Toxic Metabolite Disorders

Question 1

genetic metabolic diseases

Answer 1

neuronal storage diseases: neuronal ceroid lipofuscinoses, tay-sachs, niemann-pick

dysmelinating diseases (leukodystrophies)

mitochondrial diseases

Question 2

when do dysmyelinating diseases present?

Answer 2

early in childhood; some have infantile juvenile, or adult forms.

Question 3

what is spared in dysmyelinating diseases?

Answer 3

subcortical U fibers

Question 4

which part of the brain (and what tissue) tends to be damaged in adrenoleukodystrophy?

Answer 4

occipital white matter

Question 5

mitochondrial encephalomyopathies

Answer 5

leigh syndrome (subacute necrotizing encephalopathy), neuropathy, ataxia, retinitis pigmentosa, myoclonic epilepsy and ragged red fibers, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, kearns-Sayre syndrome: ataxia, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects

Question 6

different presentations of Wernicke’s vs korsakoff’s syndrome

Answer 6

Wernicke’s encephalopathy: acute ophthalmoplegia, ataxia, confusion

korsakoff’s psychosis: permanent memory deficit, confabulation

Question 7

thiamine deficiency damages the..

Answer 7

mitochondrial

Question 8

areas of the brain with damage due to Wernicke-korsakoff syndrome

Answer 8

hemorrhagic mammillary bodies and periventricular areas

Question 9

problems caused by cobalamin deficiency

Answer 9

subacute combined degeneration of the spinal cord: myelin vacuolization in dorsal and lateral columns; memory problems, megaloblastic anemia

Question 10

hepatic encephalopathy/cirrhosis causes this type of glia

Answer 10

Alzheimer type II glia (correlates with blood ammonium levels)

Question 11

carbon monoxide gross pathology

Answer 11

bilateral globus pallidus necrosis (also seen in cyanide poisoning), demyelination in white matter tracts

Question 12

pathology of methanol poisoning

Answer 12

degeneration of retinal ganglion cells (hence blindness), bilateral putamen necrosis

Question 13

problems with methotrexate in conjunction with radiation

Answer 13

extensive white matter necrosis, serious side effect of treatment of glial neoplasms