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2013-06-11 15:24:34
classic symptoms

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  1. Abd ominal pain, ascites, hepatomegaly?
    Budd-Chiari syndrome (posthepatic venous thrombosis)
  2. Achilles tendon xanthoma?
    Fam i l i a l hypercholesterolemia ( decr. LDL receptor signal ing)
  3. Ad renal hemorrhage, hypotension, DIC?
    Waterhouse-Friderichsen syndrome (meningococcemia)
  4. Arachnodactyly, lens dislocation, aortic dissection,
    • hyperflexible joints?
    • Marfin; fibrilin
  5. Athlete w ith polycythemia?
    2° to eryth ropoietin i n jection
  6. Back pain, fever, night sweats, weight loss?
    Pott's disease (vertebral tuberculosis)
  7. Bilateral h ilar adenopathy, uveitis?
    Sarcoidosis (noncaseating granulomas)
  8. Blue sclera?
    Osteogenesis imperfecta (type I collagen defect)
  9. Bluish line on gingiva?
    Burton's l ine ( lead poisoning)
  10. Bone pai n , bone enlargement, arthritis?
    • Paget's disease of bone (^ osteoblastic and osteoclastic
    • activity)
  11. Bounding pulses, diastolic heart murmur, head bobbing?
    Aortic regurgitation
  12. "Butterfly" facial rash and Raynaud 's phenomenon i n a young
    • female?
    • SLE
  13. Cafe-au-lait spots, Lisch nodules (iris hamartoma)?
    • Neurofibromatosis type I (+ pheochromocytoma , optic
    • gliomas)
  14. Cafe-au-la it spots, polyostotic fibrous dysplasia, precocious
    • puberty, multiple endocrine abnorma l ities?
    • McCune-Albright syndrome (mosaic G -prote i n signal i n g
    • mutation)
  15. Calf pseudohypertrophy?
    • Muscular dystrophy (most commonly Duchenne's) : X-l inked
    • recessive deletion of dystroph i n gene
  16. "Cherry-red spot" on macula?
    • Tay- Sachs (ganglioside accumulation) or Niemann-Pick
    • (sph ingomyelin accumulation), central ret inal artery occlusion
  17. Chest pain on exertion?
    • Angina (stable : with moderate exertion; unstable : with
    • m i n i mal exertion)
  18. Chest pain, pericardia! effusion/friction rub, persistent fever
    • fol lowing M I?
    • Dressler's syndrome (autoimmune-mediated post- M I
    • fibrinous pericarditis, l-1 2 weeks after acute episode)
  19. Child uses arms to stand u p from squat?
    Cowers' sign ( D uchenne muscular dystrophy)
  20. Child w ith fever l ater develops red rash on face that spreads to
    • body?
    • Cowers' sign ( D uchenne muscular dystrophy)
  21. Chorea, dementia, caudate degeneration?
    • Huntington's d isease (autosomal-dominant CAG repeat
    • expansion)
  22. Chroni c exercise i ntolerance with myalgia, fatigue, painful
    • cramps, myoglobinuria?
    • McArdle's d isease (muscle glycogen phosphorylase deficiency)
  23. Cold i ntolerance?
  24. Conjugate l ateral gaze palsy, horizontal diplopia?
    • Internuclear ophthalmoplegia (damage to M LF; bilateral
    • [multiple sclerosis], u n i l ateral [stroke])
  25. Continuous "machi nery" heart murmur?
  26. Cutaneous/dermal edema due to connective tissue deposition
    • Myxedema (caused by hypothyroidism, Graves' d i sease
    • [pretibial])
  27. Dark purple skin/mouth nodules?
    • Kaposi's sarcoma (usually AIDS patients [MSM]: associated
    • with H HV- 8 )
  28. Deep, labored breathin g/hyperventilation?
    Kussmaul breathing (diabetic ketoacidosis)
  29. Dermatitis, dementia, diarrhea?
    Pel lagra (niacin [vitamin B 3] deficiency)
  30. Dilated card iomyopathy, edema, alcohol ism or malnutrition?
    Wet beriberi (thiamine [vitamin B d deficiency)
  31. Dog or cat bite resulting in infection?
    Pa steurella mu ltocida (cellulitis at inoculation s ite )
  32. Dry eyes, dry mouth, arthritis?
    • Sjogren's syndrome (autoimmune destruction of exocrine
    • glands)
  33. Dysphagia (esophageal webs) , glossitis, i ron deficiency
    • anemia?
    • Plummer-Vi nson syndrome (may progress to esophageal
    • squamous cell carcinoma)
  34. Elastic ski n , hypermobi lity of j o i nts?
    Ehlers-Danlos syndrome (type III collagen defect)
  35. Enlarged, hard left supraclavicular node?
    Vi rchow's node (abdom i n al metastasis)
  36. Eryth roderma, lymphadenopathy, hepatosplenomegaly,
    • atypical T cells?
    • Sezary syndrome (cutaneous T-cell lymphoma) or mycosis
    • fungoides
  37. Facial muscle spasm upon tapping?
    Chvostek's sign ( hypocalcem i a )
  38. Fat, female, forty, and fertile?
    Cholel ith iasis (gallstones)
  39. Fever, chills, headache, myalgia following antibiotic
    • treatment for syph i l i s?
    • Jarisch-Herxheimer reaction (rapid lysis of spi rochetes results
    • in toxi n release)
  40. Fever, cough , conjunctivitis, coryza, d i ffuse rash?
    Measles (Morbillivirus)
  41. Fever, night sweats, weight loss?
    B symptoms (staging) of lymphoma
  42. Fibrous plaques in soft tissue of penis?
    Peyronie's d isease (connective ti ssue d isorder)
  43. Gout, mental reta r dation, self-mutilating behavior in a boy?
    • Lesch-Nyhan syndrome ( H G PRT deficiency, X-linked
    • recessive)
  44. Green-yellow rings around peripheral" cornea?
    • Kayser-Fleischer ri ngs (copper accumulation from Wilson's
    • disease)
  45. Hamartomatous GI polyps, hyperpigmentation of
    • mouth/feet/hands?
    • Peutz-Jeghers syndrome ( i nherited, benign polyposis can
    • cause bowel obstruction ; t cancer risk, m a i n ly G I )
  46. Hepatosplenomegaly, osteoporosis, neurologic
    • symptoms?
    • Gaucher's disease (glucocerebrosidase deficiency)
  47. Hereditary neph ritis, sensorineural hearing loss,
    • cataracts?
    • Alport syndrome (mutation in a chain of collagen IV)
  48. Hyperphagia, hypersexual ity, hyperora l ity,
    • hyperdocility?
    • Kluver-Bucy syndrome (bilateral a mygdala lesion)
  49. Hyperreflexia, hyperton ia, Babinski sign present?
    U M N damage
  50. Hyporeflexia, hypoton ia, atrophy, fasciculations?
    LMN damage
  51. Hypoxemia, polycythemia, hypercapn ia?
    • " Blue bloater" (chron ic bronch itis: hyperplasia of mucous
    • cells)
  52. Indurated, ulcerated gen ital lesion?
    • Nonpai n ful: chancre ( 1 ° syph i l i s , Treponema pallidwn)
    • Pa infu l , with exudate : chancroid (Haemophilus ducreyi)
  53. Infant with cleft lip/palate, microcephaly or
    • holoprosencephaly, polydactyly, cutis aplasia?
    • Patau's Trisomy 13