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Classic Presentations 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)

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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 diessection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

back pain, fever, night sweats

A

Pott disease (TB)

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10
Q

bilateral acoustic schwannoma

A

neurofibromatosis type 2

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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 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 of bone

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16
Q

bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation

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17
Q

butterfly facial rash and Raynaud phenomenon in a young female

A

systemic lupus erythematosus (SLE)

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18
Q

Cafe au lair spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

neurofibromatosis type I, pheochromocytoma, optic gliomas

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19
Q

Cafe au lair spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune Albright syndrome (G protein signaling mutation)

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20
Q

calf pseudohypertrophy

A

muscular dystrophy (usually Duchenne’s)

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21
Q

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

A

Kawasaki disease

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22
Q

cherry red spot 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

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24
Q

chest pain, pericardial effusion/friction rub, persistent fever after MI

A

Dressler syndrome (autoimmune post MI pericarditis)

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25
Q

chest pain with ST depressions on EKG

A

unstable angina (troponin neg) or NSTEMI (troponin pos)

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26
Q

child uses arms to stand up from squat

A

Gowers sign (DMD)

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27
Q

child with fever later develops red rash on face that spread to body

A

‘slapped cheeks’ (erythema infectiosum/fifth disease/parvovirus B19)

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28
Q

corea, dementia, caudate degeneration

A

Huntington disease

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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, uni or bilateral)

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33
Q

continuous machine like murmur

A

PDA

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34
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (from hypothyroidism, Graves)

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35
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome

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36
Q

dark purple skin/mouth nodules in patient with AIDS

A

Kaposi sarcoma

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37
Q

deep labored breathing/hyperventilation

A

Kussmaul respirations (DKA)

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38
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin vit B3 deficiency)

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39
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberit (thiamine vit B1 deficiency)

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40
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis)

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41
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome

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42
Q

dysphagia (eso web), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome

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43
Q

elastic skin, hyper mobility of joints, increase bleeding

A

Ehlers Danlos syndrome (type V collagen defect, type III collagen defect in vascular subtype)

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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 Sezary syndrome (mycosis fungicides and malignant T cells in blood)

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47
Q

facial muscle spasm upon tapping

A

Chvostek sing (hypocalcemia)

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48
Q

fat, female, forty, and fertile

A

cholethisiasis

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49
Q

fever, chills, headache, myalgia after antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction

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50
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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51
Q

fever, night sweats, weight loss

A

B symptoms of lymphoma

52
Q

fibrous plaques in soft tissue to penis with abnormal curvature

A

Peyronie disease (CT disorder)

53
Q

golden brown rings around peripheral cornea

A

Kayser Fleischer rings

54
Q

gout, intellectual disability, self-mutilating behavior in a boy

A

Lesch Nyhan syndrome (HGPRT deficiency, X linked)

55
Q

hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia

A

Peutz Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increase risk cancer usually 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 syndrome (mutation in collagen IV)

58
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilat amygdala lesion)

59
Q

hyperreflexia, hypertonia, Babinski pos

A

UMN lesion

60
Q

hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN lesion

61
Q

hypoxemia, polycythemia, hypercapnia

A

‘blue bloater’ (chronic bronchitis-hyperplasia of mucous cells)

62
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis)

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 holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13)

65
Q

infant with hypoglycemia, hepatomegaly

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 chronic migraines from Ixodes tick bite

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 sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

73
Q

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

A

Gardner syndrome (subtype FAP)

74
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha 1 4 glucosidase deficiency

75
Q

neonate with arm paralysis following a difficult birth

A

Erb Duchenne palsy (superior trunk C5-C6 brachila plexus injury aka waiter’s tip)

76
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pit infarct)

77
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

multiple sclerosis

78
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis, CLL)

79
Q

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

A

Raynaud phenomenon (vasospasm)

80
Q

painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infectious endocarditis, immune complex deposition)

81
Q

painful erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

82
Q

painless jaundice

A

cancer of the pancreatic head obstructing the bile duct

83
Q

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

A

Henoch Scholein purpura (IgA vasculitis affecting skin and kidneys)

84
Q

pancreatic, pituitary, parathyroid tumors

A

MEN I (auto dom)

85
Q

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

A

nephrotic syndrome

86
Q

pink complexion, dyspnea, hyperventilation

A

‘pink puffer’ (emphysema)

87
Q

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

A

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

88
Q

pruritic, purple, polygonal planar papules, and plauqes

A

linchen planus

89
Q

ptosis, miosis, anhidrosis

A

Horner syndrome

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 Barre 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 (noninflammed) 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 patient

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 (bilat), 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

100
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

101
Q

severe jaundice in neonate

A

Crigler Najjar syndrome (congential unconjugated hyperbilirubinemia)

102
Q

severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

103
Q

severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

104
Q

short stature, cafe au lait spots, tumb/radial defects, increase incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA cross link repair, often progresses 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 hyper pigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (Addison’s disease) causes increase 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 DMD)

109
Q

small, irregular red spots on buccal/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 lata (secondary syphilis)

111
Q

splinter hemorrhages 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 (vit C deficiency, can’t hydroxylate proline/lysine for collagen synthesis)

116
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophyes on PIP, DIP)

117
Q

systolic ejection murmur (crescendo-descrescendo)

A

aortic stenosis

118
Q

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

A

Osler Weber Rendu syndrome

119
Q

thyroid and parathyroid tumors, pheochromatoma

A

MEN 2A

120
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B

121
Q

toe extension/fanning upon plantar scrape

A

Babinski sign

122
Q

unilateral facial drooping involving forehead

A

LMN facial nerve palsy (UMN lesion spare forehead)

123
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA B27

124
Q

vascular birthmark (port wine stain of face)

A

nevus flammeus (benign but ass with Sturge Weber syndrome)

125
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (in alcoholics and bulimics)

126
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

127
Q

worst headache of my life

A

subarachnoid hemorrhage

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