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Classic Presentation
Clinical presentation vs. Diagnosis/disease
| Clinical presentation | Diagnosis/disease |
|---|---|
| Abdominal pain, ascites, hepatomegaly | Budd-Chiari syndrome (posthepatic venous thrombosis) |
| Achilles tendon xanthoma | Familial hypercholesterolemia (decrease LDL receptor signaling) |
| Adrenal hemorrrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfan's syndrome (fibrillin defect) |
| Athlete with polycythemia | 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 (collagen defect) |
| Bluish line on gingiva | Burton's line (lead poisoning) |
| Bone pain, bone enlargement, arthritis | Paget's disease of bone (increase osteoblastic and osteoclastic activity) |
| Bounding pulses, diastolic heart murmur, head bobbing | Aortic regurgitation (DE mussets sign) |
| "Butterfly" facial rash and Raynaud's phenomenon in a young female | Systemic lupus erythematosus |
| Cafe-au-lait spots, Lisch nodules (iris hamartoma) | Neurofibromatosis type I (+ pheochromoctoma, optic gliomas) Neurofibromatosis type II (+ bilateral acousic neuromas) |
| Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty | McCune-Albright syndrome (mosaic G-protein signaling mutation) |
| Calf pseudohypertrophy | Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene |
| "Cherry-red spot" on macula | Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
| Chest pain on exertion | Angina (stable: moderate exertion; unstable: 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 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, myoglobinuria | McArdle's disease (muscle glycogen phophorylase deficiency) |
| Cold intolerance | Hypothyroidism |
| Conjugate lateral gaze palsy, horizontal diplopia | Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]) |
| Continuous "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 patients [gay men]: 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 at inoculation site) |
| 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 (type III collagen defect) |
| Enlarged, hard left supraclavicular node | Virchow's node (abdominal metatasis) |
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides) |
| Facial muscles spasm upon tapping | Chvostek's sign (hypocalcemia) |
| Fat, female, forty, and fertile | Acute cholelithiasis (bile duct blockage) |
| 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 (lymphoma) |
| Fibrous plaques in soft tissue of penis | Peyronie's disease (connective tissue disorder) |
| Gout, mental retardation, self-mutilation 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-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increase cancer risk) |
| Hepatosplenomegaly, osteoporosis, neurologic symptoms | Gaucher's disease (glucocerebrosidase deficiency) |
| Hereditary nephritis, sensorineural hearing loss, cataracts | Alport syndrome (mutation in α chain of collagen IV) |
| Hypercoagulability (leading to migrating DVTs and vaculitis | Trousseau's sign (adenocarcinoma of pancreas or lung) |
| Hyperphagia, hypersexuality, hyperorality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion) |
| Hyperreflexia, hypertonia, positive Babinski sign | UMN damage |
| Hypertension, hypokalemia, metabolic alkalosis | Conn's syndrome |
| Hyporeflexia, hypotonia, atrophy | LMN damage |
| Hypoxemia, polycythemia, hypercapnia | "blue bloater" (chronic bronchitis: hyperplasia of mucous cells) |
| Indurated, ulcerated genital lesion | Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi) |
| Infant with failure to thrive, hepatosplenomegaly | Niemann-Pick disease (genetic sphingomyelinase deficiency) |
| Infant with hypoglycemia, failure to thrive, and hepatomegaly | Cori's disease (debranching enzyme deficiency) |
| Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect | Edwards' syndrome (trisomy 18) |
| Keratin pearls on a skin biopsy | Squamous cell carcinoma |
| Large rash with 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) |
| 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) |
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis | Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies) |
| Neonate with arm paralysis following difficult birth | Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip") |
| No lactation postpartum, absent menstruation, cold intolerance | Sheehan's syndrome (pituitary infarction) |
| Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia | Multiple sclerosis |
| Oscillating slow/fast breathing | Cheyne-Stokes respirations (central apnea in CHF or increase intracranial pressure) |
| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis) |
| Painful, pale, cold fingers/toes | Raynaud's syndrome (vasospasm in extremities) |
| Painful, raised red lesions on palms and soles | Osler's node (infective endocarditis) |
| Painless erythematous lesions on palms and soles | Janeway lesions (infective endocarditis) |
| Painless jaundice | Cancer of the pancreatic head obstructing bile duct |
| Palpable purpura on buttocks/legs, joint pain, abdominal pain (child) | Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
| Pancreatic, pituitary, parathyroid tumors | MEN 1 (autosomal dominant) |
| Pink complexion, dyspnea, hyperventilation | "Pink puffer" (emphysema: centroacinar [smoking] panacinar [α1-antitrypsin deficiency]) |
| Polyuria, acidosis, growth failure, electrolyte imbalances | Fanconi's syndrome (proximal tubular reabsorption defect) |
| Positive anterior "drawer sign" | Anterior cruciate ligament (ACL) injury |
| Ptosis, miosis, anhidrosis | Horner's syndrome (sympathetic chain lesion) |
| Pupil accommodates but doesn't react | Argyll Robertson pupil (neurosyphilis) |
| Rapidly porgressive leg weakness that ascends (following GI/upper respiratory infection) | Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
| Rash on palms and soles | Coxsackie A, 2° syphilis, Rocky Mountain spotted fever |
| Recurrent colds, unusual eczema, high serum IgE | Hyper-IgE syndrom (Job's syndrome: neutrophil chemotaxis abnormality) |
| Red "currant jelly" sputum in alcoholic or diabetic patients | Klebsiella pneumoniae |
| Red, itchy, swollen rash of nipple/areola | Paget's disease of the breast (represents underlying neoplasm) |
| Red urine in the morning, fragile RBCs | 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's spots (bacterial endocarditis) |
| Severe jaundice in neonate | Crigler-Najjar syndrome (cogenital unconjungated hyperbilirubinermia) |
| Severe RLQ pain with rebound tenderness | McBurney's sign (appendicitis) |
| Short stature, increase incidence of tumors/leukemia, aplastic anemia | Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
| SIngle palm crease | Simian crease (Down Syndrome) |
| Situs inversus, chronic sinustis, bronchiectasis, infertility | Kartagener's syndrome (dynein arm defect affecting cilia) |
| Skin hyperpigmentation | Addison's disease (1° adrenocortical insufficiency causes increase ACTH and α-MSH production) |
| Slow, progressive muscle weakness in boys | Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's) |
| Small, irregular red spots on buccal/lingual mucosa with blu-white centers | Koplik spots (measles; rubeola virus) |
| Smooth, flat, moist white lesions on genitals | Condylomata lata (2° syphilis) |
| Splinter hemorrhages in fingernails | Bacterial endocarditis |
| "Strawberry tongue" | Scarlet fever, Kawasaki disease, toxic shock syndrome |
| Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth | Turner syndrome (45XO, short stature, webbed neck, lymphedema) |
| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia) |
| Swallen 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]) |
| Systolic ejection murmur (crescendo-decrescendo) | Aortic valve stenosis |
| Thyroid and parathyroid tumors, pheochromcytoma | MEN 2A (autosomal dominant ret mutation) |
| Thyroid tumors, pheochromocytoma, ganglioneuromatosis | MEN 2B (autosomal dominant ret mutation) |
| Toe extension/fanning upon plantar scrape | Babinski sign (UMN lesion) |
| Unilateral facial drooping involving forehead | Bell's 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 esophagogastic lacerations | Mallory-Weiss syndrome (alcoholic and bulimic patients) |
| "Waxy" casts with very low urine flow | Chronic end-stage renal disease |
| WBC casts in urine | Acute pyslonphritis |
| Weight loss, diarrhea, arthritis, fever, adenopathy | Whipple disease (Tropheryma whippelii) |
| "Worst headache of my life" | Subarachnoid hemorrhage |
Created by:
zdevilbiss
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