Term
| damage to what structure accounts for the memory disturbance and confabulation in korsakoff syndrome? |
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Definition
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Term
| Niacin deficiency leads to what disease? what causes this deficiency? |
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Definition
| pellagra (diarrhea, dementia, dermatitis); caused by dietary deficiency, can be precipitated by alcoholism, anti-tb rx, anti-neoplastic rx |
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Term
| microscopic changes assoc with niacin deficiency? and in what areas of the brain? |
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Definition
| enlarged neurons w/peripheral displacement of nucleus and loss of nissil granules (central chromatolysis) involving cerebral cortex (esp motor), basal ganglia, brainstem and spinal cord |
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Term
| vit b12 deficiency leads to what disease? why would we be deficient? |
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Definition
| subacute combined degeneration. dietary deficiency (meat&dairy), intrinsic factor deficiency (pernicious anemia), gastric carcionma, post-gastrectomy, small int diseases. |
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Term
| what are the cliical sx assoc with SACD? |
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Definition
| posterior column: symmetric paresthesias of hands and feet, diminished proprioceptive and vibratory sense, romberg sign, ataxia; lateral columns: weakness, spasticity; central myelin: depression, memory disturbance, dementia |
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Term
| microscopic findings in SACD? |
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Definition
| vacuolation, foamy macs, gliosis (in post and lat columns) maximally seen at mid-thoracic level |
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Term
| what causes the pathology in SACD? |
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Definition
| inhibition of methylation of mylein basic protein |
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Term
| who is at risk for vit E deficiency? |
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Definition
| cystic fibrosis, biliary atresia, chronic cholestasis, intestinal malabsorption, abetalipoproteinemia |
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Term
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Definition
| weakness, areflexia, ataxia, loss of proprioceptive sensations |
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Term
| microscopic changes with vit E deficiency? |
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Definition
| dystrophic axons (enlarged, accumulation of filaments, membranes etc) esp in gracile nucleus. demyleination of post column and peripheral neuropathy |
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Term
| if death occurs after survival of 6 days or more of CO poisoning, what gross changes do we see in the brain? |
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Definition
| bilateral pallidal necrosis (rich iron environment), grinker's myelinopathy |
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Term
| what are 2 types of cells we would expect to see in hepatic encephalopathy? and where in the brain? |
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Definition
| alzheimer type 2 & watery clear naked nucleus; basal ganglia, dentate nucleus, lower layers of cortex |
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Term
| is hepatic encephalopathy reversible? why or why not? |
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Definition
| yes, bc neurological manifestations (i.e. coma) is explained by NT imbalance, not structural change/damage |
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Term
| what is the cause of central pontine myelinolysis? |
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Definition
| sudden shift in osmolality d/t rapid over correction of hyponatremia to hypernatremia |
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Term
| microscopic changes seen with central pontine myelinosis? |
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Definition
| diamond shaped area of demyelination at center of pons (discoloration, granularity) |
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Term
| clinical sx of central pontine myelinosis? |
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Definition
| CST involvement = quadriplegia; CST sparing reticular formation = locked in syndrome; CST + reticular formation = coma |
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Term
| what is marchiafava-bignami disease? |
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Definition
| (alcohol related) interhemispheric disconnection syndrome, cystic lesions in corpus callosum |
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Term
| what toxic effects do we see with dilantin? |
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Definition
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Term
| what tox do we see with methotrexate + radiotherapy? |
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Definition
| necrotizing leukoencephalopathy |
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Term
| what tox do we see with ephedrine, phenylpropanolamine, pseudoehphidrine? |
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Definition
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Term
| what tox do we expect with gadolinium? |
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Definition
| nephrogenic systemic fibrosis |
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Term
| what neuro changes are seen in cocaine abusers? |
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Definition
| grandmal seizures, resp collapse, TIA, brain&spinal infarctions, intraparenchymal&subarachnoid hemorrhage |
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Term
| amphetamines cause what neuro structural changes? |
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Definition
| necrotizing arteritis, intraparenchymal and subarachnoid hemorrhage |
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Term
| what structural neuro damage is done by pcp? |
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Definition
| subarachnoid and intraparenchymal hemorrhage |
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Term
| what neuro damage do we see with heroin use? |
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Definition
| pulm/cerebral edema, cerebral and spinal cord infarcts, global hypoxic-ischemic encephalopathy |
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Term
| how does lead poisoning present in children vs adults? |
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Definition
| children presents as acute encephalopathy (irritability, HA, seizures, increased ICP, ataxia, drowsiness and coma; endothelial and vascular injury --> increased permeability --> edema -->herniation and death) or impaired intellectual development; adults seen as demyelinating neuropathy (radial nerve palsy aka wrist drop) |
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Term
| how does one become poisoned by mercury? and what are the clinical sx? |
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Definition
| fish/grain contaminated by mercury containing fungicide; bizarre behavioral changes, intention tremors, movement disorder, peripheral neuropathy, cortical blindness, impaired proprioception, movement disorder, mental retardation (cerebellar atrophy, pre and post central gyral atrophy, calcarine cortex atrophy) |
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Term
| what is kernicterus? what are the clinical sx and structural findings? |
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Definition
| bilirubin encephalopathy; stupor, hypotonia/hypertonia, shrill cry, poor suckling. see yellow stains by free bilirubin in NUCLEAR groups (basal ganglia, subthalamic nucleus, hippocampus, brainstem nuclei, dentate nuclei) |
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Term
| what is kernicterus? what are the clinical sx and structural findings? |
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Definition
| bilirubin encephalopathy; stupor, hypotonia/hypertonia, shrill cry, poor suckling. see yellow stains by free bilirubin in NUCLEAR groups (basal ganglia, subthalamic nucleus, hippocampus, brainstem nuclei, dentate nuclei) |
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Term
| what is the inheritance pattern of gaucher's disease? what enzyme is deficient? what storage product accumulates? what chromosome is the gene located on? |
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Definition
| autosomal recessive; deficient glucosylceramidase --> accumulation of glucocerebroside within macrophages (gaucher cells) with characteristic wrinkled tissue paper appearance; chr 1q21 |
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Term
| what is the rapidly progressive, fatal form of gaucher's disease? |
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Definition
| acute neuronopathic infantile type (type II). CNS involvement prominent with widespread neuronal degeneration, gliosis, perivascular gaucher's cells esp in occipital cortex |
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Term
| what enzyme is deficient in neimann-pick's disease? what storage product accumulates? |
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Definition
| sphingomyelinase deficiency --> sphingomyelin accumulation |
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Term
| tay-sachs disease: what is the enzyme deficient? what product accumulates? what is the inheritance pattern? |
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Definition
| hexosaminidase A deficiency --> ganglioside accumulation (aka GM2 gangliosidosis); autosomal recessive |
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Term
| what clinical sx are assoc with tay sachs? |
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Definition
| infant: exaggerated startle response by 3 mos; macrocrania; cherry-red spot; hyperexcitability; hypotonia, opisthotonus, decerebrate posturing |
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Term
| what pathological changes do we see in brains of infants with tay sachs? |
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Definition
| early see enlarged brain, late see atrophic. ballooned neurons in every section of brain/spinal cord, MEMBRANOUS CYTOPLASMIC BODIES, death by 5 y/o |
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Term
| neuronal ceroid lipofuscinosis: deficient enzyme? storage product accumulated? mode of inheritance? chromosomes involved? |
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Definition
| polmitoyl-protein thioesterase deficient --> saposin accumulation. autosomal recessive; infantile (chr1), late infantile (chr 11, 13, 15), juvenile (chr16) |
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|
Term
| clinical sx of neuronal ceroid lipofuscinosis? |
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Definition
| progressive mental and motor retardation, seizures, blindness |
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|
Term
| what neuronal changes do we see with neuronal ceroid lipofuscinosis? |
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Definition
| ballooned neurons with PAS+, fluorescent, acid fast lipopigments seeen --> resultant neuronal loss and gliosis |
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Term
| what can we see on EM in neuronal ceroid lipofuscinosis? (infantile vs late infantile vs juvenile) |
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Definition
| infantile: granular osmophilic deposits; late infantile - curvilinear profiles; juvenile - fingerprint profile (most common, 4-9 y/o) |
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Term
| what are the 2 mucopolysarchridosis disorders? what is commonly seen on EM in both? |
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Definition
| hurler (MPS1H) & hunter (MPSII); see zebra bodies on EM in both |
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Term
| hurler syndrome - enzyme deficiency? storage product accumulated? chromosome involved? pattern of inheritance? |
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Definition
| a-L-iduronidase deficiency --> accumulation of dermatan and heparan sulfate; chr 4p16, auto recessive |
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Term
| clinical sx of hurler syndrome? |
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Definition
| short stature, coarse face, CORNEAL CLOUDING, protuberant abdomen (hepatosplenomeg), mental retardation, thickened calvarium, thick irregular clavicles, hernias, deafness, cardiac disease, carpal tunnel, macroglossia, enlarged adenoids, hydrocephalus |
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Term
| clinical sx of hurler syndrome? |
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Definition
| (more a disease of infancy) short stature, coarse face, CORNEAL CLOUDING, protuberant abdomen (hepatosplenomeg), mental retardation, thickened calvarium, thick irregular clavicles, hernias, deafness, cardiac disease, carpal tunnel, macroglossia, enlarged adenoids, hydrocephalus |
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Term
| pathological changes seen with hurler syndrome? |
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Definition
| leptomeningeal thickening, increased perivascular spaces in white matter (virchow robbins), ballooned neurons |
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Term
| hunter syndrome - enzyme deficient? accumulation of what? pattern of inheritance? chromosome involved? |
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Definition
| a-1-iduronate-2-sulfatase deficiency --> accumulation of dermatan and heparan sulfate; x-linked recessive, Xq27-28 |
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Term
| pompe's disease - enzyme deficient? accumulation of what? chromosome involved? pattern of inheritance? |
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Definition
| acid maltase deficiency --> glycogen accumulation. chr 17, auto recessive |
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Term
| clinical sx of pompe's disease? |
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Definition
| hypotonia, cardiac failure, cardiomegaly, macroglossia, hepatomegaly, hypothermia (death by 2 y/o from cardiac or resp compromise) |
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Term
| wilson's disease - pattern of inheritance? gene involved? |
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Definition
| autosomal recessive, chr 13 |
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Term
| what 3 abnormal cells are seen in wilsons disease? |
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Definition
| alzheimer type 1 and 2 astrocytes + opalski cells |
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Term
| what is the enzyme defect in wilson's disease? |
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Definition
| defective function of ATP7B (chr 13 - is a membrane bound copper transporting ATPase enzyme) --> defective transport of copper out of hepatocyte --> defective copper elimination by biliary excretion |
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Term
| what enzyme is defective in menke's kinky hair disease? |
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Definition
| ATP7A, copper transporter --> defective copper transport --> copper deficiency (x-linked recessive) |
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|
Term
| what is the enzyme deficiency in leigh's disease? |
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Definition
| cytochrome C oxidase and pyruvate dehydrogenase (raised lactate in CSF and blood) |
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Term
| clincal sx of leigh's disease? |
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Definition
| psychomotor retardation, difficulty suckling, swallowing, loss of apetite, vomiting, hypotonia, weakness, ataxia, opthalmoplegia, nystagmus, high pitched cry, breathing problems, recurrent resp infections (death usually from resp fail) |
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Term
| leigh's disease pathologically identical to what other disease? how do we tell them apart? |
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Definition
| wernicke's. in leighs, mammillary bodies are spared, there is absence of petechial hemorrhage, and substantia nigra is involved |
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|
Term
| zellweger's syndrome - what enzyme is deficient? what accumulates? chr? pattern of inheritance? |
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Definition
| peroxismal disorder (deficiency of catalase and h202 producing oxidase enzymes) --> acids accumulate; auto recessive, chr 7 |
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Term
| clinical sx of zellweger's? |
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Definition
| psychomotor retardation, hypotonia, hippocampal folds, look like down syndrome, corneal clouding, cataracts, renal cysts, vsd, tetralogy of fallot |
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Term
| what pathological changes in the brian do we see with zellwegers? |
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Definition
| pachygyria, polymicrogyria, lissencephaly, smooth brain, neuronal heterotopia, neurons seen where theyre not supposed to be |
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