pathology Flashcards
which degenerative disease:
- most common cause of dementia in older adults
- WIDESPREAD cortical ATROPHY
- Sx: slow & progression intellectual degeneration, loss of short-term -> long term memory, motor problems, contractures, paralysis
- RFS: advanced age, down syndrome, FHx, head trauma, increased ApoE-4, decreased ApoE-2 (protective)
● Unknown etiology, theory is low Ach or abnormal amyloid depositions
MOA: neuritic plaques & neurofibrillary tangles in cortex + granulovacuolar degeneration in hippocampus -> ATROPHY of cerebral cortex
o Tangles: composed of abnormal Tau proteins which destroy neurons
o Beta-amyloid: incorrectly spliced protein which crowd out neurons
o There is a loss of Ach (neurotrans for memory & learning) d/t degeneration of cerebral cortex
Alzheimer’s
which degenerative disease MOA is this:
MOA: neuritic plaques & neurofibrillary tangles in cortex + granulovacuolar degeneration in hippocampus -> ATROPHY of cerebral cortex
o neurofibrillary tangles: composed of abnormal Tau proteins which destroy neurons
o Beta-amyloid: incorrectly spliced protein which crowd out neurons
o There is a loss of Ach (neurotrans for memory & learning) d/t degeneration of cerebral cortex
Alzheimer’s
which degenerative disease:
is a progressive and fatal neurodegenerative disorder of the spinal cord, initially presenting with fasciculations, muscle atrophy, and asymmetric limb weakness of distal limbs.
Degeneration of LMN & UMN 🡪 muscle atrophy; middle age 🡪 fatal 1-6 yrs
● Etiology: mutations in superoxide dismutase 1 (SOD-1) & glutamate transporters
● Sx: symmetric atrophy, fasciculations (twitching), hyperreflexia, spasticity
ALS - Amyotrophic Lateral Sclerosis (ALS)
MOA: immune system attacks the peripheral nerves resulting in demyelination due to molecular mimcry
● Acute inflammatory demyelinating disease of peripheral nerves; autoimmune
autoimmune ddx that proceeds a viral infection
● M/c affects young adults after a viral infection, immunization or allergic rxn
● Sx: ascending muscle weakness & paralysis 🡪 recover or fatal
Guillain-Barre Syndrome
which degenerative disease:
- a demyelinating disorder bc of autoimmune destruction of CNS myelin and oligodendrocytes
- RFs: 20-30 yoa, women; relapses & remits after 20 yrs
- Sx: (early) weakness in lower limbs, paresthesia of the face, trunk & limbs, visual disturbances, loss of bladder control (urinary incontinence) 🡪 (late) disability, mental deterioration
SX: Scanning speech, intention tremor, and nystagmus, Marcus Gunn pupil
Multiple Sclerosis
which degenerative disorder:
multifocal periventricular inflammation and demyelination often occurring after a viral infection, leading to rapidly progressive neurological symptoms and altered mental status
M/c presents with motor deficits.
Acute disseminated encephalomyelitis
● Acute demyelinating multifocal disorder occurring 7-14 days post-infection
● MOA: white matter of brain is infiltrated by macrophages
● Etiology: viral (measles, chicken pox, German measles, mumps, influenza, mono), bacterial (Mycoplasma), or scarlet fever
● RFs: recent infection or vaccination (smallpox & rabies)
● Sx: headache, fever, altered consciousness 🡪 focal neurological deficit & coma
● Complications: permanent neuro deficits or fatal (20%) in acute stage
Perivenous Encephalomyelitis
which degenerative disease:
Encompasses several conditions, including Parkinson’s Disease
● Appears > 50 yoa d/t nerve damage in substantia nigra & DA depletion in the corpus striatum
- Lewy bodies present
● Sx: resting “pill-rolling” tremor, masked/expressionless face, bradykinesia (slow movements), muscular rigidity, shuffling gait
Parkinsonism
which degenerative disease:
- Extrapyramidal brkwn of spinocerebellar tract (required for posture) 🡪 ataxia
● Most common type is Friedreich’s ataxia (recessive, European descent)
● Sx: begins < 20 yoa w/ multi-limb ataxia, skeletal malformation, intellectual disability
Spinocerebellar Degeneration
which degenerative disease:
Autosomal dominant; extrapyramidal disease causing atrophy of basal ganglia (voluntary movement) & frontal cortex (mental function)
● Appears after age of 50, w/ signs beginning around 30-40
● Tangles of abnormal Huntington protein accumulate & stick to each other, contributing to loss of inhibitory GABA neurons functionality (jerky movement)
● Sx: involuntary jerking & athetoid (writhing, involuntary) movements 🡪 deterioration w/ hypertonicity (muscle tightness), incontinence, anorexia, weight loss & death
Huntington’s Disease
disease of increased intracranial fluid:
● Very common; brain swelling d/t excessive fluid & flat gyri as brain pushes against cranial bones
● 3 types:
o Vasogenic: m/c, increased permeability or “leaky head” into white matter
▪ RFs: trauma, lead poisoning, infarct, abscess, hematoma
o Cytotoxic: cell injury/ischemia 🡪 edema & increase of intracellular water
▪ Affects mostly the grey matter
o Interstitial: fluid accumulates in white matter d/t hydrocephalus
cerebral edema
- overproduction or decreased absorption of CSF
- communicating = no blockage, but cannot reabsorb CSF by arachnoid villi
- non-communicating = blockage
hydrocephalus
what metabolic and nutritional disease:
Toxic compounds buildup in brain d/t liver failure
● Sx: personality changes, wax/wane, neurologic sx, flapping tremor, coma
Hepatic Encephalopathy
what metabolic and nutritional disease:
- Thiamine deficiency causes demyelination & axonal destruction of long nerves
o I cannot feel this thigh of mine (thiamine) because of my neuropathy
Peripheral Neuropathy
which VitB def:
Often d/t malabsorption (especially from pernicious anemia)
● Sx: megaloblastic anemia & neuropathy (demyelinates CNS axons)
Vitamin B12 Deficiency
● Combination of the following two syndromes:
o Wernicke syndrome: thiamine deficiency 🡪 encephalopathy, ataxia & eye abnormalities
o Korsakoff psychosis: thiamine B1 deficiency linked w/ alcoholism
● Sx: disordered memory for recent events & creation of false memories (confabulation), confusion, ataxia (can’t coordinate muscle activity), paralysis of one or more eye muscles
Wernicke-Korsakoff Syndrome
which congenital/genetic disease:
presence of total or partial 3rd copy on chrom 21
● RFs: increased maternal age; Sx: intellectual disability, macroglossia, close-set slanted eyes, low nose bridge, congenital heart disease, accelerated aging
Down’s Syndrome/Trisomy 21
● Group of white matter disorders 🡪 cerebral deterioration in early life
● Involves absence or loss of myelin in CNS & PNS + glial reaction (phagocytic)
● Very few are autosomal dominant; most autosomal recessive or X-linked
Leukodystrophies
● Phenylalanine (amino acid) — phenylalanine hydroxylase —-> tyrosine
o Tyrosine is needed to make proteins, neurotransmitters & melanin
● Genetic defect of phenylalanine hydroxylase causes phenylalanine to buildup to toxic levels
● Sx: intellectual disability, seizures, hyperactivity
● Can minimize effects by limiting phenylalanine in the diet
Phenylketonuria (PKU)
2 types of storage disease
Tay Sach’s
Hurler’s
● Buildup of COPPER; autosomal recessive w/ decrease serum ceruloplasmin (copper-binding protein)
o KNOW THAT IT’S A BUILDUP OF COPPER!
Wilson’s Disease
● Deficiency of hexosaminidase A; needed to breakdown toxins in brain/SC 🡪 buildup & degrade CNS 🡪 severe mental/motor impairment
● Lack of enzymes leads to fat accumulation in the brain & nerve cells
● RFs: Ashkenazic Jews
Tay-Sach’s = Sack of Fat = fat accumulation
● Deficiency of alpha-L iduronidase (IDUA) 🡪 accumulation of heparan sulfate & dermatan sulfate in the heart, brain, liver & other organs
● Sx: progressive mental deterioration, dwarfism, stubby fingers, cloudy cornea, large head, low nasal bridge
Hurler’s Disease
which type of neoplasm
Primitive neuroectodermal tumor w/ neoplastic cells resembling undifferentiated cells of the medullary tube
● Usually found in vermis of cerebellum, brainstem & SC; m/c in children within 1st year of life
● Neoplastic cells are compact, round, have hyperchromatic nuclei & lie in a pseudorosette pattern (Homer-Wright rosette)
● Tumor grows into the CSF & can metastasize to the spinal cord (unique)
Medulloblastoma
● Benign; originates from arachnoid; m/c in adults & females; look like long fusiform cells in whirls or lobules
● Frequently along sagittal sinus, sphenoid ridge or at optic chiasm
Meningioma