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115 Cards in this Set
- Front
- Back
Clinical Presentation:
Abdominal pain, ascites, hepatomegaly |
Diagnosis/Disease:
Budd-Chaiari syndrome (posthepatic venous thrombosis) |
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Clinical Presentation:
Achilles tendon xanthoma |
Diagnosis/Disease:
Familial hypercholesterolemia (decrease LDL receptor signaling) |
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Clinical Presentation:
Adrenal hemorrhage, hypotension, DIC |
Diagnosis/Disease:
Waterhouse-Friderichsen syndrome (meningococcemia) |
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Clinical Presentation:
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints |
Diagnosis/Disease:
Marfan's syndrome (fibrillin defect) |
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Clinical Presentation:
Athlete wiht polycythemia |
Diagnosis/Disease:
Erythropoietin injection |
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Clinical Presentation:
Back pain, fever, night sweats, weight loss |
Diagnosis/Disease:
Pott's disease (vertebral tuberculosis) |
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Clinical Presentation:
Bilateral hilar adenopathy, uveitis |
Diagnosis/Disease:
Sarcoidosis (noncaseating granulomas) |
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Clinical Presentation:
Blue sclera |
Diagnosis/Disease:
Osteogenesis imperfecta (collagen defect) |
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Clinical Presentation:
Bluish line on gingiva |
Diagnosis/Disease:
Burton's line (lead poisoning) |
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Clinical Presentation:
Bone pain, bone enlargement, arthritis |
Diagnosis/Disease:
Paget's disease of bone (increase osteoblastic and osteoclastic activity) |
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Clinical Presentation:
Bounding pulses, diastolic heart murmur, head bobbing |
Diagnosis/Disease:
Aortic regurgitation |
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Clinical Presentation:
"Butterfly" facial rash and Raynaud's phenomenon in a young female |
Diagnosis/Disease:
Systemic lupus erythematosus (SLE) |
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Clinical Presentation:
Cafe-au-lait spots, Lisch nodules (iris hamartoma) |
Diagnosis/Disease:
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas) Neurofibromatosis type II (+ bilateral acoustic neuromas) |
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Clinical Presentation:
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty |
Diagnosis/Disease:
McCune-Albright syndrome (mosaic G-protein signaling mutation) |
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Clinical Presentation:
Cal pseudohypertrophy (fat and connective tissue in calf) |
Diagnosis/Disease:
Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene |
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Clinical Presentation:
"Cherry-red spot" on macula |
Diagnosis/Disease:
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
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Clinical Presentation:
Chest pain on exertion |
Diagnosis/Disease:
Angina (stable; moderate exertion; unstable: minimal exertion) |
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Clinical Presentation:
Chest pain, pericardial effusion/friction rub, persistent fever following MI |
Diagnosis/Disease:
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode) |
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Clinical Presentation:
Child uses arms to stand up from squat |
Diagnosis/Disease:
Gower's sign (Duchenne muscular dystrophy) |
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Clinical Presentation:
Child with fever develops red rash on face that spreads to body |
Diagnosis/Disease:
"slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19) |
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Clinical Presentation:
Chorea, dementia, caudate degeneration |
Diagnosis/Disease:
Huntington's disease (autosomal-dominant CAG repeat expansion) |
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Clinical Presentation:
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria |
Diagnosis/Disease:
McArdle's disease (muscle glycogen phosphorylase deficiency |
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Clinical Presentation:
Cold intolerance |
Diagnosis/Disease:
Hypothyroidism |
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Clinical Presentation:
Conjugate lateral gase palsy, horizontal diplopia |
Diagnosis/Disease:
Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis],unilateral [stroke]) |
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Clinical Presentation:
Continuous "machinery" heart murmur |
Diagnosis/Disease:
PDA (close with indomethacin; open wiht misoprostol) |
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Clinical Presentation:
Cutaneous/dermal edema due to connective tissue deposition |
Diagnosis/Disease:
Myxedema (caused by hypothyroidism, Graves' disease [periorbital]) |
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Clinical Presentation:
Dark purple skin/mouth nodules |
Diagnosis/Disease:
Kaposi's Sarcoma (usually AIDS patients [gay dudes]: associated with HHV-8) |
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Clinical Presentation:
Deep, labored breathing/hyperventilation |
Diagnosis/Disease:
Kussmaul breathing (diabetic ketoacidosis) |
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Clinical Presentation:
Dermatitis, dementia, diarrhea |
Diagnosis/Disease:
Pellagra (niacin [vitamin B3] deficiency) |
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Clinical Presentation:
Dilated cardiomyopathy, edema, polyneuropathy |
Diagnosis/Disease:
Wet beriberi (thiamine [vitamin B1] deficiency) |
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Clinical Presentation:
Dog or cat bite resulting in infection |
Diagnosis/Disease:
Pasteurella multocida (cellulitis at inoculation site) |
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Clinical Presentation:
Dysphagia (esophageal webs), glossitis, iron deficiency anemia |
Diagnosis/Disease:
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
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Clinical Presentation:
Elastic skin, hypermobility of joints |
Diagnosis/Disease:
Ehlers-Danlos syndrome (type III collagen defect) |
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Clinical Presentation:
Enlarged, hard left supraclavicular node |
Diagnosis/Disease:
Virchow's node (abdominal metastasis) |
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Clinical Presentation:
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
Diagnosis/Disease:
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides |
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Clinical Presentation:
facial muscle spasm upon tapping |
Diagnosis/Disease:
Chvostek's sign (hypocalcemia) |
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Clinical Presentation:
Fat, femal, forty, and fertile |
Diagnosis/Disease:
Acute cholelithiasis (bile duct blockage) |
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Clinical Presentation:
Fever, chills, headache, myalgia following antibiotic treatment for syphilis |
Diagnosis/Disease:
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) |
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Clinical Presentation:
Fever, cough, conjunctivitis, coryza, diffuse rash |
Diagnosis/Disease:
Measles (Morbillivirus) |
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Clinical Presentation:
Fever, night sweats, weight loss |
Diagnosis/Disease:
B symptoms (lymphoma) |
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Clinical Presentation:
Fibrous plaques in soft tissue of penis |
Diagnosis/Disease:
Peyronie's disease (connective tissue disorder) |
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Clinical Presentation:
Gout, mental retardation, self-mutilating behavior in a boy |
Diagnosis/Disease:
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) |
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Clinical Presentation:
Green-yellow rings around peripheral cornea |
Diagnosis/Disease:
Kayser-Fleischer rings (copper accumulation from Wilson's disease) |
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Clinical Presentation:
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands |
Diagnosis/Disease:
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk) |
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Clinical Presentation:
Hepatosplenomegaly, osteoporosis, neurologic symptoms |
Diagnosis/Disease:
Gaucher's disease (glucocerebrosidase deficiency) |
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Clinical Presentation:
Hereditary nephritis, sensorineural hearing loss, cataracts |
Diagnosis/Disease:
Alport syndrome (mutation in alpha chain of collagen IV) "can't see, can't pee, can't hear" |
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Clinical Presentation:
Hypercoagulability (leading to migrating DVTs and vasculitis) |
Diagnosis/Disease:
Trousseau's sign (adenocarcinoma of pancreas or lung) |
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Clinical Presentation:
Hyperphagia, hypersexuality, hyperorality, hyperdocility |
Diagnosis/Disease:
Kluver-Bucy syndrome (bilateral amygdala lesion) |
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Clinical Presentation:
Hyperreflexia, hypertonia, positive Babinski sign |
Diagnosis/Disease:
UMN damage |
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Clinical Presentation:
Hypertension, hypokalemia, metabolic alkalosis |
Diagnosis/Disease:
Conn's syndrome |
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Clinical Presentation:
Hyporeflexia, hypotonia, atrophy |
Diagnosis/Disease:
LMN damage |
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Clinical Presentation:
Hypoxemia, polycythemia, hypercapnia |
Diagnosis/Disease:
"Blue bloater" (chronic bronchitis; hyperplasia of mucous cells) |
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Clinical Presentation:
Indurated, ulcerated genital lesion |
Diagnosis/Disease:
Nonpainful: chancre (primary syphilis, Treponema pallidum) Painful with exudate: chancroid (Haemophilus ducreyi) |
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Clinical Presentation:
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration |
Diagnosis/Disease:
Niemann-Pick disease (genetic sphingomyelinase deficiency) |
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Clinical Presentation:
Infant with hypoglycemia, failure to thrive, and hepatomegaly |
Diagnosis/Disease:
Cori's disease (debranching enzyme deficiency) |
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Clinical Presentation:
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect |
Diagnosis/Disease:
Edwards' syndrome (trisomy 18) |
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Clinical Presentation:
Keratin pearls on a skin biopsy |
Diagnosis/Disease:
squamous cell carcinoma |
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Clinical Presentation:
Large rash with bull's-eye appearance |
Diagnosis/Disease:
Erythema chronicum migrans from Ixodes tick bite (lyme disease: Borrelia) |
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Clinical Presentation:
Lucid interval after traumatic brain injury |
Diagnosis/Disease:
Epidural hematoma (middle meningeal artery rupture) |
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Clinical Presentation:
Male child, recurrent infections, no mature B cells |
Diagnosis/Disease:
Burton's disease (X-linked agammaglobulinemia) |
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Clinical Presentation:
Mucosal bleeding and prolonged bleeding time |
Diagnosis/Disease:
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) |
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Clinical Presentation:
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth |
Diagnosis/Disease:
Gardner's syndrome (subtype of FAP) |
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Clinical Presentation:
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance |
Diagnosis/Disease:
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency) |
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Clinical Presentation:
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis |
Diagnosis/Disease:
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies) |
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Clinical Presentation:
Neonate with arm paralysis following difficult birth |
Diagnosis/Disease:
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury; "waiter's tip") |
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Clinical Presentation:
No lactation postpartum, absent menstruation, cold intolerance |
Diagnosis/Disease:
Sheehan's syndrome (pituitary infarction) |
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Clinical Presentation:
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia |
Diagnosis/Disease:
Multiple sclerosis |
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Clinical Presentation:
Oscillating slow/fast breathing |
Diagnosis/Disease:
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure) |
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Clinical Presentation:
Painful, pale, cold fingers/toes |
Diagnosis/Disease:
Raynaud's syndrome (vasospasm in extremities) |
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Clinical Presentation:
Painful, raised red lesions on palms and soles |
Diagnosis/Disease:
Osler's node (infective endocarditis) |
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Clinical Presentation:
Painless erythematous lesions on palms and soles |
Diagnosis/Disease:
Janeway lesions (infective endocarditis) |
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Clinical Presentation:
Panless jaundice |
Diagnosis/Disease:
Cancer of the pancreatic head obstructing bile duct |
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Clinical Presentation:
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child) |
Diagnosis/Disease:
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
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Clinical Presentation:
Pancreatic, pituitary, parathyroid tumors |
Diagnosis/Disease:
MEN 1 (autosomal dominant) |
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Clinical Presentation:
Pink complexion, dyspnea, hyperventilation |
Diagnosis/Disease:
"Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency) |
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Clinical Presentation:
Polyuria, acidosis, growth failure, electrolyte imbalances |
Diagnosis/Disease:
Fanconi's syndrome (proximal tubular reabsorption defect) |
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Clinical Presentation:
Positive anterior "drawer sign" |
Diagnosis/Disease:
Anterior cruciate ligament (ACL) injury |
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Clinical Presentation:
Ptosis, miosis, anhidrosis |
Diagnosis/Disease:
Horner's syndrome (sympathetic chain lesion) |
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Clinical Presentation:
Pupil accommodates but doesn't react |
Diagnosis/Disease:
Argyll Robertson pupil (neurosyphilis) (prostitute's pupil) |
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Clinical Presentation:
Rapidly progressive leg weakness that ascends (following GI/URI) |
Diagnosis/Disease:
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
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Clinical Presentation:
Rash on palms and soles |
Diagnosis/Disease:
Coxsackie A Secondary syphilis Rocky Mountain spotted fever |
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Clinical Presentation:
Recurrent colds, unusual eczema, high serum IgE |
Diagnosis/Disease:
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality) |
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Clinical Presentation:
Red "currant jelly" sputum in alcoholic or diabetic patients |
Diagnosis/Disease:
Klebsiella pneumoniae |
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Clinical Presentation:
Red, itchy, swollen rash of nipple/areola |
Diagnosis/Disease:
Paget's disease of the breast (represents underlying neoplasm) |
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Clinical Presentation:
Red urine in the morning, fragile RBCs |
Diagnosis/Disease:
Paroxysmal nocturnal hemoglobinuria |
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Clinical Presentation:
Renal cell carcinoma (bilateral); hemangioblastomas, angiomatosis, pheochromocytoma |
Diagnosis/Disease:
von Hibbel-Lindau disease (dominant tumor suppressor gene mutation) |
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Clinical Presentation:
Resting tremor, rigidity, akinesia, postural instability |
Diagnosis/Disease:
Parkinson's disease (nigrostriatal dopamine depletion) |
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Clinical Presentation:
Retinal hemorrhages with pale centers |
Diagnosis/Disease:
Roth's spots (bacterial endocarditis) |
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Clinical Presentation:
Severe jaundice in neonate |
Diagnosis/Disease:
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) |
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Clinical Presentation:
Severe RLQ pain with rebound tenderness |
Diagnosis/Disease:
McBurney's sign (appendicitis) |
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Clinical Presentation:
Short stature, increased incidence of tumors/leukemia, aplastic anemia |
Diagnosis/Disease:
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
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Clinical Presentation:
Single palm crease |
Diagnosis/Disease:
Simian crease (Down syndrome) |
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Clinical Presentation:
Situs inversus, chronic sinusitis, bronchiectasis, infertility |
Diagnosis/Disease:
Kartagener's syndrome (dynein arm defect affecting cilia) |
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Clinical Presentation:
Skin hyperpigmentation |
Diagnosis/Disease:
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production) |
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Clinical Presentation:
Slow, progressive muscle weakness in boys |
Diagnosis/Disease:
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's) |
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Clinical Presentation:
Small, irregular red spots on buccal/lingual mucosa with blue-white centers |
Diagnosis/Disease:
Koplik spots (measles; rubeola virus) |
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Clinical Presentation:
Smooth, flat, moist white lesions on genitals |
Diagnosis/Disease:
Condylomata lata (secondary syphilis) |
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Clinical Presentation:
Splinter hemorrhages in fingernails |
Diagnosis/Disease:
Bacterial endocarditis |
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Clinical Presentation:
"strawberry tongue" |
Diagnosis/Disease:
Scarlet fever, Kawasaki disease, toxic shock syndrome |
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Clinical Presentation:
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth |
Diagnosis/Disease:
Turner syndrome (45XO, short stature, webbed neck, lymphedema) |
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Clinical Presentation:
Sudden swollen/painful big toe joint, tophi |
Diagnosis/Disease:
Gout/podagra (hyperuricemia) |
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Clinical Presentation:
Swollen gums, mucous bleeding, poor wound healing, spots on skin |
Diagnosis/Disease:
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis) |
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Clinical Presentation:
Swollen, hard, painful finger joints |
Diagnosis/Disease:
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes]) |
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Clinical Presentation:
Systolic ejection murmur (crescendo-decrescendo) |
Diagnosis/Disease:
Aortic valve stenosis |
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Clinical Presentation:
Thyroid and parathyroid tumors, pheochromocytoma |
Diagnosis/Disease:
MEN 2A (autosomal dominant ret mutation) |
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Clinical Presentation:
Thyroid tumors, pheochromocytoma, ganglioneuromatosis |
Diagnosis/Disease:
MEN2B (autosomal dominant ret mutation) |
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Clinical Presentation:
Toe extension/fanning upon plantar scrape |
Diagnosis/Disease:
Positive Babinski sign (UMN lesion) (normal in infants) |
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Clinical Presentation:
Unilateral facial drooping involving forehead |
Diagnosis/Disease:
Bell's palsy (LMN CN VII palsy) |
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Clinical Presentation:
Urethritis, conjunctivitis, arthritis in a male |
Diagnosis/Disease:
Reactive arthritis associated with HLA-B27 |
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Clinical Presentation:
Vascular birthmark (port-wine stain) |
Diagnosis/Disease:
Hemangioma (benign, but associated with Sturge-Weber syndrome) |
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Clinical Presentation:
Vomiting blood following esophagogastric lacerations |
Diagnosis/Disease:
Mallory-Weiss syndrome (alcoholic and bulimic patients) |
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Clinical Presentation:
"Waxy" casts with very low urine flow |
Diagnosis/Disease:
Chronic end-stage renal disease |
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Clinical Presentation:
WBC casts in urine |
Diagnosis/Disease:
Acute pyelonephritis |
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Clinical Presentation:
Weight loss, diarrhea, arthritis, fever, adenopathy |
Diagnosis/Disease:
Whipple's disease (Tropheryma whippelii) |
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Clinical Presentation:
"worst headache of my life" |
Diagnosis/Disease:
Subarachnoid hemorrhage |