classic presentations Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

budd-chiari syndorme (poshepatic venous thrombosis)

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2
Q

abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

clostridium difficili infection

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3
Q

achilles tendon xanthoma

A

familial hypercholesterolemia

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4
Q

adrenal hemorrhage, hypotension, DIC

A

waterhouse-friderichsen syndrome

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5
Q

anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

anterior drawer sign positive

A

anterior cruciate ligament injury

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7
Q

arachnodactylyl, lens dislocation upward, aortic dissection, hyperflexible joints

A

marfan syndrome

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8
Q

athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

back pain, fever, night seats

A

pots disease (vertebral TB)

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10
Q

bilateral acoustic schwannomas

A

neurofibromatosis type 2

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11
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis

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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 (incr osteoblast and clast activity)

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16
Q

bounding pulses, wide pulse pressure, diastolic heart 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

cafe-au-alit spots (U/L), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

mccune-albright syndrome (mosaic G-protein signaling mutation)

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19
Q

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

A

kawasaki disease

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20
Q

cherry red spots on macula

A

tay-sacks or niemann-pick, central retinal artery occlusion

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21
Q

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

A

dressler syndrome

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22
Q

child uses arms to stand up from squat

A

duchenne muscular dystrophy (towers sign)

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23
Q

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

A

erythema infectiosum/fifth disease (caused by parvovirus B19)

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24
Q

chorea, dementia, caudate degen

A

huntington disease

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25
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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26
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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27
Q

cold intolerance

A

hypothyroidism

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28
Q

conjugate horizontal gaze palsy, horizontal diplopia

A

internuclear ophthalmoplegia

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29
Q

continous machine like heart murmur

A

PDA

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30
Q

cutaneous/derma edema due to connective tissue deposition

A

myxedema (d/t hypothyroid, graves); usually pretibial

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31
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome

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32
Q

dark purple skin/mouth nodules patient with AIDS

A

KAPOSI sarcoma

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33
Q

deep, labored breathing/hyperventilation

A

diabetic ketoacidosis (kussmaul respirations)

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34
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin deficiency)

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35
Q

dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

wet beriberi (thiamine deficiency)

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36
Q

dry eyes, dry mouth, arthritis

A

sjogren syndrome (autoimmune destruciton of exocrine glands)

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37
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

plummer-vinson syndrome

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38
Q

enlarged, hard left supraclavicular node

A

virchow node (abdominal metastasis)

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39
Q

episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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40
Q

erythrooderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

mycosis fungicides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis + malignant T cells in blood)

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41
Q

facial muscle spasm upon tapping

A

chvostek sign (hypocalcemia)

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42
Q

fat, female, forty, and fertile

A

cholelithiasis (gallstones)

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43
Q

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

A

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

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44
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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45
Q

fever, night sweats, weight loss

A

B symptoms of lymphoma

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46
Q

fibrous places in soft tissue of penis with abnormal curvature

A

peyronie disease (connective tissue disorder)

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47
Q

golden brown rings around peripheral cornea

A

wilson disease

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48
Q

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

A

Lesch-nyhan syndrome (HGPRT deficiency)

49
Q

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

A

peutz-Jeghers syndrome (inherited, benign polyposis)

50
Q

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

A

gaucher disease

51
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

alport syndrome (type IV collagen defect)

52
Q

hyperphagia, hyper sexuality, hyperorality, hyperdociliy

A

kluver-bucy syndrome (B/L amygdala lesion)

53
Q

hyperreflexia, hypertonia, babinski sing present

A

UMN damage

54
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

55
Q

hypoxemia, polycythemia, hypercapnia

A

chronic bronchitis

56
Q

infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

patau syndrome (trisomy 13)

57
Q

infect with hypoglycemia, hepatomegaly

A

cori disease (debranching enzyme def) or von gierke disease (G6PD def)

58
Q

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

A

edwards syndrome (trisomy 18)

59
Q

jaundice, palpable distended non-tender gallbladder

A

courvoisier sign (distal malignant obstruction of biliary tree)

60
Q

lucid interval after traumatic brain injury

A

epidural hematoma

61
Q

male child, recurrent infections, no mature B cells

A

bruton disease (X-linked agammaglobulinemia)

62
Q

mucosal bleeding and prolonged bleeding time

A

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

63
Q

muffled heart sounds, distended neck veins, hypotension

A

beck triad of cardiac tamponade

64
Q

multiple colon polyps, osteomas/soft tissue tumors, impacted/sup/ernumerary teeth

A

gardner syndrome (Subtype of FAP)

65
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

pompe disease (alpha 1,4 glucosidase def)

66
Q

no lactation postpartum, absent menstruation, cold intolerance

A

sheehan syndrome

67
Q

nystagmus, intention tremor, scanning speech, B/L internuclear ophthalmoplegia

A

multiple sclerosis

68
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolysis d/t M. pneumonia, IM, or CLL)

69
Q

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

A

raynaud phenomenon

70
Q

painful, raised red lesions on pads of fingers/toes

A

osler nodes

71
Q

painless erythematous lesions on palms and soles

A

janeway lesion

72
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

73
Q

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

A

henoch-schonlein purpurn (IgA vasculitis)

74
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1

75
Q

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

A

nephrotic syndrome

76
Q

pink complexion, dyspnea, hyperventilation

A

emphysema or alpha 1 antitrypsin def

77
Q

polyuria, renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi snydorme (multiple combined dysfunction of prox convoluted tubule)

78
Q

pruritus purple, polygonal planar papules and plaques

A

lichen planus

79
Q

ptosis, mitosis, anhidrosis

A

horner syndrome

80
Q

pupil accommodates but doesn’t react

A

neurosyphilis (argyll robertson pupil)

81
Q

rapidly progressive limb weakness that ascends following GI/URI

A

guillain-barre syndrome

82
Q

rash on palms and soles

A

coxsachie A, secondary syphilis, rocky mountain spotted fever

83
Q

recurrent cold (non inflamed) abscesses, unusual eczema, high serum IgE

A

hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

84
Q

red currant jelly sputum in alcoholics or diabetics

A

klebsiella pneumoniae pneumonia

85
Q

red currant jelly stools

A

acute mesenteric ischemia (adults), intussusception (children)

86
Q

red, itchy, swollen rash of nipple/areola

A

paget disease of breast

87
Q

red urine in morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

88
Q

renal cell carcinoma (B/L), hemangioblastomas, angiomatosis, pheochromocytoma

A

von hippel landau disease

89
Q

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

A

parkinson disease

90
Q

retinal hemorrhages with pale centers

A

roth spots (bacterial endocarditis)

91
Q

severe jaundice in neonates

A

crigler-najjar syndrome

92
Q

several RLQ pain with palpation of LLQ

A

rovsing sign

93
Q

short stature, cafe au late spots, thumb/radial defects, increased incidence of tumors/leukemias, aplastic anemia

A

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

94
Q

single palmar crease

A

down syndrome

95
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

kartagener syndrome (dynein arm defect affecting cilia)

96
Q

skin hyperpigmenation, hypotension, fatigue

A

primary adrenocortical insufficiency (Addison’s) (incr ACTH and alpha-MSH)

97
Q

slow, progressive muscle weakness in boys

A

Becker muscular dystrophy

98
Q

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

A

koplike spots

99
Q

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

A

condylomata lata (secondary syphilis)

100
Q

spilinter hemorrhages in fingernails

A

bacterial endocarditis

101
Q

strawberry tongue

A

scarlet fever, kawasaki disease

102
Q

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

A

turner syndrome

103
Q

sudden swollen/painful big toe joint, tophi

A

gout

104
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (can’t hydroxylate proline/lysin for collagen)

105
Q

swollen, hard, painful finger joints

A

osteoarthritis

106
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

107
Q

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

A

Osler-Weber-Rendu-sydrome

108
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (RET mutation)

109
Q

thyroid tumors, pheochromocytomas, ganglioneuromatosis

A

MEN 2B (RET mutation)

110
Q

toe extension/fanning upon plantar scrap

A

babinski sign

111
Q

urethritis, conjunctivitis, arthritis in male

A

reactive arthritis associated with HLA-B27

112
Q

vascular birthmark (pot wine stain) on face

A

nevus flames

113
Q

vomiting blood following gastroesophageal lacerations

A

mallory-weiss syndrome (alcoholic and bulimic patients)

114
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

whipple disease (d/t T. whipplei infection)

115
Q

worst headache of my life

A

subarachnoid hemorrhage

116
Q

Calf pseudohypertrophy

A

muscular dystrophy (duchenne)

117
Q

Elastic skin, hyper-mobility of joints, increased bleeding

A

Ehlers-Danlos (type V defect, III in vascular type)

118
Q

Indurated, ulcerated genital lesion

A

painless: primary syphilis

painful w/exudate: H. ducreyi

119
Q

Neonate with arm paralysis following difficult birth

A

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