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Neuro Muscular Psych Block 2 > Demyelinating, Degenerative, Toxic and Eye Diseases > Flashcards

Demyelinating, Degenerative, Toxic and Eye Diseases Flashcards

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1
Q

Multiple Sclerosis

Genetics (3) Etiology (2) Symptoms (5) Morphology, CSF Findings (3)

A

DR2
IL2 receptors
IL17 receptors

CD4+ Th1 and Th17 cells that attack myelin

Relapsing and Remitting episodes of neurologic issues
Unilateral visual impairment**
Optic neuritis
Ataxia
Nystagmus

Multiple PAS (+) Plaques in brain over space and time**

IgG with oligoclonal bands**
Elevated Protein
Pleocytosis

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2
Q

Neuromyelitis Optica

Etiology (2) CSF Findings (2), Symptoms (2) Treatment

A

Antibodies to aquaporins (NMO)
MOG Antibodies

Turbid
Neutrophilia

Bilateral optic neuritis
Spinal cord demyelination

Plasmapheresis

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3
Q

Acute Disseminated Encephalomyelitis

Pathogenesis (2) Symptoms (3) Prognosis, Morphology (2)

A

Monophasic demyelination
Following viral infection or immunization

Headache
Lethargy
Coma
*Follows 1-2 weeks after exposure,

20% die, most fully recover

Myelin loss with Axonal sparing
Multiple brain lesions appearing at same time

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4
Q

Acute Necrotizing Hemorrhagic Encephalomyelitis

Population, Pathogenesis, Prognosis

A

Young adults and kids

Recent upper respiratory infection

Fatal in most cases, nobody fully recovers

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5
Q

Central Pontine Myelinolysis

Etiology, Pathology, Symptoms (4)

A

Too rapid correction of severe hyponatremia

Symmetrical myelin loss without inflammation

Dysphagia
Dysarthria
Diplopia
Loss of Consciousness

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6
Q

Alzheimer’s Disease

Complications (4) Morphology, Histology (6) Prognostic Factor

A

Progressive disorientation, memory loss, aphasia
Hydrocephalus ex vacuo

Global cortical atrophy of frontal, temporal and parietal lobes

Neuritic Plaques with amyloid core
Diffuse Plaques without amyloid (Down's syndrome)
Neurofibrillary tangles (silver stain)
Tau filaments
Granulovacuolar degeneration
Hirano bodies

Number of tangles

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7
Q

Cerebral Amyloid Angiopathy

Association, Morphology, Diagnosis

A

Invariably accompanies Alzheimer’s

Thick vessels in parenchyma

Congo red stain for A-Beta amyloid

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8
Q

Pick Disease

Classification, Clinical Features (3) Morphology (3)

A

Frontotemporal dementia with Tau pathology

Early onset
Behavioral and personality changes
Language disturbances

Asymmetric atrophy of frontal and temporal lobes
Knife edge thin gyri
Pick bodies (silver stain)

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9
Q

Progressive Supranuclear Palsy

Symptom, Population, Prognosis, Pathology (3)

A

Truncal rigidity

Men

Fatal

Widespread neuronal loss, even in cerebellum
Globose fibrillary tangles
4R Tau filaments

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10
Q

Parkinson’s Disease

Symptoms (4) Morphology (3) Genetics (2)

A

Decreased facial expression
Pill rolling tremor
Shuffling gait (festinating)
Slow movement

Pale, depigmented substantia nigra
alpha-synuclein deposits
Lewy body deposition in neurons (eosinophilic with dense core and halo)

Autosomal dominant Chr 4q21 defect
Parkin gene (juvenile AR)
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11
Q

Lewy Body Dementia Symptoms (3)

A

Dementia
Parkinson’s
Hallucinations

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12
Q

Multiple System Atrophy

Morphology, Presentation (3)

A

Oligodendrocyte alpha-synuclein inclusions

Parkinson’s
Ataxia
Autonomic Dysfunction (orthostatic hypotension)

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13
Q

Huntington’s Disease

Presentation (2) Genetics (4) Pathogenesis, Morphology (3)

A

Chorea
Dementia

Autosomal dominant
Polyglutamine trinucleotide repeats
CAG repeats
Shows generational anticipation

Toxic GOF of Huntingtin protein

Head of Caudate nucleus atrophy (basal ganglia)
Corpus callosum atrophy
Globus pallidus atrophy

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14
Q

Friedreich Ataxia

Genetics (4) and Symptoms (5)

A

Autosomal recessive
GAA trinucleotide repeat
Chr 9q13
Frataxin protein defect

Ataxia by age 10
Cardiac Arrhythmias
Congestive Heart Failure
Diabetes
Recurrent Pulmonary Infections
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15
Q

Ataxia-Telangiectasia

Genetics (2) Pathogenesis, Clinical Features (3)

A

ATM gene
Chr 11q22-23

Kinase defect causes susceptibility to genetic damage

CNS and Conjunctival Telangiectasias
Immunodeficiency causing recurrent sinopulmonary infections
Death in 20’s

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16
Q

Amyotrophic Lateral Sclerosis

Genetics (1), Pathogenesis (2) Morphology (4) Symptoms (7)

A

SOD1 gain of function

Loss of upper and lower motor neurons

Thin anterior roots of spinal cord
Atrophic precentral gyrus
Decreased anterior horn neurons
PAS (+) Bunina bodies

Asymmetric hand weakness (dropping things)
Cramping
Fasciculations
Respiratory infections
Progressive muscle atrophy
Progressive bulbar palsy: deglutination and phonation issues

17
Q

Tay Sachs Disease

Genetics (1) Pathogenesis (2) Presentation

A

Chr 15 defect

Hexosaminidase A causes a buildup of GM2 ganliosides

Cherry red spots in maculae

18
Q

MELAS

Mutation, Presentation (3)

A

Most common mitochondrial neurological disease

tRNA mutation

Stroke-like episodes that don’t correspond to a certain region of brain
Muscle weakness
Lactic acidosis

19
Q

MERF

Mutation, Presentation (4) Morphology

A

tRNA mutation

Myoclonus
Seizures
Myopathy
Ataxia

Ragged red fibers

20
Q

Kearn-Sayre Syndrome

Presentation (3) Morphology (2)

A

Ataxia
Pigmentary Retinopathy
Cardiac conduction defects

Spongiform gray/white matter changes
Neuron loss in cerebellum

21
Q

Leigh Syndrome

Presentation (3) Pathology (2)

A

Lactic Acidemia
Seizures
Hypotonia

Spongiform brain
Vascular proliferation

22
Q

B12 Deficiency

Main Complication

A

Subacute combined degeneration of the spinal cord

23
Q

Thiamine Deficiency

Complications (2) Morphology

A

Wernicke Encephalopathy: reversible ataxia

Korsakoff Syndrome: Irreversible Confabulation

Mamillary body hemorrhage and necrosis

24
Q

Carbon Monoxide Poisoning

Presentation (2) Pathology

A

Bright red brain
Red skin

Bilateral globus pallidi necrosis

25
Q

Chronic Ethanol Abuse

Presentation (3) and Pathology (2)

A

Truncal ataxia
Nystagmus
Unsteady gait

Anterior vermis atrophy
Bergmann Gliosis

26
Q

Radiation Complications (3)

A

Sarcomas
Gliomas
Meningiomas

27
Q

Periocular Basal Cell Carcinoma

Morphology (4) Histology (1)

A

Most common malignancy of periocular skin

Pearly nodules
Telangiectatic vessels
Central “Rodent” ulcer
Rolled edges

Peripheral palisading of nuclei

28
Q

Uveal Melanoma

Genetics (2) Prognosis, Metastasis

A

Most common intraocular tumor in adults

GNAQ
GNA11 oncogenes

Epithilioid variant has worst prognosis

First to liver (hematogenous dissemination)

29
Q

Why are corneal transplants so successful and what constitutes redoing them?

A

Successful due to lack of stromal blood vessels and lymphatics so there’s no rejection

Infection most common reason to retransplant

30
Q

Cataracts

Main Risk Factor, Age Related, Posterior Subscapular, Morgagnian, Phacolysis

A

Diabetes

Aging causes nuclear sclerosis

Posterior subscapular is where the lens epithelium migrates behind lens equator

Morgagnian is where lens cortex liquefies

Phacolysis causes secondary open angle glaucoma

31
Q

Retinoblastoma

Genes (2) Symptom, Origin, Spread (2), Histology

A

Chr 13
RB gene

Leukocoria (white reflex)

Nucleated retina layers

Spreads via Optic Nerve (poor prognosis)
Pseudohypopyon (cells in anterior chamber)

Flexner Wintersteiner rosettes

32
Q

Glaucoma
Complication, Risk Factors (4)
Open Angle Genetics (2)
Narrow Angle Description

A

Increased intraocular pressure

Age
Diabetes
African American/Hispanic
HTN

Open Angle
Primary: MYOC mutations
Secondary: LOX1 gene

Narrow Angle
Iris adheres to trabecular meshwork and impedes fluid outlfow

Neuro Muscular Psych Block 2 (7 decks)

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