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USMLE > Classic Presentations > Flashcards

Classic Presentations Flashcards

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USMLE® Step 1 flashcards
1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decrease LDL receptor signaling)

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4
Q

Adrenal Hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior “drawer sign”

A

Anterior Cruciate ligament injury

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7
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan Syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

Secondary to EPO injection

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9
Q

Back pain, fever, night sweats

A

Pott Disease (vertebral TB)

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10
Q

Bilateral acoustic schwnomas

A

NF2

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11
Q

Bilateral Hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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13
Q

Blue Sclera

A

Osteogenesis imperfecta (type 1 collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget Disease of bone (increase osteoblastic and osteoclastic activity)

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16
Q

Bounding pulses, diastolic murmur, head bobbing

A

Aortic Regurgitation

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17
Q

“Butterfly” facial rash and Raynaud phenomenon in young female

A

SLE

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18
Q

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas

A

NF1, pheochromocytoma, optic gliomas

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19
Q

Café-au-lait spots (unilateral), polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune Albright syndrome (mosaic G-protein signaling mutation)

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

A

Kawasaki Disease (treat with IVIG and aspirin)

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22
Q

“Cherry red spots” on macula

A

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

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23
Q

Chest pain on exertion

A

Angina (stable:with moderate exertion; unstable with minimal exertion or at rest)

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24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI Fibrinous pericarditis, 2-12 weeks after acute episode)

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25
Q

Chest pain with ST depressions on EKG

A

Unstable angina (troponins -ve) or NSTEMI (troponins +ve)

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26
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne muscle dystrophy)

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27
Q

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

A

“Slapped cheeks” (erythema infectious/fifth disease: parvoB19)

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington Disease (autosomal dominant CAG repeat expansion)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

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

A

McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)

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31
Q

Cold intolerance

A

Hypothyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral

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33
Q

Continuous “machine-like” murmur

A

PDA (close with indomethacin; open or maintain with PGE analogs)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right-sided cardiac valvular lesions, increase 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

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37
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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38
Q

Dermatitis, Dementia, Diarrhea

A

Pellagra (niacin B3 deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet Beriberi (thiamine B1 deficiency)

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40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

Dry eyes, Dry mouth arthritis

A

Sjögren syndrome (autoimmune destruction of exocrine glands)

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42
Q

Dysphasia (esophageal webs), glossitis, iron deficiency anemia

A

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

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43
Q

Elastic skin, hyper mobility of joint, increase bleeding tendency

A

Ehlers-Danlos syndrome (type v collagen defect, type III collagen defect seen in vascular subtype of ED)

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere Disease

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46
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

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49
Q

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

A

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

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50
Q

Fever, conjunctivitis, cough, coryza, diffuse rash

A

Measles

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51
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Kayser-fleischer rings (copper accumulation from Wilson Disease)

54
Q

Gout, intellectual disability, self mutilating behavior in a boy

A

Leach-Nyhan syndrome (HGPRT deficiency, XR)

55
Q

Hamartomatoue GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

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

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises

A

Gaucher Disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport Disease (mutation in collagen IV)

58
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia, hypertonic, Babinski sign present

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

61
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloaters” (chronic bronchitis: hyperplasia of mucus cells)

62
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis, treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

63
Q

Infant with “cherry red” spot on macula, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick Disease (genetic sphingomyelinase deficiency)

64
Q

Infant with cleft lip/palate, microcephaly or holoproencephaly, polydactyl, cutis aplasia

A

Trisomy 13 Patau Syndrome

65
Q

Infant with hypoglycemia, hpatomegaly

A

Cori Disease (Debranching enzyme deficiency) or

Von Gierke Disease (Glucose-6-phosphatase deficiency, more severe)

66
Q

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

A

Edwards syndrome (trisomy 18)

67
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

68
Q

Large rash with bull’s eye appearance

A

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

69
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

70
Q

Male child, recurrent infections, no mature B cells

A

Bruton Disease (X-linked agammaglobulinemia)

71
Q

Mucosal bleeding and prolonged bleeding time

A

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

72
Q

Muffled heart sound, distended neck veins, hypotension

A

Beck triad of cardiac tamponde

73
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

74
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe Disease (lysosomal a-1,4-glucosidase deficiency)

75
Q

Neonate with arm paralysis following difficult birth

A

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

76
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

77
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

Multiple Sclerosis

78
Q

Painful blue finger/toes, hemolytic anemia

A

Cold agglutinin Disease (autoimmune hemolytic anemia caused my mycoplasma pneumoniae, infectious mononucleosis, CLL)

79
Q

Painful fingers/toes changing color from blue to white to red with cold or stress

A

Raynaud phenomenom (vasospasm in extremities)

80
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler Nodes (infective endocarditis, immune complex deposition)

81
Q

Painless erythematous lesions on palms and soles

A

Jane way lesions (infective endocarditis, septic emboli/ micro abscesses)

82
Q

Painless Jaundice

A

Cancer of pancreatic head obstructing bile duct

83
Q

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

A

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

84
Q

Pancreatic, Pituitary, parathyroid tumors

A

MEN1

85
Q

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

A

Nephrotic syndrome

86
Q

Pink complexion, dyspnea, hyperventilation

A

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

87
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the PCT)

88
Q

Pruritic, purple, polygonal plantar papules and plaques

A

Lichen planus

89
Q

Ptosis, anhidrosis, miosis

A

Horner syndrome (sympathetic chain lesion)

90
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

91
Q

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

A

Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

92
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

93
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

94
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

95
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (children)

96
Q

Red, itchy, swollen rash of nipple/areola

A

Paget Disease of the breast (sign of underlying neoplasm)

97
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

98
Q

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

A

Von Hippel-Lindau Disease (dominant tumor suppressor gene mutation)

99
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

Parkinson Disease (loss of dopaminergic neurons in substantia nigra pars compacta)

100
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

101
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

102
Q

Severe RLQ pain with palpating of LLQ

A

Rovsing sign (acute appendicitis)

103
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

104
Q

Short stature, café au lait spots, thumb/radial defects, increase incidence of tumors/Leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA cross link repair; often progresses to AML)

105
Q

Single palmar crease

A

Down Syndrome

106
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

107
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (e.g., Addison Disease) causes increased ACTH and alpha-MSH production)

108
Q

Slow, progressive muscle weakness in boys

A

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

109
Q

Small, irregular red spots on buccaneers/lingual mucosa with blue-white centers

A

Koplik spots (measles; rubeola virus)

110
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condylomata Alta (secondary syphilis)

111
Q

Splinter hemorrhage in fingernails

A

Bacterial endocarditis

112
Q

Strawberry tongue

A

Scarlet fever, Kawasaki Disease

113
Q

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

A

Turner syndrome (45, XO)

114
Q

Sudden swollen/ painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

115
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

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

116
Q

Swollen, hard,painful finger joints

A

Osteoarthritis (osteophytes on PIP (Bouchard nodes), DIPn(Heberden nodes) )

117
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

118
Q

Telangiectasias, recurrent epistaxis, skin discoloration, ateriovenous malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome

119
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

Men 2A (AD RET mutation)

120
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD RET mutation)

121
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

122
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN 7) palsy; UMN lesions spare the forehead

123
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but associated with sturge-Weber syndrome)

124
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and Bulimic patients)

125
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipped Disease (tropheryma whipplei)

126
Q

Worst headache of my life

A

Subarachnoid hemorrhage

USMLE (18 decks)

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