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16 Cards in this Set
- Front
- Back
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Tay Sachs
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- hexosaminidase A def, ganglioside storage dz
- build up of GM2 ganglioside - macrocephaly, cherry red spot |
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Gaucher
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- beta-glucosidase deficiency => glucosylceramide build up
- hepatosplenomegaly, CNS dz - sphingolipidoses storage dz |
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sphingolipidoses storage disease
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- gaucher, miemann-Pick, Fabry, Krabbe
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Fabry
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- trihexosylceramide accumulation
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brain cell changes in liver failure vs EtOH
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- LF: decreased astrocytes
- EtOH: decreased pukinje cells in cerebellum 2/2 toxicity of loss of B1 |
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CSF in hypertensive encephalopathy (pt with MS changes and increased BP)
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- increased protein but < 100 mg/dL
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neurologic complication of CRF?
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- peripheral neuropathy - symmetric, distal, mixed motorsensory
- axonal degeneration - improves with dialysis |
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RLS tx
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- exercise before bed
- gabapentin, clonazepam, L-dopa, DA agonists - seen in CRF, DM, anemia |
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Vit B path
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- lateral and posterior corticospinal columns 2/2 demyelination, gliosis, vacuolar degeneration => axonal loss
- sensory and motor => weakness,vibration, position |
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Romberg etiology
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- 2/2 impaired position sense
- posterior columns |
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visual field cut in B12 deficiency
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- centrocecal scotoma
- also seen in tobacco-alcohol amblyopia |
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TB tx
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- give pyridoxine (B6) b/c isoniazid interferes with absorption => peripheral neuropathy
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Wernicke encephalopathy
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- thiamine deficiency
- triad: dementia, gait difficulties, coulomotor paresis |
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deficiency amblyopia
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- physiologic blindspot, blurry vision
- hx smoke and drink - 2/2 ?B1, B12 cyanide poisoning in cigs |
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vegan, anemia, dermatitis, MS changes
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- nicotinic or tyrpotphan def = PELLAGRA
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woman with hemophilia, multiple transfusion now with MS changes?
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- AIDS encephalopathy
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