Path - Classic presentations
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| Toxoplasma gondii triad in TORCH infection |
chorioretinitis intracranial calcifications Hydrocephalus |
| Congenital rubella |
Deafness Cataracts (white pupils) PDA (or other heart defects) Mental retardation |
| Chediak-Higashi syndrome |
AR disorder characterized by neutropenia, albinism, cranial and peripheral neuropathy and tendency to develop repeated infections. Decreased phagocytosis d/t microtubule polymerization defect |
| Hereditary thrombophilia | Prothrombotic familial syndrome that usually affects adolescents and young women. Can be due to a deficiency in a varity of antithrombotic proteins, including antithrombin III, Protein C, etc. or most commonly, Factor V Leiden |
| Sjogren's Syndrome |
-Dry eyes, dry mouth + another autoimmune disease such as SLE, scleroderma, polymyositis -Hypergammaglobulinemia and anti-SS-B |
| Scleroderma (progressive systemic sclerosis) |
Skin changes (fixed face), polyarthalgias, esophageal symptoms -Anti-Scl-70 CREST is a variant |
| CREST syndrome |
-a type of scleroderma Calcinosis, Raynauds, Esophageal dysfunction, Sclerodactyly, Telangectasia |
| Primary amyloidosis |
-Caused by deposition of amyloid derived from Ig light chains (AL) -Deposition in heart, muscle, tongue, maybe kidney -Frequently associated with plasma cell disorders such as MM, Waldenstrom |
| Secondary amyloidosis |
"Reactive systemic" -AA protein derived from serum precursor -Involves kidney, liver, adrenals, pancreas, spleen, LNs -Often a complication of chronic inflammatory disease such as RA, TB, syph, leprosy |
| Wernicke-Korsakoff |
-Alcoholics with thiamine defic. -Ataxia, confusion, ophthalmoplegia, then memory loss and confabulation |
| Plummer-Vinson syndrome |
Atrophic glossitis, esophageal webs, anemia; all d/t iron deficiency **Predisposes to Squamous cell carcinoma of esophagus |
| Polyarteritis Nodosa |
-Necrotizing IC inflammation of small/med arteries -Fever, weight loss, maliase, abd pain, melena, HA, etc. -Assoc. with Hep B in 30% -Aneurysmal nodules -Lesions at different stages |
| Churg-Strauss |
-Variant of PAN -Allergic, asthma, eosinophilia -Involvement of pulmonary vasculature |
| Hypersensitivity (leukocytoclastic) vasculitides |
-IC mediated; multiple lesions of same age -Manifest by palpable purpura -May be precipitated by exogenous antigens or complication of systemic illness -HS-pupura and Serum sickness |
| Henoch-Schonlein purpura |
-Most common in young kids -hypersens. vasculitis -hemorrhagic urticaria of extensor surfaces (palp. purp) -GI and renal involvement -Can occur after URI -Common triad = skin, joints, GI |
| Wegener's Granulomatosis |
-Necrotizing granulomatous vasculitis -small/med vessels in lungs/kid. -Sx are URI, sinuses, glomerulonephritis -C-ANCA + -Tx with cyclophos + steroids |
| Temporal Arteritis |
-Giant cell vasculitis -Elderly -H/A, claudication of jaw, tenderness and palpable nodules on involved artery -Visual impairment, polymyalgia rheumatica |
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Takayasu arteritis (pulseless disease) |
--Giant cell - frequent involvment of aortic arch and branches --Absent pulses in carotid, radial, ulnar arteries --Const. symptoms --Granulomatous |
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Kawasaki disease aka Mucocutaneous LN Syndrome |
-Acute, self-limited in kids -necrotizing vasc. of small/med aa -Fever, hemorrhagic edema of conjunctivae, lips, oral mucosa "Strawberry tongue" **May develop coronary aneurysms!! |
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Buerger's disease aka thromboangiitis obliterans |
-Small/med vessel vascul. -Painful ischemic disease -More common in young men -Heavy smokers! |
| Microscopic polyangitis |
-Like Wegener's but no granulom. -p-ANCA -small vessels |
| Sturg-Weber |
-Congenital vascular disorder that affects capillaries. -Port-wine stain on face -Leptomeningeal angiomatosis (intracerebral AVM) |
| Syringomyelia |
-Enlargement of central canal of SC -Often presents in pts with Arnold-Chiari malformation -Most common at C8-T1 -Crossing fibers of spinothalamic tract damaged -Bilateral loss of pain/temp in UE |
| Tabes Dorsalis |
-Degeneration of dorsal col. d/t tertiary syph -Impaired proprio./ataxia -Charcot joints, shooting pain, Argyll-Robertson pupils -Absence of DTRs |
| Brown-Sequard Syndrome |
-Hemisection of spinal cord -Loss of vibration/propr/motor ipsilaterally below lesion -Motor signs are UMN -Loss of pain/temp contral. |
| Horner's Syndrome |
-Lesion of SC above T1 or from Pancoast's tumor. -Ptosis, Miosis, anhidrosis -Sympathectomy of the face |
| Kartagener's syndrome |
-Immotile cilia d/t a dynein arm defect -Results in male/female infert. -Bronchiectasis -Recurrent sinusitis -Assoc. with situs inversus (dextrocardia) |
| Sarcoidosis |
-non-caseating granulomas -ILD, enlarged hilar LNs, anterior uveitis, erythem nodosum, polyarthritis, hypergammaglobulinemia, hypercalcemia, increase activity of ACE. -High CD4/CD8 ratio |
| Chronic Granulomatous Disease |
-Defect in phagocytosis d/t lack of NADPH oxidase activity. -Marked susceptibility to opportunistic infections with bacteria that produce catalase -Dx confirmed with negative nitroblue tetrazolium test. |
| Autoimmune gastritis (vs. H pylori gastritis) |
-Abs to parietal cells -Achlorhydria, pernicious anemia -Assoc. with other autoimm. diseases such as chronic thyroiditis and Addison's -Also assoc. with aging, partial gastrectomy, ulcer, crnma |
| Plummer-Vinson syndrome |
Triad: 1. dysphagia 2. glossitis 3. Iron deficiency anemia |
| Whipple's disease |
PAS-positive macrophages in intestinal LP/mesenteric nodes -Arthralgias, cardiac and neuro sx -Older men |
| Gilbert Syndrome |
-Common hereditary -Mild elevation in serum unconjugated bilirubin -Dec uptake of bili and dec. UDP-glucuronyl transferase activity -No clinical consequences -Associated with stress |
| Crigler-Najjar |
-Absent UDP-glucoronyl transferase -Severe unconjugated hyperbili -Type 1 leads to early death; damage to CNS & basal ganglia -Type 2 less severe; responds to phenobarb, which inc. NZ |
| Dubin-Johnson Syndrome |
AR form of unconjugated hyperbilirubinemia -Defective liver excretion/trans. -Grossly black liver; Benign -Rotor's syndrome is similar and milder without black liver. |
| Reye's Syndrome |
-Encephalopathy, coma, microvesicular fatty liver -Assoc. with aspiring administration to kids with acute viral infections |
| Primary biliary cirrhosis |
-autoimmune with anti-mitochondrial Abs -Middle aged women -Severe obstructive jaundice, itching, and hypercholesterolemia -Assoc. with CREST/scleroderma |
| Primary sclerosing cholangitis |
-Rare, except in assoc. with IBD, esp. UC -Inflammation, "onion skin" fibrosis, stenosis of bile ducts -Beading on ERCP -Eventually develops into biliary cirrhosis -Assoc. inc. in cholangiocarcinoma |
| Budd-Chiari syndrome |
-Caused by thrombotic occlusion of major hepatic vv. -Abd pain, jaundice, hepatomeg, ascites, liver failure -Assoc. with polycythemia vera, hepatocellular crnma, other abdom. neoplasms, pregnancy |
| Peutz-Jeghers Syndrome |
Benign polyposis syndrome -Inc. risk of CRC and other visceral malignancies -Hamartomatous colon polyps, hyperpigmented mouth, lips, hands, genitalia |
| Goodpasture Syndrome |
Anti-GBM disease -Abs directed at glom. and alveolar BMs -Linear immunofluorescence -Nephritis syndrome -Pneumonitis with hemoptysis -Men in mid-20s -RPGN crescentic morphology -Type II hypersensitivity |
| Fanconi syndrome |
-Generalized dysfunction of PT in kidneys -Hereditary or acquired -Impaired reabsorption of glucose, AAs, phosphate, bicarb -High levels of these things in urine with hypophosphatemia and systemic acidosis |
| Hartnup Disease |
-Impaired tubular reabsorption of tryptophan -Since niacin is synthesized from tryptophan, get pellagra-like sx (Diarrhea, dermatitis, dementia) |
| I Cell disease |
Failure of addition of mannose-6-phosphate to lysosome proteins. Enzymes secreted outside the cell instead of put into lysosomes -Coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes -Fatal in childhoos |
| Ehlers Danlos |
Abnormalities in collagen synthesis (mostly type III) -Hyperextensible skin, bleeding tendency, hypermobile joints, tissue fragility -Assoc with berry aneurysms -Inheritance varies. |
| Osteogenesis Imperfecta |
-Abnl collagen synthesis -Most common form is AD abnl collagen type I -Multiple fractures, blue sclerae, hearing loss, dental imperfections -Type II is fatal in neonatal period |
| Paget's Disease |
-Most common in elderly -Abnl bone d/t increases in osteoclast and blast activity -Marked increase in serum AlkP -Bone pain/fractures, high-output cardiac failure, hearing loss, osteosarcoma |
| McCune-Albright syndrome |
-polyostotic fibrous dysplasia (replacement of parts of bone with fibrous tissue), precocious puberty, short -occur in young girls Usu caused by mutation of GNAS1 (post-zygotic so not hereditary) |
| Legg-Calve-Perthes disease | aseptic (avascular) necrosis of head of femur |
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Tuberculous osteomyeitis Where does it commony occur? |
-Vertebrae (Pott disease) -Hip -Long bones, especially femur and tibia -bones of hands and feet |
| Meigs syndrome |
-Triad: Ovarian fibroma Ascites Hyrothorax |
| HELLP Syndrome |
Hemolysis, Elevated Liver enzymes, Low Platelets -Variant of pre-eclampsia |
| Ataxia-Telangectasia |
Defect in DNA repair enzymes assoc. with IgA deficiency Cerebellar problems and spider angiomas |
| Common variable immunodeficiency |
Nl numbers of circulating B cells but decreased plasma cells and Ig Can be acquired in 20s or 30s |