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FA Step 1 Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Ab pain, ascites, hepatomegaly

A

Budd Chiari Syndrome (posthepatic venous thrombosis)

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2
Q

Achilles tendon xanthoma

A

IIa familial hypercholesterolemia (lo LDLR)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen 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

EPO injections

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease

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7
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (nc granulomas)

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8
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen)

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9
Q

Bluish line on gingiva

A

Burton’s line (Pb poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of bone

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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, Raynaud’s phenomenon in a young female

A

SLE

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13
Q

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

A

NF-1 (+pheo, optic gliomas)

NF-2 (+bilateral acoustic neuromas)

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14
Q

Cafe-au-lait spots, polyostic fibrous dysplasia, precocious puberty

A

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

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15
Q

Calf pseudohypertrophy

A

Muscular dystrophy (DMD most often)

DMD: X linked deletion of dystrophin gene

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16
Q

Cherry red spot on macula

A

Tay-Sachs (ganglioside accum)
Niemann-Pick (sphingomyelin accum)

central retinal artery occlusion

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17
Q

Chest pain only on exertion

A

Stable angina

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18
Q

Chest pain, pericardial effusion/friction rub, persistent fever post-MI

A

Dressler syndrome (Ab vs pericardium, usually >4 weeks)

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19
Q

Child uses arms to stand up from squat/sitting

A

Gower’s sign (DMD)

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20
Q

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

A

Slapped cheek fever (aka fifth dz; Parvovirus B19)

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (AD, CAG repeat)

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22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficient)

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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 (MLF dmg: bilateral= MS, unilateral= stroke)

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25
Q

Continuous machine like murmur

A

PDA

Indomethacin=closes
Misoprostol (PGE1)= keeps open

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26
Q

Dermal edema due to CT deposition

A

Myxedema (hypothyroid, Grave’s: pretibial)

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS pts, assoc 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, diarrhea

A

Pellagra (niacin/B3 def)

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30
Q

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi (thiamine/B1 def)

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31
Q

Dog/cat bite infection

A

Pasteurella multocida (cellulitis @ site)

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32
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome

autoimmune destruction of exocrine glands

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33
Q

Dysphagia (esoph webs), glossitis, microcytic anemia

A

Plummer Vinson syndrome

Fe deficient, may become Sq Cell CA

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34
Q

Elastic skin, hypermobile joints

A

Ehlers-Danlos syndrome (type III collagen)

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35
Q

Enlarged, hard supraclavicular node

A

Virchow’s node (ab mets)

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36
Q

Erythroderma, LAD, HSM, atypical T cells

A

Sezary syndrome (cutaneous T cell lymphoma)

or Mycosis fungoides

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37
Q

Facial muscle spasm upon tapping

A

Chovstek’s sign (hypoCa)

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38
Q

Fat, fourty, female, and fertile

A

Risks for acute cholelithiasis (bile duct block)

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39
Q

Fever, chills, headache, myalgia after antibiotic tx for Syphilis

A

Jarisch-Herxheimer rxn (toxin release from spirochetes)

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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 (lymphoma)

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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (CT disorder)

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43
Q

Gout, MR, self-mutilating behavior in boy

A

Lesch-Nyhan syndrome

HGPRT def, X linked recessive

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44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings

Cu accum in Wilson’s

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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

genetic benign polyposis can cause bowel obstruction, incr cancer risk

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46
Q

HSM, osteoporosis, neurologic symptoms

A

Gaucher’s disease

glucocerebrosidase def

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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome

a-chain mutation in type IV collagen

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48
Q

Hypercoagulability, migrating DVTs and vasculitis

A

Trousseau’s syndrome

adenocarcinoma of pancreas or lung

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49
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome

bilateral amygdala lesion

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50
Q

Hyperreflexia, hypertonia, + Babinski

A

upper motor neuron dmg

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51
Q

HTN, hypoK, metabolic alkalosis

A

Conn’s syndrome

52
Q

Hyporeflexia, hypotonia, atrophy

A

lower motor neuron dmg

53
Q

Hypoxemia, polycythemia, hypercapnia

A

blue bloater (chronic bronchitis; hyperplastic mucus cells)

54
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (syphilis, T. pallidum)

Painful with exudate: chancroid (H. ducreyi)

55
Q

Infant with failure to thrive, HSM, neurodegeneration

A

Niemann-Pick dz

genetic sphingomyelinase deficiency

56
Q

Infant with hypoglycemia, failure to thrive, hepatomegaly

A

Cori’s disease

debranching enzyme deficiency

57
Q

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

A

Edward’s syndrome (trisomy 18)

58
Q

Keratin pearls on a skin biopsy

A

Squamous cell CA

59
Q

Bull’s eye rash

A

erythema chronicum migrans

from Ixodes tick (Lyme)

60
Q

Lucid interval after TBI

A

Epidural hematoma (usually MMA rupture)

61
Q

Male child with recurrent infections, no mature B cells

A

Bruton’s X linked agammaglobinemia

62
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia

lack GP IIb/IIIa

63
Q

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

A

Gardner’s syndrome

type of FAP

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease

lysosomal a-1,4-glucosidase deficiency

65
Q

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

Wegener’s granulomatosis (c-ANCA +)

or Goodpasture’s (anti-collagen IV in GBM)

66
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy

C5-C6, waiter’s tip

67
Q

No lactation post-partem, amenorrhea, cold intolerance

A

Sheehan syndrome (pituitary infarct)

68
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

MS

69
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations

central apnea in CHF or hi ICP

70
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease

autoimmune from Myco pnemo, infectious mono

71
Q

Painful, pale, cold digits

A

Raynaud’s syndrome (vasospasm)

72
Q

Painful, raised red lesions on palms and soles

A

Osler’s nodes (infective endocarditis)

73
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

74
Q

Painless jaundice

A

cancer of pancreatic head blocking bile duct

75
Q

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

A

Henoch-Schonlein purpura

IgA vasculitis, skin+kidneys

76
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN I (AD)

77
Q

Pink complexion, dyspnea, hyperventilation

A

Pink puffer (EMPHYSEMA: centroacinar=smoking, panacinar=A1A)

78
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (PCT resorption defect)

79
Q

+ anterior drawer sign

A

ACL tear

80
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome

symp chain lesion

81
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

aka Prostitute’s pupil

82
Q

Rapidly progressing ascending leg weakness (following GI/URT infection)

A

Guillain-Barre syndrome

demyelinating, molecular mimicry

83
Q

Rash on palms and soles

A

Coxsackie A, 2 syphilis, RMSF

84
Q

Recurrent colds, unusual eczema, hi serum IgE

A

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

85
Q

Currant jelly sputum in alcoholic or diabetic

A

Klebsiella pneumoniae

86
Q

Red, itchy, swollen rash of nipples/areolae

A

Paget’s dz of breast (underlying neoplasm)

87
Q

Red urine in MORNING, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

due to physiologic resp acidosis @ night

88
Q

Bilateral renal cell CA, hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease

dominant tumor suppressor gene mutation

89
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease

nigrostriatal DA depletion

90
Q

Retinal hemorrhage with pale centers

A

Roth spots (infective endocarditis)

91
Q

Severe jaundice in neonate

A

Crigler-Najjar

defect or absent UDP-GT; hi UCB

92
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

93
Q

Short, hi incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s anemia

genetic loss of DNA crosslink repair, often moves to AML

94
Q

Single palm crease

A

simian crease (trisomy 21)

95
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome

dynein arm defect affecting cilia

96
Q

Skin hyperpigmentation

A

Addison’s disease

primary adrenal insufficiency, hi POMC

97
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (X linked, missense of dystrophin)

98
Q

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

A

Koplik spots (measles; rubeola virus)

99
Q

Smooth, flat, moist white lesions on genitals

A

Condylomata lata (2 syphilis)

100
Q

Splinter hemorrhages in fingernails

A

bacterial endocarditis

101
Q

Strawberry tongue

A

scarlet fever, Kawasaki dz, toxic shock syndrome

102
Q

Streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma @ birth

A

Turner syndrome

45 XO, short, web neck, broad chest

103
Q

Sudden swollen/painful big toe, typhi

A

gout/podagra (hyperuricemia)

104
Q

Swollen gums, mucous bleeding, poor wound healing, spots on skin

A

Scurvy (vitC deficient, can’t hydroxylate pro or lys)

105
Q

Swollen, hard, painful finger joints

A

Osteoarthritis

PIP: Bouchard’s, DIP: Heberden’s

106
Q

Systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

107
Q

Thyroid, parathyroid, pheochromocytoma tumors

A

MEN 2A

AD; ret mutation

108
Q

Thyroid, pheo, ganglioneuromatosis

A

MEN 2B

AD; ret mutation

109
Q

Toe extension/fannion upon plantar scrape

A

+ Babinski sign (UMN lesion)

110
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (LMN CN VII palsy)

111
Q

Urethritis, conjunctivitis, arthritis in male

A

reactive arthritis associated with HLA-B27

112
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign, but assoc with Sturge Weber syndrome)

113
Q

Vomiting blood following esophagogastric lacerations

A

Mallory Weiss syndrome (alcoholic and bulemics)

114
Q

Waxy casts with very low urine flow

A

chronic end-stage renal disease

115
Q

WBC cast in urine

A

acute pyelonephritis

116
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whippelii)

117
Q

Worst headache of my life

A

subarachnoid hemorrhage

118
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (LMN CN VII palsy)

119
Q

Urethritis, conjunctivitis, arthritis in male

A

reactive arthritis associated with HLA-B27

120
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign, but assoc with Sturge Weber syndrome)

121
Q

Vomiting blood following esophagogastric lacerations

A

Mallory Weiss syndrome (alcoholic and bulemics)

122
Q

Waxy casts with very low urine flow

A

chronic end-stage renal disease

123
Q

WBC cast in urine

A

acute pyelonephritis

124
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whippelii)

125
Q

Worst headache of my life

A

subarachnoid hemorrhage

FA Step 1 Rapid Review (4 decks)

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