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| 8684074124 | neuronal ceroid lipofuscinoses | group of inherited storage disorders of the brain and retina with mostly autosomal recessive inheritance | 0 | |
| 8684077913 | retinopathy with vision loss epilepsy dementia | 3 common features of neuronal ceroid lipofuscinoses | 1 | |
| 8684079991 | CLN1-CLN10 | types of neuronal ceroid lipofuscinoses | 2 | |
| 8684081746 | CLN1: palmitoyl protein thioesterase I CLN2: lysosomal tripeptide peptidase I | deficient lysosomal enzymes associated with 2 NCL disorders | 3 | |
| 8684086350 | 4 yr | when does death occur in CLN1 | 4 | |
| 8684087689 | 12 | when does death occur in CLN2 | 5 | |
| 8684087910 | third decade | when does death occur in CLN3 | 6 | |
| 8684089066 | fourth decade | when does death occur in CLN4 | 7 | |
| 8684090081 | intracellular accumulation of autofluorescent material (yellow with UV light) | NCL disorders are characterized histopathologically by | 8 | |
| 8684096612 | subunit c of mitochondrial ATP synthase sphingolipid activator proteins | 2 most important components of NCL lipopigments | 9 | |
| 8684100041 | Krabbe disease -cytotoxic compound causing oligodendrocyte injury | AR leukodystrophy resulting from a galactocerebroside beta-galactosidase -end result | 10 | |
| 8684103734 | stiffness, weakness, difficulties feeding | 3 clinical symptoms of Krabbe disease | 11 | |
| 8684104513 | globoid cells | microscopic finding of Krabbe disease | 12 | |
| 8684105735 | metachromatic leukodystrophy | AR progressive storage disorder of myelin-producing cells caused by a deficiency of the lysosomal enzyme arylsulfatase A | 13 | |
| 8684108594 | infantile metachromatic leukodystrophy | ataxia, dysarthria, dysphagia, vision/hearing abnormalities | 14 | |
| 8684110396 | adult metachromatic leukodystrophy | behavior changes, inappropriate behavior, emotional liability, dementia | 15 | |
| 8684112101 | toluidine blue stain of macs | metachromatic leukodystrophy: metachromatic material appears on | 16 | |
| 8684115925 | adrenoleukodystrophy -myelin of brain, adrenal cortex, Leydig cells in testes | disorder of fatty acid beta oxidation in peroxisomes which results in the accumulation of very long chain fatty acids in tissues throughout the body -most severely affected tissues | 17 | |
| 8684120981 | ABCD1 | gene mutation of adrenoleukodystrophy | 18 | |
| 8684122354 | males only | common pt of adrenoleukodystrophy | 19 | |
| 8684123218 | emotional instability | intial symptom of adrenoleukodystrophy | 20 | |
| 8684125010 | visual disturbances, spatial disorientation, poor coordination, seizures | later symptoms (4) of adrenoleukodystrophy | 21 | |
| 8684127967 | -demyelination with loss of oligodendrocytes -perivascular lymphocyte cuffing -lipophage accumulation | 3 histopathologic findings of adrenoleukodystrophy | 22 | |
| 8684131142 | mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) | defined by recurrent periods of acute neurologic dysfunction, cognitive changes, muscle weakness, lactic acidosis | 23 | |
| 8684133156 | tRNA | most common mutation associated with MELAS | 24 | |
| 8684134640 | myoclonic epilepsy with ragged red fibers (MERRF) | maternally transmitted disease with seizure disorders, myoclonus and features of myopathy | 25 | |
| 8684136500 | Leigh syndrome | lactic academia, psychomotor development arrest, feeding abnormalities, seizure disorders, weakness and hypotonia | 26 | |
| 8684141305 | symmetrical regions of brain destruction spongiform appearance | pathological features of Leigh syndrome (2) | 27 | |
| 8684143433 | beriberi | thiamine deficiency results in | 28 | |
| 8684144475 | Korsakoff's syndrome | characterized clinically by memory disturbances and confabulation | 29 | |
| 8684146223 | Wernicke's encephalopathy | characterized by hemorrhage and necrosis in the mamillary bodies in the walls of the 3rd and 4th ventricles | 30 | |
| 8684148440 | subacute combined degeneration of SC -pernicious anemia | degeneration of posterior and lateral columns of the SC as a result of vitamin B12 deficiency -usually associated with | 31 | |
| 8684151421 | parietal cells in stomach | pernicious anemia targets | 32 | |
| 8684153226 | numbness and tingling in extremities--spastic weakness of lower extremity | symptom of vitamin B12 deficiency | 33 | |
| 8684156146 | pyramidal neurons of cerebral cortex -cortical pseudolaminar necrosis | lower glucose levels in brain result in selective injury to -if severe | 34 | |
| 8684159204 | hyperglycemia -coma | most commonly associated in uncontrolled or poorly controlled pt with diabetes mellitus and associated with ketoacidosis and hyperosmolar coma -affected pt ultimately develop | 35 | |
| 8684162678 | hypoxia: CO interferes with O2 carrying ability of hemoglobin | brain injury in acute CO exposure is result of | 36 | |
| 8684165107 | bilateral necrosis of globus pallidus | finding that correlates with carbon monoxide more than other forms of hypoxia | 37 | |
| 8684166006 | retina | methanol toxicity affects | 38 | |
| 8684169346 | atrophy and loss of granule layer in anterior cerebellar vermis | histological appearance of ethanol poisoning of brain for chronic alcoholics | 39 | |
| 8684170613 | Bergmann gliosis | loss of Purkinje cells and proliferation of adjacent astrocytes between the granular and molecular layers of the cerebellum in advanced cases of chronic alcohol abuse | 40 | |
| 8684173628 | coma | CNS: high doses of radiation can lead to | 41 | |
| 8684174175 | white matter | area of CNS affected by radiation induced injury | 42 |
