Path - Demyelinating Flashcards

1
Q

What is a leukodystrophy disease?

A

Inherited disturbances in the formation and preservation of myelin

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2
Q

What are three leukodystrophies?

What are the inheritance patterns?

A

Metachromatic leukodystrophy, Krabbe disease (Globoid cell Leukodystrophy, GCLD), and Adrenoleukodystrophy (ALD)
MLD and GCLD are autosomal recessive. ALD is x-linked recessive

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3
Q

What accumulates in metachromatic leukodystrophy?

A

Cerebroside sufates sulfatides (lipids that contain sulfate

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4
Q

Describe Pathology of Metachromatic Leukodystrophy

A

Accumulation of sulphatides (from a defective arylsufatase-A) cause demyelination and gliosis.
Macrophages containing sulfatides

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5
Q

How is Metachromatic Leukodystrophy diagnosed?

A

Macrophages containing sulfatides bind dyes and become metachromasia. Detecting metachromatic in urine is good diagnostic

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6
Q

What is Krabbe disease?

A

A deficiency in Galactocerbroside B-galatosidase enzyme. The alternative pathway for the breakdown of galactocerebroside creates toxic galactosylsphigosine. The accumulation causes oligodendrocyte and schwann cell injury

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7
Q

Krabbe disease is also called what?

A

Globoid Cell Leukodystrophy

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8
Q

What accumulates in Krabbe? Where?

A

Also called Globoid cell leukodystrophy because of the accumulation of Globoid cells which are multinucleated macrophages. Around the blood vessels

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9
Q

Describe ALD.

A

Adrenoleukodystrophy
X-linked disorder of the Adrenal cortex
with demyelination of the nervous system

Increase in levels of very long chain FA in children and body fluids because of enzyme mutation that degrades VLCFA’s

Increases blood pressure

Also occurs in children 4-8 yrs old

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10
Q

Who get leukodystrophies?

A

Children
MLD = infants; lethal within several years
GCLD = ~ 2 years leathal
ALD = 4-8 yrs

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11
Q

Where does Adrenoleukodystrophy degeneration occur?

A

Cortical white matter of the parietal and occipital regions

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12
Q

What laboratory signs will be in ADL?

A

Serum levels of increase VLCFA’s

Atrophied adrenal glands will also have high levels of VLCFA’s

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13
Q

Describe Alexander disease.

A

Also called Rosenthal Fiber Encephalopathy or fibrinoid leukodystrophy.

Occurs in a mutation of the GFAP (Glial Fibrillay Acidic protein) that causes the formation of Rosenthal fibers.

The extracellular accumulation of Rosenthal fibers cause the degeneration of myelin in the brain`

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14
Q

Who gets Alexander disease? Prognosis?

A

Children and infants mostly get Rosenthal fiber encephalopathy that cause phsychomotor retardation, progressive dementia, paralysis and death

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15
Q

What is Multiple Sclerosis

A

An autoimmune demyelinating disease that attacks the CNS but spares the PNS

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16
Q

Who gets Multiple sclerosis?

A

Young adults in 30-40s

People in colder climates

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17
Q

What Pathology is occurring in MS?

A

Chronic MS includes periventricular lymphocytes, macrophages and TH1 and TH17 cells.
Activated Macrophages is the cause for demyelination

18
Q

What infectious agents can trigger Multiple Sclerosis?

A

Measles, Mumps, Rubella, and Herpes Simplex

19
Q

What is the hallmark of Multiple Sclerosis?

A

Demyelinated plaques on MRI (“Dawson fingers”)

Preference for optic nerve

20
Q

What is the demyelinating pattern for MS?

A

Focal areas of injury

21
Q

Clinical findings of Multiple Sclerosis patients.

A

Symptoms of the brainstem, optic nerves or spinal cord affecting both sensory and motor neurons,

Optic neuritis
Extremity weakness, ataxia or numbness

22
Q

What lab tests can be done to help diagnose multiple sclerosis?

A

Spinal Tap will show mild increase in protein and oligoclonal bands of IgG.

EMG potentials of nerves will show decreased conduction

23
Q

What is the cause of death for Multiple Sclerosis?

A

Respiratory paralysis or UTI while in terminal coma

24
Q

How do Multiple Sclerotic lesions differ from that of abscesses and neoplasms?

A
Focal lesions (similar to abscesses and neoplasms)
The enhanced ring will be faint, often incomplete without surrounding vasgenic edema.

There will be NO neovasculature
There will be NO angiogenesis
There will be NO necrosis

25
Q

Describe Devic disease?

A

Also known as neuromyelitis optica
Presents as bilateral optic neuritis and spinal cord involvement (optic neuritis and myelitis). It is a more destructive lesion than in multiple sclerosis.

Also involves grey matter

26
Q

Who gets neuromyelitis optica?

A

Predominantly the Asian Population

27
Q

Describe signs and symptoms of Devic syndrome.

A

Optic neuritis may manifest as visual impairment with decreased visual acuity.
Myelitis dysfunction can lead to muscle weakness, reduced sensation, or loss of bladder and bowel control.

28
Q

Patient comes in presenting with headache and lethargy. He states he recently had gotten a viral immunization 2 weeks ago. His symptoms progress and he slips into a coma and dies. What condition did he most likely have?

A

Acute disseminated encephalomyelitis

29
Q

Patient comes in with acute headache and lethargy but on the H&P she has no focal findings. Her PMx indicates two weeks ago she had a viral infection. She completely recovers. What is something she might have had.

A

Acute dissemniated encephalomyelitis

30
Q

describe Central pontine myelinolysis

A

A loss of myelin causing lesion of the basis pontis.Cause by a rapid correction of hyponatremia. This causes a rapidly developing quadraplegia.

31
Q

Who is at risk of develope central pontine myelinosis?

A

Alcoholics
Malnourished - Severe electrolyte/osmolar imbalances
Orthopic liver trasnplants

32
Q

A man comes into the ER. He quickly falls into a coma and dies. On autopsy it is revealed that his corpus callosum and anterior commissure have become necrotic. What is the probable cause of the syndrome and what is it called?

A

He alcoholic and suffered from a rare demyelination disease called Marchiafava - Bignami

33
Q

What is cause by a Thiamine deficiency?

A

A Beri Beri or a Wernicke Encephalopathy

34
Q

Patient presents with Ataxia, opthalmaplegia and nystagmus. The patient is an alcoholic. What does this disease progress into without proper nutrition supplements?

A

This is a case of Wernicke’s encephalopathy caused by a Thiamine (B1) deficiency. Treatment is to give the patient Thiamine. Progression is to Wernicke - Korsakoff syndrome which will include memory defects

35
Q

Patient comes into the ER having problems with gait, and double vision. He appears unstable during walking and has nystagmus. You have to lave to see another patient but return later. During the initial visit the patients was Alert with a GC of 15. But now the patient cannot remember the exam or you were. What is the diagnosis and the treatment?

A

The patient has developed Wernicke-Korsakoff syndrome.

Give thiamine supplements

36
Q

What are some symptoms of alcohol withdrawal?

A
Delirium tremens (DT's) a state of confusion and visual hallucinations
Agitation
Fever
Convulsions
Black outs
37
Q

What is the pathology related to alcohol withdrawal?

A

Focal hemorrhages/necrosis in the mammillary bodies

Early there will be dilated capillaries that allow the infiltration of macrophages. The macrophages will cause cysts containing hemosiderin.

38
Q

Compare Vit B1 to vit B12

A

Wernicke’s encephalopathy is a reversible condidtion whereas Vit B12 deficiency can potentially have irreversible effects on the nervous system.

39
Q

What are some symptoms of Pernicious anemia?

A

B12 deficiency can cause numbness, tingling and slight ataxia in the lower extremity. May progress to spastic weakness and complete paraplegia.

40
Q

Describe the Pathogenesis of Pernicious anemia

A

Swelling of the myelin produces vacoules that begin in the mid thoracic level and cause the demyelination of the lateral and posterior columns. This causes loss vibratory, propioceptive and discriminative touch below in addition to UMN signs of the lower extremities. This is called Subacute Combined Degeneration of the Spinal cord.

41
Q

Patient comes in with numbness, burning sensations in the lower extremities and difficulting walking. He says he is an alcoholic that recently stopped drinking because he started losing feeling in his lower legs. Physical exam reveals marked weakness in both lower limbs and hyperreflexia. Upper extremities are normal. What condition does the patient have?

A

Subacute Combine Degeneration of the Spinal cord (SCDSC) give them B12 injections

42
Q

A mother is recently pregnant and as her OB you remind her one of the things she should avoid is fish. What conditions can occur in her child if she avoids your advice?

A

Fish consumption can possibly cause Mercury poisoning.

Mercury acts similarly to Alzheimers in that neurofibrillary tangles form due to the binding of mercury to the tubulin molecules for microtubule formation. This process occurs spefically in the cerebellar granule cells.

Methylmercury is the main culprit and it is not cleared by kidneys and shows increase uptake in brain