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136 Cards in this Set
- Front
- Back
What is this disease process?
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Polymyositis
Thought to represent a cell-mediated immune response to antigens on muscle fibers. ENDOMYSIAL inflammation and invasion of muscle fibers by CD8+ T cells and associated segmental fiber necrosis. |
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What is this lesion?
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Inclusion body myositis
Endomysial inflammation and muscle fiber invasion by lymphocytes, endomysial fibrosis, muscle fiber hypertrophy and cytoplasmic bodies. Characteristic rimmed vacuoles strongly support the dx. Abnormal filaments are seen on EM (as above) & definitively distinguish inclusion body myositis from other inflammatory myopathies. |
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Major difference between myositis and muscular dystrophies?
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In muscular dystrophy, inflammation is associated with NECROTIC FIBERS
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Muscle biopsy
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Duchenne Muscular Dystrophy
Endo & perimysial fibrosis Atrophy & hypertrophy = size var Necrotic fibers “Hyaline fibers”: large, dark, glassy Increased internal nuc |
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Muscle biopsy
What stain enzyme is unaffected? |
Ragged red fibers of mitochondrial myopathy
MERRF (myoclonus epilepsy with RR fibers) MELAS (mitochondrial encephalomyopathy with lactic acidosis & stroke) Kearns-Sayre syndrome Multisystemic signs and sxs Succinate dehydrogenase (SDH) complex II only component of respiratory chain entirely encoded by nDNA. SDH activity unaffected by mutations in mtDNA and shows intense histochemical staining. |
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ALS findings
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loss of motor neurons in the ANTERIOR and VENTRAL HORN cells and lateral / corticospinal tracts
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Patient with encephalitis. What is the most likely causative agent?
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HSV1: Bilateral hemorrhages temporal horns (medial temporal lobes, insula, inferior frontal cortex)
HSV2: meningitis, less severe |
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Presents with seizures. Tumor often in temporal lobe.
What immunostain? |
ganglioglioma, WHO grade I
has EGBs + synapto, CD34 |
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Drug-resistant partial seizures
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Dysembryoplastic neuroepithelial tumor
"floating" neurons, myxoid background, delicate vasculature |
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B12 deficiency
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spongy myelinopathy of ascending sensory tracts in the spinal cord.
pins and needles, wide based gait, Romberg sign, loss of proprioception |
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schwannomas vs meningiomas in
NF1? NF2? |
NF1 - SPINAL schwannomas
NF2 - Bilateral acoustic schwannomas - Meningiomas |
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Genes associated with:
Medulloblastoma GBM astrocytoma oligodendroglioma |
Medulloblastoma: PTCH
GBM: EGFR astrocytoma: p53 oligo: LOH 1p, 19q |
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Sx of Lewy body disease?
protein? Location? |
slowly progressive dementia, visual hallucination, cogwheel rigidity, stooped posture
alpha-synuclein Substantia nigra AND cortex |
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Sx of Pick's Dz?
protein? pathology? |
Frontotemporal dementia: Speech aphasia, Behavioral changes, Pacing
Tau & ubiquitin Found in dentate, amygdala, septal nuclei |
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Patient with skull fracture after being in a fight. Conscious and coherent for about 2 hours. Then began to feel sleepy with progressive loss of consciousness. Dx? What vessel usually affected?
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Epidural hematoma
Middle meningeal artery |
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Dx?
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Secondary (Duret) hemorrhages as a result of uncal herniation. Head trauma produces contusions in the brainstem usually at the sides, not the middle.
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What are the characteristics of this pathology?
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Hydrocephalus
tonsillar herniation Compression of the aqueduct of Sylvius "Breaking deformity of the dorsal midbrain |
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Types of Arnold Chiari malformation
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1: Congenital. Downward displacement of medulla and cerebellar tonsils. Syringomyelia.
2: Tonsillar herniation, hydrocephalus, myelomeningioma, kink in the medulla, syringomyelia 3: Further herniation of the cerebellum below the foramen magnum forming an encephalocele in addition to spina bifida. 4: Hypoplasia/aplasia of cerebellum with spina bifida. Incompatible with life |
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syndromes assoc with Chiari malformation
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Ehlers Danlos
Marfan |
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The glial pathology illustrated above is most likely to be a consequence of ?
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Liver disease including posthepatitic and alcoholic cirrhosis, Reye's syndrome, and urea cycle enzyme deficiencies. Alzheimer type 2 astrocyte. Recognizable by enlarged, lucent nuclei. Not associated with Alzheimer's disease.
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Findings in chronic Wernicke's disease (thiamine deficiency)
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Atrophy of mamillary bodies, hypothalamus, dorsal medial thalamic nucleus and paraventricular nuclei of the brainstem.
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Brain in Wilson's disease
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degeneration of basal ganglia associated with abnormal copper levels in liver and brain
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Lesions in this area of subcortical white matter (LFB stain for myelin) are characteristic of ?
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Acute disseminated encephalomyelitis
PERIVENULAR DEMYELINATION - postviral or post-vaccine |
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Consequences of meningeal infection caused by the organisms shown in the above mucicarmine stain include ?
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Cryptococcus: Little inflammatory reaction in the meninges
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An acute MS plaque is distinguishable from a chronic plaque by ?
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large numbers of macrophages and enlarged astrocytes
(lymphs too but they are also seen in chronic) |
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Lesion above is the result of ?
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rapid correction of hypernatremia of hypnatremia
Central Pontine myelinolysis |
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This squamous cell lesion located in the suprasellar space.
adult? |
craniopharyngioma
pituitary adenoma |
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IHC choroid plexus carcinoma
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TRANSTHYRETIN!!
cytokeratin, S100 and occasionally GFAP KIDS |
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What is the timeline for seeing this?
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6-12 hrs Contracted, eosinophilic neurons
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Neocortical bx from a pt with rapidly progressive dementia is indicative of ?
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Transmissible spongiform encephalopathy
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Inclusion associated with demyelinating disease is identified with what immunostain?
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SV40 T antigen
x-reacts with papovavirus (JC) that causes progressive multifocal leukoencephalopathy. Inclusions reside in oligodendrocyte nuclei. |
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Genetic abnormality associated with this neoplasm?
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PTCH gene mutations in desmoplastic nodular medulloblastomas
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Two features essential for diagnosis of this?
What genetic abnormality is associated with this tumor? |
Glioblastoma is a WHO grade IV glial neoplasm. 2 features essential for the dx: palisaded necrosis and endothelial proliferation.
EGFR amplification common in glioblastomas and anaplastic astrocytomas. |
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Dx and genetic abnormalities?
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oliogodendroglioma WHO grade II, adults, superficial cerebrum
LOH at 1p and 19q present in a subset "fried egg" cells and "chicken-wire" vasculature |
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Found at autopsy. Scattered neocortical neurons as above.
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Diffuse Lewy body dementia
Lewy bodies in cortical neurons. Restricted to brainstem nuclei in Parkinsons. |
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What is at the center?
The argyrophilic structures in this disease process are composed of abnormal polymers of ? |
Neurofibrillary tangles and neuritic plaque with amyloid (beta amyloid) core in Alzheimer's
tau protein |
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What mutation is associated with the above?
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p53 mutations common in astrocytomas
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40-yo man with intracerebral hemorrhage. Dx?
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AVM has intervening brain tissue vs. cavernous hemangioma which does not.
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MRI showed ring-enhancing mass in right cerebral hemisphere. What is the dx?
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Encysted taenia solium
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Spindle cell neoplasm removed from spinal subdural space. EMA+, vimentin+, S100 -, HMB45 - , desmin - , MIB1 labeling index <1%
Most common genetic abnormality? |
Meningioma, WHO grade I
chromosome 22 |
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dx?
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Subdural hematoma due to traumatic rupture of bridging veins.
Often due to sudden acceleration and deceleration as in whiplash, shaken baby. |
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Thought to be congenital. Will increase in size over time. Occurs at branch points in circle of Willis. Rupture is associated with hypertension. Causes what type of hemorrhage? What is missing in the vessel wall? Most common location?
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berry aneurysm causes subarachnoid hemorrhage. Devoid of elastic lamina.
circle of Willis: middle cerebral artery |
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Inferior frontal and anterior temporal contusions from contrecoup lesions.
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tabes dorsalis
associated with syphilis loss of axons confined to dorsal columns |
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Brain on the right is from a patient who suffered from?
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expanded triple repeats in the huntingtin gene.
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This pathology in the substantia nigra is associated with?
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Bradykinesia and resting tremor, Parkinsons
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Lesion in the subependymal area of the lateral ventricle is associated with?
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tuberous sclerosis
TSC-1 hamartin on 9q, TSC-2 tuberin on 16p subependymal giant cell astrocytoma (SEGA) almost entirely intraventricular. Gemistocytes and mast cells. |
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This is characteristic of ?
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Diffuse fibrillary astrocytoma (WHO grade II) looks like a space-occupying lesion. Glioblastomas look more variegated with areas of necrosis. Mets and meningiomas would be well-circumscribed.
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The pathology above is characteristic of ? Locations in adults and children?
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Ependymoma (WHO grade II)
adult (peak 35 yrs): spinal child (peak 5yrs): intracranial, floor of 4th ventricle Perivascular pseudorosettes (the nuclear-free zones around blood vessels) are typical of ependymomas. |
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Where is this usually found?
Tx? Histological features? |
Juvenile pilocytic astrocytoma, well-circumscribed, found in cerebellum of children. Most frequent brain tumor in children. WHO grade I
Surgical resection may cure. Rosenthal fibers (GFAP+) and eosinophilic granular bodies (EGB) |
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This postnatal condition is associated with?
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Kernicterus
High serum levels of unconjugated bilirubin most often due to severe hemolytic anemia in the newborn. |
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2nd most common brain tumor in children and most common malignant tumor in children.
What else is true about this tumor? |
Medulloblastoma is most frequently seen in the cerebellum often vermis. Most common PNET originating in the brain. Disseminates through CSF. May show features of neuronal, glial differentiation.
i17q most common genetic abnormality. |
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What is this? What vessels/nerves are compressed?
What is a common cause? |
Uncal herniation: medial temporal lobe (uncus) compresses against tentorium cerebelli.
CN III and PCA compressed. thromboembolic occlusion of proximal middle cerebral artery |
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What is this? What is compressed?
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Subfalcine herniation. Cingulate gyrus under falx. ACA compressed.
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Tonsillar herniation
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Cerebellar tonsils thru foramen magnum. Brain stem/respiratory centers compressed.
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This pathology represents? Sxs?
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Acute atherothrombrotic occlusion of MCA.
Most common infarct territory and results in contralateral hemiplegia, sensation loss, aphasia (if dominant hemisphere) Hemorrhagic infarct (blood staining) is the result of occlusion with subsequent reperfusion and extravasation of blood. |
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CMV infects:
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ependymal cells
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HIV-1 infects:
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cerebral microglial cells, monocytes, macrophages
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JC virus infects:
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oligodendrocytes, astrocytes
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HSV-1 infects:
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cortical neurons
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Premature infant with hypotensive episode and is successfully resuscitated. Cranial ultrasound reveals bilateral areas of congestion in the subcortical white matter that evolved to small cystic areas over the following several weeks. Dx?
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Periventricular leukomalacia: white matter degeneration next to lateral ventricles leading to axonal and myelin loss and eventual scarring.
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Germinal matrix hemorrhages
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Only primary intraventricular hemorrhage. Associated with perinatal period. Found in subventricular zones at the angles of the lateral ventricles at the coronal level of the head of the caudate nucleus.
Grade 1: bleeding in germinal matrix only, not in ventricles. Grade 2: bleeding in germinal matrix and ventricles without ventricular enlargement. Grade 3: Ventricular enlargement Grade 4: blood in extended areas of the brain beyond germinal matrix. |
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Porencephaly
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ischemic or hypoxic lesions that occur earlier in gestation causing tissue necrosis and eventually a cyst lined by gliotic white matter. Correspond to arterial circulation.
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Status marmoratus
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Results from ischemic or hypoxic lesions to the basal ganglia in early infancy resulting in gliosis and aberrant myelination.
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Obstruction at the leptomeninges (post-hemorrhage, -meningitis)
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Communicationg hydrocephlus
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Obstruction of CSF flow in ventricles (tumor, infection)
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Noncommunicating hydrocephalus
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Compensatory dilation of ventricles from cerebral atrophy.
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Hydrocephalus ex vacuo
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Beta -A4 amyloid deposition in cerebral vessels is related to the degree of the patient's hypertension. T or F?
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False
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What defines a subacute cerebral infarction?
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Many macrophages, blood vessels with endothelial hyperplasia, chronic inflammatory infiltrates, and a reactive astrogliosis that surrounds the core of the infarct. 1-3 weeks
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What is the defining feature of a chronic infarct?
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Cavitary lesion.
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When do neutrophils peak in a cerebral infarction?
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48-72 hours
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Huntington's disease histologically shows?
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neuronal loss and gliosis in the striatum
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"Popcorn" appearance on imaging with dark halo.
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Cavernous angioma.
No blood shunting as in AVM. |
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Cells most sensitive to hypoxia
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hippocampal pyramidal cells of CA1
Pyramidal neocortical neurons (layers 3, 5, 6) Purkinje cells and striatal neurons |
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What condition is this often associated with?
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Hypertension. Berry aneurysm causing subarachnoid hemorrhage.
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"Puff of smoke" on imaging. Usually young men. What is the histology?
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Granulomatous arteritis characterized by epithelioid histiocytes. Moyamoya disease. Progressive stenosis of basal intracerebral arteries.
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Brain slide. What fungal species?
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Aspergillus vasculitis
because Aspergillus likes arteries |
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TB meningitis
Bacterial meningitis usually has pus formation. |
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Temporal giant cell arteritis
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What type of infection is this associated with? What other histological feature might you see?
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viral infection associated with microglial nodules
neuronophagia (pictured above) also perivascular lymphocytic infiltrates |
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Causes intense leptomeningeal and cortical acute inflammation and loss of motor neurons of the anterior horn in the chronic phase.
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Poliomyelitis
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Which cells can these be found in?
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Purkinje cells, neurons of cerebral cortex, hippocampal neurons.
Negri bodies, rabies |
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Common in what location? What grade?
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Pleomorphic xanthoastrocytoma common in cerebrum
WHO grade II |
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What is required to upgrade a oligodendroglioma WHO grade II to an anaplastic oligodendroglioma WHO grade III?
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vascular proliferation and necrosis
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Infiltrating astrocytoma
deep white matter, adults |
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Criteria for anaplastic astrocytoma?
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mitoses
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where is this tumor usually found?
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myxopapillary ependymoma located in filum terminale
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What kind of structure in what tumor?
What type is associated with MYC gene? |
Homer-Wright rosettes (pseudorosettes, surround neuropil) in a medulloblastoma
Large cell/anaplastic variant associated with MYC gene, worse prx. |
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What is this process?
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Perivascular infiltration and satellitosis in oligodendroglioma
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EMA+, vimentin+
S100- |
Clear cell/chordoid meningioma
atypical meningioma, WHO grade II |
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What are the criteria for atypical meninigioma, WHO grade II?
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mitoses > 4/10HPF
brain parenchymal invasion small cell morphology sheeting high N/C ratio geographic necrosis prominent nucleoli |
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Criteria for anaplastic meningioma, WHO grade III?
Name two types of these. |
>20 mitoses/10HPF
Papillary, rhabdoid |
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elevated very long chain fatty acid levels in tissues and serum is associated with what disease?
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Adrenoleukodystrophy X-linked
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Low sulfatase levels
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Metachromatic leukodystrophy
AR 22q13.2 defect in gene encoding enzyme arylsulfatase |
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Very high concentration of N-acetyl-aspartic acid (NAA) in the urine
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Canavan's disease
aspartoacylase (ASPA) deficiency encoded by gene ASPA on chrom 17pter-p13 |
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Krabbe's disease
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deficiency in enzyme galactocerebrosidase AR
GALC gene on 14q31 build-up of sphingolipid |
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TORCH infections
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Usually via placenta or at birth
Toxoplasma, others (syphilis, VZV, parvovirus B19), rubella, CMV, herpesvirus HIV Commonly have periventricular calcifications esp around basal ganglia. Hydrocephalus, seizures, failure to thrive, abnormal development. |
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Creuzfeldt-Jacob plaque
misfolded proteins, neuronal cell body vacuolation |
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Myelomeningoceles are most common at which of the following vertebral column levels?
A) Atlanto-occipital junction B) Cervical C) Coccygeal D) Lumbosacral E) Thoracic |
D.
Myelomeningoceles are an extension of spinal cord/nerve & leptomeninges through defects in the vertebral column. Most common at the lumbosacral level. There may be an associated Chiari II defect. |
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The myxopapillary subtype of ependymoma is most often found in which of the following areas?
A) Clivus B) Conus and filum terminale C) Posterior fossa D) Septum pellucidum E) Third ventricle |
B. Myxopapillary ependymomas may be seen at any level of the spinal cord, but predominately affect the conus-cauda equina region.
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The image provided is from a Gomori trichrome-stained section of a muscle biopsy from a 45-year-old woman with muscle weakness, ophthalmoplegia, exercise intolerance, and an elevated serum lactate level. What other stains might show abnormalities in this patient’s biopsy?
A) Alkaline phosphatase and periodic acid-Schiff (PAS) B) ATPase and adenylate deaminase C) Congo red and myophosphorylase D) Esterase and acid phosphatase E) Succinate dehydrogenase (SDH) and cytochrome oxidase |
E. Ragged red fibers are typically seen in the setting of mitochondrial myopathies. Other findings in this setting include increased subsarcolemmal staining on SDH stains ("ragged blue fibers") and cytochrome oxidase-negative myofibers
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Berry aneurysms occur most commonly in which of the following areas?
A) Basilar artery B) Middle cerebral artery C) Posterior cerebral artery D) Posterior communicating artery E) Vertebral artery |
B. Most "berry" aneurysms are located in the anterior (anterior cerebral and middle cerebral) circulation, particularly the middle cerebral artery trifurcation, as opposed to the posterior circulation.
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Subarachnoid hemorrhage at the base of the brain, predominately around the 4th ventricle exit foramina (Luschka and Magendie) in a premature infant is most characteristic of which of the following?
A) Amyloid angiopathy B) Arteriovenous malformations C) Berry aneurysm rupture D) Hypertensive hemorrhage E) Intraventricular hemorrhage |
E. Subarachnoid hemorrhage is frequently associated with underlying berry aneurysms and vascular malformations. It can also be seen with amyloid angiopathy. The particular pattern described, however, implies intraventricular hemorrhage which is draining out to the subarachnoid space secondarily through the 4th ventricle foramina. Hypertensive hemorrhage in the basal ganglia of an adult may rupture into the ventricles and also drain in this pattern. However, in this premature infant, this is probably the result of a germinal matrix hemorrhage.
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A pineal tumor in a 30-year-old woman that is synaptophysin positive and moderately cellular, with small cells, no necrosis, and 2 mitoses/high power field (HPF) is most likely which of the following?
A) Leukemic involvement of the pineal region leptomeninges B) Medulloblastoma C) Pineal parenchymal tumor of intermediate differentiation D) Pineoblastoma E) Primary central nervous system lymphoma |
C. Pineal parenchymal tumor of intermediate differentiation is a pineal tumor with a peak incidence in the fourth decade. The cellularity, atypia and mitotic activity are (as the name suggests) intermediate. The entire range of pineal parenchymal tumors is synaptophysin positive.
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The image provided is from a fourth ventricular lesion found incidentally at autopsy in a 74-year-old man. Which of the following statements is true of this lesion?
A) Cytogenetic studies are necessary for definitive diagnosis. B) It is a WHO grade IV lesion. C) It is a subtype of choroid plexus papilloma. D) It occurs much more commonly in women than in men. E) Symptomatic lesions may be cured with complete surgical excision. |
E. The subependymoma is an intraventricular, WHO grade I lesion that occurs most commonly as an incidental finding in middle-aged and elderly patients with a male predominance. It is a variant of ependymoma characterized by clusters of bland nuclei in abundant, fibrillary stroma. Symptoms may occur due to ventricular obstruction, but surgical removal is generally curative.
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Subdural hematomas are especially common with a history of which of the following?
A) Alcohol abuse B) Angiomas C) Choroid plexus avulsion D) Hypertension E) Middle meningeal artery tears |
A. Underlying lesions include a number of conditions which can lead to brain atrophy such as aging and alcohol abuse. Any state which leads to numerous falls such as with alcohol abuse may be associated also. Coagulopathies (including iatrogenic) and tumors may also cause subdurals.
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The WHO grade that best fits the image seen here from a dural based meningioma in a 10-year-old girl would be which of the following?
WHO grades I - V |
Meningiomas are grade II (atypical) if they have increased mitoses (4 or more per ten high power fields), or three or more of the following: increased cellularity, small cells with high N/C, prominent nucleoli, sheet-like growth or spontaneous necrosis.
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Atypical teratoid / rhabdoid tumor is characterized by which of the following?
A) Immunoreactivity for HHV 8 B) Occurrence in adults age 40-60 years C) Loss of nuclear reactivity for INI 1 D) Predominantly located in the frontal lobes E) Strong expression of germ cell markers |
C. Atypical teratoid rhabdoid tumors are high grade pediatric tumors occurring predominantly in the posterior fossa. Unlike most other neoplasms they lack INI 1 nuclear staining.
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Granular cell tumors of the neurohypophysis are characterized by which of the following?
A) Aggressive behavior B) Cytoplasm filled with phagolysosomes C) Keratin positivity D) Predominance in childhood E) Strong GFAP positivity showing identity with pituicytoma |
B. Granular cell tumors are benign tumors occurring in the neurohypophysis, infundibulum, and posterior pituitary. They are characteristically composed of cells filled with phagolysosomes. They are considered distinct from pituicytomas.
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Which of the following infections does NOT typically infect neurons?
A) Cytomegalovirus B) Herpes simplex virus C) Progressive multifocal leukoencephalopathy D) Rabies E) Varicella-zoster virus |
C. Progressive multifocal leukoencephalopathy (PML) is a white matter disease characterized by oligodendroglial intranuclear inclusions and bizarre (also infected) astrocytes. Cytomegalovirus (CMV) infects endothelial cells as it does elsewhere, but also likes neurons, and has both intranuclear and cytoplasmic inclusions. Herpes and varicella are particularly fond of neurons and their inclusions are intranuclear. Rabies causes intracytoplasmic inclusions called Negri bodies in hippocampal neurons and Purkinje cells.
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Temporal arteritis is histologically characterized by which of the following?
A) Accumulation of amorphous eosinophilic material in the vessel wall B) Histiocytes, lymphocytes and possibly giant cells in the media C) Necrosis, granulomatous reaction and prominent eosinophils D) Neutrophils and fibrinous necrosis throughout the vessel wall E) Spontaneous dissection of the vessel wall |
B. Temporal (giant cell) arteritis shows infiltration by mononuclear cells such as histiocytes and lymphocytes. Giant cells may be seen in reaction to the fragmented elastic lamina also. Eosinophils are not prominent as in certain other vessel-centered granulomatous processes.
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Components of the Dandy-Walker malformation typically include?
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enlarged posterior fossa
vermian hypoplasia or aplasia large midline cyst in the cerebellum. |
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The most common cause of spontaneous intraparenchymal pontine hemorrhage is caused by which of the following?
A) Central pontine myelinolysis B) Fungal infection C) Hypertension D) Pilocytic astrocytoma E) Telangiectasia |
C. Although tumors, fungal infections and even central pontine myelinolysis may cause hemorrhage, the relative incidence of hypertension and hypertensive hemorrhage is higher.
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Infants with the Arnold-Chiari malformation usually have which of the following?
A) Hypotelorism B) Nevi C) Neurofibromas D) Webbed necks E) “Z-shaped” cervico-medullary junction |
The Arnold-Chiari (Chiari type II) malformation is characterized by a small posterior fossa, vermis extending into the foramen magnum, "beaking" of the midbrain, and a "Z-shaped" medulla.
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The vascular lesion most likely to cause devastating neurological complications ?
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AVM
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Holoprosencephaly is generally commonly found in infants with which of the following?
A) Cyclopia B) Palmar creases C) Sacral dimples D) Schwannomas E) Umbilical hernias |
Holoprosencephaly is characterized by midline defects in the brain and face of varying severity. The most severe forms in the brain have no divisions into lobes (alobar) and may be associated with severe midline facial defects such as cyclopia.
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A pediatric tumor in the posterior fossa demonstrating a cyst with mural nodule is most likely which of the following?
A) Astrocytoma B) Ependymoma C) Hemangioblastoma D) Leukemic leptomeningeal involvement E) Medulloblastoma |
A. Pilocytic astrocytomas in the cerebellum generally have both cystic and solid components and are known for the classic cyst with mural nodule pattern radiologically. Hemangioblastomas may also show this pattern, but would be much less common in the pediatric age group.
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Paraganglioma characteristically has a serum elevation of ?
A) dopamine and serotonin. B) epinephrine and metanephrine. C) epinephrine and normetanephrine. D) norepinephrine and metanephrine. E) norepinephrine and normetanephrine. |
Pheochromocytoma and paraganglioma are tumors of the adrenal medulla and extra-adrenal sympathetic paraganglia, respectively, that secrete catecholamines and cause hypertension. While pheochromocytomas synthesize both epinephrine and norepinephrine, less than 60% of paragangliomas are functional, and secrete norepinephrine which is metabolized to normetanephrine. The non-secreting tumors can be followed with chromogranin A levels.
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The image provided is from a lateral ventricular tumor resected from a 6-year-old boy with epilepsy and multiple skin lesions. The patient’s tumor cells are likely to have an abnormality of which chromosomal region?
A) 3p B) 9q34 C) 10q23 D) 22q12 E) 17q11 |
B. TSC-1
SEGA |
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ATPase-stained at pH 9.4. What are the dark staining myofibers?
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type II myofibers, fast twitch or white
produce energy through anaerobic glycolysis pathway, fatigue quickly type I myofibers, slow twitch or red fibers contain more mitochondria and myoglobin, utilize aerobic oxidation, slow to fatigue |
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Neurogenic changes include?
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small, angulated muscle fibers
small, round muscle fibers (infants) target fibers fiber type grouping (pictured above) grouped atrophy |
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What is this? what does it indicate?
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grouped atrophy
chronic denervation |
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What disorder might be associated with this?
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Peripheral neuropathy
target fibers (NADH stain) |
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What does the above picture indicate?
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Dystrophic changes
Muscle fiber size variability (front pic) Endomysial fibrosis Increased central nuclei (> 3% of muscle fibers) Segmental necrosis of muscle fibers, often with myophagocytosis Regeneration Ring fibers Fatty infiltration and replacement Myocyte hypertrophy Fiber splitting (pictured above) |
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Genetic inheritance of Duchenne's muscular dystrophy?
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X-linked recessive.
Xp21.2 dystrophin gene, very large gene 427 kD protein located at inner surface of the plasma membrane. Deficiency results in influx of extracellular Ca++ and ultimate destruxn of myocyte. |
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what is this disease process?
Increased risk of ? Antibodies? EM shows? |
Dermatomyositis
disease of humoral immune system w/ immune complex and complement deposition w/in & around capillaries w/in muscle --> perifascicular pattern of muscle injury (atrophy). Perivascular and perifascicular inflammation consisting of B and CD4 T-cells Increased risk of internal malignancy Anti-Jo-1 and anti-Mi-2 Intracytoplasmic tubuloreticular inclusions. |
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This image illustrates the microscopic findings in muscle of a 6-month old child w/ hypotonia. most likely dx?
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Werdnig-Hoffman disease/spinal muscle atrophy (SMA)
AR motor neuron d/o (Neurogenic changes) mutation of survival motor neuron gene (SMNI) |
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Ubiquitin stain. What is this lesion?
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Skein-like inclusion seen in (specific for) Amyotrophic lateral sclerosis (ALS).
Bunina body pictured above. Dysfxn and death of motor neurons. Degeneration of pyramidal tracts consisting of loss of axons w/ 2dary breakdown of myelin sheaths. Loss of motor neurons occurs in ventral horns of spinal cord & motor nuclei of CNs V, VII, IX, X, XI, XII. 20% of familial cases linked to mutations of the Cu/Zn superoxide dismutase gene (SOD1). |
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Section of sural nerve stained w/ osmium tetroxide-toluidine blue is shown. What process does this indicate?
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Segmental demyelination
Onion bulb" formations are concentric layers of Schwann cell processes and collagen around an axon. Caused by repetitive segmental demyelination & regeneration of myelin and can cause hypertrophic neuropathy. Onion bulb formations are the histological hallmark of Charcot-Marie-Tooth disease |
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Genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body.
Most common cause is duplication of a large region on 17p that includes gene PMP22. What pathologic features can be seen? |
Charcot-Marie-Tooth disease
Segmental remyelination Onion bulbs Fibrosis of endoneurium Loss of myelinated fibers |
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68-yo man experienced bilateral weakness of the legs and pins-and-needles sensation. Weakness progressed to paraplegia w/in 25 hrs. Episode of diarrhea preceded onsets of sxs by 10 days. CSF had mild elevation of protein but w/out cells. Electrodxstic evaluation showed slowing of motor conduction velocity. Weakness progressed & spread to arms, trunk, and face. 2 wks post onset of sxs pt began to improve gradually. What dx? What process is occurring at the cellular level?
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Guillain-Barre syndrome
Associated prior viral (CMV, EBV) illness or diarrhea (C. jejuni) Earliest pathologic event is migration of lymphocytes across walls of venules into endoneurium where they transform into "activated" lymphs. Monocytes enter endoneurium thereafter. Segmental demyelination by monocytes. CSF: elevated protein, no inflammatory cells |
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Most common type of neuromuscular d/o caused by exogenous toxins is?
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distal axonopathy
Affect longest nerve fibers in the body and often begin w/ feelings of paresthesia, pain, an dother sensory sxs in the feet. Sxs are symmetric and gradually extend proximally and affect upper extremities. |
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Name 4 congenital myopathies
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Nemaline myopathy
Myotubular myopathy (Centronuclear) Central Core disease Multicore or minicore disease In central core or multicore disease myofibers have one or more central areas of disorganized filaments without mitochondria. |
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Nemaline myopathy
Clusters of rod bodies composed of alpha-actinin, main protein of Z-bodies |
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Centronuclear (myotubular) myopathy
characterized by small myofibers with central nuclei, and central areas without contractile filaments, like immature fetal muscle. |
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In ALS spheroids (arrow) are defined as ?
What other agents exhibit spheroids in the nerve as a distinguishing feature? |
swellings over 20 microns in diameter
acrylamide, disulfiram, hexacarbon solvents |
