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FA10 CP
FA 2010 Classic Presentations
| Question | Answer |
|---|---|
| Abdominal pain, ascites, hepatosplenomegaly | Budd-Chiari Syndrome (posthepatic venous thrombosis) |
| Achilles tendon xanthoma | Familial hypercholesterolemia |
| Adrenal hemorrhage, hypotension, DIC | Waterhouse-Friderichsen Syndrome (meningococcemia) |
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfan's Syndrome (fibrillin defect) |
| Back Pain, fever, night sweats, weight loss | Pott's Disease (vertebral tuberculosis) |
| Big toe extension/fanning upon plantar scrape | Babinski's Sign (UMN lesion) |
| Bilateral hilar adenopathy, uveitis | Sarcoidosis (noncaseating granulomas) |
| Blue sclera | Osteogenesis Imperfecta (collagen defect) |
| Bluish line on gingiva | Burton's line (lead poisoning) |
| Bone pain, bone enlargement, arthritis | Paget's Disease of bone (increased osteoblast and osteoclast activity) |
| Café-au-lait spots, Lisch nodules (iris hamartoma) | Neurofibromatosis type I |
| Café-au-lait spots, Lisch nodules (iris hamartoma), + bilateral acoustic neuromas | Neurofibromatosis type II |
| Calf pseudohypertrophy | Duchene's Muscular Dystrophy |
| "Cherry-red spot" on macula | Tay-Sachs (ganglioside accumulation), Niemann-Pick (lysosomal storage disease) |
| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler's Syndrome (autoimmune-mediated post-MI fibrinous pericarditis) |
| Child with fever develops red rash on face that spreads to body | "Slapped Cheeks" (erythema infectiosum/fifth disease: parvovirus B19) |
| Chorea, dementia, caudate degeneration | Huntington's disease (autosomal-dominant CAG repeat expansion) |
| Chronic exercise intolerance with myalgia, fatigue, painful cramps | McArdle's disease (muscle phosphorylase deficiency) |
| Cold intolerance | Hypothyroidism |
| Continuous "machinery" murmur | PDA (close with indomethacin; open with misoprostol) |
| Cutaneous/dermal edema due to connective tissue deposition | Myxedema (hypothyroidism, Graves' Disease) |
| Dark purple skin/ mouth nodules | Kaposi's Sarcoma (usually in AIDS patients [gay men]: associated with HHV-8) |
| Deep labored breathing/hyperventilation | Kussmaul breathing (DKA) |
| 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 |
| Dry eyes, dry mouth, arthritis | Sjogren's syndrome (autoimmune destruction of exocrine glands) |
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia | Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma) |
| Elastic skin, hypermobility of joints | Ehlers-Danlos syndrome (collagen defect) |
| Enlarged, hard left supraclavicular node | Virchow's node (abdominal metastasis) |
| Facial muscle spasm upon tapping | Chvostek's sign (hypocalcemia) |
| Fat, female, forty, and fertile | Acute cholecystitis (bile duct blockage) |
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis | Jarisch-Herxhimer reaction (rapid lysis of spirochetes results in toxin release) |
| Fever, cough, conjunctivitis, coryza, diffuse rash | Measles (Morbillivirus) |
| Fever, night sweats, weight loss | B symptoms (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) |
| Green-yellow rings around peripheral cornea | Kayser-Fleischer rings (copper accumulation from Wilson's disease) |
| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands | Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk) |
| Hepatosplenomegaly, osteoporosis, neurologic symptoms | Gaucher's Disease (glucocerebrosidase deficiency) |
| Hereditary nephritis, sensorineural hearing loss, cataracts | Alport's syndrome (collagen mutation) |
| Hyperphagia, hypersexuality, hyperorality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion) |
| Hypertension, hypokalemia, metabolic acidosis | Conn's syndrome (primary hyperaldosteronism) |
| Hypoxemia, polycythemia, hypercapnia | "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells) |
| Indurated, ulcerated genital lesion (nonpainful) | Chancre (primary syphilis: Treponema pallidum) |
| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration | Neimann-Pick disease (genetic sphingomyelinase deficiency) |
| Infant with hypoglycemia, failure to thrive, hepatomegaly | Cori's Disease (debranching enzyme deficiency) |
| Infant with microcephaly, rocker-bottom feet, structural heart defect | Edward's Syndrome (trisomy 18) |
| Jaundice, RUQ pain, fever | Charcot's triad (ascending cholangitis) |
| Keratin pearls on a skin lesion | Squamous cell carcinoma |
| Large rash with bull's-eye appearance | Erythema chronicum migrans from tick bite (Lyme disease: Borrelia) |
| 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) |
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumary teeth | Gardner's Syndrome (genetic disorder, predisposes to colon cancer) |
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis. | Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease) |
| Neonate with arm paralysis following difficult birth | Erb-Duchenne Palsy (superior trunk [C5-6] brachial plexus injury: "waiter's tip") |
| No lactation postpartum, absent menstruation, cold intolerance | Sheehan's syndrome (pituitary infarction) |
| Nystagmus, intention tremor, scanning speech | Charcot's triad (MS) |
| Oscillating slow/fast breathing | Cheyne-Stokes respirations (central apnea in CHF or increased ICP) |
| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (IgM) (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae or infectious mononucleosis) |
| Painful, pale, cold fingers/toes | Raynaud's syndrome (vasospasm in extremity) |
| Painful, raised red lesions on palms and soles | Osler's nodes (infective endocarditis) |
| Painless jaundice | Cancer of the pancreatic head obstructing bile duct |
| Palpable purpura, joint pain, abdominal pain (child) | Henoch-Schlonlein purpura (IgA vasculitis affecting skin and kidneys) |
| Pancreatic, pituitary, parathyroid tumors | Wermer's Syndrome (MEN 1) |
| Pink complexion, dyspnea, hyperventilation | "Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency]) |
| Polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature in a young girl | McCune-Albright syndrome (mosaic G-protein signaling mutation) |
| Polyuria, acidosis, growth failure, electrolyte imbalances | Fanconi's Syndrome (proximal tubular reabsorption defect) |
| Ptosis, miosis, anhidrosis | Horner's Syndrome (sympathetic chain lesion) |
| Pupil accommodates but doesn't react | Argyll Robertson Pupil (neurosyphilis) |
| Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection) | Guillain-Barre Syndrome (autoimmune acute inflammatory demyelinating polynephropathy) |
| Rash on palms and soles | Secondary syphilis, Rocky Mountain Spotted Fever |
| Recurrent colds, unusual eczema, high serum IgE | Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality) |
| "Red currant jelly" sputum | Klebsiella pneumoniae |
| Red, itchy, swollen rash of nipple/areola | Paget's Disease of Breast (indictating underlying neoplasm) |
| Red urine in the morning | Paroxysmal noctural hemoglobinuria |
| Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma | von Hippel-Lindau disease (dominant tumor suppressor gene mutation) |
| Resting tremor, rigidity, akinesia, postural instability | Parkinson's disease (nigrostriatal dopamine depletion) |
| Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance | Pompe's Disease (lysosomal glucosidase deficiency) |
| Retinal hemorrhages with pale centers | Roth's spots (bacterial endocarditis) |
| Severe RLQ pain with rebound tenderness | McBurney's sign (appendicitis) |
| Short stature, increased incidence of tumors/leukemia, aplastic anemia | Fanconi's anemia (genetically inherited; often progresses to AML) |
| Single palm crease | Simian crease (Down syndrome) |
| Situs inversus, chronic sinusitis, bronchiectasis, infertility | Kartagener's syndrome (dynein defect affecting cilia) |
| Skin hyperpigmentation | Addison's Disease (primary adrenocortical insufficiency of autoimmune or infectious etiology) |
| Slow, progressive muscle weakness in boys | Becker's Muscular Dystrophy (X-linked, defective dystrophin; less severe than Duchenne's) |
| Small, irregular red spots on buccal/lingual mucosa with blue-white centers | Koplik spots (measles) |
| Small, nontender, erythematous lesions on palms/soles | Janeway lesions (infective endocarditis) |
| Smooth, flat, moist white lesions on genitals | Condylomata lata (secondary syphilis) |
| Splinter hemorrhages in fingernails | Bacterial endocarditis |
| "Strawberry tongue" | Scarlet Fever, Kawasaki disease, toxic shock syndrome |
| Streak ovaries, congenital heart disease, horseshoe kidney | Turner's Syndrome (XO, short stature, webbed neck, lymphedema) |
| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperurecimia) |
| Systolic ejection murmur (crescendo-decrescendo) | Aortic valve stenosis |
| Swollen gums, mucous bleeding, poor wound healing, spots on skin | Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis) |
| Swollen, hard, painful finger joints | Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes]) |
| Thyroid, parathyroid, adrenal tumors | Sipple's Syndrome (MEN 2A) |
| Ulcerated genital lesion with exudate (painful) | Chancroid (Haemophilus ducreyi) |
| Unilateral facial drooping | Bell's palsy (LMN CNVII palsy) |
| Urethritis, conjunctivitis, arthritis in a male | Reiter's Syndrome (reactive arthritis associated with HLA-B27) |
| Vascular Birthmark (port-wine stain) | Hemangioma (benign, but associated with Sturge-Weber syndrome) |
| Vasculitis from exposure to endotoxin causing glomerular thrombosis | Shwartzman reaction (following second exposure to endotoxin) |
| Vomiting blood following esophagogastric lacerations | Mallory-Weiss Syndrome (alcoholics and eating disorders) |
| "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 headache of my life" | Berry aneurysm (associated with polycystic kidney disease) |
| Child uses arms to stand up from squat | Gower's sign (Duchenne muscular dystrophy: X-linked recesssive deleted dystrophin gene) |
| Conjugate lateral gaze palsy, horizontal diplopia | Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]) |
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides |
| Lucid interval after traumatic brain injury | Epidural hematoma |
| Positive anterior "drawer sign" | ACL injury |
| Severe jaundice in neonate | Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) |
Created by:
megankirch
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