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USMLE STEP 1 > classic presentations > Flashcards

classic presentations Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-Chiary syndrome (posthepatic venous thrombosis)

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2
Q

achilles tendon xanthoma

A

familial cholesterolemia (decreased LDL receptor signaling)

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3
Q

adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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5
Q

athlete with polycythemia

A

secondary to erythropoietin injection

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6
Q

back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

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7
Q

bilateral hilar adenopathy, uveitis

A

sacroidosis (noncaseating granulomas)

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8
Q

blue sclera

A

osteogenesis imperfecta (type I collagen defect)

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9
Q

bluish line on gingiva

A

burton’s line (lead poisoning)

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10
Q

bone pain, bone enlargement, arthritis

A

Paget’s disease of bone (increased osteoblastic and osteoclastic activity)

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11
Q

bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation

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12
Q

“butterfly” facial rash and Raynaud’s phenomenon in a young female

A

SLE

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13
Q

cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

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14
Q

cafe-au-lait spots, polyostotic fibrous dysplasia, precopious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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15
Q

calf pseudohypertrophy

A

muscular dystrophy (most commonly Duchennes); X-linked recessive deletion of dystrophin gene

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16
Q

“cherry-red spot” on macula

A

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

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17
Q

chest pain on exertion

A

angina (stable: with moderate exertion; unstable: with minimal exertion)

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18
Q

chest pain, pericardial effusio/friction rub, persistent fever following MI

A

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

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19
Q

child used arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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20
Q

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

A

“slapped cheeks” (erythema infectosum/fifth disease: parvovirus B19)

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21
Q

chorea, dementia, caudate degeneration

A

Hungtinton’s disease (autosomal-dominant CAG repeat expansion)

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22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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23
Q

cold intolerance

A

hypothyroidism

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24
Q

conjugate lateral gaze palsy, horizontal diplopia

A

internuclear opthalmoplegia (damage to MLF; bilateral–>MS, unilateral–>stroke)

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25
Q

continuous “machinery” heart murmur

A

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

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26
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (caused by hypothyroidism, Grave’s disease (pretebial))

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27
Q

dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients [MSM]: associated with HHV-8)

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28
Q

deep, labored breathin/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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29
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin (B3) deficiency)

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30
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine (B1) deficiency)

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31
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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32
Q

dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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34
Q

elastic skin, hypermobility of joints

A

Ehler;s-Danlos syndrome (type III collagen defect)

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35
Q

enlarged, hard left supraclavicular nodule

A

Virchow’s node (abdominal metastasis)

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36
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T cell lymphoma) or mucosis fungoides

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37
Q

facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

fate, female, forty, and fertile

A

cholelithiasis (gallstones)

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39
Q

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

A

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

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40
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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41
Q

fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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42
Q

fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

gout, mental retardation, self-mutilating behavior in a boy

A

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

44
Q

green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s disease)

45
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

46
Q

hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

47
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

48
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

50
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

hypoxemia, polycythemia, hypercapnia

A

“blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

52
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis. Treponema pallidum); painful with exudate: chancroid (Haemophilus duscreyi)

53
Q

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

A

Patau’s syndrome (trisomy 13)

54
Q

infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

56
Q

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

A

Edward’s syndrome (trisomy 18)

57
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction of biliary tree)

58
Q

large rash with bull’s-eye appearance

A

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

59
Q

lucid interval after traumatic brain injury

A

epidural hematoma (middle meningeal artery rupture)

60
Q

male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

61
Q

mucosal bleeding and prolonged bleeding time

A

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

62
Q

muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

63
Q

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumenary teeth

A

Gardener’s syndrome (subtype of FAP)

64
Q

myopathy (infantile hypertrophic cardiomyopathy),exercise ontolerance

A

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

65
Q

neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)

66
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

67
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

68
Q

oscillating slow/fast breathing

A

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

69
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

70
Q

painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospasm in extremities)

71
Q

painful, raised red lesions on pad of fingers/toes

A

Osler’s node (infective endocarditis, immune complex deposition)

72
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

73
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

74
Q

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

A

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

75
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

76
Q

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

A

nephrotic syndrome

77
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha 1 antitrypsin deficiency])

78
Q

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

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

positive anterior “drawer sign”

A

anterior cruciate ligament injury

80
Q

pruritic, purple, polygonal planar papules and plaques (6 Ps)

A

Lichen planus

81
Q

ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

82
Q

pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

83
Q

rapidly progressive leg weakness that ascends following GI/upper respiratory infection

A

Gullian-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

85
Q

recurrent colds, unusual eczema, high serum IgE

A

hyper IgE syndrome (Job’s syndrome: neutrophil chemotaxis abnormality)

86
Q

red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pheumoniae

87
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults), intussusception (infants)

88
Q

red, itchy, swollen rash of nipple/areola

A

Pagte’s disease of the breast (represents underlying neoplasm)

89
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

90
Q

renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

91
Q

resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

92
Q

retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

93
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

94
Q

severe RLQ pain with palpation of LLQ

A

Rovsing’s sign (acute appendicitis)

95
Q

severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

96
Q

short stature, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s anemia (genetic loss of DNA crosslink repair; often progresses to AML)

97
Q

single palmar crease

A

Simian crease (Down syndrome)

98
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

99
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production

100
Q

slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne’s)

101
Q

small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measles; rubeola virus)

102
Q

smooth, flat, moist, painless white lesions on genitals

A

condylomata lata (secondary syphilis)

103
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

104
Q

“strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

105
Q

streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45, XO)

106
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra (hyperurucemia)

107
Q

swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

USMLE STEP 1 (21 decks)

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