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Step 1: Classic Pres
Step 1: Classic Presentations
| Question | Answer |
|---|---|
| Abdominal pain, ascites, hepatomegaly | Budd Chiari syndrome (posthepatic venous thrombosis) |
| Achilles tendon xanthoma | Familial hypercholesterolemia (Decrease LDL receptor signaling) |
| Adrenal hemorrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
| Athlete with polycythemia | Erythropoietin injection |
| Back pain, fever, night sweats, weight loss | Potts disease (vertebral TB) |
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfans syndrome |
| Bilateral hilar adenopathy, uveitis | Sarcoidosis (noncaseating granulomas) |
| Blue sclera | Osteogenesis imperfecta (collagen defect) |
| Bluish line on gingiva | Burton's line (LEAD poisoning) |
| Bone pain and enlargement, arthritis | Pagets disease (increase osteoblastic and osteoclastic activity) |
| Bounding pulses, head bobbing, diastolic heart murmur | Aortic regurgitation |
| Butterfly facial rash, Raynauds phenomenon, young female | Systemic lupus erythematosus |
| Cafe au lait spots, lisch nodules | Neurofibromatosis Type 1 (+pheochromocytoma, optic gliomas); Type 2 (+bilateral acoustic neuromas) |
| Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty | McCune Albright syndrome (mosaic G protein signaling mutation) |
| Calf pseudohypertrophy | Muscular dystrophy (most comm Duchenne): X linked recessive deletion of dystrophin gene |
| "Cherry red" spot on macula | Tay Sachs (ganglioside accumulation, def of Hexosaminidase A) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion |
| Chest pain on exertion | Angina (stable = w/mod exertion, unstable = w/minimal exertion) |
| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler's syndrome (autoimmune mediated post MI fibrinous pericarditis, 1-12 wks after acute episode) |
| Child uses arms to stand up from squat | Gower's sign (Duchenne muscular dystrophy) |
| Child w/fever develops red rash on face that spreads to body | "Slapped cheeks" (erythema infectiosum, 5th disease, parvovirus B19) |
| Chorea, dementia, caudate degeneration | Huntington's disease (aut dominant, CAG repeats) |
| Chronic exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinura | McArdle's disease (muscle glycogen phosphorylase deficiency) |
| Cold intolerance | Hypothyroidism |
| Conjugate lateral gaze palsy, horizontal diplopia | Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]) |
| Machinery heart murmur | PDA (close with indomethacin, open with misoprostol) |
| Cutaneous/dermal edema, due to connective tissue deposition | Myxedema (caused by hypothyroidism, Graves disease [periorbital]) |
| Dark purple skin/mouth nodules | Kaposi's sarcoma, usually AIDS pts, associated with HHV-8 |
| Deep labored breathing/hyperventilation | Kussmaul breathing (Diabetic Ketoacidosis) |
| Dermatitis, dementia, diarrhea | Pellagra (niacin [vitamin b3] deficiency) |
| Dilated cardiomyopathy, edema, polyneuropathy | Wet beriberi (thiamine [vitamin b1] deficiency) |
| Dog or cat bite resulting in infection | Pasteurella multocida (cellulitis @ infection site) |
| Dry mouth, Dry eyes, Arthritis | Sjogrens syndrome (autoimmune destruction of exocrine glands) |
| Dysphagia (esophageal webs), glossitis, iron def anemia | Plummer Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
| Elastic skin, hypermobility of joints | Ehlers-Danlos syndrome (type III collagen defect) |
| Enlarged hard left supraclavicular node | VIRCHOWS node (abdominal metastasis) |
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Sezary syndrome, cutaneous T cell lymphoma, or mycosis fungoides |
| Facial muscle spasm upon tapping | Chvostek's sign (hypocalcemia) |
| Fat, Female, Forty, Fertile | Bile duct blockage (acute cholelithiasis) |
| Fever, chills, headache, myalgia following Abx tx for syphilis | Jarisch-Herxheimer reaction (rapid lysis of spirochetes causes toxin release) |
| Fever, cough, conjunctivitis, diffuse rash, coryza | Measles (morbillivirus) |
| Fever, night sweats, weight loss | B symptoms (lymphoma) |
| Fibrous plaques in soft tissue of penis | Peyronnies disease |
| Gout, mental retardation, self-mutilating behavior in a boy | Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) |
| Green-yellow rings around peripheral cornea | Kayser-Fleischer rings (Wilson's disease, copper accumulation) |
| Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands | Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction, increase cancer risk) |
| Hepatosplenomegaly, osteoporosis, neurologic symptoms | Gaucher's disease (glucocerebrocidase deficiency) |
| Hereditary nephritis, sensorineural hearing loss, cataracts | Alport syndrome (mutation in alpha chain of collagen IV) |
| Hypercoagulability leading to migrating DVTs and vasculitis | Trousseau's sign (adenocarcinoma of pancreas or lungs) |
| Hyperphagia, hyperorality, hypersexuality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion) |
| Hyperreflexia, hypertonia, + Babinski sign | UMN damage |
| Hypertension, hypokalemia, metabolic alkalosis | Conn's syndrome (aldosterone producing adenoma) |
| Hyporeflexia, hypotonia, atropy | LMN damage |
| Hypoxemia, polycythemia, hypercapnia | "BLUE bloater" (chronic bronchitis, hyperplasia of mucous cells) |
| Indurated, ulcerated, genital lesion | Nonpainful: primary syphilis (Treponemia pallidum) Painful, w/exudate: chancroid (Haemophilus ducreyi) |
| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration | Niemann Pick disease (genetic sphingomyelinase deficiency) |
| Infant with hypoglycemia, failure to thrive, hepatomegaly | Cori's disease (debranching enzyme deficiency) |
| Infant w/microcephaly, rocker bottom feet, clenched hands, structural heart defect | Edwards syndrome (trisomy 18) |
| Keratin pearls on a skin biopsy | Squamous cell carcinoma |
| Large rash w/ bulls eye appearance | Erythema chronicum migrans, from Ixodes tick bite (Lyme disease) |
| Lucid interval after traumatic brain injury | Epidural hematoma (middle meningeal artery rupture) |
| Male child, recurrent infections, no mature B cells | Bruton's disease (x-linked agammaglobulinemia) |
| Mucosal bleeding, prolonged bleeding time | Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) |
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth | Gardner's syndrome (subtype of FAP) |
| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance | Pompe's disease (lysosomal a-1,4-glucocidase deficiency |
| Necrotizing vasculitis (lungs), necrotizing glomerulonephritis | Wegener's (c-ANCA +) and Goodpasture (anti-GBM) |
| Neonate w/arm paralysis following difficult birth | Erb-Duchenne palsy, superior trunk (C5-6), brachial plexus injury, "waiters tip" |
| No lactation postpartum, absent menstruation, cold intolerance | Sheehan's syndrome (pituitary infarction) |
| Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia | Multiple Sclerosis |
| Oscillating slow/fast breathing | Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure) |
| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis) |
| Painful raised red lesions on palms and soles | Oslers nodes - infective endocarditis |
| Painless erythematous lesions on palms and soles | Janeway lesions - infective endocarditis |
| Painful cold fingers/toes | Raynauds syndrome |
| Painless jaundice | Cancer of the pancreatic head obstructing bile duct |
| Palpable purpura on buttocks/legs, joint pain, abd pain (child) | Henoch-Schonlein Purpura (IgA vasculitis affecting skin and kidneys) |
| Pancreatic, pituitary, parathyroid tumors | MEN 1 (aut dom) |
| Pink complexion, hyperventilation, dyspnea | Pink puffer - emphysema (centroacinar = smoking; panacinar = a1-antitrypsin deficiency) |
| Polyuria, acidosis, growth failure, electrolyte imbalances | Faconi's syndrome (PT reabsorption defect) |
| Positive anterior "drawer sign" | ACL injury |
| Ptosis, miosis, anhidrosis | Horner's syndrome (sympathetic chain lesions) |
| Pupil accommodates, but doesn't react | Argyll Robertson pupil (neurosyphilis) |
| Rapidly progressive leg weakness that ascends (following GI/URI) | Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
| Rash on palms and soles | Coxsackie A, secondary syphilis, RMSF |
| Recurrent colds, unusual eczema, high serum IgE | Hyper-IgE syndrome |
| Recurrent "currant jelly" sputum in alcoholic or diabetic pts | Klebsiella pneumoniae |
| Red itchy swollen rash of nipple | Pagets disease of the breast (represents underlying neoplasm) |
| Red urine in the morning, fragile RBCs | Paroxysmal nocturnal hemoglobinuria |
| Renal cell carcinoma, bilateral, hemangioblastomas, angiomatosis, phenochromocytoma | VHL |
| Resting tremor, rigidity, akinesia, postural instability | Parkinson's disease |
| Retinal hemorrhages with pale centers | Roth spots - bacterial endocarditis |
| Severe jaundice in neonate | Crigler-Najjar (unconjugated hyperbilirubinemia) |
| Severe RLQ pain w/rebound tenderness | McBurney's sign (appendicitis) |
| Short stature, increase incidence of tumors, leukemia, aplastic anemia | Faconi's anemia (genetic loss of DNA crosslink repair, often progresses to AML) |
| Single palm crease | Simian crease - Down syndrome |
| Situs inversus, chronic sinusitis, bronchiectasis, infertility | Kartagener's syndrome (dynein arm defect affecting cilia) |
| Skin hyperpigmentation | Addison's disease (primary adrenocortical insufficiency causes increase ACTH and alpha-MSH production) |
| Slow progressive muscle weakness in boys | Beckers muscular dystrophy (X linked missense mutation in dystrophin, less severe than Duchenne) |
| Small, irregular red spots on buccal/lingual mucosa, with blue-white centers | Koplick spots - measles - rubeola virus |
| Smooth, flat, moist, white lesions on genitals | Condylomata lata (2ndary syphilis) |
| Splinter hemorrhages in fingernails | Bacterial endocarditis |
| Strawberry tongue | Scarlet fever, Kawasaki disease, TSS |
| Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma @ birth | Turner syndrom, 45XO (short stature, webbed neck, lymphedema) |
| Sudden swollen big painful toe joint | Gout/podagra (hyperuricemia) |
| Swollen gums, mucous bleeding, poor wound healing, spots on skin | Scurvy (Vit C deficiency) --- can't hydroxylate proline/lysine for collagen synthesis |
| Swollen hard, painful, finger joints | Osteoarthritis - Bouchard nodes: PIP Heberden's nodes: DIP |
| Systolic ejection murmur | Aortic valve stenosis |
| Toe extension/fanning upon plantar scrape | Babinski sign (UMN lesion) |
| Thyroid and parathyroid tumors, pheochromocytoma | MEN 2A (aut dom ret mutation) |
| Thyroid tumors, pheochromocytoma, ganglioneuromatosis | MEN 2B (aut dom ret mutation) |
| Unilateral facial dropping involving forehead | Bells palsy (LMN CN VII palsy) |
| Urethritis, conjunctivitis, arthritis in a male | Reactive arthritis associated with HLA-B27 |
| Vascular birthmark (port wine stain) | Hemangioma (benign, but associated with sturge-weber syndrome) |
| Vomiting blood following esophagogastric lacerations | Mallory-Weiss syndrome |
| "Waxy" casts with very low urine flow | Chronic end stage-renal disease |
| WBC casts in urine | Acute pyelonephritis |
| Weight loss, diarrhea, arthritis, fever, adenopathy | Whipple's disease (Tropheryma whippelii) |
| "Worst HA of my life" | Subarachnoid hemorrhage |
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