p>
<p>dense cellularity with frequent mitoses, increased reticulin, lobules around “staghorn” vascular channels, and the absence of whorls or psammoma bodies</p>
<p></p>
<p></p>
<p>What is the immunohistochemistry of hemangiopericytoma?</p>
<p>vimentin and CD 34 (no EMA which is meningioma)</p>
<p>What is seen radiographically with hemangioblastoma?</p>
<p>Sixty percent are cystic with an enhancing mural nodule abutting the pia and 40% are solid</p>
<p></p>
<p></p>
<p>What is seen on pathology for hemangioblastoma?</p>
<p>capillaries with hyperplastic endothelial cells and pericytes surrounded by stromal cells with vacuoles and lipids</p>
<p>What can be secrteted by hemangioblastoma?</p>
<p>EPO causing polycythemia vera</p>
<p>What is seen on immunohistochemistry in hemangioblastoma?</p>
<p>postive for vimentin (neg for EMA)</p>
<p>What is the recurrence rate with hemangioblastoma?</p>
<p>25%</p>
<p>What origin do craniopharyngiomas derive from?</p>
<p>squamous cells from Rathke's cleft cysts</p>
<p>What is unique about the cystic component in craniopharyngioma?</p>
<p>filled with “machine oil” fluid and cholesterol crystals that can elicit a granulomatous reaction</p>
<p>What percent of craniopharyngiomas are calcified?</p>
<p>100% in children, 50% in adults</p>
<p>What is seen on pathology in craniopharyngioma?</p>
<p>adamantinomatous pattern with rests of epithelial cells surrounded by a layer of columnar basal cells separated by a myxoid stroma of loose stellate cells, whorls of cells, and keratinized nodules of wet keratin</p>
<p>What are the two types of craniopharyngioma? What is more common overall? What is more common in adults?</p>
<p>adamantous and papillary</p>
<p></p>
<p>adamantous</p>
<p></p>
<p>papillary</p>
<p>Pinealocytes are derived from \_\_\_\_\_.</p>
<p>APUD cells</p>
<p>What stimulates melatonin secretion from pineal gland?</p>
<p>sympathetic input from superior cervical ganglion</p>
<p>What is the most frequent subset of pineal tumors?</p>
<p>germ cell tumors</p>
<p>What is seen on pathology with pinealcytoma?</p>
<p>medium-sized round cells, and Homer Wright rosettes with central fibrillar material</p>
<p>Where do pineoblastomas metastasize to?</p>
<p>bone, lung, and lymph node</p>
<p>Germ cell tumors originate from \_\_\_\_\_\_.</p>
<p>yolk sac endoderm</p>
<p>What is the most common pineal tumor?</p>
<p>germinoma</p>
<p>What's the most common germ cell tumor?</p>
<p>germinoma</p>
<p>What is seen on pathology for germinomas?</p>
<p>soft with large polygonal cells with clear cytoplasm and lacks necrosis or hemorrhage. There are interspersed lymphocytic infiltrates present</p>
<p>What is seen on tumor staining for germinoma?</p>
<p>placental alkaline phosphatase</p>
<p>What is the treatment for germinoma?</p>
<p>radiation to the entire neuroaxis</p>
<p>What serum markers are elevated in germinoma?</p>
<p>15% have increased bHCG</p>
<p>What serum markers are elevated in embryonal carcinoma?</p>
<p>bHCG and AFP</p>
<p>What is the key feature on yolk sac tumor pathology?</p>
<p>Schiller-Duval bodies</p>
<p>What serum markers are elevated with yolk sac tumors?</p>
<p>AFP</p>
<p>What serum markers are elevated in choriocarcinoma?</p>
<p>bHCG</p>
<p>What is the second most common germ cell tumor?</p>
<p>teratoma</p>
<p>What serum marker is elevated in teratoma?</p>
<p>CEA</p>
<p>Which pituitary tumors have a female predominance and which have a male predominance?</p>
<p>Female: prolactin and ACTH</p>
<p></p>
<p>Male: growth hormone</p>
<p>What percent of pituitary tumors do not secrete hormones?</p>
<p>25%</p>
<p>Pituitary tumors are associated with tumor syndrome?</p>
<p>MEN type 1</p>
<p>How are pituitary's stained and how is the breakdown?</p>
<p>H&E staining reveals acidophils (40%; PRL, GH, and follicle-stimulating hormone [FSH]/luteinizing hormone [LH]), basophils (10%; ACTH, and thyrotroph-stimulating hormone [TSH]), and null cells (50%)</p>
<p>What percentage of pituitary tumors are associated with an intracerebral aneurysm?</p>
<p>4-7%</p>
<p>What is the most common pituitary tumor?</p>
<p>PRL-secreting</p>
<p>What is the PRL serum cut off for prolactinoma?</p>
<p>> 150</p>
<p>What is the treatment for prolactinomas?</p>
<p>dopamine agonists (bromocriptine, pergolide, cabergoline)</p>
<p>What medical treatment is there for growth hormone secreting pituitary tumors?</p>
<p>octreotide (somatostatin analog)</p>
<p>What is Nelson's syndrome? What is seen on physical exam?</p>
<p>occurs when there is pituitary enlargement after adrenalectomy (that was performed for hypercortisolism thought to be peripherally mediated or as treatment for known Cushing’s disease</p>
<p></p>
<p>patients are hyperpigmented because of excess α-melanocyte-stimulating hormone production</p>
<p>What is seen on pathology in ACTH secreting tumors?</p>
<p>characterized by Crooke’s hyaline change in the pituitary gland (accumulation of intermediate filaments in the nontumoral corticotrophs in the presence of elevated steroid levels)</p>
<p>What causes primary empty sella syndrome?</p>
<p>incomplete development of the diaphragma sella;arachnoid bulges into the sella and may compress the pituitary gland</p>
<p>What are secondary causes of empty sella syndrome?</p>
<p>radiation, surgery, stroke, or intrapartum shock with ischemic necrosis of the anterior pituitary gland (Sheehan’s syndrome)</p>
<p>Where do rathke's cleft cysts originate from?</p>
<p>remnant of the craniopharyngeal duct that develops when the proximal part closes early and the distal cleft remains open between the pars distalis and pars nervosa</p>
<p>What is the most common location for epidermoid cysts?</p>
<p>CPA (50%)</p>
<p>What are the key characteristics of epidermoids on MRI?</p>
<p>similar to CSF except on FLAIR and DWI where it is hyperintense compared to CSF</p>
<p>What is seen on pathology for epidermoids?</p>
<p>stratified squamous epithelium around thin "dry" keratin</p>
<p>What is Mollaret meningitis?</p>
<p>recurrent aseptic meningitis with large cells in the CSF; it occurs in some patients with epidermoid tumors</p>
<p>Where are dermoids generally located?</p>
<p>midline: parasellar, fourth ventricular, or interhemispheric</p>
<p>How do dermoids appear on MRI?</p>
<p>similar to fat</p>
<p>How do dermoids causes meningitis?</p>
<p>filled with oily fluid and cholesterol that causes chemical meningitis when it leaks, and this may lead to vasospasm and death</p>
<p>Where do lipomas derive from?</p>
<p>meninx primitiva, a mesenchyme derivative of the neural crest with both ectodermal and mesodermal tissue that forms the dura, arachnoid, and arachnoid cisterns</p>
<p>Where are chordomas located?</p>
<p>60% clivus and 40% sacrum</p>
<p>Chordomas are derived from \_\_\_\_\_.</p>
<p>notochord remnants</p>
<p>What percent of chordomas metastasize?</p>
<p>25-40%</p>
<p>What is seen on pathology for chordomas?</p>
<p>lobulated, gray, soft, with sheets or cords of large vacuolated cells (physaliphorous or bubble-bearing cells) surrounded by mucin</p>
<p>What is seen on immunohistochemistry for chordomas?</p>
<p>positive for cytokeratin and EMA (epithelial) and S100 (mesenchymal, neural crest)</p>
<p>What is a chondroid chordoma?</p>
<p>variant that contains cartilage and has a better prognosis. Low-grade chondrosarcoma is negative for cytokeratin and EMA, but positive for S100</p>
<p>What is the survival for chordomas?</p>
<p>5-7 years</p>
<p>What percent of carotid body tumors are bilateral?</p>
<p>5%</p>
<p>Where do esthesioneuroblastoma arise from?</p>
<p>high nasal cavity from neurosecretory receptor cells or basal cells</p>
<p>What are the most common metastatic tumors to the skull?</p>
<p>breast, lung, prostate, multiple myeloma</p>
<p>What are the most common hemorrhagic mets to the brain?</p>
<p>melanoma, RCC, and choriocarcinoma</p>
<p>What are the most common mets to the brain?</p>
<p>Lung, breast, kidney, melanoma, and GI</p>
<p>What is seen on pathology with lymphoma?</p>
<p>diffuse perivascular infiltrate with small blue cells</p>
<p>What percent of lymphoma are B cell derived vs T cell derived?</p>
<p>B cell 98%, T cell 2%</p>
<p>What is the characteristic finding on pathology in Hodgkin's lymphoma?</p>
<p>Reed Sternburg binucleated cells</p>
<p>What is seen on pathology for plasmocytoma/multiple myeloma?</p>
<p>demonstrates mixed small and large cells of intermediate or high grade. There is concentric reticulin and Russell bodies (eosinophilic intracytoplasmic inclusions filled with immunoglobulins)</p>
<p>What is seen on pathology in Langerhans cell histiocytosis?</p>
<p>multinucleated giant cells</p>
<p>Birbeck bodies are seen on electron microscopy in \_\_\_\_\_\_\_ and look like \_\_\_\_\_\_.</p>
<p>langerhans histiocytosis</p>
<p></p>
<p>tennis rackets</p>
<p>What is Letterer-Siwe disease?</p>
<p>Acute fulminant disseminated histiocytosis. Occurs in children of ages 2–4 years. Death usually ensues within 2 years. It involves multiple organs</p>
<p>What is eosinophilic granuloma?</p>
<p>unifocal langerhans histiocytosis</p>
<p>Diabetes insipidus can be a symptom of what systemic oncologic disease?</p>
<p>histiocytosis X (langerhans histiocytosis)</p>
<p>What is the triad of Hand-Schuller-Chrisitian disease?</p>
<p>lytic bone lesions, exophthalmos, and diabetes insipidus</p>
<p>What do coloid cyts derive from?</p>
<p>endoderm, vesitigial third ventricular structure (paraphysis)</p>
<p>Coloid cysts are \_\_\_\_\_\_ on T1 and \_\_\_\_\_ on T2.</p>
<p>hyperintense</p>
<p></p>
<p>hypointense</p>
<p>Arachnoid cysts increase the risk of \_\_\_\_\_\_ due to \_\_\_\_\_.</p>
<p>SDH</p>
<p></p>
<p>tearing of bridging veins that transverse the cyst</p>
<p>What is the difference between the following:</p>
<p>Cavum Septum Pellucidum</p>
<p>Cavum Vergae</p>
<p>Cavum velum interpositum</p>
<p>Cavum spetum pellucidum: CSF between septum pellucidum</p>
<p></p>
<p>Cavum vergae: posterior extension of the above</p>
<p></p>
<p>cavum velum interpositum: in the third ventricle because of failure of fusion of the telae choroidea</p>
<p>Multiple schwannomas is associated with \_\_\_\_.</p>
<p>NF-2</p>
<p>Where is the most common intracranial location for a schwannoma?</p>
<p>superior vestibular nerve at the root entry zone</p>
<p>Trigeminal schwannomas occur most frequentyl in what cranial compartment?</p>
<p>middle fossa</p>
<p>What is seen on pathology for schwannomas?</p>
<p>biphasic pattern</p>
<p></p>
<p>Verocay bodies, anuclear material with palisading<br></br>cells, compact Antoni A (fusiform cells, reticulin, and collagen)</p>
<p>loose Antoni B (stellate round cells in stroma)</p>
<p>What is the immunohistochemistry for Schwannoma?</p>
<p>S100 positive</p>
<p>What's seen on pathology with neurofibromas?</p>
<p>loose wavy nuclei in a matrix with axons (detected by silver stain)</p>
<p>What is the immunohistochemistry on neurofibromas?</p>
<p>positive for vimentin, Leu7, S100, and occasionally GFAP</p>
<p>Which neurofibromas is pathognomonic for NF-1?</p>
<p>plexiform</p>
<p>What percent of germinomas of the pineal region have concomitant pituitary germ cell tumor?</p>
<p>5%</p>
<p>What is the classic presentation of a foramen magnum mass?</p>
<p>progressive weakness of the ipsilateral upper limb followed in order by the ipsilateral lower limb, contralateral lower limb, and then the contralateral upper limb</p>
<p>Hypothalamic/Chiasm gliomas are associated with \_\_\_\_\_\_.</p>
<p>NF-1</p>
<p>What is juvenile angiofibroma?</p>
<p>vascular, invasive, originates near the sphenopalatine foramen of adolescent males, most common benign nasopharyngeal tumor, and spreads along the foramen into the pterygopalatine fossa, orbit, sinus, etc</p>
<p>Visual loss in fibrous dysplasia occurs from what?</p>
<p>narrowing of the optic foramen</p>
<p>What is McCune-Albright syndrome?</p>
<p>polyostotic fibrous dysplasia, pigmented skin lesions, and endocrine abnormalities such as precocious puberty or GH-secreting pituitary tumors</p>
<p>Woven bone is characteristic of \_\_\_\_\_.</p>
<p>fibrous dysplasia</p>
<p>Pagets disease causes \_\_\_\_\_ early in the course and \_\_\_\_\_\_ late in the course.</p>
<p>destruction of bone
sclerosis</p>
<p>What drug can cause general calvarial thickening?</p>
<p>phenytoin</p>
<p>What metastatic tumors cause calvarial thickening?</p>
<p>breast and prostate</p>
<p>What is the clinical significance of parietal foramina? Is it unilateral or bilateral?</p>
<p>no clinical significance
bilateral</p>
<p>What skull defects can be present with NF-1?</p>
<p>absent sphenoid wing and lamboid suture defects</p>
<p>What is the key radiographic word for skull hemangiomas on imaging?</p>
<p>sunburst pattern</p>
<p>What is seen on MRI imaging with carbon monoxide poisening? What is seen on gross specimen?</p>
<p>B/l T1 hypointensity in the GP</p>
<p></p>
<p>b/l hemorrhagic necrosis of the GP</p>
<p>What is the most common orbital tumor in adults? Children?</p>
<p>melanoma</p>
<p></p>
<p>retinoblastoma</p>
<p>What is the most common orbital lesion in adults?</p>
<p>cavernous hemangioma</p>
What is a phakoma?
tumor-like retinal lesion
Most phakomatoses have what inheritance pattern?
autosomal dominant (sturge weber is an exception)
What does the NF1 gene code for?
neurofibromin
What percent of NF1 patients develop malignant peripheral nerve sheath tumors?
5%
What is the inclusion criteria for NF-1?
Must have two of the following:
- Six café au lait spots
- two neurofibromas
- one plexiform neurofibroma
- axillary or inguinal freckling
- an osseous lesion (sphenoid dysplasia or thinning of long bones or cortex)
- an optic glioma
- two or more Lisch nodules (iris hamartomas, only seen with NF1)
- a relative with NF1
Where do neurofibromas develop in NF-1?
posterior nerve roots
What is the gene in NF-2?
Merlin
In neurofibromatosis, spinal ependymomas are more common in _____ and spinal astrocytomas are more common in _____.
NF-2
NF-1
What is the inclusion criteria for NF-2?
Bilateral vestibular schwannoma or a relative with NF2 and one vestibular schwannoma or two of the following:
- neurofibroma
- meningioma
- glioma
- schwannoma
- post capsular cataract at a young age
What percent of people with vestibular schwannoma have NF-2?
2-10%
What is the transmission for NF-1?
AD
What is the transmission for NF-2?
AD
What is the transmission for Tuberous sclerosis?
AD, usually sporadic
What is the genetic cause of tuberous sclerosis?
mutations on Ch 9 (TSC 1, Hamartin) and Ch 16 (TSC 2, tuberin)
What is the classic triad in tuberous sclerosis?
- mental retardation
- seizures
- adenoma sebaceum (angiofibroma)
What percent of tuberous sclerosis have SEGA?
15%
What are common skin manifestations of tuberous sclerosis?
- angiofibromas
- ash-leaf hypopigmented macules
- shagreen patches (subepidermal orange peel fibrosis of the lower trunk)
What are “salaam” spasms? How are they treated?
flexion myoclonus seen in tuberous sclerosis
ACTH
What is the inheritance pattern for VHL?
AD
What is the genetic association of VHL?
mutation in VHL gene, tumor suppressor, on Ch 3
What percent of hemangioblastomas are in VHL patients?
20%
What is a Lindau tumor?
cerebellar hemangioblastoma
What is Lindau disease?
cerebellar hemangioblastoma with an extra CNS lesion
What is a von Hippel tumor?
retinal hemangioblastoma
Polycythemia vera is associated with which of the phakomatoses?
VHL
What percent of VHL patients have hemangioblastomas?Where are the most common locations?
60%
cerebellum (65%), brainstem (20%), spine (15%)
What is the diagnostic criteria for VHL?
multiple CNS hemangioblastomas or one CNS hemangioblastoma and one visceral lesion with a first-order relative with VHL
What is the transmission for Sturge weber?
sporadic
What is sturge weber disease?
phakomatoses characterized by a port-wine stain (facialnevus flammeus, often in the distribution of the first division of the trigeminal nerve) and ipsilateral venousmalformation of the leptomeninges (enhances), choroid of the eye, or choroid plexus
What is a characteristic finding of Sturge weber on imaging?
ipsilateral cortical (parietooccipital usually) tram track calcifications
What is another name for Osler Weber Rendu syndrome?
hereditary hemorrhagic telengectasia
What is the transmission for HHT?
AD
What mutations lead to HHT?
two genes involved in tumor growth factor beta (TGF-β) signal transduction pathways, HHT1 (endoglin, Ch 9) and HHT2 (ALK1, Ch 12)
What is HHT?
phakomatoses characterized by multiple mucocutaneous telangiectasias (in the skin, GI, and GU tracts), visceral vascular malformations (AVMs of the liver, lung, brain, and spinal cord), and rarely aneurysms
______ percent of patients with multiple AVMs have ________.
33%
Osler Weber Randu or Wyburn Mason syndrome
What are racemose angiomas?
retinal AVMs
What is wyburn mason syndrome?
Unilateral cutaneous vascular nevi of the face and trunk with retinal, optic nerve, visual pathway, and midbrain AVMs
What is the transmission of ataxia telengectasia?
AR
What is the defect in ataxia telengectasia?
defect in DNA repair
What characterizes ataxia telengectasia?
Oculocutaneous telangiectasias and cerebellar ataxia (caused by anterior vermian atrophy), increased risk of cancers and infection
Death in ataxia telengectasia usually occurs by ____.
20 years
What is Klippel–Trenaunay–Weber syndrome?
Angio-osteohypertrophy (overgrowth of vessels and bones). One limb is usually enlarged. It is associated with leptomeningeal AVMs (some spinal) and dermatomal cutaneous hemangiomas
What is epidermal nevus syndrome?
Ipsilateral nevus and bone thickening associated with mental retardation, seizures, hemiparesis, and gyral malformations
CO poisoning causes necrosis of what structure?
medial GP b/l
Cyanide binds ______ causing _____.
cytochrome oxidase
halt in cellular respiration
What is the world’s leading cause of mental retardation and birth defects?
fetal alcohol syndrome
What are the CNS effects of methanol consumption?
necrosis of lateral putamen and claustrum, optic nerve swelling and eventual blindness
Consumption of what alcohol DOES NOT cause acidosis?
isopropyl alcohol
What causes congenital fetal hydantoin syndrome?
dilantin use
Blockage of what receptors causes parkinson like side effects? What class of medications can cause it? How is it treated?
D1
antipsychotics
anticholinergics
What is Marchiafava-Bignami disease?
rare; demyelination and necrosis of the genu and body of corpus collosum; can be seen in alcoholics
What is the mechanism of MAO inhibitors?
increase serotonin, NE, and Epi levels/release
What is the mechanism for TCAs?
decrease uptake of amines
What are some side effects of lithium?
nephrogenic DI and asterixsis
What is the MOA of methotrexate?
folic acid antagonist
Subacute necrotizing leukoencephalitis is a side effect of what medication? What is seen on pathology?
methotrexate when used with radiation
coagulation necrosis, lipid-laden macrophages, absence of inflammatory cells, mineralizing angiopathy of the gray matter, and mainly affects astrocytes
What are some side effects of cisplatin?
hearing loss, visual loss, leukoencephalopathy, neuropathy
What chemotherapy agent can cause decreased ADH secretion?
vincristine
What is the MOA of vincristine?
impairs microtubule formation
Vincristine is generally used to treat ______.
lymphoma and leukemia
How is nitrosourea used in neurooncology treatment?
directly implanted in the tumor bed to treat GBM (serious side effects if given arterially)
What are two side effects of temozolomide that require regular monitoring?
neutropenia and thrombocytopenia
What is the treatment for arsenic poisoning?
2,3-dimercaptopropanolol (BAL)
Hyperpigmentation and hyperkeratosis of the palms and soles is seen in what toxicity?
arsenic
What are Mees lines?
transverse white lines on the fingernails seen with arsenic poisoning
What is the treatment for lead poisoning?
EDTA, BAL, penicillamine
What is the presentation for lead poisoning?
severe encephalitis in kidspure motor demyelinating peripheral neuropathy (especially WRIST DROP), anemai, gingival lead lines
What is the treatment for mercury poisoning?
penicillamine
Which metal toxicity causes parkinsonian symptoms?
manganese
What ocular findings are seen in Wernicke’s encephalopathy?
conjugate and lateral rectus palsies, nystagmus
Kosacoff psychosis is caused by a lesion in the _____.
dorsomedial thalamus
Berberi is due to a deficiency in ______. What is the clinical presentaiton?
thiamine (common in rice eaters)axonal degeneration/demyelination, autonomic dysfunction (orthostatic), rarely heart disease
What is Pellegra? What causes it?
triad: dermatitis, diarrhea, dementianiacin deficiency (common in corn eaters)
Subacute combined degeneration is caused by _______ and presents with _______.
B12 deficiencylower cervical and upper thoracic posterior column and lateral column spongiform degeneration
Alzheimer type II cells are associated with what disease?
hepatic encephalopathy
What is Reye syndrome?
hepatic encephalopathy in kids with flu or varicella who received ASA
Myxedema in adults can be caused by ______.
hypothyroidism
What is the mechanism of tetanus toxin?
cleaves synaptobrevin preventing glycine release from renshaw cells
What is the mechanism for botulin toxin?
cleaves SNAPs and SNARES, decreased ACh release at NMJ
What is the mechanism of black widow spider venom?
depletes ACh stores at NMJ causing cramps/spasms followed by weakness
What is the treatment for black widow venom?
Ca gluconate and MgSO4
What is the most common aminoacidopathy?
phenyketonuria
What is the inheritance of phenylketonuria?
AR
What are hallmark exam findings in PKU? How is it treated?
fair skinned blue eyed kid with musty odorlimit phenylalanine consumption
The aminoacidopathies are generally inherited in _____ fashion.
AR
What is the inheritance of homocystinuria?
AR
What is the deficient enzyme in PKU?
phenylalanine hydroxylase
