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52 Cards in this Set
- Front
- Back
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dandy walker syndrome |
vermal agenesis cystically dilated 4th ventricle enlarged posterior fossa hydrocephalus |
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jourbert syndrome |
familial syndrome: episodic, abnormal eye movements, ataxia, mental retardation
CNS: agenesis of vermis, heterotopias in cerebellar white matter, dysplastic dentate nucleus, absent roof nuclei, dysplastic olives anomalies of pyramidal tracts, CN, tegmentum |
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olivary heterotopia |
malformation of brain stem-- fragment of olivary nucleus found along migration route (laterally or medially) associated w/ agyria and dandy-walker |
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syringomyelia |
tubular cavitation of spinal cord present in 2nd or 3rd decade (wasting of forearm and hand muscles, loss of arm reflexes) associated with chiari type 1 |
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tuberous sclerosis which cancer is it associated with? what proteins are associated |
AD cortical tubers: noduls extending from cortical surface subependymal nodules -- look like candle wax-- firm/calcified in lateral ventricles CAUSE subependymal giant cell astrocytoma!
cutaneous lesions: facial angiofibromas, adenoma sebaceum ocular: retinal giant cell astrocytoma hamartin and tuberin |
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what are the 2 X linked leukodystrophies? |
adrenoleukodystrophy and pelizaeus-merzbacher disease |
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krabbes disease? what deficiency is it? |
galactocerebroside you have loss of myelin, macrophages pick up myelin globoid cells are multnucleated on histology |
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tay sachs disease which deficiency? |
deficiency of hexosaminidase A, infantile gangliosidosis gryal atropy and loss of white matter
infantile form: ballooned neurons throughout CNS and PNS |
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niemann pick disease 2 groups-- what distinguishes them? |
group 1: sphingomyelinase deficient onset of first year, cherry red macula spot type A: neurovisceral type B: visceral only
group 2: NOT shingtomyelinase deficient (variable-- can be late onset dementia or ataxia in childhood) |
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gaucher cell |
course fibrillar material (crumpled tissue paper) spleen, lymph nodes, bone marrow, hepatic sinusoids CNS: gaucher cells in subcortical white matter, cerebellum associated myelin loss and gliosis neuronal loss in cortex, cerebellum, brain stem |
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mucopolysaccharidoses (MPS) |
specific enzyme defects, urinary excretion of GAGs, lysosomal storage of mucopolysaccharides features: coarse facial features, hepatosplenomegaly, corneal clouding
Hurlers: AR: alpha iduronidase hunters: X linked: iduronate sulfase
both have dermatan sulfate |
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rasmussen encephalitis |
causes epilepsy between 2 and 17, flu like illness before onset of seizures, not pathogen identified ONE cerebral hemisphere on imagin-- shows focal atrophy, occasional caviation pathcy inflammation, gliosis, neuronal loss, spongy cavitation, microglial activation |
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disease of myelin formation or maintenance by intrinsic (genetic) cause |
leukodystrophy |
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disease of normally formed myelin caused by extrinsic cause |
demyelinating disease axons are preserved, limited extent of remyelinatoin takes place |
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multiple sclerosis |
prototype of demyelinating disease - myelin degeneration with relative preservation of axons loss of oligodendorcytes and you have present inflammaotry cells reactive astrocytes and macrophages (active lesion) fibrillary astrocytic gliosis (chronic) breakdown of BBB |
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diagnostic tests for MS |
MRI of brain: you see fingers, white stuff along ventricles, old and new lesion detection of oligoclonal IgG bands by isoelectric focusing of CSF |
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what do oligoclonal bands mean? |
inflammation they are produced intra-thecaly- produced in CNS |
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acute disseminated encephalomyelitis |
follows viral infection (measles, varicella, rubella) happens at one time (unlike MS) OR after immunization! |
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progressive multifocal luekoencephalopathy (PML) |
caused by papova virus (JC virus) occurs in IMMUNOCOMPROMISED multiple foci of demyelination in subcortical white matter in early lesion, large necrotic lesion involving both cortex and white matter in late stage |
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AIDS luekoencepthalopathy |
very little histological evidence of myelin degeneration multinucleated giant cells expressing HIV viral antigens, very little response of acute inflammatory cells macrophages and microglia play important role AIDs dementia associated |
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central pontine myelinolysis (osmotic myelinolysis) |
caused by rapid correction of serum electrolyte imbalance, resutling in rapid or excessive serum sodium in hyponatremic patients demyelination in the center of pontine base (and lateral geniculate body and internal/external capsules) - decreased oligodendrocytes within demyelinating lesion |
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adrenolukodystrophy adrenomyeloneurpathy |
X linked! elevated long chain fatty acid demyelination in occipital white matter (ALD) and braintstem-spinal cord (AMN) lipid storage in macrophages in white matter, adrenal cortical cells, ledyig cells in testis CNS AND PNS
starts at occipital lobe and sweeps forward |
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metachromic leukodystrophy (MLD) |
AR arylsulfatase A deficinecy late infantile, juvenile, adult sulfatide accumulates in cell in CNS and visceral organs (stains brown) CNS and PNS |
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Krabbe disease (globoid cell leukodystrophy) |
AR infantile galactosylceramidase deficiency globoid cells in demylinating white matter CNS and PNS |
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metabolic diseases of brain: hepatic encepalopathy |
brain dysfunction induced by liver failure etiology: incresaed nitrogenous waste products in blood due to decreased liver clearance
clinical presentation: confusion, altered consciousness, asterixis, coma |
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metabolic diseases of brain: wernicke encepalopathy |
brain dyfunction inudced by vitamin B1 (thiamine) deficiency - most common in alcoholics, but alos in malnourished -occur in periventricular cortex, basal ganglia, hypothalams, midbrain, cerebellum
clinical presentaiton: opthalmoplegia, ataxia, confusion (korsakoffs syndrome)
tx: thiamine replacement |
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metabolic diseases of brain: kernicterus |
brain dysfunction induced by increased bilirubin etiology: hyperbilirubinemia (uncongugated)- accumulates in gray matter, induces death
present in babies with hyperbili due to premature birth, Rh incomtab, drug/genetic def that result in anemia
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metabolic diseases of brain:
central pontine myelinolysis |
osmotic demyelination of brainstem neurons rapid iatrogenic corection of profound hyponatremia clinical presentation: rapid onset of quadraparesis, dysarthia/dysphagia |
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subacute combined degeneration |
degen of posterior and lateral columns of spinal cord due to vit B12 deficiency most commonly due to pernacious anemia have symmetrical spastic paresis, impaired position and vibration sense, gait ataxia, dementia prognosis best if you have less than 3 mo of gait disturbance (restore with vit b12 supp) |
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metabolic diseases of brain: wilsons disease (hepatolenticular degeneration) |
AR, abnormal copper metabolism with accumulation in tissues liver diease, cognitive decline, behavioral changes, parkinsonism (basal ganglia degen), seizures, migrains, dperession, corneal deposit (kayser-fleischer rings)
dx: LFTs, brain MRI, low copper and ceruloplasmin levels, liver biopsy (gold standard) tx: low copper diet, copper chelating therapies |
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tuberous sclerosis complex |
AD epilepsy, adenoma sebaceum, behavior and developmental problems tubers, subependymal nodules giant cell astrocytomas |
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neurofibromatosis 1 |
AD, cafe au lait spots, axillary freckling, lisch nodules on iris, neurofibromas (bumps), plexiform neurofibromas (large disfiguring masses), opitc nerve gliomas
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neurofibromatosis 2 |
AD, bilateral, 8th nerve sheath tumors (famously of bilateral 8th nerves), meningiomas, less same skin stuff as NF1 |
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sturge-weber |
sporadic, port wine stain in trigeminal distribution with involvement of underlying meninges and secondary epilepsy |
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von-hippel lindau |
AD, hemangioblastomas of the CNS, no skin stuff, pheochromocytomas, other visceral tumors |
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causes of acute bacterial meningtis in neonate: child: adult: |
neonate: group B strep, listeria, enteric bacilli child: S pneumoniae, N meningitidis, H influenza adult: S pneumo, N meningitidis |
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cause of chronic meningitis |
- mycobacteria (TB): base of brain: giant cells, caseating - fungi (Crytpococcus): spherical, budding yeast, thick polysaccharide captsule-- immunocompromised-- SLIMY! soap bubbles in basal ganglia - spirochetes (syphilis, lyme disease) sarcoidosis |
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which two viruses spread retrograde along axons? |
HSV 1 and rabies virus HSV stays latent in trigeminal ganglion |
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where do these viruses localize? HSV-1: polio JC virus rabies varicella-zoster lymphocytic choriomeningitis virus |
HSV1- encephalitis-- temporal and frontal lobes, also posterior columns polio- anterior horn cells JC virus-- oligrodendrocytes (PML) rabies- hippocampus and cerebellum (negri bodies) varicella-zoster virus-_ DRG lymphocytic choriomeningitis virus-- leptomeninges |
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primary amebic meningoencephalitis: cause? how do you get it? tx? |
naegleria fowleri swimming in fresh water contaminated or in neti pots amphotericin B |
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TORCH congenital infections of brain |
Toxoplasmosis Other (syphillis, HIV) Rubella C: CMV H: herpes simplex (HSV-2 acquired during delivery, while HSV1 acquired through placenta) |
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what precedes 2/3 of cases of guillian- barre syndrome? |
acute, influenza like illness-- campylobacter jejuni is most common |
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what is myasthenia gravis associated with? |
thymoma also has diplopia, pstosis, bulbar and proximal limb weakness (AB against Ach receptors-- postsynaptic) pyridostigmine to treat |
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lambert eaton syndrome |
pre-synaptic NMJ syndrome AB against vg Ca channels hyporeflexia/arefelxia autonomic symptoms: dry eyes and motuh, sexual dysfunction associated with small cell cancer of lung
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what is the most common form of muscular dystrophy? what is it associated with? |
myotonic dystrophy AD myotonia-- delayed muscle relaxation weakness, muscle wasting, frontal balding, temporal wasting, cataract, conduction defects with cardiomyopathy, endocrinopathy, hypersomnia, low intelligence |
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mcardles disesae pompes disease |
mcardles: phosphorylase deficiency (glycogen metab disorder)-- exercise induced pain acid alpha glucosidase deficiency-- AR |
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dermatomyositis |
skin raish, heliotrope (face) and gottrons sign (hands) associated with malgianancy proximal muscle weakness with elevated CK |
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inclusion body myositis |
most common inflammatory myopathy after age 50 finger flexors and quads accumulate amyloid B and phosphorylated tau |
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4 key things with parkinsons |
tremor, rigidity, bradykinesia, postural instability (substantia nigra) synucleionopathy-- lewy body cytoplasmic inclusions |
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inheritance of huntingtons? what is affected? |
AD CAG expansion atrophy of caudate and putamen, dilation of lateral ventricles anticipation (worse in later generations |
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hemiballismus |
subthalamic nucleus |
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friedrichs ataxia |
AR ataxia caused by GAA repeats on frataxin gene posterior columns and spinocerebellar tracts |
