Classic Presentations

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AstephZ
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23176
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Classic Presentations
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2010-06-12 00:43:25
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  1. abdominal pain, ascites, hepatomegaly
    Budd-Chiari syndrome (posthepatic venous thrombosis)
  2. Achilles tendon xanthoma
    familial hypercholesterolemia
  3. Adrenal hemorrhage, hypotension, DIC
    Waterhouse-Friderichsen syndrome (meningococcemia)
  4. Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
    marfan's syndrome (fibrillin defect)
  5. back pain, fever, night sweats, weight loss
    Pott's disease (vertebral tuberculosis)
  6. Big toe extension/fanning upon plantar scrape
    Babinski's sing (UMN lesion)
  7. Bilateral hilar adenopathy, uveitis
    Sarcoidosis (noncaseating granulomas)
  8. Blue sclera
    Osteogenesis imperfecta (collagen defect)
  9. Bluish line on gingiva
    Burton's line (lead poisoning)
  10. Bone pain, bone enlargement, arthritis
    Paget's disease of bone ( increase osteoblastic & osteoclastic activity)
  11. Cafe-au-lauit spots, Lisch nodules (iris hamartoma)
    Neurofibromatosis type I
  12. cafe-au-lait spots, Lisch nodules, bilateral acoustic neuromas
    Neurofibromatosis Type II
  13. Calf pseudohypertrophy
    Muscular dystrophy (most commonly Duchenne's)
  14. "Cherry-red spot" on macula
    Tay-Sachs (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease)
  15. Chest pain, pericardial effusion/friction rub, persistent fever following MI
    Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
  16. Child uses arms to stand up from squat
    Gowers' sign (duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
  17. Child with fever develops red rash on face that spreads to body
    "slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
  18. Chorea, dementia, caudate degeneration
    Huntington's disease (autosomal-dominant CAG repeat expansion)
  19. Chronic exercise intolerance with myalgia, fatigue, painful cramps
    McArdle's disease ( muscle phosphorylase deficiency)
  20. Cold intolerance
    Hypothyroidism
  21. Conjugate lateral gaze palsy, horizontal diplopia
    Internuclear opthalmoplegia (damage to MLF; bilater [multiple sclerosis], unilateral [stroke])
  22. continous "machinery" heart murmur
    PDA (close with indomethacin; open with misoprostol)
  23. cutaneous/dermal edema due to connective tissue deposition
    myxedema (hypothyroidism, Graves' disease)
  24. Dark purple skin/mouth nodules
    Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
  25. Deep, labored breathing/hyperventilation
    Kussmaul breathing (diabetic ketoacidosis)
  26. Dermatitis, dementia, diarrhea
    Pellagra (niacin [vitamin B3] deficiency)
  27. dilated cardiomyopathy, edema, polyneuropathy
    wet beriberi (thiamine [vitamin B1] deficiency)
  28. Dog or cat bite resulting in infection
    Pasteurella multocida
  29. Dry eyes, dry mouth, arthritis
    Sjogren's syndrome
  30. Dysphagia (esophageal webs), glossitis, iron deficiency anemia
    Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
  31. Elastic skin, hypermobility of joints
    Ehlers-Danlos syndrome (collagen defect)
  32. Enlarged, hard left supraclavicular node
    Virchow's node (abdominal metastasis)
  33. Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
    Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
  34. Facial muscle spasm upon tapping
    Chvostek's sign (hypocalcemia)
  35. Fat, female, forty, and fertile
    Acute cholecystitis (bile duct blockage)
  36. Fever, chills, headache, myalgia following antibiotic treatment for syphilis
    Jarisch-herxheimer reaction (rapid lysis of spirochetes results in toxin release)
  37. Fever, cough, conjunctivitis, coryza, diffuse rash
    Measles (Morbillivirus)
  38. Fever, night sweats, weight loss
    B symptoms (lymphoma)
  39. Fibrous plaques in soft tissue of penis
    Peyronie's disease (connective tissue disorder)
  40. Gout, mental retardation, self-mutilating behavior in a boy
    Lesch-Nyhan syndrome (HGPRT deficiency)
  41. Green-yellow rings around peripheral cornea
    Kayser-Fleischer rings (copper accumulation from Wilson's disease)
  42. Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
    Peutz-Jeghers syndrome (genetic beign polyposis can cause bowel obstruction; increase cancer risk)
  43. Hepatosplenomegaly, osteoporosis, neurologic symptoms
    Gaucher's disease (glucocerebrosidase deficiency)
  44. Hereditary nephritis, sensorineural hearing loss, cataracts
    Alport's syndrome (collagen mutation)
  45. Hypercoagulability (leading to migrating DVTs and vasculitis)
    Trousseau's sign (adenocarcinoma of pancreas or lung)
  46. Hyperphagia, hypersexuality, hyperorality, hyperdocility
    Kluver-Bucy syndrome (bilateral amygdala lesion)
  47. Hypertension, hypokalemia, metabolic acidosis
    Conn's syndrome ( primary hyperaldosteronism)
  48. Hypoxemia, polycythemia, hypercapnia
    "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
  49. Indurated, ulcerated genital lesion (nonpainful)
    Chancre (treponema pallidum)
  50. Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
    Niemann-Pick disease (genetic sphingomyelinase deficiency)
  51. Infant with hypoglycemia, failure to thrive, and hepatomegaly
    Cori's disease (debranching enzyme deficiency)
  52. Infant with microcephaly, rocker-bottom feet, and structural heart defect
    Edward's syndrome (Trisomy 18)
  53. Jaundice, RUQ pain, fever
    Charcot's triad 2 (ascending cholangitis)
  54. Keratin pearls on a skin lesion
    Squamous cell carcinoma
  55. Large rash with bull's-eye appearance
    erythema chronicum migrans from tick bite (Lyme disease: Borrelia)
  56. Lucid interval after traumatic brain injury
    Epidural hematoma
  57. male child, recurrent infections, no mature B cells
    Bruton's disease (X-linked agammaglobulinemia)
  58. mucusoal bleeding and prolonged bleeding time
    Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
  59. Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
    Gardener's syndrome (genetic disorder, predisposes to colon cancer)
  60. necrotizing vasculitis (lungs0 and necrotizing glomerulonephritis
    Wegener's and Goodpastures's syndromes (hemoptysis and glomerular disease)
  61. Neonate with arm paralysis following difficult birth
    Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
  62. No lactation postpartum, absent menstruation, cold intolerance
    Sheehan's syndrome (pituitary infaction)
  63. nystagmus, intention tremor, scanning speech
    Charcot's triad 1 (multiple sclerosis)
  64. Oscillating slow/fast breathing
    Cheyne-stokes respirations (central apnea in CHF or increase intracranial pressure)
  65. Painful blue fingers/toes, hemolytic anemia
    cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
  66. Painful, pale, cold fingers/toes
    Raynaud's syndrome (vasospasm in extremitites)
  67. Painful, raised red lesions on palms and soles
    Osler's node (infective endocarditis)
  68. painless jaundice
    Cancer of the pancreatic head obstructing bile duct
  69. palpable purpura, joint pain, abdominal pain (child)
    Henoch-Schonlein purpura (IgA vasculitits affecting skin and kidneys)
  70. Pancreatic, pituitary, parathyroid tumors
    Wermer's syndrome (MEN 1)
  71. Pink complexion, dyspnea, hyperventilation
    "Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
  72. Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl
    McCune-Albright syndrome (mosaic G-protein signaling mutation)
  73. Polyuria, acidosis, growth failure, electrolyte imbalances
    Fanconi's syndrome (proximal tubular reabsorption defect)
  74. Positive anterior "drawer sign"
    Anterior cruciate ligament (ACL) injury
  75. Ptosis, miosis, anhidrosis
    Horner's syndrome (sympathetic chain lesion)
  76. Pupil accommodates but don't react
    Argyll Robertson pupil (neurosyphilis)
  77. Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
    Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
  78. Rash on paslms and soles
    Secondary syphilis, Rocky Moutain spotted fever
  79. recurrent colds, unusual eczema, high serum IgE
    Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
  80. Red "currant jelly" sputum
    klebsiella pneumoniae
  81. red, itchy, swollen rash of nipple/areola
    Paget's disease of the breast (represents underlying neoplasm)
  82. Red urine in the morning
    paroxysmal nocturnal hemoglobinuria
  83. Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
    von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
  84. Resting tremor, rigidity, akinesia, postural instability
    parkinson's disease (nigrostriatal dopamine depletion)
  85. restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
    Pompe's disease (lysosomal glucosidase deficiency)
  86. retinal hemorrhages with pale centers
    Roth's spots (bacterial endocarditis)
  87. Severe jaundice in neonate
    Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
  88. Severe RLQ pain with rebound tenderness
    McBurney's sign (appendicitis)
  89. Short stature, increase incidence of tumors/leukemia, aplastic anemia
    Fanconi's anemia (genetically inherited; often progesses to AML)
  90. Single palm crease
    Simian crease (Down's syndrome)
  91. Situs inversus, chronic sinusistis, bronchiectasis
    Kartagener's syndrome (dynein defect affecting cilia)
  92. Skin hyperpigmentation
    Addison's disease (primary adrenocortical insufficiency of autoimmune or infectious etiology)
  93. slow, progressive muscle weakness in boys
    Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)
  94. Small, irregular red spots on buccal/lingual mucosa with blue-white centers
    Koplik spots (measles)
  95. Small, nontender, erythematous lesions on palms/soles
    Janeway lesions (infective endocarditis)
  96. smooth, flat, moist white lesions on genitals
    Condylomata lata (secondary syphilis)
  97. Splinter hemorrhages in fingernails
    Bacterial endocarditis
  98. "Strawberry tongue"
    Scarlet fever, Kawasaki disease, toxic shock syndrome
  99. Streak ovaries, congenital heart disease, horseshoe kidney
    Turner's syndrome (XO, short stature, webbed neck, lymphedema)
  100. Sudden swollen/painful big toe joint, tophi
    Gout/podagra (hyperuricemia)
  101. swollen gums, mucous bleeding, poor wound healing, spots on skin
    Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
  102. swollen, hard, painful finger joints
    Osteoarthritis (osteophytes on PIP[Bouchard's nodes], DIP [Heberden's nodes])
  103. Systolic ejection murmur (crescendo-decrescendo)
    aortic valve stenosis
  104. thyroid, parathyroid, adrenal tumors
    Sipple's syndrome (MEN 2A)
  105. Ulcerated genital lesion with exudate (painful)
    Chancroid (Haemophilus ducreyi)
  106. Unilateral facial drooping
    Bell's palsy (LMN CN VII palsy)
  107. Urethritis, conjunctivitis, arthritis in a male
    Reiter's syndrome (reactive arthritis associated with HLA-B27)
  108. Vascular birthmark (port-win stain)
    Hemangioma (benign, but associated with Sturge-weber syndrome)
  109. Vasculitis from exposure to endotoxin
    Shwartzman reaction (following second exposure to endotoxin)
  110. vomiting blood following esophagogastric lacerations
    Mallory-Weiss syndrome (alcoholics and eating disorders)
  111. "Waxy" casts with very low urine flow
    Chronic end-stage renal disease
  112. WBC casts in urine
    Acute pyelonephritis or cystitis
  113. Weight loss, diarrhea, arthritis, fever, adenopathy
    Whippel's disease (Tropheryma whippelii)
  114. "Worst headache of my life"
    Berry aneurysm (associated with adult polycystic kidney disease)

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