Diseases Test 5 Flashcards Preview

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Flashcards in Diseases Test 5 Deck (68):


PPy: Prefrontal (NE) and mesocortical (DA) pathways are involved in maintaining and focusing attention.

Sx: Development disorder that starts before age 7 characterized by the co-existence of attentional problems and hyperactivity occurring infrequently alone.

Children should have 6 or more symptoms with some present before 7yrs. Symptoms must be present for at least six months; and in two or more settings.

Dx: Parent and teacher questionnaire, psych testing for child AND family, and complete developmental, mental, nutritional, physical, and psych exam.

Epidemiology: 3-5% of children.

Rx: Methylphenidate, Amphetamine, Atomoxetine (second line)


Alzheimer's Disease

Degenerative disease that begins at Nucleus basalis of Meynert which decreases Ach release to hippocampus, frontal cortex, neocortex, and amygdala.

Symptoms: DEMENTIA progressing to disorientation, memory loss, and aphasia.

Increases greatly with age (up to 50% over 85)

Microscompic pathology:
Neurofibrillary tangles (composed of tau, MAP2, and ubiquitin) w/ in cell bodies. Amyloid-beta polypeptides are overproduced outside the cell. These tangles interfere with cell's ability to transport essential chemicals --> neuron death.

Tau accumulation is secondary to amyloid-beta accumulation

Congo Red stain is best for plaque visualization.

Gross brain atrophy --> hydrocephalus ex vacuo

Time course: Memory problems coincide with neuronal loss in the NBM. Within 3 years spread to other Ach neurons. 3-6 years later diffuse damage to neocortex. Most die within the next 3 years. (overall 3-20 year range)

*Most common cause of death is infx --> pneumonia

Rx: Cholinesterase inhibitors (Donepezil, Galantamine, Rivastigmine, and Tacrine) and then Memantadine



Sx: Headache, dizziness/vertigo, nausea, light/sound, fatigue, insomnia. Loss of concentration, memory, reading, emotional changes.

Goals: prevent 2nd impact sydrome, post concussive syndrome, and CTE.

Management: RAM - Restrictions(prevent new injury through restricting risks), Accommodations (accommodate cognitive symptoms - school off, half days, limit testing, separate from class for test etc.), and symptom/medical Management (anti migraine, anti-emetics, anti muscle spasm, sleep aid, anti anxiety).

Return to sport requires return to baseline without ongoing new accommodations

Standardized sideline testing for safety

ImPACT: baseline and follow up test. Tests attention span, reaction time, memory, problem solving

Girls > Boys


CTE (Chronic Traumatic Encephalopathy)

Sx: aggression, depression, and cognitive deficits. Some show parkinsonism or ALS/

Tauopathy. Tau deposition in peri-vascular areas: amygdala, thalmus, basal ganglia, and sulcal depths.

Genetic component\

2 main patient groups:
Young- mood and behavior symptoms
Older- Dementia and cognitive decline

Can start as young as teens.


Post Concussive Syndrome

Loose definition. Persistent symptoms referable to concussion, lasting beyond one month. Non progressive.

Sx can wax and wane; and may resolve

Most concussions resolve in 7-10 days.


Cerebral Palsy

Congenital static enephalopathy. Cerebral palsy is due to abnormal brain development, often before birth.

Caused by a number of problems - infx, hypoxia, idiopathic, etc.

Symptoms include exaggerated reflexes, floppy or rigid limbs, and involuntary motions. These appear by early childhood.

Long-term treatment includes physical and other therapies, drugs, and sometimes surgery.



A condition that improves for most.

Key indicator is too much or too little social interaction.

Physically fine without other cause. Can be secondary to tuberosclerosis or cerebral palsy.

Genetic and other testing for cause. Find cause 15%.



You don't ever want to miss this!

Progressive white matter disease. Motor deficits and other deficits around 5.

Some can be treated!


Muscular dystrophy

You don't ever want to miss this!

Many are sex-linked.

Kids have gougher sign --> can't get up on own.


NES (Non Epileptic Siezure)

Syncope, panic/hyper ventilation, GERD/Sandifer's (vomit reflex +/- vomit), tic (involuntary desire to do something) disorder.


Impulse control disorders

ADHD, OCD, Tourette's.


Major Depressive Disorder

AKA Unipolar Depression

Sx: Intense sadness, worry, agitation, self-deprecation, emotional withdrawal, sleep and eating disturbances, loss of drive, loss of enthusiasm and libido, and mental disturbances.

Epidemiology: 1 in 10 patients in primary care. Suicide attempts in 15%. Second highest cause of global burden of disease.

Can be one time (depressed almost every day for 2 weeks) or recurrent (separated by periods of euthymia)


Bipolar mood disorder

Episodes of depression and mania with possible periods of euthymia.

Depression Sx: Intense sadness, worry, agitation, self-deprecation, emotional withdrawal, sleep and eating disturbances, loss of drive, loss of enthusiasm and libido, and mental disturbances.

Mania Sx: Amplified energy, euphoria, rapid speech, racing thoughts, decreased need for sleep, hypersexuality, grandosity, and excessive interest in goal directed activities.

Suicide attempts in 25%.


Huntington's disease

Autosomal-dominant trinucleotide repeat disorder. CAG (anticipation) (more repeats the sooner the onset) 40+ repeats is 100% (full penetrance) of HD. CAG repeats in Glutamine repeats on chromosome 16 of the HTT gene (huntingtin gene) which causes neuronal death via NMDA-R binding and glutamate toxicity in striatal nuclei (caudate nucleus). These are the main inhibitors of movement.

35 or less repeats = normal
36-41 = incomplete penetrance
40-60 = adult onset and full penetrance
60+ = juvenile onset in some cases and full penetrance

Genetic anticipation- a parent with 36-40 repeats may pass on a copy with increased number of repeats resulting in a fully penetrant child.

Variants in NMDA-R may influence disease severity.

Ubiquitin staining of nuclear inclusions.
Symptoms: chorea, aggression, depression, and dementia. (mental symptoms usually first, but often missed. chorea is principle.)

Rx: antipsychotics to decrease dopamine to decrease movement and psych problems. Other symptomatic/chorea (i.e. lithium/benzos) care. Extensive supportive care network of PT/OT, psych, speech path, genetic counseling, etc.

High suicide rates.


Axonal Damage

CNS: No macrophages to clear debris. Inhibitory molecules (Nogo, MAG, OMgp), and astrocytes performing gliosis prevents regeneration.

PNS: Wallerian degeneration. Schwann cells detach, start proliferating, and recruit macrophages to clear debris. Schwann cells secrete stimulating factors leading to regrowth toward target organ.

*Chromatolysis - sign of degeneration that includes pallor and eccentricity of nucleus (pushed to the side). During repair the nissl bodies and nucleus becomes centered again.


REM Behavior Disorder

Loss of REM atonia = muscle tone during REM sleep

More Common in older patients (>60 yrs.)

Ranges from small movements or talking to acting out violent dreams

80% of patients later develop alpha-synucleinopathies (i.e. Parkinson, Lewy body dementia) --> First symptom?


Lack of sleep

Short Term: Cognitive impairment (rxn time and judgement)

Long term- Cognitive decline, problems with homeostasis, Infx, Hallucinations, siezures, death

-REM sleep is not necessary


Meningial carcinomatosis

Tumor "studding" of the brain. Multiple small well circumscribed tumors. Caused by metastasis.


WHO Grade 1 Tumor

Generally LOW PROLIFERATIVE POTENTIAL possible cure following resection alone.

I.e. meningiomas often good outcome


WHO Grade 2 Tumor

Generally INFILTRATIVE but low proliferative activity, if removed often will recur.

Generally greater than 5 year survival


WHO Grade 3 Tumor

Generally histological evidence of malignancy --> NUCLEAR ATYPIA AND MUCH MORE MITOTIC ACTIVITY

Generally 2-3 years


WHO Grade 4 Tumor

CYTOLOGICALLY MALIGNANT, MITOTICALLY ACTIVE, NECROSIS PRONE. Rapid pre and post operative disease progression, usually fatal outcome.

Depends on treatment. Improving however.


Gliomas (Astrocytoma)

Arise from astrocyte, oligodendrocytes, or ependymal cells.

High grade gliomas are often fatal (location and infiltrative borders prevent complete excision)

Glioblastoma (highest-grade astrocytoma) is most malignant.

Sx: Headaches, Siezures, memory loss, changes in behavior.

Grade I: Pilocytic astrocytoma
Grade II: Diffuse astrocytoma
Grade III: Anaplastic astroctyoma
Grade IV: Glioblastoma


Piliocytic Astrocytoma

Grade I astrocytoma.

Clinical features: mostly in children, frequently in post. fossa.

Excellent prognosis.

Morphologic features. Often cystic. Bipolar cells with long hair-like processes. ROSENTHAL FIBERS. Biphasic: loose and dense areas.

Histologically: ROSENTHAL FIBERS. Corkscrew morhpology, eosinophilic and composed of several proteins including GFAP.


Focal, Local Seizure

Siezure that doesn't affect awareness or memory. Affects one hemisphere and patient remains conscious.

Sx: Focal symptoms related to the locus of the siezure.

Rx: Carbamezepine and Levetiracetam


Focal, with contralateral propagation or secondary generalization (complex partial)

Siezure that initiates as focal siezure (sometimes not noticed) and progresses to general siezure. Frontal lobe often affected first, and the siezures then progress to global siezure.

Unconscious when becomes general.

Generally lasts 1-3 minutes.

Rx: Carbamezepine or Levetiracetam


Generalized non-convulsive (absence siezure)

Seizure presents as loss of consciousness which comes back quickly. Often seen as pause in speech.

Rx: Ethosuximide


Convulsive (tonic-clonic, atonic, others)

Seizure presents as a sudden cessation of normal activity. Often tonic-clonic in nature.

These are the siezures that you see on TV.

Rx: Valproic Acid or Levetiracetam


Status Epilepticus

Convulsive seizure that lasts five minutes or more. Very high mortality! Treat ASAP and aggressively. Can cause detrimental affects of breathing and heart rate. Depletes glucose stores and creates electrolyte imbalances.

Rx: IV Lorazopam (Acute) or Phenytoin (prophylaxis)



Chronic primary seizure disorder (seizure isn't secondary to anything)

At least two unprovoked seizures more than 24hrs apart to dx.


Seizure (general characteristics)

Sx: transient signs and symptoms due to excess or synchronous neuronal activity in the brain. Manifests as paroxysmal, stereotyped episodes of altered or diminshed consciousness, involuntary movements, or convulsions.

Pathogenesis: Imbalance between neuronal excitation and inhibition. Increased EC K+, Decreased EC Ca++ or MG++. Result is increased Glutamate and decreased GABA.

Epidemiology: 2.3 million U.S. adults and 467,711 children in U.S. Incidence in U.S. of 150,000/year. 1-2% of ER visits.

Etiology: Idiopathic (most common), Stroke (age>60), Brain tumor (elderly), metabolic disturbances (sugar, sodium, calcium, nitrogen), Infx, focal neurologic lesions, meds/withdrawals, Toxins (EtOH).

Rx Pearls: No rx after 1st unprovoked seizures. Rx if high risk of recurrence (status, brain injury, tumor, abnormal eeg)

Dx: MRI or CT, EEG on all patients, LP (if infx is concern), CBC, BMP, Utox, and pregnancy test (ecclampsia / what drugs to uses)



Sx: strange walk, slurred speech, and uncontrolled laughter. Once symptoms present death is certain occuring in 6-12 months.

Cannibalism the source of spread.

Ppy: plaques and spongiform encephalopathy due to neuronal loss. PrPsc prion formed from improper protein folding resulting in Beta-sheets. Forms amyloid.

Amyloids are fibrous protein deposits often associated with disease (AD). Bind Congo Red. Amyloids initiate unfolded protein response and increase vacuolation.


Variant Creutzfeldt-Jakob Disease (vCJD)

Aquired from the consumption of meat contaminated with Bovine Spongiform Encephalopathy.


Iatrogenic (iCJD)

Hormones from cadaver pituitaries, contamination of grafts or instruments, and corneal transplants.


Familial (fCJD)

Large number of mutations in PRNP gene w/ different disease phenotypes


Sporadic (sCJD)

Etiology is unknown, no known risk factors.



300 cases in the US per year most are sporadic. No vert. transmission, rapid progression, fatal.

Symptoms include dementia, behavioral changes, lack of coordination, and visual disturbances.

Genetic mutation in PRNP gene on chromosome 20. Point mutation.

No single test to dx CJD. Rule out meningitis and tumor.

EEG: periodic, sharp wave complexes.

Double hockey stick putamen/caudate on MRI. Spongiform encephalopathy.


Chronic Wasting Disease (CWD)

Prion disease that affects deer/elk. Horizontal transmission between cervids.

Humans aren't high risk of getting disease.


Diffuse astrocytoma

Grade II astrocytoma: Slowly progressive. Eventually most become anaplastic.

Rx: Surgery and radiation (chemo not effective due to slow growing cells)

Two variants: fibrillary astrocytoma and gemistocytic astrocytoma.


Anaplastic astrocytoma

Grade III astrocytoma. Shows more cellular regions w/ more pleomorphism, more mitoses.

Have GFAP (glial fibrillary acidic protein) - principle intermediate filament in mature astrocytes. Gliosis is characterized by rapid synthesis of GFAP.



Grade IV astrocytoma. Variation in appearance in different areas. Necrosis and vascular perforation.

Most common primary brain tumor. More common in adults. Mean survival 10 months. Less than 10% alive at 2 years.

"Butterfly glioma" =glioblastoma that crosses the midline.

Key feature is psuedopalisading necrosis.

Temozolamide can improve avg. expectancy by 2.5 months. Very costly ($10,000 a month).

MGMT promotor region methylation gives better outlook --> TMZ is more effective.

Sx: Slowly progressive neurologic deficit, usually motor weakness. Headache. Increased ICP leading to nausea, vomiting, and cognitive impairment. Siezures.

Dx: MRI w/ and w/o contrast. T1 w/ FLAIR



Less common (10% of gliomas)

Clinical features: presents with siezures, mean survival 5-10 years.

Deletion of 1p and 19q improves survival

Morphologic features: sharply circumscribed hemispheric masses. Round nuclei w/ cystoplasmic halos "fried egg". Delicate capillary network. Most are calcified.



Clincal features: usually children near fourth ventricle. Adult variant in spinal cord. Slow growing, but poor prognosis (mean: 4yrs). CSF dissemination common.

Morphologic features:
-Solid or papillary mass
-Round nuclei
-Dense fibrillary background.
-Canals, pseudorosettes, and ROSETTES



WHO grade IV

Clinical features: Usually in children, cerebellum
Very radiosensitive!
i(17q) = poor prognosis

Morphologic features: well-circumscribed

Histologic features:
-Small, dark, elongated, anaplastic cells

Symptoms: headache, morning vomitting which progresses, may have problems with back pain and motion.



Second most common primary brain tumor

Clincal features: benign tumor of arachnoid cells. Slow growing and cured by resection.

Morphologic features: attached to dura, compresses brain. Syncytial pattern. PSAMMOMA BODIES (calcium deposits)

It's a Sin (synctial pattern) for Men (meningiomas) to eat too many Sa'moas (psammoma bodies).



DA dysfunction. Too much dysfunction resulting in over stimulation of mesolimbic system and mesocortical system specifically resulting in both positive and negative symptoms.

Sx: Positive (gained) negative (lost) and cognitive. Impaired behavior, inabiltiy to think coherently, inability to comprehend reality, delusions, hallucinations, etc.


Global Cerebral Ischemia

Most commonly caused by hypotension.

Mild: transient confusion
Severe: persistan vegetative state or brain death.

Results in: "Watershed" infarcts (at junctions at cerebral arteries distribution) , laminar necrosis (necrosis at gray/white junction), or diffuse necrosis. Thinned cortex w/ liquefactive necrosis. Red neurons (red is dead)

Long-term respirator common cause.


Ischemic Infarct

Focal cerebral ischemia

Pale. Usually due to thrombi, often arise from the atherosclerotic plaques.

Usually at carotid bifurcation, MCA orgin, or ends of basilar artery.

Gross appearance:
0-2 days: white, wet, and swollen
2-10 days: gelatinous, outlines of infarct visible
10-21 days: liquefaction and

Microscopic: Red neurons, edema, swollen astrocytes --> lots of neutrophils --> less neutrophils, more macrophages --> (Later changes) Gliosis begins --> even more macrophages --> dense gliosis and new capillaries


Hemorrhagic Infarcts

Red. Usually caused by emboli and reperfusion. (Embolus sticks in vessel --> body breaks clot, but weakens vessel--> smaller embolus moves on and sticks again --> pressure buildup cases dissection

Embolus usually from the heart, but can be marrow/fat/tumor. Usually in MCA or at branch points.

Gross Appearance: Punctate hemorrhages or big hematomas. Eventual resolution and cavitation.

Microscopic changes (same as ischemic, but with extravasted blood): Red neurons, edema, swollen astrocytes --> lots of neutrophils --> less neutrophils, more macrophages --> (Later changes) Gliosis begins --> even more macrophages --> dense gliosis and new capillaries .


Lacunar Infarcts

Ppy: HTN affects deep vessels (supply basal ganglia, deep white matter, brainstem) Develop arteriolar aclerosis; can become occluded resulting in lacunar (lake-like) infarcts that are tiny and result in tissue loss w/ macrophages and gliosis.

Clinically can be silent or cause severe impairment.


Slit infarcts

Ppy: HTN causes rupture of little penetrating vessels resulting in little hemorrhages. Overtime hemorrhages resorb leaving a brownish, slit-like cavity.

Microscopically see hemosiderin-laden macrophages and gliosis


Acute hypertensive Encephalopathy

Arises in malignant hypertension (like 300 systolic)

Casuses diffuse dysfunction: confusion, convulsions, coma, increased ICP (and it's side effects; herniation etc.)


Parenchymal hemorrhage

Peak age 60; high mortality.

Most common cause: hypertension. Hypertension causes accelerated atherosclerosis, hyalin arterioloscleroisis, even frank necrosis. Vessel walls are weaker.

Usually due to rupture of a small intraparenchymal vessel. Can be "ganglionic" or "lobar"

Unique tiny aneurysms called (Charcot-Bouchard microaneurysms)


Charcot-Bouchard microaneurysms

Tiny aneurysms in the parenchyma caused by hypertension. Preferentially affect basal ganglia, cerebellar peduncles, and superficial cortex.


Berry Aneurysm

Mosly sporadic. Can be secondary to Marfans or Downs Syndrome.

Risk factors: Smoking, HTN

Grow slowly; when greater than 1cm, 50% risk of bleeding per year. High mortality when ruptured.

Rx: Clipping, or Coils

Most common at Circle of Willis bifurcations. (most common ant. communicating; second post. communicating)


Pick's disease

AKA: Frontal Temporal Lobe Degeneration/Degeneration (FTLD)

Ppy: degeneration of frontal/temporal lobes first to changes in behavior and language and eventually to dementia. Also hydrocephalus ex-vacuo due to frontal and temporal atrophy.

Pick bodies contain tau protein.

Clinical Hallmarks: Disinhibition, Apathy, pererverative/comulsive behavior, hyperorality, loss of exectuive function


Vascular Dementia

Memory loss over time due to less blood flow to brain.

Symptoms: confusion, trouble paying attention, memory loss, depression, problems walking, problems with urination, difficulty planning

Risk factors: smoking, overweight, HTN, hyperlipidemia, age

Etiology: Multiple infarcts or decreased vascularization cause focal neurologial symptoms and eventual atrophy.

Epidemiology: 20% of dementia patients have this type. 75% are mixed vascular/non vascular.

Dx: Dementia criteria: Decline in cognitive function in ≥ 2
cognitive domains; must include executive/attention,
memory, language, and visuospatial function

Vascular: Imaging or consistent presentation

Rx: Antiplatelets, anti hypertensives, statins, dm management.


Progressive supranuclear palsy (PSP)

Pathology: Accumulation of tau proteins in glial cells and NFTs. Neuronal loss in globus pallidus, subthalamic nucleus, and dentate nucleus.

Causes: antipsychotic meds, CO poisioning, encephalitis, hypoxic-ischemic injury.

Clinical features: truncal rigidity, frequent falls, loss of voluntary eye movements. (presents similar to Parkinson's --> Dx of exclusion)

Sx: Behavioral: loss of behavior control, depression, apathy,

Cognitive: impairment of executive function. Memory problems and language disturbances.

Wheelchair bound in 5 years, death in 7 years.


Lewy body dementia

Dementia characterized by lewy body inclusions without NFTs and amyloid plaques.

Main component alpha-synuclein.

Sx: Parkinsonian gait, fluctuating cognition (especially at night), dementia, REM sleep disorder, hallucinations, rigidity and tremor.


Leigh's Disease

Pyruvate dehydrogenase deficiency due to mitochondrial DNA mutations (inherited maternally).

Onset 3 months to 2 years.

Sx: vomitting, diarrhea, poor suckling, loss of appetite, hypotonia, ataxia, irritability, continous crying, siezures, lactic acidosis

Prognosis: Complete deficiency: 1-2 years
Partial deficiency: 6-7 years

Rx: Ketogenic diet, Thiamine, Bicarb


Tuberous Sclerosis

Autosomal dominant genetic disease that causes benign tumors to grow in many parts of the body especially in brain, kidneys, heart, lungs, and skin. Mutations in TSCS1 or TSCS2 gene (tumor suppressor gene)

Sx: skin abnormalities, seizures, developmental delay, trouble with communication, hyperactivity, rage, repetive behaviors, social, and emotional withdrawal.

Limited life expectancy = 75% before age 20

Rx: Support group


Posterior Cortical Atrophy

Unexplained degeneration of posterior cortex.

Sx: Prosopagnosia
Spatial unawareness
Visual disorientation
Alexia with Agraphia
Blindness (progressive)
Memory loss (progressive)


Opioid abuse

Abuse of opioids create a state of indifference towards one's environment

Physical and Psychological dependence.


Anxiolytic-Sedative (Benzodiazepine) abuse

Abuse leads to state of "disinhibition euphoria" similar to alcohol's effects.

Used by white collar people who can't smell drunk etc.

Physical and Psychological dependence.


Stimulant abuse

Abuse potential increases wakefulness, attentiveness, and athletic performance.

Psychological dependence; +/- physical dependence


Drug misuse

Drugs used within context of medical treatment.

Ill advised prescriptions, improper use by patients within context of medical treatment


Drug abuse

Use of drugs for psychic effects beyond those for which it was prescribed.

Non-medical use.

Conveys a disapproval by society.

Type I - patient has history of abuse

Type II - patient taking drug for legitimate reasons and becomes addicted as a consequence. Not common.


Amyotrophic Lateral Sclerosis

Degeneration of UMN and LMN. Rapidly progressive weakness, spasticity, and dysphagia.

Sensory and cognitive function are unaffected.

Death within 2-3 years due to respiratory compromise.

Onset usually around 50.

Early: asymmetric hand weakness, arm/leg spasticity, twitching, slurred speech. Then atrophy, fasciculations, creeping paralysis. Eventually respiratory muscles involved (infx)

Other patterns:
1.) Progressive muscular atrophy (mostly LMNs)
2.) Primary lateral sclerosis (mostly UMNs)
3.) Progressive bulbar palsy (lower brainstem motor nuclei first)
4.) Some patients also have FTLD (Pick's)

Pathogenesis: neuronal degneration often with toxic protein accumulation.

Morphology: Thin anterior roots. Degeneration of cotricospinal tracts, decrease in anterior horn neurons, and skeletal muscle atrophy.