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Classic Presentations Flashcards

1
Q

abd pain, ascites, hepatosplenomegaly

A

Budd-chiari synd

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2
Q

abd pain, diarrhea, leukocytosis, recent ABx use

A

C diff infection

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3
Q

achilles tendon xanthoma

A

familial hypercholestolerolemia

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4
Q

adrenal hemorrhage, hTN,DIC

A

Waterhous-Friderichsen synd (meningococcemia)

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5
Q

anaphylaxis after blood transfusion

A

IgA deficiency

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6
Q

+ anterior drawer sign

A

ACL injury

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7
Q

archnodactyly, lens dislocation (up), aortic dissection, hyperflexible jnts

A

Marfan synd (fibrillin defect)

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8
Q

athlete w/ polycythemia

A

2o to EPO injection

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9
Q

back pain, fever, night sweats

A

Pott dz (vertebral TB)

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10
Q

bilat acoustic schwannomas

A

neurofibromatosis type 2

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11
Q

bilat hilar adenopathy, uveitis

A

sarcoidosis (non-caseating granulomas)

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12
Q

black eschar on face of person with DKA

A

mucor or rhizopus fungal infection

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13
Q

blue sclera

A

osteogenesis imperfecta (type I 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

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16
Q

bounding pulses, wide pulse P, diastolic heart murmur, head bobbing

A

arotic regurge

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17
Q

butterfly facial rash and raynauds

A

SLE

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18
Q

cafe-au-lait spots, lisch nodules (iris hamartoma), pheochromocytomas, optic gliomas

A

neurofibromatosis type 1

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19
Q

calf pseudohypertrophy

A

muscular dystrophy (usually duchenne - X-linked mutation of dystrophin gene)

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20
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand foot changes

A

Kawasaki dz

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21
Q

cherry-red spots on macula

A

Tay-sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation

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22
Q

chest pain on exertion

A

angina (stable if w/ moderate exertion, unstable if @ minimal or rest)

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23
Q

chest pain, pericardial effusion, persistent fever post MI

A

Dressler syndrome (autoimmune mediated)

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24
Q

chest pain w/ ST depression on EKG

A

unstable angina (-troponins) or NSTEMI (+troponins)

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25
Q

child uses arms to stand from squat

A

duchenne muscular dystrophy (Gower’s sign)

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26
Q

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

A

fifth dz (slapped cheeks, parvovirus B19)

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27
Q

chorea, dementia, caudate degeneration

A

HUntington dz (AutoDom CAG repeat)

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28
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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29
Q

chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle dz (skeletal muscle glycogen phosphorylase def)

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30
Q

cold intolerance

A

hypothyroidism

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31
Q

conjugate horizontal gaze palsy, horizontal diploplia

A

internuclear opthalmoplegia (damage to MLF, uni or bilat)

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32
Q

continuous, machine like murmur

A

PDA

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33
Q

cutaneous/dermal edema due to CT deposition

A

myxedema (hypothyroidism)

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34
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome

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35
Q

dark purple skin/mouth nodules in AIDS pt

A

Kaposi sarcoma, a/w HHV-8

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36
Q

deep labored breathing, hyperventilation

A

DKA (kussmaul respirations)

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37
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin (B3) def)

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38
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beri beri (thiamine (B1) def)

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39
Q

dog/cat bite resulting in infection

A

pasturella multicida

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40
Q

dry eyes, dry mouth, arthritis

A

Sjogrens (autoimmune)

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41
Q

dysphagia, glossitis, iron def anemia

A

Plummer-Vinson synd (may progress to squamous cell carcinoma)

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42
Q

elastic skin, hypermobility of joints, increased bleeding

A

Ehlers Danlos synd (type V collagen defect)

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43
Q

enlarged, hard left supraclavicular node

A

Virchow node (abdominal met)

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44
Q

episodic vertigo, tinnitus, hearing oss

A

Meniere dz

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45
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

mycosis fungoides (cutaneous T-cel lymphoma) ir Sezary synd (mycosis fungoides + malig T cells in blood)

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46
Q

facial muscle spasm when tapping the cheek

A

Chvostek sign (hypocalcemia)

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47
Q

fat, female, forty, fertile

A

cholelithiasis (gallstones)

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48
Q

fever, chills, HA, myalgia, after Tx for syphilis

A

Jarisch-Herxheimer rxn (rapid lysis of spirochetes releases endotoxin)

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49
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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50
Q

fever, night sweats, weight loss

A

B symptoms of lmphoma

TB?

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51
Q

fibrous plaques in soft tissue of penis w/ abnormal curvature

A

peyronie dz (CT d/o)

52
Q

golden brown rings around cornea

A

Wilson dz (Kayser-fleisher rings)

53
Q

gout, intellectual disability, self mutilation in a boy

A

Lesh-Nyhan syndrome (HGPRT def, X-link recessive)

lip biting?

54
Q

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

A

Peutz-Jeghers synd

55
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis

A

Gaucher dz (glucocerebrosidase def)

56
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

57
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy synd (bilat amygdala lesion)

58
Q

hyperreflexia, hypertonia, babinski sign

A

UMN damage

59
Q

hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

60
Q

hypoxemia, polycythemia, hypercapnia

A

chronic bronchitis (blue bloater)

61
Q

indurated, ulcerated genital lesion

A

nonpainful = chancre (primary syphilis, treponema pallidum) painful w/ exudate = chancroid (haemophilus ducreyi)

62
Q

infact w/ cleft lip/palate, micro/holopresencephaly, polydactyly, cutis aplasia

A

patau syndrome (trisomy 13)

63
Q

infact w/ hypoglycemia, hepatomegaly

A 
Cori dz (debranching enzyme def) 
Von Gierke dz (G6PD, more severe)
64
Q

infant w/ microcephaly, rocker-bottom feet, clenched hands, heart defects

A

Edwards synd (trisomy 18)

65
Q

jaundice, palpable distended, non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

66
Q

large rash w/ bullseye

A

erythe,a chronicum migrans (lyme disease, borrelia burgdorferi)

67
Q

lucid interval after traumatic brain injury

A

epidural hematoma (MMA rupture)

68
Q

male child, recurrent infections, no mature B cells

A

Bruton dz (X-linked agammaglobulinemia)

69
Q

mucosal bleeding and prolonged bleeding time

A

g;anzmann thrombasthenia (no GpIIB/IIIa)

70
Q

muffled heart sounds, distended neck veins, hTN

A

cardiac tamponade (Beck’s triad)

71
Q

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

A

Gardner syndrome (subtype of FAP)

72
Q

myopathy (infantile hypertrophic CM), exercise intolerance

A

Pompe dz (lysosomal alpha-1,4-gluconidase def)

73
Q

neonate w/ arm paralysis after birth

A

Erd-Duchenne palsy (superior trunk, C5-C6 brachial plexus injury –> waiters tip hand)

74
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan synd (pit infarction)

75
Q

nystagmus, intention tremor, scanning speech, bilat internuclear opthalmoplegia

76
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin dz (autoimmune hemolytic anemia from mycoplasma pneumoniae, infectious mono, or CLL)

77
Q

painful fingers/toes changing from blue to white to red w/ cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

78
Q

painful, raised red lesions on finger/toe pads

A

osler nodes (infective endocarditis, immune complex deposition)

79
Q

painless erythematous lesions on palms/soles

A

janeway lesions (infective endocarditis, septic emboli/microabscesses)

80
Q

painless jaundice

A

cancer of pancreatic head obstructing bile duct

81
Q

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

A

Henoch-Schonlein purpura (IgA vasculitis affects skin/kidneys)

82
Q

pancreatic, pituitary, and parathyroid tumors

A

MEN 1 (AutoDom)

83
Q

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

A

nephrotic syndrome

84
Q

pink complexion, dyspnea, hyperventilation

A

emphysema (centriacinr (smoking) or panacinar (alpha 1 antitrypsin def))

85
Q

polyuria, RTA type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

fanconi syndrome

86
Q

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

A

lichen planus

87
Q

ptosis, miosis, anhidrosis

A

Horner syndrome (symp chain lesion)

88
Q

pupil accommodates but doesn’t react

A

neurosyphilis (argyll robertson pupils)

89
Q

rapidly progressive limb weakness that ascends following GI/URI

A

Guillain-Barre synd

90
Q

rash on palms and soles

A

coxsackie A
2o syphilis
rocky mountain spotted fever

91
Q

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

A

hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

92
Q

red “current jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

93
Q

red “current jelly” stools

A

acute mesenteric ischemia (adults)

intussusception (kids)

94
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

95
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

96
Q

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

A

von Hippel-Lindau dz, (dom tumor suppressor gene mutation)

97
Q

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

A

parkinson dz (loss of dopa neurons in substantia nigra pars compacta)

98
Q

retinal hemorrhages with pale centers

A

roth spots (bacterial endocarditis)

99
Q

severe jaundice in neonates

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

100
Q

severe RLQ pain w/ palpation of LLQ

A

Rovsing sign (acute appendicitis)

101
Q

severe RLQ pain w/ deep tenderness

A

McBurney sign (acute appendicitis)

102
Q

short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

A

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

103
Q

single palmar crease

A

Down syndrome

104
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener synd (dynein arm defect affecting cilia)

105
Q

skin hyperpigmentation, hTN, fatigue

A

primary adrenocortical insuff (like Addisons) causes increased production of ACTH and MSH

106
Q

slow, progressive muscle weakness in boys

A

becker muscular dystrophy (X-linked missense in dystrophin, less severe than duchenne)

107
Q

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

A

koplik spots (measles)

108
Q

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

A

condylomata lata (2o syphilis)

109
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

110
Q

strawberry tongue

A

scarlet fever

kawasaki dz

111
Q

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

A

Turner synd (45, XO)

112
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra (hyperuricemia)

113
Q

swollen gums, mucosal bleeding, poor wound healing, petichiae

A

scurvy (vit C def: cant hydroxylate proline/lysine for collagen synth)

114
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophytes on PIP = Bouchard nodes; DIP = Heberden nodes)

115
Q

systolic ejection murmur (crescendo decrescendo)

A

aortic stenosis

116
Q

telangiectasias, recurrent epitaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

osler-weber rendu syndrome

117
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AutoDom RET mutation)

118
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AutoDom RET mutation)

119
Q

toe extension w/ plantar scrape

A

Babinski sign (UMN lesion)

120
Q

unilat facial drooping involving forehead

A

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

121
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis a/w HLA-B27

122
Q

vascular birthmark (port wine stain) of the face

A

nevus flammeus (benign but a/w Sturge-Weber synd)

123
Q

vomiting blood following gastroesophageal lacerations

A

mallory-weiss syndrome (alcoholic and bulimic pts)

124
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple dz (tropheryma whipplei)

125
Q

worst headache of my life

A

subarachnoid hemorrhage

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