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34 Cards in this Set
- Front
- Back
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What cells are most affected in LSDs? |
1. Neurons 2. Histiocytes |
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In what ethnic group does Tay-Sachs typically present? |
1. Ashkenazi Jews |
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What is deficient in Tay-Sachs? |
1. Hexosaminidase A 2. Permits accumulation of ganglioside in CNS neurons |
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What are the ssx of Tay-Sachs? |
1. Cherry-red spot in macula 2. Blindness 3. Developmental delay 4. Paralysis 5. Loss of neurologic function |
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What is the MC LSD? |
1. Gaucher disease |
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What is deficient in Gaucher disease? |
1. Glucocerebrosidase 2. Accumulation of glucocerebroside--- "crinkled paper" 3. ^^Known as Gaucher cells |
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What are the ssx of Gaucher disease? |
1. Hepatosplenomegaly 2. Pancytopenia 3. Osteoporosis 4. Aseptic necrosis of femur |
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What is deficient in Niemann-Pick disease? |
1. Acid sphingomyelinase deficiency 2. Buildup of sphingomyelin |
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What are the ssx of Niemann-Pick disease? |
1. Cherry spot on macula 2. Hepatosplenomegaly 3. Progressive neurodegeneration 4. Foam cells |
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What is deficient in Krabbe disease? |
1. Galactocerebrosidase 2. Increased levels of galactosylphingosine |
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What are the ssx of Krabbe disease? |
1. Stiffness, weakness, and difficulty eating at 3-6 mos. 2. Aggregation of engorged macrophages, or globoid cells, around blood vessels |
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What is the MC leukodystrophy? |
1. Metachromatic |
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What is deficient in metachromatic leukodystrophy? |
1. Arylsulfatase A 2. Accumulation of cerebroside sulfate |
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What are the ssx of metachromatic leukodystrophy? |
1. Demyelination with resulting gliosis 2. Macrophages with vacuolated cytoplasm 3. Brown metachromasia |
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What is deficient in XALD? |
1. Defective transport of VLCFAs into the peroxisome |
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What are the ssx of XALD? |
1. Adrenal insufficiency 2. Myelin loss in CNS and PNS |
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What is deficient in PKU? |
1. Phenylalanine hydroxylase 2. Leads to hyperphenylalaninemia |
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What are the ssx of PKU? |
1. Severe mental retardation 2. Seizures 3. Microcephaly 4. Musty odor |
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What is the MCC of congenital hypothyroidism? |
1. Maternal medication during pregnancy 2. Maternal autoimmune disease 3. Too much iodine
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What is the MCC of Wernicke encephalopathy? |
1. Low thiamine |
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What are the ssx of Wernicke encephalopathy? |
1. Psychotic ssx 2. Ophtalmoplegia |
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What are the ssx of Korsakoff syndrome? |
1. Short-term memory disturbance 2. Confabulation |
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What are the MCC of Korsakoff syndrome? |
1. Thiamine deficiency 2. Alcoholism |
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What are the ssx of Wernicke Korsakoff syndrome? |
1. Eye abnormalities 2. Ataxia 3. Mental ssx 4. Peripheral neuropathy |
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What is damaged in Wernicke Korsakoff syndrome? |
1. Mamillary bodies |
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What are the MCC of a B12 deficiency? |
1. H. pylori gastritis 2. Pernicious anemia 3. Surgical resection 4. Gastric tumors |
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What are the ssx of a B12 deficiency? |
1. Megaloblastic anemia 2. Diarrhea/constipation 3. Glossitis 4. Loss of dorsal funiculus (long-term) |
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What is the histological appearance of a B12 deficiency in the spinal cord? |
1. Spongy white matter 2. Disintegration of myelin |
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What are the ssx of acute alcohol intoxication? |
1. CNS depression 2. N/V 3. Psychoactive effects |
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What is minor alcohol withdrawal? |
1. Anxiety 2. Tremor 3. N/V 4. Insomnia |
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What is major withdrawal? |
1. Visual and auditory hallucinations 2. Whole body tremors 3. Sweating 4. HTN |
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What is delirium tremens? |
1. Agitation 2. Global confusion 3. Hallucinations 4. Fever 5. Up-regulated autonomic system |
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What are the chronic CNS sequelae to long-term alcohol abuse? |
1. W/K syndrome 2. Cerebellar dysfunction |
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What is the histological appearance of radiation overdose? |
1. Coagulative necrosis 2. Surrounding brain is edemaotus 3. May see fibrinous necrosis |
