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Rapid Review
Classic Presentations
| Question | Answer |
|---|---|
| Abdominal pain, ascites, hepatomegaly | Budd Chiari Syndrome (posthepatic venous thrombosis) |
| Achilles tendon xanthoma | Familial Hypercholesterolemia IIa (↓LDL receptor signaling) |
| Adrenal hemorrhage, HyPOtention, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfan's Syndrome (Fibrillin Defect) |
| Athlete with Polycythemia | 2˚ to erythropoietin injection |
| Back pain, fever, night sweats, weight loss | Pott's disease (Vertebral tuberculosis) |
| Bilateral hilar adenopathy, uveitis | Sarcoidosis (noncaseating granulomas) |
| Blue Sclera | Osteogenesis Imperfecta (type I collagen defect) |
| Bluish line on gingiva | Burton's Line (Lead Poisoning) |
| Bone pain, bone enlargement, arthritis | Paget's disease of bone (↑ osteoblastic and osteoclastic activity) |
| Bounding pulses, diastolic heart murmur, head bobbing | Aortic Regurgitation |
| "Butterfly" facial rash, Raynaud's phenomenon(vasospasm in extremities, painful pale cold fingers/toes)in a young female | Systemic Lupus Erythematous |
| Cafe au lait spots, Lisch nodules(iris hamartoma) | Neurofibromatosis I (+pheochromocytoma, optic gliomas) |
| Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities | McCune Albright Syndrome (mosaic G-protein signaling mutation) |
| Calf Psuedohypertrophy | Muscular dystrophy (MC: Duchenne's):X-Linked recessive deletion of Dystrophin Gene |
| "Cherry Red Spot" on Macula | Tay Sach's (Ganglioside accumulation) or Niemann-Pick (Sphingomyelin accumulation), Central Retinal Artery Occlusion |
| Chest pain on exertion | Angina (Stable:w/moderate 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 weeks after acute episode) |
| Child uses arms to stand up from squat | Gower's sign (Duchenne Muscular Dystrophy) |
| Child with fever later develops red rash on face that spreads to body | "Slapped cheeks" (Erythema Infectiosum/5th Disease/Parvovirus B19) |
| Chorea, dementia, Caudate degeneration | Huntington's Disease (AD, CAG repeat expansion) |
| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria | McArdle's Disease (muscle glycogen phosphorylase deficiency) |
| Cold Intolerance | Hypothyroidism |
| Conjugate Lateral Gaze palsy, horizontal diplopia | Internuclear opthalmoplegia (damage to MLF; bilateral [Multiple Sclerosis], unilateral: [Stroke] |
| Continuous "Machinery" heart murmur | PDA (close w/Indomethacin, open or maintain w/Misoprostol) |
| Cutaneous/Dermal Edema due to connective tissue deposition | Myxedema (caused by HyPOthryroidism, Grave's disease[Pretibial]) |
| Dark purple skin/mouth nodules | Kaposi's sarcoma (usually AIDS patients [MSM], assoc w/HHV8) |
| Deep labored breathing/hyperventilation | Kussmaul breathing (Diabetic Ketoacidosis) |
| Dermatitis, Dementia, Diarrhea | Pellagra (Niacin B3 deficiency) |
| Dilated Cardiomyopathy, edema, alcoholism, or malnutrition | Wet beriberi (Thiamine B1 deficiency) |
| Dog or Cat bite resulting in infection | Pasteurella multocida (cellulitis at innoculation site) |
| Dry eyes, dry mouth, arthritis | Sjogren's Syndrome (autoimmune destruction of exocrine glands) |
| Dysphagia (esophogeal webs), glossitis, iron deficiency anemia | Plummer Vinson Syndrome (may progress to esophogeal squamous cell carcinoma) |
| Elastic skin, hypermobility of joints | Ehlers-Danlos syndrome (Type III collagen defect) |
| Enlarged, hard Left supraclavicular node | Virchow's 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, fertile, 40 | Cholelithiasis (Gallstones) |
| Fever, chills, headache, myalgia, following antibiotic treatment for syphilis | Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) |
| Fever, cough, conjunctivitis, coryza, diffuse rash | Measles (Morbillivirus) |
| Fever, night sweats, weight loss | B Symptoms (staging) of Lymphoma |
| Fibrous plaques in soft tissue of penis | Peyronie's disease (Connective tissue disorder) |
| 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 (Copper accumulation from Wilson's Disease) |
| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands | Peutz Jehgers syndrome (inherited, benign polyposis can cause bowel obstruction; ↑cancer risk, mainly GI) |
| Hepatosplenomegaly, osteoporosis, neurologic symptoms | Gaucher's Disease (Glucocerebrosidase deficiency) |
| Hereditary nephritis, sensorinueral hearing loss, cataracts | Alport Syndrome (mutation of α chain of collagen IV) |
| HyperPhagia, hyperSexuality hyperOrality, HyperDocility | Kluver-Bucy Syndrome(Bilateral Amygdala lesion) |
| HyPER-Reflexia, HyPERtonia, Babinski sign+ | UMN damage |
| HyPO-Reflexia, HyPOtonia, atrophy, fasiculations | LMN damage |
| HyPOxemia, Polycythemia, Hypercapnia | "Blue Bloater" (Chronic Bronchitis: hyperplasia of mucous cells/↑Reid Index) |
| Indurated , ulcerated genital lesion | Nonpainful Chancre:(1˚Syphillis/Treponema pallidum), Painful with exudate-Chancroid:(Haemophylus ducreyi) |
| Infant w/ Cleft Lip/Palate, Microcephaly or Holoprosencephaly, Polydactyly, Cutis Aplasia | Patau's Syndrome (Trisomy 13) |
| Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration | Niemann-Pick diease (genetic sphingomyelinase deficiency) |
| Infant w/ HyPOglycemia, failure to thrive, and hepatomegaly | Cori's disease (debranching enzyme deficiency) |
| Infant w/ microcephaly, Rocker bottom feet, Clenched hands, and structural heart defect | Edward's Syndrome (Trisomy 18) |
| Jaundice, Palpable distended non-tender gallbladder | Courvoisier's sign (Distal obstruction of biliary tree) |
| Large rash w/ Bull's Eye appearance | Erythema Chronicum Migrans from Ixodes tick bite (Lyme disease: Borrelia) |
| 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 and prolonged bleeding time | Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) |
| Muffled heart sounds, distended neck veins, hypotension | Beck's Triad of Cardiac Tamponade |
| 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 α-1,4 glucosidase deficiency) |
| 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 ↑ intracranial pressure) |
| Painful blue fingers/toes, hemolytic anemia | Cold Agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma Pneumonia, infectious mononucleosis) |
| Painful pale cold fingers/toes | Raynaud's Phenomenon (vasospasm in extremities) |
| Painful raised red lesions on pad of fingers/toes | Osler's node (Infective endocarditis, immune complex deposition) |
| Painless erythematous lesions on palms/soles | Janeway lesions (Infective endocarditis, septic emboli/microabscesses) |
| Painless Jaundice | Cancer of the Pancreatic Head obstructing Bile Duct |
| Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria | Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
| Pancreatic, Pituitary, Parathyroid tumors | MEN I (AD) |
| Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia | Nephrotic Syndrome |
| Pink complexion, Dyspnea, HyPERventilation | "Pink Puffer" (Emphysema: Centriacinar[smoking], Panacinar[α1-antitrypsin deficiency] |
| Polyuria, renal tubular acidosis II, growth failure, electrolyte imbalances, hyPOphosphatemic rickets | Fanconi's Syndrome (Proximal tubular reabsorption defect) |
| + Anterior drawer sign | Anterior Cruciate Ligament injury |
| Pruritic, purple, polygonal planar papules and plaques (6 p's) | Lichen Planus |
| Ptosis, Miosis, Anhidrosis | Horner's Syndrome (sympathetic chain lesion) |
| Pupil accomodates but doesn't react | Argyll Robertson pupil (Neurosyphilis) |
| Rapidly progressive leg weakness that ascends following GI/ Upper respiratory infection | Guillan Barre syndrome(acute autoimmune inflammatory demyelinating polyneuropathy) |
| Rash on palms and soles | Cocksackie A, 2˚ Syphilis, Rocky Mountain Spotted Fever |
| Recurrent colds, unusual eczema, high serum IgE | Hyper IgE syndrome(Job's syndrome: neutrophil chemotaxis abnormality) |
| Red Currant Jelly sputum in alcoholic or diabetic patients | Klebsiella pneumoniae |
| Red "Currant Jelly" stools | Acute mesenteric ischemia(adults), intussusception(infants) |
| Red itchy swollen rash of nipple/areola | Paget's disease of breast (represents underlying neoplasm) |
| Red urine in morning, fragile RBC's | Paroxysmal nocturnal hemoglobinuria |
| Renal cell carcinoma(bilateral), hemangioblastomas, angiomatosis, pheochromocytoma | von Hippel Lindau disease (dominant tumor suppressor gene mutation) |
| Resting tremor, rigidity, akinesia, postural instability | Parkinson's disease (nigrostriatal dopamine depletion) |
| Retinal hemorrhages with pale centers | Roth spots (Bacterial Endocarditis) |
| Severe jaundice in neonate | Criglar Najjar syndrome (congenital UNconjugated hyPERbilirubinemia) |
| Severe RLQ pain with palpation of LLQ | Rosving's sign (Acute Appendicitis) |
| Severe RLQ pain with rebound tenderness | McBurney's sign (Appendicitis) |
| Short stature,↑Incidence of tumors/leukemia, aplastic anemia | Fanconi's anemia (genetic loss of DNA crosslink repair; often progress to AML) |
| Single palmar crease | Simean crease (Down syndrome) |
| Situs inversus, chronic sinusitis, bronchiectasis, infertility | Kartagener's syndrome (dynein arm defect affecting cilia) |
| Skin hyPERpigmentation, HyPOtension, fatigue | Addison's disease (1˚ adrenocortical insufficiency causes ↑ACTH AND ↑ α-MSH production) |
| Slow progressive muscle weakness in Boys | Becker's Muscular Dystrophy (X-linked missense mutation in dystrophin; less sever than Duchenne's) |
| Small irregular red spots on buccal/lingual mucosa with blue-white centers | Koplik Spots (measles, rubeola virus) |
| Smooth, flat, moist painless white lesions on genitals | Condylomata lata (2˚ Syphilis) |
| Splinter hemorrhages in fingernails | Bacterial endocarditis |
| Strawberry tongue | Scarlett Fever, Kawasaki's Disease, Toxic Shock Syndrome |
| Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema | Turner Syndrome (45, XO) |
| Sudden swollen/painful big toe joint, tophi | Gout/Podagra (Hyperuricemia) |
| Swollen gums, mucosal 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 (Osteophytes on PIP[Bouchard nodes], DIP[Heberden nodes] |
| Systolic ejection murmur (Crescendo Decrescendo) | Aortic Valve Stenosis |
| Thyroid and Parathyroid tumors, Pheochromocytoma | MEN 2A (AD ret mutation) |
| Thyroid, Pheochromocytoma, ganglioneuromatosis | MEN 2B (AD ret mutation) |
| Toe extension/fanning upon plantar scrape | Babinski sign (UMN lesion) |
| Unilateral facial drooping involving forehead | Facial Nerve (LMN CN VII palsy) |
| Urethritis, conjunctivitis, arthritis in a Male | Reactive Arthritis assoc w/ HLA-B27 |
| Vascular birthmark (Port Wine stain) | Hemangioma (Benign, but assoc w/ Sturge Weber syndrome) |
| Vomiting blood following gastroesophageal lacerations | Mallory Weiss syndrome (alcoholic and bulemic patients) |
| "Worst headache of my life" | Subarachnoid hemorrhage |
Created by:
sdona2
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