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Metabolic Disorders in CNS

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Nystagmus, ataxia, and mental confusion seen in alcoholics.
Wernicke encephalopathy
Retrograde and anterograde amnesia with confabulation seen in alcoholics.
Korsakoff psychosis
Wernicke-Korsakoff is due to a deficiency in ___.
thiamine
Discoloration is seen in ____ in Wernicke-Korsakoff.
mammillary bodies, hypothalmus, and periaqueductal gray matter
Mild form of fetal alcohol syndrome
fetal alcohol effect
FAS is associated w/ ?
growth retardation, facial abnormalities, and intellectual impairment, behavioral problems, mircrocephaly
Alcohol effects which development epoch?
Neurogenesis for microcephaly, migration for the other lesions
Important CNS feature of alcoholism
cerebellar degeneration
Patient comes in w/ hyponatremia and you normalize patient's sodium too fast.
Central pontine myelinolysis
Demyelination of corpus callosum seen in Italian men who drank cheap red wine.
Marchiafava-Bignami Disease
Subacute combined degeneration is seen in deficiencies of _____
B12 (most common) and folate
Folate deficiecy in pregnancy can lead to ____
neural tube defects
Organellar reactions to heavy metals:
1. mitochondria initiate apoptosis
2. protein syntheis lost in ER
3. nuclear proteins are altered
Heavy metals are more pathogenic in adults/children?
children b/c they can concentrate the heavy metals more
Pathogenesis of mercury
alters enzymatic reactions
Fetal mercury exposure causes
microcephaly and abnormality in neuronal migration
Presenting symptom of methanol poisoning
blindness
Methanol is metabolized to
formic acid
Formic acid causes lesions in the ?
retinal cells, cerebral cortex, and putamen
Carbon monoxide causes lesions in
globus pallidus
Seen in people w/ cirrhosis and liver failure and have hyperammonemia
Hepatic Encephalpathy
Histolic finding in hepatic encephalopathy
Alzheimer type 2 astrocytes
Wilson's disease is a disease of ____ metabolism
coppper
Copper deposits in eye
Kaiser Fleischer ring
Comatose, fatty liver, strong association w/ aspirin
Reye's syndrome
"Mad as a hatter"
Mercury poisoning
Degeneration of posterior columns extending from thoracic cord to nucleus gracilis is seen in this deficiency.
Vitamin E
Most enzyme deficiencies are inherited in a ____ fashion
Autosommal Recessive
Lysosomal storage disease that occurs in the neuronal cell body.
Neuronal lipidosis
Common histological finding in mucopolysaccharidoses
zebra bodies
Histological finding in Tay Sachs
membranous cytoplasmic bodies
Problem w/ storage of sphingolipids
Gangliosidoses
Storage diseases are primarily ___ matter diseases and present with ___ and ____.
gray, seizures and loss of cognitive ability
Tay Sachs is a deficiency in hexosaminnidase A and results in accumulation of ____.
GM2 gangliosides
Symptoms of Tay Sachs
dementia, blindness (retinal degeneration)
A arylsulfatase A deficiency causes an accumulation of myelin sulfatide in both oligodendroglia and Schwann cells.
Metachromic Leukodystrophy

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