Flashcards in Rubin's Qs Deck (103):
6 y/o boy w/ painful sores on upper lip. Flu 1 week ago. Lesions = 0.2-0.4cm vesicles w/ focal ulceration.
What is it?
HSV1 = Herpes labialis (cold sores, fever blisters)
--painful vesicles w/ shallow ulceration
--Histo= edge of ulcer --> large, multinucleated epithelial cells w/ "ground glass" homogenized nuclei
74 y/o man w/ 15yr Hx of DM hospitalized for end-stage kidney disease. Tongue, inner side of lips, buccal mucosal covered in white, sightly elevated soft patches.
What is it?
40 y/o woman hospitalized for massive neck infection developed over 3 days after extraction of impacted wisdom tooth. High fever, lower jaw and entire neck swollen, red, painful. Cultures: mixed bacterial flora w/ aerobics and anaerobics.
What is most likely?
Ludwig angina = rapidly spreading cellulitis or phlegmon, originates in submaxillary or sublingual space
--risk after tooth extraction, which cause hairline fractures in lingual cortex of mandible --> access
45 y/o woman w/ 1yr Hx of dry mouth and eyes. Exam: bilat enlarged parotids. Biopsy: infiltrates of lymphocytes forming germinal centers.
What is it?
What happens to parotids later?
Sjogren Syndrome = inflammation of salivary and lacrimal glands.
--late disease --> atrophy w/ fibrosis and fatty infiltration of parenchyma of affected glands
16 y/o girl w/ sore throat for 4 months, feels lump in throat. Exam: 1cm cystic lesion at base of tongue.
From what anatomic structure did this developmental lesion arise?
--Thyroid gland descends from base of tongue
--Thyroglossal duct cyst can occur any point along path
--Symptoms = dysphonia, sore throat, mass
2 y/o girl w/ excessive irritability. Exam: multiple, small superficial ulcers of oral mucosa. Ulcerations heal spontaneous over next 5 days.
What is it?
--characterized by painful, recurrent, solitary or multiple, small ulcers of oral mucosa.
--Histo: lesions --> shallow ulcer covered by fibropurulent exudate
6 y/o boy w/ painful sore in mouth. Exam: small, elevated, focally ulcerated red-purple gingival lesion. 1cm soft red mass surgiclly removed. Histo: highly vascular granulation tissue, marked acute and chronic inflammation
What is it?
Pyogenic granuloma = reactive vascular lesion in oral cavity
--Minor trauma --> nonspecific microorganism invasion
--most frequent in gigiva
--characteristic: elevated, red/purple, soft mass w/ smooth, lobulated, ulcerated surface.
60 y/o man, chronic alcoholic w/ facial ulcers. Exam: large ulceration in mouth and facial tissue w/ focal exposure of bone. Culture: Borrelia vincentii
What is it?
Acute necrotizing ulcerative gingivitis (Vincent angina)
--infection of either fusiform bacillus, or B. vincentii
--Risk: decreased resistance from: inadequate nutrition, immunodeficiency, poor oral hygiene
--Characteristic: punched-out erosions of interdental papillae.
4 y/o boy from Uganda has hearing loss in right ear developed 3 yrs ago after acute illness. If infection is viral, what was most likely cause?
Mumps = most common cause of deafness among postnatal viral infections
--Rubella = usually bilatera, w/ permanent loss of cochlear and vestibular function
82 y/o man w/ painless swelling below right ear growing slowly for 1 year. Exam: cystic lesion. FNA: scanty brown fluid, lyphoid cells and epithelial cells w/ abundant granular eosinophilic cytoplasm. This disease = more common in men, usually after 50, most common monomorphic adenoma.
What is it?
Warthin tumor = benign neoplasm of parotid gland
--cystic glandular spaces embedded in dense lymphoid tissue
64 y/o man w/ sore on gums. ExamL mutiple gingival abcesses adjacent to teeth, excessive mobility of several teeth.
What is it?
Periodontal disease = disorders of sot tissue surrounding teeth --> eventual loss of supporting bone.
What slow-growing malignant neoplasm of salivary gland tends to recur after surgery?
Adenoid cystic adenoma
What biphasic neoplasm of parotid tumor has mixture of epithelia and stromal elements?
What is the most common sequel to pulpitis?
26 y/o man complains of persistent nasal blockage, runny nose, and headache. Multiple nasal polyps identified and resected. Histo: benign
What's the cause?
Chronic allergic rhinitis
55 y/o man w/ recurrent nosebleeds now with persistent runny nose, fever, malaise and 20lb weight loss. Exam: "saddle nose" deformity. CXR: patchy infiltrates. Urinalysis: 2+ hematuria.
Antibodies to what cellular structures expected?
--Wegener granulomatosis (Granulomatosis w/ polyangiitis) --inflammatory disease, 90% have ANCA
60 y/o woman w/ 5mo Hx of "sinus pressure". 2cm firm lesion on right lateral nasal wall. CT: paranasal sinus involvement. Biospy: epithelial nests proturding into submocasa, uniform cellular proliferation w/o atypia.
What caused this?
HPV 6 and 11 -- Papilloma= histologically diagnosed as squamous or inverted (grow downward into supportive tissue)
--Papillomas = most common tumors of nasal cavity.
8 y/o boy w/ 3day Hx of fever and sore throat. 38C, 88BPM, RR33. Exam: tonsils enlarged, boggy, coated w/ purulent exudate.
Tonsillar swab most likely to grow what?
Streptococcus pyogenes = most common etiologic agent in acute suppurative tonsilitis
70 y/o woman w/ gradual hearing loss. If it is conductive, what is the most likely cause?
Osteosclerosis = formation of new spongy bone about satpes and window --> progressive deafness.
--Autosomal dominant hereditary defect
--Most common cause of conductive hearing loss in young and middle-age in US
33 y/o man from China w/ lump in his neck. Exam: painless, anterior cervical adenopathy. Large necrotizing mass in posterior nasopharynx w/ obstruction of both eustachian tubes. Biopsy: sheets of malignant cells w/ large nuclei.
What is it? What is associated pathogen?
Nasopharyngeal carcinoma, EBV
--Most have anti-EBV IgA in serum
24 y/o man w/ right ear pain for 3 days. Recent scuba diving trip to Caribbean. Afebrile. Otoscope: bulging, right tympanic membrane
What is it?
Acute serous otitis media
--Sudden changes in atmospheric pressure --> obstruction of eustachian tube
34 y/o man w/ hearing loss. Hx of multiple ear infections over 20 years, recent chronic suppurative otitis media.
What is most likely complication?
Cholesteatoma = mass of accumulated keratin and squamous mucosa that results from growth of squamous epithelium from external ear canal through the perforated eardrum into the middle ear
40 y/o man w/ 2month Hx of painless lump in left jaw. Xray: 2cm multilocular lesion w/ smooth cyst-like appearance, smooth periphery, expansion of bone, thinning of cortex. Dx: ameloblastoma.
What cell/structure does it arise from?
--Ameloblastoma = tumors of epithelial odontogenic origin
67 y/o woman w/ 60 pack year history smoking has white discoloration of mouth. Exam: white plaques on buccal mucosa, tongue, and floor of mouth. Biopsy: severe epithelia dysplasia.
What is it?
What neoplasm is she at risk for
Leukoplakia -- reactive, preneoplastic, and neoplastic lesion of oral mucosal.
--Squamous cell carcinoma -- 10-12% malignant transformation risk.
45 y/o man w/ painless mass on neck. 4cm firm, movable tumor at angle of left jaw. Biopsy: myoepithelial cells intermigled w/ myxoid, mucoid, and cartilaginous areas.
What is it?
Pleomorphic adenoma -- most common tumor of salivary glands
--Biphasic appearance = epithelia and stromal
--Local recurrence likely
Female neonate w/ gross deformity on lower back. Exam: subcutaneous lesion w/ disorganized tissue w/ entrapment of nerve roots.
What is it? (Meningocoele/Meningomyelocoele/SB Occulta/Rachischisis)
Meningomyelocoele -- exposes spinal canal, causes nerve roots to be entrapped
--Not meningocoele = herniation of meninges only as fluid-filled sac
--Not raschschisis = extreme defect, no recognizable spinal cord
Where is CSF produced and reabsorbed?
Production: Choroid plexus at lateral ventricles and roof of 3rd ventricle
Reabsorption: Arachnoid villi, into dural sinuses
--Polymycrogyria = excessve number of small, irregularly sized, randomly distributed gyri
--Arrhinencephaly = absence of olfactory tracts
--Lissencephaly = cortical surface of cerebral hemisphere is smooth or has imperfectly formed gyri
--Pachygyria = broad, reduced number of gyri
2wk neonate has frequent generalized seizures, failure to thrive. Exam: cleft palate, low-set ears, holoprosencephaly. What is the cause?
Chromosomal abnormality -- trisomies 13 to 15 mosc common
50 y/o man w/ "staggering" gait, and "lightning pain" in hands and legs. PMH: aortic aneurysm, aortic insufficiency. Exam: impaired vibration, touch, and pain in lower extremities. Dies of pneumonia. Autopsy: obliterative endarteritis of meningial vessels, atrophy of posterior columns of spinal cord.
What is it?
Tertiary Syphilis, specifically Tabes dorsalis = chronic fibrosing menigitis --> constricts posterior root of spinal cord
--sensory nerves --> lacinating pain in extremities
--proprioception --> gait disturbances (ataxia)
76 y/o man w/ progressive memory loss and disorientation. Small pupils, but react to light. Normal muscle tone. Normal LP. EEG: diffuse slowing. Brain CT: moderate atrophy
What is it?
66 y/o female singer has difficulty remembering favorite songs. Worsens over next several months, becomes withdrawn from family. Exam: dementia, gait disturbance. MRI: mild cerebral atrophy. Normal CSF. EEG: periodic spike wave complex. 1 month later: bedridden, unresponsive...dies.
What is it? What amyloid? (AB, AA, AE, AL, APrP)
CJD -- APrP -- Spongiform encephalopathy
--Prion protein with abnormal 3D conformation --> aggregation
88 y/o woman w/ Alzheimer dies of CHF. Brain autopsy: bilateray gyri atrophy, particularly fontal and hippocampal.
What else can be found?
Hydrocephalus ex vacuo -- enlargement of ventricular system as compensatory response to severe brain atrophy.
35 y/o man w/ Hx of behavioral and personality changes, unusual involuntary movements. Exam: Dystonia, chorea. Mom and maternal grandfather had similar symptoms. Mom died in psych institute, grandfather committed suicide.
In what brain region would atrophy be expected?
Caudate nuclei --Huntington disease
--chorea, deteriorating cog. function, severe emotional disturbance
--moderate frontal cortex atrophy, lateral ventricle enlargement b/c loss of normal convex curvature of caudate nuclei, w/ lesser involvement of putamen
20 y/o woman w/ mild scoliosis has 3month Hx of difficulty walking. Exam: dysarthria, lower-limb areflexia, extensor plantar reflexes, sensory loss. Genetic: trinucleotide repeat expansion.
Length of repeat directly related to what life-threatening complication?
Cardiomyopathy -- Friedreich ataxia
--Autosomal recessive, usually onset before 25, 30 year course before death
--Hallmark: combined upper and lower limb ataxia.
--Associated w/: scoliosis, DM, hypertrophic cardiomopathy
--Highest level of frataxin gene in heart and spinal cord
35 y/o woman w/ urinary incontinence and blurred vision for 2 months. Normal fundoscopy. 2mo later: double vision, left finger numbness. MRI: plaques in brain and spinal cord. Next several months: some plaques diminish, new ones appear.
Plaques have selective loss of what?
Myelin --Multiple sclerosis = chronic demyelinating disease
--Affects sensory and motor function, exacerbations and remissions over many years
--40% have eye problems (visual field, blindness, diplopia)
What are characteristics of end-stage MS lesions?
Thick-walled blood vessels
Moderate perivascular inflammatoin
Secondary axon loss
45 y/o woman in ED after MVA. 10 hours after admission: severe headache and blurred vision. Xray: temporal-parietal bone fracture. She died
What pathological finding in brain?
Epidural hematoma -- blood between calvaria and dura
--usually from severed middle meningeal artery
68 y/o woman w/ difficulty getting out of chair. Exam: reduced facial expression, resting tremor, cogwheel rigidity, bradykinesia. Dies of CHF 10 years later. Histo: spherical, eosinophilic inclusions in cytoplasm
What are these things called? What protein? Where?
Lewy Bodies -- a-synuclein -- Substantia Nigra -- Parkinsons
50 y/o woman w/ 3mo Hx of fatigability, smooth sore tongue, numbness and tingling of feet, leg weakness. Hb 5.6, WBC 5100, Plt 240K. Megaloblastic anemia not reveresed by folate.
What is it?
B12 Deficiency (pernicious anemia) --> Subacute combined degeneration --> lesions in posterolateral spinal cord.
--Hallmark: burning sensation in soles of feet, other parasthesias
--Rapidly progressive, poorly reversible
--Symmetric myelin and axonal loss at thoracic spinal cord level
60 y/o man w/ smoking Hx and chronic bronchitis has difficulty walking. Exam: stiff, stooped, expressionless face, monotonous voice, resting tremor. Dies
Substantia nigra pallor associated w/ what biochemical change?
--Substantia nigra is component of extrapyramidal system that relays info to basal ganglia using DA synapses.
--Pars compacta degeneration
60 y/o chronic alcoholic found in state of mental confusion. Exam: horizontal diplopia, strabismus, amblyopia, nystagmus, ataxia, peripheral neuropathy. Develops lobar pneumonia and dies. Brain autopsy: calcification and brownish discoloration of atrophic mammilary bodies. Petechiae in quadigeminal plate and periaqueductal regions.
Thiamine deficiency --> Wernicke syndrome --> encephalopathy
--Rapid onset: thermal dysregulation, altered consciousness, opthalmoplegia, nystagmus, ataxia
--Lesions in hypothalamus and mamillary bodies, periaqueductal regions, pontine tegmentum
15 y/o boy rushed to ED for toni-clonic seizure, 4wk after spelunking expedition. Exam: irritable, agitated, difficulty swallowing fluids. LP: lymphocytes. Becomes delirious, coma, dies. Brain autopsy: lymphocytic infiltrates around small vessels, neuronophagia. Some neurons contain eosinophilic inclusions.
What are these inclusions called?
Negri bodies -- pathognomonic for Rabies
--Spelunking --> bat bite?!
--Brainstem destruction --> difficulty swallowing, fluids aspiration risk --> "hydrophobia"
--pathognomonic = perivascular cuffing by lymphocytes
10month old girl to ED w/ severe, unremitting watery diarrhea. Systolic 80, 120BPM. What is potentially lethal complication of systemic dehydration?
Venous sinus thrombosis = abrupt sagittal sinus thrombosis leads to bilateral hemorrhagic infarctions of frontal lobes
54 y/o woman dies 48hrs after severe head injury from MVA. Just before her death, her left pupil becomes fixed and dilated.
What was the cause of death?
--Intracranial hemorrhage --> cerebral edema --> medial temporal lobe on side of hematoma compressed against midbrain--> downward displacement --> compressed oculomotor nerve
--Pupil on side of lesion becomes fixed and dilated
Brainstem autopsy of patient who died of transtentorial herniation will show what?
Duret hemorrhages = secondary hemorrhages, midline, occupy upper midbrain into midpons
18 y/o man in MVA has massive trauma. CT: multiple intracerebral hemorrhages. Patient dies after 6 months in coma. Autopsy: cystic cavities in frontal and temporal lobes in areas of prior hemorrhage.
Phagocytic activity of what cells caused this?
Microglial cells = macrophage-derived phagocytic cells of CNS
22 y/o boxer has concussion. Blow deflected his head upward and posteriorly. Loss of consciousness presumed b/c functional paralysis of neurons in what part of the brain?
Brainstem reticular formation
--Consciousness requires activity of reticular formation
--Upward, posterior deflection imparts quick torque on brainstem and causes functional paralysis.
68 y/o obese woman has a stroke and dies. Brain autopsy: extensive arteriolar lipohyalinosis and numerous Charcot-bouchard aneurysms.
What caused the pathogenesis of these findings?
--Lipohyalinolysis = deposition of lipid in and hyalinazation of arterial walls
--Charcot-bouchard aneurysms = located along trunk of vessels, not at bifucations
12 y/o boy falls from upper story window of his home. MRI: subdural hematoma over left hemisphere.
What is the source of blood in intracranial bleeding?
--Subdural = torn brdiging veins in subdural space
--Spontaneously stops after 25-50mL b/c of local tamponade
5 y/o comes to ED w/ fever (39.5), vomiting, and convulsions. Exam: cervical rigidity and pain in neck and knees.
Acute inflammation in what anatomic region of brain?
Leptomeninges -- inflammation of pia/arachnoid
What is Kernig sign? When is it seen?
Knee pain with hip flexion
--seen in meningitis
--along with Brudzinski sign = knee/hip flexion when neck flexed
3day neonate has fever of 38.7 and convulsions. Dies. Autopsy: purulent exudate in subarachnoid space at base of brain.
What is most likely cause of suppurative meningitis in this neonate?
E. coli = prime cause of meningitis in newborn b/c they have not developed resistance to Gram (-) bacteria
--Mother gives IgG, but E. coli requires IgM for neutralization
1 y/o boy has delay in motor development, progressive muscle weakness, blindness, and dies. Brain autopsy: swollen neurons containing numerous lysosomes filled w/ lipid.
What is it?
Tay- Sachs = autosomal recessive inborn deficiency of hexosaminadase A --> accumulation of ganglioside GM1 in CNS neurons
--Retinal involvement --> macular transparency, cherry-red spot
--Lipid droplets in cytoplasm of distended nerves
--Electron microscopy --> whorled "myelin figures"
59 y/o woman has headache and mild fever for 3 days. Exam: confused and inattentive. Next day: generalized seizure. LP: increased, but clean CSF. CSF PCR: HSV1.
Infection involves what part of the brain?
Temporal lobes --HSV targets temporal lobe
What is the hallmark sign of CNS viral infections?
Perivascular cuffs -- lymphocytes around arteries and arterioles
2day old neonate has convulsions. Images: mild hydrocephaly, calcification of periventricular areas and brain stem. Started on ABX, but dies 2 days later. Brain autopsy: pink intranuclear inclusions in Purkinje cells.
What is the etiology?
Cytomegalovirus (CMV) -- TORCH infection --crosses placenta to cause encephalitis in utero.
--CMV particles = intranuclear, intracytoplasmic inclusions in neurons and astrocytes
48 y/o man w/ AIDS has headache, fever 38.7, persistent cough, CD4 below 500. Culture stains w/ india ink.
What is the pathogen?
Cryptococcus neoformans -- opportunistic in immunocompromised
--Contaminated CSF mixed w/ India ink --> clear halo
30 y/o woman comes to ED w/ "worst headache' of herlife. 37C, 135/85, 90BPM, no muscle weakness or ataxia. Images: subarachnoid hemorrhage. Angiogram: saccular aneurysm.
Most likely pathogenesis of aneurysm? Where is most likely
Congenital weakness -- Circle of Willis
--Berry aneurysm are consequence of arterial defects that are presumed to arise during embryogenesis
--Muscle layer of vessel that bifurcates fails to interdigitate adequately across branch point
62 y/o man w/ Hx of poorly controlled HTN, DM, has sudden onset weakness. 200/115, 80BPM. CXR: cardiomegaly, pulmonary edema. Brain CT: intraparenchymal hemorrhage. He becomes unresponsive then dies.
Likely site of cerebral hemorrhage?
Basal ganglia/thalamic area
--Stroke locations: 65% basal ganglia-thalamus, 15% pons, 8% cerebellum
42 y/o man w/ AIDS dementia complex dies of respiratory insufficiency secondary to Pneumocystitis carinii. Brain autopsy: mild atrophy, dilation o lateral ventricles.
How to describe pathogenesis of neuronal injury?
Release of neurotoxic cytokines from macropages
27 y/o man has dementia, weakness, visual loss, ataxia 1 year after receiving kidney transplant.
What is it?
Progressive Multifocal Leukoencephalopathy (PML) --JC virus
--Widely disseminated discrete foci of demyelination near gray-white junction and brainstem
--PML is terminal complication in immunosuppressed
45 y/o man w/ AIDS has productive cough, fever, night sweats. CXR: ill-defined consolidation of periphery of right middle lobe, mediastinal lymphadenopathy. Sputum culture: acid-fast bacilli. Develops severe headache and neck rigidity.
What is it? What area is likely affected
Tuberculous meningitis -- prediliction for base of the brain
--Infarcts often found in striate arteries
65 y/o homeless man brought w/ severe lethargy. Treated w/ IV fluids, but lapses into coma and dies. Brain autopsy: soft lesion in tegmentum of pons.
What caused his death? What was risk factor?
Central pontine myelinolysis -- Alcoholism
--Arises from overly rapid correction of hyponatremia in alcoholics or malnourished people
79 y/o man in ED has severe right-sided weakness, increasing difficulty using right hand over past several months, now walks w/ great difficulty. PMH: colon cancer resected 5 yr ago, poorly controlled HTN, 2pk/day smoker 50 pack year. Brain CT: discrete globoid lesion in frontal lobe w/ prominent halo of edema. Biopsy: neoplastic cells.
What is it most likely?
Metastatic cancer -- not primary b/c of: discrete appearance, globoid shape, and prominent halo of edema
34 y/o IV drug abuser has 24hr Hx of fever and shaking chills. 38.7C, 92BPM, 140/80, harsh systolic murmur. Culture: S. aureus. Patient suddenly develops left-sided paralysis.
Images would likely reveal occlusion of what arteries?
--Septicemia --> Bacterial endocarditis --> infected thromboemboli
--Middle cerebral artery has trifurcation = emboli risk
56 y/o man to ED after collapsing while shoveling snow. No pulse, but resuscitated. Lab and ECG show infarct of left ventricle. Dies 2 week later of cardiac tamponade.
Brain autopsy would likely reveal necrosis of Purkinje cells and selective loss of neurons in which brain region?
Hippocampus -- inadequate perfusion --> large (Purkinje, Hippocampal pyramidal) neurons at most risk for necrosis
30 y/o woman has massive trauma in MVA and dies 4 days later from respiratory insufficiency. Horizontal brain autopsy: numerous petechiae scattered throughout white matter.
What caused this?
Fat embolism -- small emboli (fat or air) can occlude capillaries
--distal capillaries become hypoxic and permeable --> petechiae (most commonly in white matter)
70 y/o man w/ Hx of senile dementia and recent MI dies of multiple organ system failure after occlusion of superior mesenteric artery. Brain autopsy: aneurysmal dilation of basilar artery.
What is most common complication of this pathologic finding?
Thrombosis -- most common complication of atherosclerotic aneurysm
--Less likely are hemorrhage and dissection
55 y/o man in ED after near-drowning. No pulse, but resuscitated, never regains consciousness, dies 3 days later. Brain biopsy: watershed zone infarction in left hemisphere.
Pathogensis of this?
Prolonged hypotension -- no anastomoses between terminal branches of cerebral arteries (called watershed zones).
52 y/o man comes to ED 2hr after MVA. Denies striking his head, but was thrust forward and backward. Next day: wife notices he's lethargic, comatose when arriving.
Diffuse axonal injury -- shearing forces between different brain regions --> axonal shearing injuries
45 y/o man w/ weakness and wasting of right hand for 8 months. Exam: fasciculations of hand, speech impaired. Dies 6 years later of respiratory insufficiency. Autopsy: atrophy of ventral roots of spinal cord.
What did he have?
Amyotrophic Lateral Sclerosis (ALS) -- progressive weakness and wasting of extremities and eventual impairment of respiratory muscles
--Affects: anterior horn, motor nuclei of brainstem, UMN of cerebral cortex
8mo old boy has severe motor, sensory, and cognitive impairments. Brain biopsy: white matter disease characterized by "globoid cells" accumulation. Absence of B-galactosidase activity.
What does he have?
Krabbe disease -- deficiency of galactocerebroside B-galactosidases.
--presents: perivascular aggregates of mononuclear and multinucleated (globoid) cells in white matter
6mo old girl w/ metachromatic leukodystrophy (MLD) fails to thrive and dies. Brain histo: accumulation of metachromatic material in white matter and prominent astrogliosis. Lab: accumulation of cerebroside.
Deficiency of what enzyme?
Arylsulfatase -- MLD = most common leukodystrophy, accumulation of galactosyl sulfatide (a cerebroside) b/c of deficiency of arylsulfatase
5 y/o girl has progressive motor decline --> vegetative state. MRI: confluent, bilaterally symmetric demyelination. brain autopsy: gliosis, perivascular infiltrates of lymphocytes. Lab: high levesl of saturated very long-chain fatty acids in tissues and body fluids.
Patient's leukodystrophy most likely cause by dysfunction of what cell component?
Peroxisome -- Adrenoleukodystrophy
-- Associated w/ high very long-chain fatty acid
-- ALD occurs in age 3-10
-- Defect in peroxisomal membrane
8 y/o girl's parents have concerns about academic performance and behavior changes. Exam: motor and sensory impairments. Normal vitals and LP. Dies. Autopsy: prominent intranuclear inclusions in neurons and oligodendroglia, marked gliosis in gray and white matter, demyelination. PCR: presence of defective form of measles virus.
What did she have?
Subacute sclerosing panencephalitis -- chronic, letha, viral infection of brain caused by reactivation of latent Measles virus
60 y/o man comes to ED in a coma. Exam: emaciated, distended abdomen, jaundice, ascites, slightly enlarged liver and spleen. Lab: high blood ammonia. Liver biopsy: cirrhosis.
Brain histo would likely show changes in nuclei of what cells?
Astrocytes -- Hepatic encephalopathy causes enlarged nuclei and marginated chromatin of astrocytes, especially in thalamus
2 y/o boy continually loses balance, has more slurred speech. Exam: truncal ataxia, wide-based gait, appears lethargic, bobbing of head while sitting, normal muscle tone.
Patient may have midline tumor in what part of the brain?
What is histology of cells?
Cerebellum -- Medulloblastoma
Medulloblastoma characterized by cells w/: hyperchromatic, round-to-oval nuclei, scant cytoplasm, often crowd together w/ no structural pattern
24 y/o woman has 4month Hx of headaches, unsteadiness walking, tendency to fall to the right, loss of coordinated movement in right hand and leg. Father and aunt died of renal cell carcinoma, paternal grandfather had Hx of spinal cord tumors, sister has retinal angiomas. Exam: wide-based gait, unable to stand on right leg, intentionl tremor, dysdiadokokinesia of right arm. MRI: parasagittal tumor of cerebellum. Biopsy: hemangioblastoma.
What does she have?
Von Hippel-Lindau syndrome -- hereditary disorder, cerebellar hemangioblastomas, associated w/ retinal angioms and other tumors.
--Mutation in VHL tumor suppressor gene
65 y/o woman w/ Hx of breast cancer and recent melenoma has tonic-clonic seizure. Normal chemistry, no drug or alcohol use. Brain MRI: bilat cerebral edema, cystic frontal lobe lesion. Biopsy: hemorrhagic nodule of neoplastic cells.
Immunohistochemical stains for what antigen is most useful?
HMB-45 -- marker for melanoma
--Metastatic tumors are most common intracranial neoplasms
--Melanoma, breast and lung tumors have high risk of intracranial metastasis
Glioblastoma Multiforme is a tumor of what cell?
What is the histologic hallmark of meningiomas?
Whorled pattern of "meningothelial" cells
26 y/o woman w/ Hx of bitemporal hemianopsia and Diabetes Insipidus. She has large cystic tumor mass replacing midline structures in the region of hypothalamus.
What is it? It is derived from epithelial cells of what embryonic structure?
Craniopharyngioma -- epithelium of Rathke pouch (nasopharynx)
48 y/o man w/ AIDS has fever 38.7, persisten cough, diarrhea, CD4
Lymphoma -- often arise in immunosuppressed and patients w/ AIDS
14 y/o boy has 4month Hx of fatigue, abdn pain, yellowing of eyes and skin. Exam: bilateral tremor, lack of coordination, mild jaundice, Kayser-Fleischer rings.
Degenerative changes are present in what part of CNS in this patient?
--Wilson disease = excess copper deposit in liver and brain --> degenerative changes in corpus striatum --> lack of coordination and tremor
50 y/o man has an epileptic seizure. Normal vitals. Head Xray: mass in left cerebral hemisphere w/ scattered foci of calcification. Brain biopsy histo: small rounded nuclei, increased cell density, cellular pleomorphism, occasional calcospherites.
What does he have?
20 y/o man with increasing difficulty hearing over past several years. Exam: bilateral sensorineural hearing deficits. MRI: bilateral cerebellopontine angle tumors, consistent w/ schwannomas. Strong family Hxfor benign tumors.
What does he have?
Neurofibromatosis type 2 -- pathognomonic bilateral tumors of CN8
What are the pathological findings of Diabetic Neuropathy
29 y/o woman has nervousness and weakness for 6 months, increasing intolerance of heat, frequently sweats, 20lb weight loss over 2 months. Exam: symmetrically enlarged thyroid and exopthalmos.
What causes here bilateral exophthalmos?
Swelling of extraocular muscles -- swollen by mucinous edema, accumulation of fibroblast, and infiltration by lymphocytes
56 y/o obese, diabetic woman has declining visual acuity. Fundoscopy: peripheral retinal capillary microaneurysms, deep and superficial retinal hemorrhages, "waxy" hard exudates, areas of capillary closure, and vitreoretinal neovascularization. Urinalysis 3+ proteinuria, 3+ glucosuria.
What is most important pathogenic factor underlying the patient's retinopathy?
Retinal ischemia --accounts for cotton wool spots, capillary closure, microaneurysms, and retinal neovascularization
65 y/o man has gradual loss of peripheral vision over 2 years. Exam: increased intraocular pressure, "optic cupping".
What explains loss of visual field sensitivity?
Retinal degeneration -- pressure-induced degenerative changes (complication of Glaucoma)
--Glaucoma --> increased intraocular pressure --> excavation of optic nerve head, progressive loss of visual field sensitivity.
28 y/o man has 6mo Hx of increasing night blindness. 2 maternal uncles have same condition. Exam: marked constriction of peripheral visual field.
Fundoscopic exam would likely reveal what?
--Retinitis pigmentosa = bilateral, progressive, degenerative retinopathies
----characteristic night blindness and constriction of peripheral visual fields b/c loss of retinal photoreceptors and pigment accumulation within retina.
3 y/o child has red, painful left eye. Exam: swelling of eyelid, purulent exudate.
What does he have?
54 y/o woman with RA has 2yr Hx of dry eyes and mouth. Exam: enlarged lacrimal glands bilaterally.
Histo of lacrimal glands would likely show infiltration by what inflammatory cells?
Lymphocytes -- Sjogren syndrome ==lymphocytic infiltration
55 y/o obese woman w/ Hx of HTN, HCL has nodular lesion on nasal aspect of both eyelids. Lesions are yellow, nonpainful. Biopsy would show accumulation of what cells?
Macrophages -- Xanthelasmas = lipid-containing macrophages usually located on eyelids, frequently seen in pts w/ familial hypercholesterolemia.
67 y/o man has lesion on left eye. Exam: triangular fold of vascularized conjunctiva growing horizontally into cornea in shape of insect wing.
What is it?
Pterigium -- fold of vascularized conjunctiva growing horizontally ONTO the cornea
--Shaped of an insect wing gives it the name
--Frequently recurs after excision
65 y/o man has decreased visual acuity in one eye for 5 years. Exam: white discoloration in one pupil.
What is pathogenesis?
Degeneration of the lens -- Cataracts = opacifications in crystalline lens.
58 y/o obese woman has declining visual acuity for 6 months. Exam: 82BPM, RR22, 195/110, "cotton-wool spots", retinal hemorrhage, "macular star", edema of optic nerve, arteriovenious nicking of retinal arterioles.
What is pathogenesis of her symptoms?
Hypertensive retinopathy -- characteristic arteriolar narrowing, flame-shaped hemorrhages, exudates, macular star, cotton-wool spots
What funduscopic exam findign would be seen in a patient w/ retinal vein occlusion?
--Vein occlusion more common than artery occlusion
--increased intraocular pressure
13 y/o girl is diagnosed w/ DM. 6 yrs later, she has blurred vision. Exam: "snow flake" cataracts.
Accumulation of what biologic compound is pathogenesis of cataracts for this patient?
Sorbitol in the lens -- Type 1 diabetes patients develop bilateral "snowflake" cataracts.
--Blanket of white needle-shaped opacities in lens
--Accumulation of sorbitol, the alcohol derived from glucose
50 y/o man has loss of vision in left eye after MVA. Fundoscpy: separation of sensory retina from retinal pigmentary epithelium.
What likely caused retinal detachment?
Intraocular hemorrhage -- traumatic hemorrhages separates sensory retinal from retinal pigment epithelium
15 y/o boy on eye exam has 20/80 vision in both eyes.
What explains the pathogenesis of myopia?
Increased anteroposterior diameter of eye -- Myopia (near-sightedness) occurs when focus point is in front of retina