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Boards Fast Facts > Classic Presentation > Flashcards

Classic Presentation Flashcards

1
Q

abdominal pain, ascites, hepatosplenomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C. Diff infection

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3
Q

achilles tendon xanthoma

A

familial hypercholesterolemia (low LDL receptor signaling)

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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

ACL tear

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7
Q

arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

athlete with polycythemia

A

EPO injection

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9
Q

back pain, fever, night sweats

A

Pott 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 (noncaseating granuloma)

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12
Q

black eschar on face of patient is diabetic ketoacidosis

A

mucor or rhizopus fungal infections

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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

Pagets disease of bone (increase osteoclast/blast activity)

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16
Q

bounding pulses, wide pulse pressure, diastolic murmur, head bobbing

A

aortic regurgitation

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17
Q

butterfly facial rash and Raynaud in young female

A

lupus

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18
Q

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

A

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

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19
Q

calf pseudophypertrophy

A

muscular dystrophy (usually Duchenne, due to X linked frameshift of dystrophin gene)

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20
Q

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

A

Kawasaki disease (treat with IVIG and aspirin)

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21
Q

cherry red spots on macula

A

Tay-Sachs (ganglioside accumulation or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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22
Q

chest pain on exertion

A

angina (stable with moderate exertion, unstable is minimal)

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23
Q

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

A

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

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24
Q

chest pain with ST depression on EKG

A

unstable angina without troponins or NSTEMI with troponins

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25
Q

child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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26
Q

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

A

erythema infectiosum/fifth disease (“slapped checks” appearance, parvovirus B19)

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27
Q

chorea, dementia, caudate degeneration

A

Huntingtons disease (autosomal dominant CAG repeats)

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28
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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29
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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30
Q

cold intolerance

A

hypothyroidism

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31
Q

conjugate horizontal gaze palsy, horizontal diplopia

A

internuclear ophthalmoplegia (damage to MLF, may be unilateral or bilateral)

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32
Q

continuous machine like murmur

A

PDA (close with indomethacin, keep open with PGE analogs)

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33
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (caused by hypothyroidism, Graves disease)

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34
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome (right sided valvular lesions, increase in 5-HIAA)

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35
Q

dark purple skin/mouth nodules in AIDs patient

A

Kaposi sarcoma, associated with HHV-S

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36
Q

deep, labored breathing/hyperventilation

A

diabetic ketoacidosis (Kussmaul respirations)

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37
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin deficiency)

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38
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine deficiency)

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39
Q

dog or cat bite infection

A

pasteurella multocida (cellulitis at bite site)

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40
Q

dry eyes, dry mouth, arthritis

A

Sjogrens syndrome (autoimmune destruction of exocrine glands)

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41
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (can progress to squamous cell carcinoma)

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42
Q

elastic skin, hypermobility of joints, increase bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type 3 in vascular subtype)

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43
Q

enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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44
Q

episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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45
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

mycosis fungoides (cutaneous T-cell lymphoma or Sezary syndrome (mycosis fungoides and malignant T cells in blood)

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46
Q

facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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47
Q

fat, female, forty, fertile

A

cholelithiasis (gall stones)

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48
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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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 lymphoma

51
Q

fibrous plaques in soft tissue of penis with abnormal curvature

A

peyronie disease (connective tissue disorder)

52
Q

golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

53
Q

gout, intellectual disability, self-mutilating behavior

A

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

54
Q

hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands or genetalia

A

Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction, increase in cancer risk)

55
Q

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

A

Gauchers disease (glucocerebrosidase deficiency)

56
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

57
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

58
Q

hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

59
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

60
Q

hypoxemia, polycythemia, hypercapnia

A

chronic bronchitis (hyperplasia of mucous cells, blue bloater)

61
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis, treponema pallidum

painful, with exudate: chancroid (Haemophilus ducreyi)

62
Q

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

A

Patau syndrome (trisomy 13)

63
Q

infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (G6Pase deficiency, more severe)

64
Q

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

A

Edwards syndrome (trisomy 18)

65
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

66
Q

large rash with bull’s eye appearance

A

erythema chronicum migrans from Ixodes tick (lyme disease: borrelia)

67
Q

lucid interval after traumatic brain injury

A

epidural hematoma (middle meningeal artery rupture)

68
Q

male, child, recurrent infections, no mature B cells

A

Brutons disease (X linked agammaglobulinemia)

69
Q

mucosal bleeding and prolonged bleeding time

A

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

70
Q

muffled heart sounds, distended neck veins, hyptotension

A

Becks triad of cardiac tamponade

71
Q

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumary teech

A

Gardner syndrome (subtype of FAP)

72
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

73
Q

neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus injury)

74
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

75
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

76
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono, CLL)

77
Q

painful, raised red lesions on pads of fingers and toes

A

Osler nodes (infective endocarditis, immune complex deposition)

78
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

79
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct)

80
Q

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

A

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

81
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

82
Q

periorbital or peripheral edema, proteinuria (3.5g/day), hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

83
Q

pink complexion, dyspnea, hyperventilation

A

emphysema, pink puffer, centroacinar - smoker, panacinar - alpha 1 antitrypsin

84
Q

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

A

Fanconi syndrome (combined dysfunction of PCT)

85
Q

pruritic, purple, polygonal planar papules and plaques

A

lichen planus

86
Q

ptosis, miosis, anhidrosis

A

Horners syndrome (sympathetic chain lesion)

87
Q

pupil accommodates but doesn’t react

A

neurosyphilis (Argyll Robertson pupil)

88
Q

rapidly progressive limb weakness that ascents following GI infection

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

89
Q

rash on palms and soles

A

coxsackie A, secondary syphilis, Rocky Mountain spotted fever

90
Q

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

A

hyper IgE syndrome (Job syndrome, neutrophil chemotaxis abnormailty)

91
Q

red currant jelly sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

92
Q

red currant jelly stools

A

acute mesenteric ischemia (adults), intussusception (children)

93
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of breast (sign of underlying neoplasm)

94
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

95
Q

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

A

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

96
Q

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

A

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

97
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

98
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

99
Q

severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

100
Q

severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

101
Q

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

A

Fanconia anemia (loss of DNA crosslink repair, progresses to AML)

102
Q

single palmar crease

A

Down syndrome

103
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

104
Q

skin hyperpigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (Addisons disease causes increase ACTH and increase alpha-MSH production)

105
Q

slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin, less severe than Duchennes)

106
Q

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

A

Koplik spots (measles virus)

107
Q

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

A

condylomata lata (secondary syphilis)

108
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

109
Q

strawberry tongue

A

Scarlet fever, Kawasaki disease

110
Q

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

A

Turner syndrome

111
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra (hyperuricemia)

112
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (vitamin C deficiency, cant hydroxylate proline/lysine for collagen synthesis)

113
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophytes on PIP - Bouchard nodes, osteophytes on DIP - Heberden nodes_

114
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

115
Q

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

A

Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)

116
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant RET mutation)

117
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

118
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

119
Q

unilateral facial drooping involving forehead

A

LMN facial nerve palsy, UPN spares the forehead

120
Q

urethritis, conjunctivitis, arthritis in males

A

reactive arthritis associated with HLA B27

121
Q

vascular birthmark (port-wine stain) of face

A

nevus flammeus (benign but associated with Sturge-Weber syndrome)

122
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

123
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

124
Q

worst headache of my life

A

subarachnoid hemorrhage

Boards Fast Facts (4 decks)

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