Classic Presentations Flashcards

1
Q

Budd-Chiari syndrome

A

posthepatic venous thrombosis (abdominal pain, ascites, hepatomegaly)

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2
Q

Familial Hypercholesterolemia (decreased LDL receptor signaling)

A

achilles tendon xanthoma

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3
Q

Waterhouse-Friderichsen Syndrome (meningococcemia)

A

adrenal hemorrhage, hypotension, DIC

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4
Q

ACL injury

A

Anterior “drawer sign” +

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5
Q

Marfan syndrome (fibrillin defect)

A

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

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6
Q

Secondary to erythropoietin injection

A

athlete with polycythemia

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7
Q

Pott disease (vertebral TB)

A

Back pain, fever, night sweats, weight loss

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8
Q

Sarcoidosis (noncaseating granulomas)

A

bilateral hilar adenopathy, uveitis

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9
Q

Osteogenesis imperfecta (type I collagen defect)

A

blue sclera, multiple fractures

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10
Q

Burton line (lead poisoning)

A

bluish line on gingiva

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11
Q

Paget disease of bone (increased osteoblastic and osteoclastic activity)

A

bone pain, bone enlargement, arthritis

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12
Q

Aortic regurgitation

A

bounding pulses, diastolic murmur, head bobbing

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13
Q

Systemic Lupus Erythematosus

A

“butterfly” facial rash, Reynaud phenomenon in a young female

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14
Q

Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)

A

Cafe-au-lait spots, Lisch nodules (iris hamartomas)

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15
Q

McCune-Albright Syndrome (mosaic G protein signaling mutation)

A

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

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16
Q

Muscular dystrophy (usually Duchenne); X-linked recessive deletion of dystrophin gene

A

calf pseudohypertrophy

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17
Q

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation); central retinal artery occlusion

A

Cherry red spots on macula

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18
Q

Angina (stable: with moderate exertion; unstable: with minimal exrertion)

A

Chest pain on exertion

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19
Q

Dressler syndrome (autoimmune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

A

Chest pain, pericardial effusion/friction rub, persistent fever following MI

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20
Q

Gower’s sign (Duchenne muscular dystrophy)

A

Child uses arms to stand up from squat

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21
Q

“Slapped Cheeks” (erythema infectiousu/5th disease; parvovirus B19)

A

Child with fever later develops red rash on face that spreads to body

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22
Q

Huntington disease (autosomal dominant CAG repeat expansion)

A

Chorea, dementia, caudate degeneration

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23
Q

McArdle Disease (muscle glycogen phosphorylase deficiency)

A

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

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24
Q

Hypothyroidism

A

Cold intolerance

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25
Q

Internuclear ophthalmoplegia (damage to MLF; bilateral-MS; unilateral-stroke)

A

Conjugate lateral gaze palsy, horizontal diplopia

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26
Q

PDA (close with indomethacin; open or maintain with misoprostol)

A

Continuous “machine-like” heart murmur

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27
Q

Myxedema (caused by hypothyroidism, Graves disease (pretibial))

A

Cutaneous/dermal edema due to connective tissue deposition

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28
Q

Kaposi sarcoma, associated with HHV8

A

dark purple skin/mouth nodules in a patient with AIDS

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29
Q

Kussmaul respirations (diabetic ketoacidosis)

A

deep, labored breathing/hyperventilation

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30
Q

Pellagra (niacin/Vit B3 deficiency)

A

dermatitis, dementia, diarrhea

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31
Q

Wet beriberi (thiamine/Vit B1 deficiency)

A

Dilated cardiomyopathy, edema, alcoholism or malnutrition

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32
Q

Pasturella multocida (cellulitis at inoculation site)

A

dog or cat bite resulting in infection

33
Q

Sjogren syndrome (autoimmune destruction of exocrine glands)

A

dry eyes, dry mouth, arthritis

34
Q

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

A

dysphagia (esophageal webs), glossitis, iron deficiency anemia

35
Q

Ehlers-Danlos syndrome (Type III collagen defect)

A

elastic skin, hypermobility of joints

36
Q

Virchow node (abdominal metastasis)

A

enlarged, hard left supraclavicular node

37
Q

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungicides + malignant T cells in blood)

A

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

38
Q

Chvostek sign (hypocalcemia)

A

facial muscle spasm upon tapping

39
Q

Cholelithiasis (gallstones)

A

fat, female, 40, fertile

40
Q

Jarish-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

A

fever, chills, headache, myalgia following antibiotic treatment for syphillis

41
Q

Measles

A

fever, cough, coryza, conjunctivitis, diffuse rash

42
Q

B symptoms (staging) of lymphoma

A

fever, night sweats, weight loss

43
Q

Peryonie disease (connective tissue disorder)

A

fibrous plaques in soft tissue of penis

44
Q

Lesch-Nyhan syndrome (HGPRT deficiency; X linked recessive)

A

gout, intellectual disability, self-mutilating behavior in a boy

45
Q

Kayser-Fleischer rings (copper accumulation from Wilson disease)

A

Green-yellow rings around peripheral cornea

46
Q

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

A

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

47
Q

Gaucher disease (glucocerebrosidase deficiency)

A

hepatosplenomegaly, osteoporosis, neurologic symptoms

48
Q

Alport syndrome (mutation in collagen IV)

A

hereditary nephritis, sensorineural hearing loss, cataracts

49
Q

Kluver-Bucy syndrome (bilateral amygdala lesion)

A

hyperphagia, hypersexuality, hyperorality, hyperdocility

50
Q

UMN damage

A

hyperreflexia, hypertonia, Babinski sign present

51
Q

LMN damage

A

hyporeflexia, hypotonia, atrophy, fasciculations

52
Q

“Blue bloater” (chronic bronchitis, hyperplasia of mucosal cells)

A

hypoxemia, polycythemia, hypercapnia

53
Q

Nonpainful: chancre (1 syphilis, Treponema pallidum)

Painful with exudate: chancroid (Haemophilus decreyi)

A

indurated, ulcerated genital lesion

54
Q

Patau syndrome (trisomy 13)

A

infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

55
Q

Niemann-Pick disease (genetic sphingomyelinase deficiency)

A

infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

56
Q

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

A

Infant with hypoglycemia, failure to thrive, and hepatomegaly

57
Q

Edwards syndrome (Trisomy 18)

A

infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

58
Q

Courvoisier sign (digital obstruction of biliary tree)

A

jaundice, palpable distended non-tender gallbladder

59
Q

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

A

large rash with bullseye appearance

60
Q

Epidural hematoma (middle meningeal artery rupture)

A

lucid interval after traumatic brain injury

61
Q

Bruton disease (X-linked agammaglobulinemia)

A

male child, recurrent infections, no mature B cells)

62
Q

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

A

mucosal bleeding and prolonged bleeding time

63
Q

Beck triad of cardiac tamponade

A

muffled heart sounds
distended neck veins
hypotension

64
Q

Gardner syndrome (subtype of FAP)

A

multiple colonic polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

65
Q

Pompe disease (lysosomal alpha-1,4 glucosidase deficiency)

A

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

66
Q

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury; waiter’s tip)

A

neonate with arm paralysis following difficult birth

67
Q

Sheehan syndrome (pituitary infarction)

A

no lactation postpartum, absent menstruation, cold intolerance

68
Q

Multiple sclerosis

A

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

69
Q

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

A

oscillating slow/fast breathing

70
Q

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis)

A

painful blue fingers/toes, hemolytic anemia

71
Q

Raynaud phenomenon (vasospasm in extremities)

A

painful, pale, cold fingers/toes

72
Q

Osler nodes (infective endocarditis, immune complex deposition)

A

painful, raised red lesions on pad of fingers/toes

73
Q

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

A

painless erythematous lesions on palms and soles

74
Q

Cancer of the pancreatic head obstructing bile duct

A

painless jaundice

75
Q

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

A

palpable purpura on buttocks/legs, joint pain, abdominal pain (child) hematuria

76
Q

MEN 1 (AD)

A

pancreatic, pituitary, parathyroid tumors

77
Q

Nephrotic syndrome

A

periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

78
Q

“Pink puffer” (emphysema: centriacina (smoking); panacinar (alpha 1 antitrypsin deficiency)

A

Pink complexion, dyspnea, hyperventilation

79
Q

Fanconi syndrome (proximal tubular reabsorption defect)

A

polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets