Part 4 Flashcards
Babies and children with failure to thrive, seizures, or crawling problems (floppy baby syndromes) associated with?
Genetic metabolic disorders:Tay Sachs–neuronal storage disorder–neuronal accumulation and neuronal deathLeukodystrophies–AR mutations associated with myelinMitochondrial encephalomyopathies–CNS and muscle; increase lactate levels in tissues, heteroplasmy
Leigh syndrome
mitochondrial encephalomyopathies–disease of infancyseizures, hypotonia, lactic acidosis
MELAS
mitoch encpmyopathy; lactic acidosis; STROKE LIKE episodes
MERRF
MYOCLONIC EPILEPSY and RAGGED RED FIBERS
pyramidal vs extrapyramidal
pyramidal: Cst and cbt; umn; motor fxnsextrapyramidal: involuntary reflexes and modulation of movement
tardine dyskinesia associated with what drug
benedryll
Vit B1 vs B12 def
B1 def: wernickes encephalopathy and korsakoffB12: subacute combined degeneration of spinal cord
Methanol can cause
blindness
Most neoplasms in adults in brain are of what lineage
GLIAL neoplasms of astrocytic lineage
In adults where are astrocytomas generally foundependymomas?Medulloblastomas?Cerebellar astrocytoma?pilocytic astrocytoma?
cerebral cortices 4th ventriclecerebellumposterior fossaposterior fossa
Most malignancies of adults are in what area of the brain?Children?
Adults: CEREBRAL CORTEXChildren: posterior fossa!!
Poorly differentiated glioma–is called what?
MEDULLOBLASTOMA
Infiltrating astrocytomas–diffuse vs anaplastic
diffuse=lower gradeanaplastic=higher grade
Glioblastoma is usually from what lineage?
usually astrocytic but can be oligodendrocytic or ependymal
Primary vs secondary glioblastomas
primary arises deNovo (cerebrocortical single mass lesion)secondary glioblastomas: arises from antecedent lower grade glial lesions and progress to increasing severity over time
Most common subtype of primary glioblastomas
Classic subtype
Most common subtype associated with secondary glioblastomas
Proneural type
IDH1 vs IDH2 in glioblastomas (oligodendrogliomas??)
IDH2 has better prognosis
Primary brain tumor vs infarction morphology
primary brain tumor shows edema but infarction typically does not
Where are glioblastomas found in adults?
cerebral cortices
Glioblastoma morphology
circumstene (serpentine??) necrosis with pseudopalisading with endothelial proliferation (atypical multiluminal vascular structures), significant atypia, sometimes giant cells and sometimes gemistocytic
Localized glial lesions
pleomorphic xanthoastrocytoma (children)–usually temporal lobe; good prognosisbrainstem gliomaspilocytic astrocytomasoligodendrogliomasanaplastic oligodendrogliomasependymomas
Oligodendroglioma morphology
coarse calcifications in cerebral cortex
ependymomas found where
paraventricular mass lesion
Adults with spinal ependymomas associated with?
NF2!!
- pilocytic astrocytoma, pleomorphic xanthoastrocytoma and brainstem glioma–what age?2. brainstem glioma where in children vs adults
- children2. brainstem in children and diffuse in adults and can be a glioblastoma
What is this neoplasm: cystic gelatinous serous mass, neural nodule in posterior fossa in children?
can be either a pilocytic astrocytoma or a cerebellar hemangioblastoma
Oligodendroglioma grading
is from 1-4 with 4/4 being a glioblastomaMost are 2/4; if anaplastic 3/4; if 4/4 its a glioblastoma
pilocytic astrocytoma grading
1/4
Oligodendroglioma morphology and prognosis
well circumscribed cyst, focal hemorrhage, calcification, anastomosing capillaries; IDH1 and IDH2 (better prognosis)
Ependymoma grading
2/4 but can have anaplastic types
Myxopapillary ependymomas occurs where? Associated with?
cauda equina; other ependymomas usually occur at 4th ventricleassociated with NF2
Ependymoma vs medulloblastoma location
if from floor of 4th ventricle, its ependymoma and if from roof of 4th ventricle its a medulloblastoma
choroid plexus papillomas
rare–too much CSF production
colloid cyst of 3rd ventricle
leads to obstructive hydrocephalus that is episodic
medulloblastoma vs ependymoma ages
medulloblastoma under 10 yearsependymoma upt0 20 or 30 years of age
How to tell bw primary lesion and metastatsis
primary lesion only has one lesion; metastasis usually many lesions and primary lesions more likely to have edema!
Neuronal tumors
Gangliomas: tumor with neuronal differentiation–mostly in adults, presents with seizures, most often in temporal lobeDysembryonic neuroepithelial tumor: present with seizures, most common in children in TEMPORAL LOBEcentral neurocytoma: within ventricular system
CNS primitive neuroectodermal tumor (PNET); blue cell tumor; see ROSETTES
Medulloblastoma
4 groups with differing prognosis in medulloblastoma
WNT–older children best prognosisSHH–infants young adultsGroup 3–MYC amplification iscochromosome 17 infants/children–WORST PROGNOSISGroup 4: isochromosome 17 without MYC amplification; SOME MYC amplification–intermediate prognosis
Highly aggressive tumor of very young and has similar location to MB but find skeletal muscle in itresponse to chemotheraphy vs MB?
Atypical teratoid/rhabdoid tumor (AT/RT)Does not respond as well to chemotherapy as MB
MBs and ependymomas must administer chemotherapy how
intrathecally bc expands from 4th ventricle into CSF so can get reoccurrence
CNS lymphoma vs other lymphomas
CNS lymphoma are multifocal, B cell associated; associated with EBV; STAYS in CNS and does not go out of it; other lymphomas do NOT involve the CNS!
Intravascular lymphoma
in B cell but tends to be infiltrative and often gets misdiagnosed as angiosarcoma
Most testicular tumors are what in origin
germ cell tumors
where are germ cell tumors usually found in brain in who? What are germ cell tumors called in brain vs testicles
pineal gland; males; japanesetesticular=seminomas; brain=germinomas
Pineal parenchymal tumors–what kind of differentiation; grading?
have NEURONAL differentiation; high grade in children but low grade in adults
Usually dural based and benign (but can still kill you if it compresses vital structures)
Meningiomas
Who gets meningiomas?
adults
characteristic morphologic feature of meningiomas
psammoma bodies (round concretions of calcium salts) but not just limited to meningiomas but also found in thyroid tumors and ovarian tumors
2 types of meningiomas and clinical features
microcstic or secretory; benign but may cause headaches
Can meningiomas be anaplastic?
YES; if in difficult location to excise; but NEVER metastasizes outside of CNS
What kind of neoplasms exhibit accelerated growth during pregnancy
meningiomas and pigmented lesions (nevus)
Metastatic tumors to the brain are usually primary tumors of what organs?
Lung (small cc), breast (infiltrating ductal cc) , skin (melanoma) (BCC and squamous CC–less likely), kidney (RCC), GI tract (adenocarcinoma–colon)
How are paraneoplastic syndromes referred to the brain different from other paraneoplastic syndromes?
-causes encephalomyelitis–both spinal cord and brain involvement–motor manifestations and bulbar and eye signs-Peripheral NS manifestations–peripheral neuropathies like in alcoholics or diabetics
Li-Fraumeni syndrome associated with what mutation?
p53
brain tubers (malalignments, atypical proliferations of glial cells and neural cells in cerebral cortices that form foci that give rise to seizures), hemartomas (giant cells in ventricles but not true neoplasm), renal angiomyolipomas, pulmonary lymphangioleiumyomatosis (women–grows in preg), cardiac rhabdomyomas all associated with??
TUBEROUS SCLEROSIS COMPLEX
Von Hippel Lindau disease associated with
cysts (including visceral), hemangioblastomas (cerebellar or retinal), RCC, pheochromocytoma, secondary polycythemia (elaborate erythropoetin from cerebellar hemangioblastomas)
NF1 and NF2–AD or ARwhich more commoneach associated with?
both ADNF1 more common than NF2NF2 associated with schwannomas, meningiomas and ependymomasNF1 associated with malignancy (MPNST)
Similarities and differences bw schwannomas and neurofibromas
Both have schwann cell lineagebut schwannomas found on pedicle of peripheral nerve sheath while neurofibromas expand nerves
Neurofibromas found in NF1 or NF2?
both but more common in NF1
Loss of merlin, see carney complex; Baracade bodies?–what neoplasm?
schwannoma–associated with CPA (acoustic neuroma) also associated with visual/occipital portion invovement
Neurofibromas–multiple superficial cutaneous neurofibromas–diffuse vs plexiform
plexiform=when sectioning neurofibromas, there are locules (septations that divide substance)–associated with malignant peripher nerve sheath tumors
schwannoma vs neurofibroma malignancy
shwannoma never malignant but neurofibromas can be esp if plexiform; NO SUCH THING AS MALIGNANT SCHWANNOMA
Trinton tumor
subtype of MPNST–contains heterologous material like skeletal muscle , glands, etc (can look like teratoma)
