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USMLE Step 1 > Classic Presentations > Flashcards

Classic Presentations Flashcards

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USMLE® Step 1 flashcards
1
Q

Presentation:
Abdominal pain, ascites, hepatomegaly.

Diagnosis?

A

Budd-Chiari syndrome (post-hepatic venous thrombosis)

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2
Q

Presentation:
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use.

Diagnosis?

A

Clostridium difficile infection

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3
Q

Presentation:
Achilles tendon xanthoma.

Diagnosis?

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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4
Q

Presentation:
Adrenal hemorrhage, hypotension, DIC.

Diagnosis?

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

Presentation:
Anaphylaxis following blood transfusion.

Diagnosis?

A

IgA deficiency

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6
Q

Presentation:
Anterior “drawer sign”.

Diagnosis?

A

ACL injury

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7
Q

Presentation:
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints.

Diagnosis?

A

Marfan syndrome (fibrillin defect)

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8
Q

Presentation:
Athlete with polycythemia.

Diagnosis?

A

Secondary to Epo injection

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9
Q

Presentation:
Back pain, fever, night sweats.

Diagnosis?

A

Post disease (vertebral TB)

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10
Q

Presentation:
Bilateral acoustic schwannomas.

Diagnosis?

A

Neurofibromatosis type 2

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11
Q

Presentation:
Bilateral hilar adenopathy, uveitis.

Diagnosis?

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Presentation:
Black eschar on face of patient with diabetic ketoacidosis.

Diagnosis?

A

Mucor or Rhizopus fungal infection

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13
Q

Presentation:
Blue sclera.

Diagnosis?

A

Osteogenesis imperfecta (type I collagen defect)

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14
Q

Presentation:
Bluish line on gingiva.

Diagnosis?

A

Burton line (lead poisoning)

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15
Q

Presentation:
Bone pain, bone enlargement, arthritis.

Diagnosis?

A

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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16
Q

Presentation:
Bounding pulses, diastolic heart murmur, head bobbing.

Diagnosis?

A

Aortic regurgitation

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17
Q

Presentation:
“Butterfly” facial rash and Reynaud phenomenon in young female.

Diagnosis?

A

SLE

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18
Q

Presentation:
Café-au-lait spots, Lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas.

Diagnosis?

A

Neurofibromatosis type 1
Pheochromocytoma
Optic gliomas

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19
Q

Presentation:
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities.

Diagnosis?

A

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

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20
Q

Presentation:
Calf pseudo-hypertrophy.

Diagnosis?

A

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

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21
Q

Presentation:
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue.

Diagnosis?

A

Kawasaki disease (treat with IVIG and aspirin)

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22
Q

Presentation:
“Cherry-red spots” on macula.

Diagnosis?

A

Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion

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23
Q

Presentation:
Chest pain on exertion.

Diagnosis?

A

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

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24
Q

Presentation:
Chest pain, pericardial effusion, friction rub, persistant fever following MI.

Diagnosis?

A

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

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25
Q

Presentation:
Chest pain with ST depressions on EKG.

Diagnosis?

A

Troponin negative: Unstable angina

Troponin positive: NSTEMI

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26
Q

Presentation:
Child uses arms to stand up from squat.

Diagnosis?

A

Gowers sign (Duchenne muscular dystrophy)

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27
Q

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

Diagnosis?

A

Parvovirus B19 infection (“slapped cheeks”)

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28
Q

Presentation:
Chorea, dementia, caudate degeneration.

Diagnosis?

A

Huntington disease (autosomal dominant CAG repeat expansion)

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29
Q

Presentation:
Chorioretinitis, hydrocephalus, intracranial calcifications.

Diagnosis?

A

Congenital toxoplasmosis

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30
Q

Presentation:
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria.

Diagnosis?

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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31
Q

Presentation:
Cold intolerance.

Diagnosis?

A

Hypothyroidism

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32
Q

Presentation:
Conjugate horizontal gaze palsy, horizontal diplopia.

Diagnosis?

A

Internuclear ophthalmoplegia (damage to MLF)

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33
Q

Presentation:
Continuous “machine-like” heart murmur.

Diagnosis?

A

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

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34
Q

Presentation:
Cutaneous/dermal edema due to connective tissue deposition.

Diagnosis?

A

Myxedema (caused by hypothyroidism, Graves disease)

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35
Q

Presentation:
Cutaneous flushing, diarrhea, bronchospasm.

Diagnosis?

A

Carcinoid syndrome (R-sided cardiac valvular lesions, increased 5-HIAA)

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36
Q

Presentation:
Dark purple skin/mouth modules in a patient with AIDS.

Diagnosis?

A

Kaposi sarcoma (associated with HHV-8)

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37
Q

Presentation:
Deep, labored breathing/hyperventilation.

Diagnosis?

A

Kussmaul respirations (diabetic ketoacidosis)

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38
Q

Presentation:
Dermatitis, dementia, diarrhea.

Diagnosis?

A

Pellagra (niacin deficiency)

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39
Q

Presentation:
Dilated cardiomyopathy, edema, alcoholism or malnutrition.

Diagnosis?

A

Wet beriberi (thiamine deficiency)

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40
Q

Presentation:
Dog or cat bite resulting in infection.

Diagnosis?

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

Presentation:
Dry eyes, dry mouth, arthritis.

Diagnosis?

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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42
Q

Presentation:
Dysphagia (esophageal webs), glossitis, iron deficiency anemia.

Diagnosis?

A

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

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43
Q

Presentation:
Elastic skin, hypermobility of joints, increased bleeding tendency.

Diagnosis?

A

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

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44
Q

Presentation:
Enlarged, hard L supraclavicular node.

Diagnosis?

A

Virchow node (abdominal metastasis)

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45
Q

Presentation:
Episodic vertigo, tinnitus, hearing loss.

Diagnosis?

A

Meniere disease

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46
Q

Presentation:
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells.

Diagnosis?

A 
Mycosis fungoides (cutaneous T-cell lymphoma)
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
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47
Q

Presentation:
Facial muscle spasm upon tapping.

Diagnosis?

A

Chvostek sign (hypocalcemia)

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48
Q

Presentation:
Fat, female, forty and fertile.

Diagnosis?

A

Cholelithiasis (gallstones)

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49
Q

Presentation:
Fever, chills, headache, myalgia following antibiotic treatment for syphilis.

Diagnosis?

A

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

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50
Q

Presentation:
Fever, cough, conjunctivitis, coryza, diffuse rash.

Diagnosis?

A

Measles

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51
Q

Presentation:
Fever, night sweats, weight loss.

Diagnosis?

A

B symptoms (staging) of lymphoma

52
Q

Presentation:
Fibrous plaques in soft tissue of penis with abnormal curvature.

Diagnosis?

A

Peyronie disease (connective tissue disorder)

53
Q

Presentation:
Golden brown rings around peripheral cornea.

Diagnosis?

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

54
Q

Presentation:
Gout, intellectual disability, self-mutilating behavior in a boy.

Diagnosis?

A

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

55
Q

Presentation:
Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands, genitalia.

Diagnosis?

A

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

56
Q

Presentation:
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises.

Diagnosis?

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Presentation:
Hereditary nephritis, sensorineural hearing loss, cataracts.

Diagnosis?

A

Alport syndrome (mutation in type IV collagen)

58
Q

Presentation:
Hyperphagia, hypersexuality, hyperorality, hyperdocility.

Diagnosis?

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Presentation:
Hyperreflexia, hypertonia, Babinski sign present.

Diagnosis?

A

UMN damage

60
Q

Presentation:
Hyporeflexia, hypotonia, atrophy, fasciculations.

Diagnosis?

A

LMN damage

61
Q

Presentation:
Hypoxemia, polycythemia, hypercapnia.

Diagnosis?

A

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

62
Q

Presentation:
Indurated, ulcerated genital lesion.

Diagnosis?

A

Non-painful chancre: Syphilis (primary)

Painful, with exudate: Chancroid

63
Q

Presentation:
Infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration.

Diagnosis?

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

64
Q

Presentation:
Infant with cleft palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia.

Diagnosis?

A

Patau syndrome (trisomy 13)

65
Q

Presentation:
Infant with hypoglycemia, hepatomegaly.

Diagnosis?

A 
Cori disease (debranching enzyme deficiency)
Von Gierke disease (G6Pase deficiency)
66
Q

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

Diagnosis?

A

Edwards syndrome (trisomy 18)

67
Q

Presentation:
Jaundice, palpable distended non-tender gallbladder.

Diagnosis?

A

Courvoisier sign (distal obstruction of biliary tree)

68
Q

Presentation:
Large rash with bull’s-eye appearance.

Diagnosis?

A

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

69
Q

Presentation:
Lucid interval after traumatic brain injury.

Diagnosis?

A

Epidural hematoma (middle meningeal artery rupture)

70
Q

Presentation:
Male child, recurrent infections, no mature B cells.

Diagnosis?

A

Bruton disease (X-linked recessive agammaglobulinemia)

71
Q

Presentation:
Mucosal bleeding and prolonged bleeding time.

Diagnosis?

A

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

72
Q

Presentation:
Muffled heart sounds, distended neck veins, hypotension.

Diagnosis?

A

Beck triad of cardiac tamponade

73
Q

Presentation:
Multiple colon polyps, osteomas, soft tissue tumors, impacted or supernumerary teeth.

Diagnosis?

A

Gardner syndrome (subtype of FAP)

74
Q

Presentation:
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance.

Diagnosis?

A

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

75
Q

Presentation:
Neonate with arm paralysis following difficult birth.

Diagnosis?

A

Erb-Duchenne palsy (superior trunk [C5-6] brachial plexus injury)

76
Q

Presentation:
No lactation postpartum, absent menstruation, cold intolerance.

Diagnosis?

A

Sheehan syndrome (pituitary infarction)

77
Q

Presentation:
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia.

Diagnosis?

A

Multiple sclerosis

78
Q

Presentation:
Painful blue fingers or toes, hemolytic anemia.

Diagnosis?

A

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

79
Q

Presentation:
Painful fingers or toes changing color from blue to white to red with cold or stress.

Diagnosis?

A

Raynaud phenomenon (vasospasm in extremities)

80
Q

Presentation:
Painful, raised red lesions on pads of fingers or toes.

Diagnosis?

A

Osler nodes (infective endocarditis, immune complex deposition)

81
Q

Presentation:
Painless erythematous lesions on palms and soles.

Diagnosis?

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

82
Q

Presentation:
Painless jaundice.

Diagnosis?

A

Cancer of the pancreatic head, obstructing bile duct

83
Q

Presentation:
Palpable purpura on buttocks or legs, joint pain, abdominal pain (child), hematuria).

Diagnosis?

A

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

84
Q

Presentation:
Pancreatic, pituitary, parathyroid tumors.

Diagnosis?

A

MEN 1 (autosomal dominant)

85
Q

Presentation:
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia.

Diagnosis?

A

Nephrotic syndrome

86
Q

Presentation:
Pink complexion, dyspnea, hyperventilation.

Diagnosis?

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])

87
Q

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

Diagnosis?

A

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

88
Q

Presentation:
Pruritic, purple, polygonal planar papules and plaques.

Diagnosis?

A

Lichen planus

89
Q

Presentation:
Ptosis, miosis, anhidrosis.

Diagnosis?

A

Horner syndrome (sympathetic chain lesion)

90
Q

Presentation:
Pupil accommodates but doesn’t react.

Diagnosis?

A

Argyll Robertson pupil (neurosyphilis)

91
Q

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

Diagnosis?

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

92
Q

Presentation:
Rash on palms and soles.

Diagnosis?

A

Coxsackie A
Syphilis (secondary)
Rocky Mountain spotted fever

93
Q 
Presentation:
Recurrent cold (non-inflamed) abscesses, unusual eczema, high serum IgE.

Diagnosis?

A

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

94
Q

Presentation:
Red “currant jelly” sputum in alcoholic or diabetic patients.

Diagnosis?

A

Klebsiella pneumoniae pneumonia

95
Q

Presentation:
Red “currant jelly” stools.

Diagnosis?

A

Acute mesenteric ischemia (adults)

Intussusception (children)

96
Q

Presentation:
Red, itchy, swollen rash of nipple or areola.

Diagnosis?

A

Paget disease of the breast (sign of underlying neoplasm)

97
Q

Presentation:
Red urine in the morning, fragile RBCs.

Diagnosis?

A

Paroxysmal nocturnal hemoglobinuria

98
Q

Presentation:
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma.

Diagnosis?

A

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

99
Q

Presentation:
Resting tremor, rigidity, akinesia, postural instability, shuffling gait.

Diagnosis?

A

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

100
Q

Presentation:
Retinal hemorrhages with pale centers.

Diagnosis?

A

Roth spots (bacterial endocarditis)

101
Q

Presentation:
Severe jaundice in neonate.

Diagnosis?

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

102
Q

Presentation:
Severe RLQ pain with palpation of LLQ.

Diagnosis?

A

Rovsing sign (acute appendicitis)

103
Q

Presentation:
Severe RLQ pain with rebound tenderness.

Diagnosis?

A

McBurney sign (acute appendicitis)

104
Q

Presentation:
Short stature, cafe-au-lait spots, thumb or radial defects, increased incidence of tumors or leukemia, aplastic anemia.

Diagnosis?

A

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

105
Q

Presentation:
Single palmar crease.

Diagnosis?

A

Down syndrome

106
Q

Presentation:
Situs inversus, chronic sinusitis, bronchiectasis, infertility.

Diagnosis?

A

Kartagener syndrome (dynein arm defect affecting cilia)

107
Q

Presentation:
Skin hyperpigmentation, hypotension, fatigue.

Diagnosis?

A

Addison disease (primary adrenocortical insufficiency causes increased ACTH and α-MSH production)

108
Q

Presentation:
Slow, progressive muscle weakness in boys.

Diagnosis?

A

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

109
Q

Presentation:
Small, irregular red spots on buccal or lingual mucosa with blue-white spots.

Diagnosis?

A

Koplik spots (measles; rubeola virus)

110
Q

Presentation:
Smooth, moist, painless, wart-like white lesions on genitals.

Diagnosis?

A

Condylomata lata (secondary syphilis)

111
Q

Presentation:
Splinter hemorrhages in fingernails.

Diagnosis?

A

Bacterial endocarditis

112
Q

Presentation:
“Strawberry tongue”

Diagnosis?

A

Scarlet fever

Kawasaki disease

113
Q

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

Diagnosis?

A

Turner syndrome (45, XO)

114
Q

Presentation:
Sudden swollen, painful big toe joint, tophi.

Diagnosis?

A

Gout (hyperuricemia)

115
Q

Presentation:
Swollen gums, mucosal bleeding, poor wound healing, petechiae.

Diagnosis?

A

Scurvy (vitamin C deficiency)

116
Q

Presentation:
Swollen, hard, painful finger joints.

Diagnosis?

A

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

117
Q

Presentation:
Systolic ejection murmur (crescendo-decrescendo).

Diagnosis?

A

Aortic stenosis

118
Q

Presentation:
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformation, GI bleeding, hematuria.

Diagnosis?

A

Osler-Weber-Rendu syndrome

119
Q

Presentation:
Thyroid and parathyroid tumors, pheochromocytoma.

Diagnosis?

A

MEN 2A (autosomal dominant RET mutation)

120
Q

Presentation:
Thyroid tumors, pheochromocytoma, ganglioneuromatosis.

Diagnosis?

A

MEN 2B (autosomal dominant RET mutation)

121
Q

Presentation:
Toe extension or fanning upon plantar scrape.

Diagnosis?

A

Babinski sign (UMN lesion)

122
Q

Presentation:
Unilateral facial drooping involving forehead.

Diagnosis?

A

LMN facial nerve palsy

123
Q

Presentation:
Urethritis, conjunctivitis, arthritis in a male.

Diagnosis?

A

Reactive arthritis associated with HLA-B27

124
Q 
Presentation:
Vascular birthmark (port-wine stain) of the face.

Diagnosis?

A

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

125
Q

Presentation:
Vomiting blood following gastroesophageal lacerations.

Diagnosis?

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

126
Q

Presentation:
Weight loss, diarrhea, arthritis, fever, adenopathy.

Diagnosis?

A

Whipple disease (Tropheryma whipplei infection)

127
Q

Presentation:
“Worst headache of my life”.

Diagnosis?

A

Subarachnoid hemorrhage

USMLE Step 1 (4 decks)

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