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NMSP 1 > Toxic & Acquired Metabolic Diseases > Flashcards

Toxic & Acquired Metabolic Diseases Flashcards

1
Q

What are the characteristics of B12 (cobalamin) deficiency?

A
  • normochromic, macrocytic anemia
  • causes subacute degeneration of the spinal cord
  • -ascending posterior columns
  • -descending pyramidal tracts

–Histo: swelling of myelin layers which produces vacuoles, beginning at mid-thoracic level of spinal cord

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2
Q

What are the symptoms and treatment of B12 (cobalamin) deficiency?

A

Initially: B/L symmetrical numbness, tingling, and slight ataxia in the lower extremities

Progression: spastic weakness in lower extremities; late course may result in complete paraplegia

–B12 replacement can improve the disease course unless complete paraplegia has occurred

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3
Q

What are the symptoms of a B1 (thiamine) deficiency (aka Wernicke Encephalopathy)?

A
  • psychotic symptoms
  • ophthalmoplegia

Progression to: Korsakoff Syndrome (irreversible)

  • -short-term memory disturbances
  • -confabulation

Beriberi = cardiac failure

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4
Q

What are the potential causes of B1 (thiamine) deficiency and the treatment?

A
  • chronic alcoholism
  • gastric carcinomas
  • chronic gastritis
  • persistent vomiting

Tx: thiamine replacement (Banana Bags)

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5
Q

What is the histology of B1 (thiamine) deficiency?

A

-hemorrhage and necrosis of mammillary bodies and the walls of the 3rd and 4th ventricles

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6
Q

What areas of the brain are most affected by hypoglycemia?

A
  • large pyramidal neurons of the cerebral cortex
  • pyramidal neurons of Sommer Sector (CA1) of hippocampus
  • Purkinje cells of cerebellum
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7
Q

What can be seen on gross morphology of the brain d/t hypoglycemia?

A

-PSEUDOLAMINAR NECROSIS of the deep layers of the cortex

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8
Q

What are the neuro aspects of hyperglycemia?

A
  • ketoacidosis
  • hyperosmolar coma
  • dehydration
  • confusion/stupor
  • NO significant morphological brain changes

–must correct fluids gradually to avoid severe cerebral edema

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9
Q

What are the neuro aspects of Hepatic Encephalopathy?

A
  • glial response in the CNS
  • elevated ammonia and proinflammatory cytokines
  • Alzheimer Type II cells in cortex, basal ganglia
  • -astrocytes w/ large nuclei and minimal cytoplasm
  • -also seen in Wilson Disease
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10
Q

What are the neuro aspects of carbon monoxide?

A

–hypoxia d/t altered oxygen-carrying capacity of RBC’s

–selective injury to layers III and V of cerebral cortex, Sommer Sector of the hippocampus, and Purkinje cells

–B/L necrosis of globus pallidi (more common in CO hypoxia than in other causes of hypoxia)

–later, demyelination of white matter tracts

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11
Q

What are the neuro aspects of methanol?

A
  • degeneration of retinal ganglion cells
  • blindness
  • B/L putamen necrosis w/ severe exposure

-formate is the major toxic metabolite; disrupts oxphos

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12
Q

What are possible neuro symptoms of chronic ethanol abuse?

A
  • 1% develop cerebellar dysfxn
  • -truncal ataxia
  • -unsteady gait
  • -nystagmus
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13
Q

What is the neuro histology of chronic ethanol abuse?

A
  • atrophy and loss of granule cells in anterior vermis
  • Advanced Cases: “Bergmann Gliosis” b/w the depleted granule cell layer and the molecular cell layer (loss of Purkinje cells, proliferation of adjacent astrocytes)
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14
Q

What are the neuro effects of radiation?

A

-exposure to high dose: intractable nausea, confusion, convulsions, rapid onset of coma, and death

  • delayed effects can occur months to years later
  • -HA, N/V, papilledema
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15
Q

What types of tumors can radiation induce years after the exposure?

A
  • sarcomas
  • gliomas
  • meningiomas
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16
Q

What is seen on histology after radiation exposure?

A
  • COAGULATIVE NECROSIS (primarily white matter) involving all tissue elements in the area, w/ adjacent edema
  • vascular fibrinoid necrosis (thick walls w/ intramural fibrin-like material)
17
Q

What is Neuronal Ceroid Lipofuscinoses (NCL)?

A
  • autosomal recessive lysosomal storage disease
  • accumulation of lipofuscin leading to neuronal dysfxn
  • blindness, mental/motor deterioration, seizures, death
18
Q

What is Krabbe Disease?

A
  • autosomal recessive leukodystrophy
  • deficiency in GALACTOSYLCERAMIDASE

-accumulation of galactocerebroside, so it gets shunted to an alternate pathway which creates galactosylsphingosine (cytotoxic to oligodendroglia)

19
Q

What are the symptoms and potential treatment of Krabbe Disease?

A
  • onset at 3 to 6 months; death by age 2
  • stiffness and weakness
  • feeding difficulties

Tx: potential treatment w/ cord blood prior to becoming symptomatic

20
Q

What is seen on histology of Krabbe Disease?

A
  • loss of myelin and oligodendrocytes in CNS and PNS
  • neurons and axons are spared
  • aggregation of engorged macrophages (globoid cell)
21
Q

What is Metachromatic Leukodystrophy?

A
  • multiple mutations on 22q
  • autosomal recessive disease resulting from arylsulfatase deficiency and accumulation of cerebroside sulfate
  • the sulfatides that accumulate inhibit the differentiation of oligodendrocytes
22
Q

Describe the two forms of Metachromatic Leukodystrophy.

A

Late Infantile/Juvenile:

  • most common
  • motor symptoms
  • gradual progression
  • death in 5 to 10 yrs

Adult:

  • psychiatric and cognitive symptoms initially
  • motor deficits later
23
Q

What is the potential treatment for Metachromatic Leukodystrophy?

A
  • bone marrow stem cell transplant

- -as long as it’s before the neurological deficits

24
Q

What is seen on histology in Metachromatic Leukodystrophy?

A
  • demyelination
  • gliosis (astrocyte hypertrophy and hyperplasia)

-macrophages w/ cytoplasmic vacuoles containing crystalloid structures composed of sulfatides that bind w/ toluidine blue to create the metachromasia

25
Q

How is Metachromatic Leukodystrophy diagnosed?

A

-metachromatic material can be detected in urine

26
Q

What is Adrenoleukodystrophy?

A

–X-linked recessive disease associated w/ mutations on Xq28 which code for ATP-binding cassette transporter proteins (ABCD1) that transport molecules into peroxisomes

–inability to catabolize VLCFA’s, VLCFA’s build up in serum and myelin is progressively lost

27
Q

What are the symptoms of Adrenoleukodystrophy?

A

-adrenal insufficiency and behavior changes in young males

28
Q

What is seen on histology in Adrenoleukodystrophy?

A
  • myelin loss in the CNS and PNS
  • gliosis
  • extensive lymphocytic infiltration
29
Q

What is Pelizaeus-Merzbacher Disease?

A
  • -X-linked fatal leukodystrophy
  • -proteolipid protein (PLP) and DM20
  • -begins just after birth or in early childhood
  • -slowly progressive white matter dysfxn
30
Q

What are the symptoms of Pelizaeus-Merzbacher Disease?

A

Early:

  • pendular eye mvmt
  • hypotonia
  • choreoathetosis

Late:

  • spasticity
  • ataxia
  • dementia
31
Q

What are the characteristics of demyelination in Pelizaeus-Merzbacher Disease?

A
  • myelin is completely lost in the cerebral hemispheres

- patches of myelin may remain in a “tigroid” pattern

32
Q

What is Canavan Disease?

A
  • -mutation on chromosome 17 for aspartoacylase
  • -accumulation of N-acetylaspartic acid
  • -spongy degeneration of white matter
  • -begins in early infancy
  • -fatal within a few years
33
Q

What are the symptoms of Canavan Disease?

A
  • megalocephaly
  • severe mental deficits
  • blindness
34
Q

What is Alexander Disease?

A
  • -mutation in glial fibrillary acid protein
  • -gain-of-function mutation decreases the capacity to form filaments, inducing the stress response

–accumulation of Rosenthal Fibers around blood vessels, subpial zones, and ependymal zones

–white matter loss occurs in a frontal-occipital gradient

35
Q

What is Vanishing White Matter Leukodystrophy?

A
  • mutations in eukaryotic initiating factor 2B (EIF2B)
  • brain injury of primarily white matter
  • begins in the first few years of life
  • ataxia and seizures

-characteristic progression exacerbated by intercurrent illnesses; patients only survive a few years after onset

NMSP 1 (9 decks)

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