MS2013: First Aid Classical Presentations

  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. Athlete with polycythemia
    Erythropoietin injection
  6. Back pain, fever, night sweats, weight loss
    Pott's disease (vertebral tuberculosis)
  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 (increased osteoblastic and osteoclastic activity)
  11. Bounding pulses, diastolic heart murmur, head bobbing
    Aortic regurgitation
  12. Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
    McCune-Albright syndrome (mosaic G-protien signaling mutation)
  13. Cafe-au-lait spots, Lisch nodules (iris hamartoma)
    Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

    Neurofibromatosis type II (+ bilateral acoustic neuromas)
  14. Calf pseudohypertrophy
    Muscular dystrophy (most commonly Duchenne's)
  15. "Cherry-red spot" on macula
    Tay-Sachs (ganglioside accumulation) of Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
  16. 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)
  17. Child uses arm to stand up from squat
    Grower's sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
  18. Child with fever develops red rash on face that spreads to body
    "Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
  19. Chorea, dementia, caudate degeneration
    Huntington's disease (autosomal-dominant CAG repeat expansion)
  20. Chronic exercise intolerance with myalgia, fatigue, painful cramps
    McArdle's disease (muscle phosphorylase deficiency)
  21. Cold intolerance
  22. Conjugate lateral gaze palsy, horizontal diplopia
    Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
  23. Continuous "machinery" heart murmur
    PDA (close with indomethacin, open with misoprostol)
  24. Cutaneous/dermal edema due to connective tissue deposition
    Myxedema (hypothyroidism, Graves' disease)
  25. Dark purple skin/mouth nodules
    Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
  26. Deep, labored breathing/hyperventilation
    Kussmaul breathing (diabetic ketoacidosis)
  27. Dermatitis, dimentia, diarrhea
    Pellagra (niacin [vitamin B3] deficiency)
  28. Dilated cariomyopathy, edema, polyneuropathy
    Wet beriberi (thiamine [vitamin B1] deficiency
  29. Dog or cat bite resulting in infection
    Pasteurella multocida (cellulitis at inoculation site)
  30. Dry eyes, dry mouth, arthritis
    Sjogren's syndrome (autoimmune destruction of exocrine glands)
  31. Dysphagia (esophageal webs), glossitis, iron deficiency anemia
    Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
  32. Elastic skin, hypermobility of joints
    Ehlers-Danlos syndrome (collagen defect, usually type III)
  33. Enlarged, hard left supraclavicular node
    Virchow's node (abdominal metastasis)
  34. Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
    Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
  35. Facial muscle spasm upon tapping
    Chvostek's sign (hypocalcemia)
  36. Fat, female, forty and fertile
    Acute choleocystitis (bile duct blockage)
  37. Fever, chills, headache, myalgia following antibiotic treatment for syphilis
    Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
  38. Fever, cough, conjunctivitis, coryza, diffuse rash
    Measles (Morbillivirus)
  39. Fever, night sweats, weight loss
    B symptoms (lymphoma)
  40. Fibrous plaques in soft tissue of penis
    Peyronie's disease (connective tissue disorder)
  41. Gout, mental retardation, self-mutilating behavior in a boy
    Lesch-Nyham syndrome (HGPRT deficiency, X-linked recessive)
  42. Green-yellow rings around peripheral cornea
    Kayser-Fleischer rings (copper accumulation from Wilson's disease)
  43. Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
    Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction, increase cancer risk)
  44. Hepatosplenomegaly, osteoporosis, neurologic symptoms
    Gaucher's disease (glucocerebrosidase deficiency)
  45. Hereditary nephritis, sensorineural hearing loss, cataracts
    Alport's syndrome (type IV collagen mutation)
  46. Hypercoagulability (leading to migrating DVTs and vasculitis)
    Trousseau's sign (adenocarcinoma of pancreas or lung)
  47. Hyperphagia, hypersexuality, hyperorality, hyperdocility
    Kluver-Bucy syndrome (bilateral amygdala lesion)
  48. Hypertension, hypokalemia, metabolic acidosis
    Conn's syndrome (1° hyperaldosteronism)
  49. Hypoxemia, polycythemia, hypercapnia
    "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
  50. Indurated, ulcerated genital lesion
    Nonpainful: chancre (1° syphilis, Treponema pallidum)

    Painful, with exudate: chancroid (Haemophilus ducreyi)
  51. Insomnia, irritability, occasional tachycardia, periods of intense focus and/or mania followed by periods of depression
    STEP study
  52. Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
    Niemann-Pick disease (genetic sphingomyelinase deficiency)
  53. Infant with hypoglycemia, failure to thrive, and hepatomegaly
    Cori's disease (debranching enzyme deficiency)
  54. Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
    Edward's syndrome (trisomy 18)
  55. Jaundice, RUQ pain, fever
    Charcot's triad 2 (ascending cholangitis)
  56. Keratin pearls on skin biopsy
    Squamous cell carcinoma
  57. Large rash with bull's-eye appearance
    Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
  58. Lucid interval after traumatic brain injury
    Epidural hematoma (middle menigeal artery rupture)
  59. Male child, recurrent infections, no mature B cells
    Bruton's disease (X-linked agammaglobulinemia)
  60. Mucosal bleeding and prolonged bleeding time
    Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of Gpllb/llla)
  61. Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
    Gardner's syndrome (subtype of FAP)
  62. Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
    Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
  63. Neonate with arm paralysis following difficult birth
    Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
  64. No lactation postpartum, absent menstruation, cold intolerance
    Sheehan's syndrome (pituitary infarction)
  65. Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
    Multiple sclerosis
  66. Oscillating slow/fast breathing
    Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
  67. Painful blue fingers/toes, hemolytic anemia
    Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infections mononucleosis)
  68. Painful pale cold fingers/toes
    Raynaud's syndrome (vasospasm in extremities)
  69. Painful, raised red lesions on palms and soles
    Osler's node (infective endocarditis)
  70. Painless erythematous lesions on palms and soles
    Janeway lesions (infective endocarditis)
  71. Painless jaundice
    Cancer of the pancreatic head obstructing bilde duct
  72. Palpable purpura, joint pain, abdominal pain (child)
    Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
  73. Pancreatic, pituitary, parathyroid tumors
    Wermer's syndrome (MEN 1)
  74. Pink complexion, dyspnea, hyperventilation
    "Pink puffer" (emphysema: centroacinar [smoking], panacinar [α1-antitrypsin deficiency])
  75. Polyuria, acidosis, growth failure, electrolyte imbalances
    Fanconi's syndrome (proximal tubular reabsorption defect)
  76. Positive anterior "drawer sign"
    Anterior cruciate ligament (ACL) injury
  77. Ptosis, miosis, anhidrosis
    Horner's syndrome (sympathetic chain lesion)
  78. Pupil accommodates but doesn't react
    Argyll Robertson pupil (neurosyphilis)
  79. Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
    Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
  80. Rash on palms and soles
    2° syphilis, Rocky Mountain spotted fever
  81. Recurrent colds, unusual eczema, high serum IgE
    Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
  82. Red "currant jelly" sputum in alcoholic or diabetic patients
    Klebsiella pneumoniae
  83. Red, itchy, swollen rash of nipple/areola
    Paget's disease of the breast (represents underlying neoplasm)
  84. Red urine in the morning, fragile RBCs
    Paroxysmal nocturnal hemoglobinuria
  85. Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
    von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
  86. Resting tremor, rigidity, akinesia, postural instability
    Parkinson's disease (nigrostriatal dopamine depletion)
  87. Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
    Pompe's disease (lysosomal glucosidase deficiency)
  88. Retinal hemorrhages with pale centers
    Roth's spots (bacterial endocarditis)
  89. Severe jaundice in neonate
    Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
  90. Severe RLQ pain with rebound tenderness
    McBurney's sign (appendicitis)
  91. Short stature, increased incidence of tumors/leukemia, aplastic anemia
    Fanconi's anemia (genetically inherited; often progresses to AML)
  92. Single palm crease
    Simian crease (Down syndrome)
  93. Situs inversus, chronic sinusitis, bronchiectasis
    Kartagener's syndrome (dynein defect affecting cilia)
  94. Skin hyperpigmentation
    Addison's disease (1° adrenocortical insufficiency of autoimmune or infectious etiology)
  95. Slow, progressive muscle weakness in boys
    Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)
  96. Small, irregular red spots on buccal/lingual mucosa with blue-white centers
    Koplik spots (measles)
  97. Smooth, flat, moist white lesions on genitals
    Condylomata lata (2° syphilis)
  98. Splinter hemorrhages in fingernails
    Bacterial endocarditis
  99. "Strawberry tongue"
    Scarlet fever, Kawasaki disease, toxic shock syndrome
  100. Streak ovaries, congenital heart disease, horseshoe kidney
    Turner syndrome (XO, short stature, webbed neck, lymphedema)
  101. Sudden swollen/painful big toe joint, tophi
    Gout/podagra (hyperuricemia)
  102. Swollen gums, mucous bleeding, poor wound healing, spots on skin
    Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
  103. Swollen, hard, painful finger joints
    Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
  104. Systolic ejection murmur (crescendo-decresendo)
    Aortic valve stenosis
  105. Thyroid and parathyroid tumors, pheochromocytoma
    Sipple's syndrome (MEN 2A)
  106. Toe extension/fanning upon plantar scrape
    Babinski's sign (UMN lesion)
  107. Unilateral facial drooping involving forehead
    Bell's palsy (LMV CN VII palsy)
  108. Urethritis, conjunctivitis, arthritis in a male
    Reiter's syndrome (reactive arthritis associated with HLA-B27)
  109. Vascular birthmark (port-wine stain)
    Hemangioma (benign, but associated with Sturge-Weber syndrome)
  110. Vasculitis from exposure to endotoxin causing glomerular thrombosis
    Mallory-Weiss syndrome (alcoholic and bulimic patients)
  111. "Waxy" casts with very low urine flow
    Chronic end-stage renal disease
  112. WBC casts in urine
    Acute pyelonephritis
  113. Weight loss, diarrhea, arthritis, fever, adenopathy
    Whipple's disease (Tropheryma whippelii)
  114. "Worst headache of my life"
    Subarachnoid hemorrhage
Card Set
MS2013: First Aid Classical Presentations
Classic Presentations high Yield