Presentations HY

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