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USMLE Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

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USMLE® Step 1 flashcards
1
Q

Abdominal Pain, Ascites, Hepatomegaly

A

Budd-Chiari Syndrome (Post hepatic venous thrombosis)

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2
Q

Achilles Tendon Xanthoma

A

Familial Hypercholesterolemia (Decreased LDL Receptor Signaling)

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3
Q

Adrenal Hemorrhage, Hypotension, DIC

A

Waterhouse-Friderichsen Syndrome (meningococciemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s Syndrome (fibrillin defect)

Autosomal Dominant

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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

Sarcoidosis (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

Systemic Lupus Erythematosus

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13
Q

Café-au-lait spots, lisch nodules (iris harmartomas)

A

NF-1 (+pheochromocytoma, optic gliomas)

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14
Q

Café-au-lait spots, polyostotic fibrous dysplasia, precocious 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 common Duschenne’s): 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 effusion/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 uses 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 infectiosum/fifth disease: parvovirus B19)

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’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 ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [Stroke])

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25
Q

Continuous “Machine-like” heart murmur

A

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

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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves’ disease [pretibial])

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27
Q

Dark Purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients. Associated with HHV-8)

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28
Q

Deep, Labored breathing/hyperventilation

A

Kussmaul Breathing (DKA)

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29
Q

Dermatitis, dementia, death

A

Pellagra (niacin [Vit B3] deficiency)

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30
Q

Dilated Cardiomyopathy, edema, alcoholism or malnutrition

A

Wet Beriberi (Thiamine [Vit 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 eye, dry mouth, arthritis

A

Sjögren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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34
Q

Elastic Skin, hypermobility of joins

A

Ehlers-Danlos syndrome (type III collagen defect)

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35
Q

Enlarged hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sézary syndrome (cutaneous T-cell lymphoma) or Mycosis fungoides

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37
Q

Facial Muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

Fat, Female, Forty, 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 spirchetes results in toxin release)

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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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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-mutilation behavior in boys

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, hands and feet

A

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

46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher 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

Klüver-Bucy syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, babinski sign present

A

UMN lesion

50
Q

Hypotonia, hyporeflexia, atrophy, fasciculations

A

LMN Lesion

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 ducreyi)

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

Juandice, palpable distended non-tender gallbladder

A

Courvoisier’s Sign (distal obstruction of the biliary tree)

58
Q

Large rash with a bullseye appearance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme Disease)

59
Q

Lucid interval following traumatic brain injury

A

Epidural Hematoma (middle meningeal artery)

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 Thrombastenia (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/supernumerary teeth

A

Gardner’s Syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease (lyososmal a-1,4-glucosidase deficiency)

65
Q

Neonate with are paralysis following difficult birth

A

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

66
Q

No lactation postpardum, absent menstration, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

67
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

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 finger/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious monucleoisis)

70
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospasm in extremities)

71
Q

Painful, raised red lesions on pads of fingers/toes

A

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

72
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infectious endocarditis, septic emboli/microabscesses)

73
Q

Painless jaundice

A

Carcer of the pancreatic head obstructing bile duct

74
Q

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

A

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

75
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant)

76
Q

Periorbital and/or periperal edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

77
Q

Pink complexion, dyspnea, hyperventilation

A

“pink puffer” (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])

78
Q

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

A

Falconi’s syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior drawer sign

A

ACL injury

80
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

81
Q

ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

82
Q

Pupil accommodates but does not react

A

Argyll Robertson pupil (neurosyphillis)

83
Q

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

A

Guillain-Barré 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 pneumoniae

87
Q

Red “currant jelly” stool

A

Acute mesenteric ischemia (adults), intussusception (infants)

88
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast (represent 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 neonates

A

Crigler-Nijjar 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

McBerney’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 a-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 (hyperuricemia)

107
Q

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

A

Scurvy (vit C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

USMLE Rapid Review (1 decks)

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