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FA Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (post-hepatic venous thrombosis)

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2
Q

Achilles tendon xanthoma

A

familial hypercholesterolemia (decreased LDL receptor signaling

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

+ anterior drawer sign

A

anterior cruciate ligament injury

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5
Q

aracnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Athlete with polycythemia

A

2/2 erythropoietin injection

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7
Q

back pain, fever, night sweats, weight loss

A

Pott disease (vertebral TB)

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8
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis (non-caseating granuloma)

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9
Q

blue sclera

A

osteogenesis imperfecta (type I collagen defect)

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10
Q

bluish line on gingiva

A

Burton line (lead poisoning)

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11
Q

bone pain, bone enlargement, arthritis

A

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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12
Q

bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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13
Q

“Butterfly” facial rash and Raynaud phenomenon in a young woman

A

Systemic lupus erythematosus

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14
Q

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

A

neurofibromatosis type I (+pheochromocytoma, optic gliomas)

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15
Q

cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (mosaic G protien signaling mutation)

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16
Q

Calf pseudohypertrophy

A

Duchenne muscular dystrophy

X-linked recessive deletion of dystrophin gene

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17
Q

“Cherry-red spots” on macula

A

Tay-Sachs (gangioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion

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18
Q

chest pain on exertion

A

Angina

stable: with moderate exertion
unstable: with minimal exertion

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19
Q

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

A

Dressler syndrome

autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode

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20
Q

child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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21
Q

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

A

“slapped cheeks”
erythema infeciousum/Fifth disease
parvovirus B19

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22
Q

chorea, dementia, caudate degeneration

A

Huntington disease

autosomal dominant CAG repeat expansion

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23
Q

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

A

McArdle disease

muscle glycogen pyrophosphate deficiency

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24
Q

Cold intolerance

A

hypothyroidism

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25
Q

conjugate lateral gaze palsy, horizontal diplopia

A

internuclear ophthalmoplegia, damage to MLF

bilateral: MS, unilateral: stroke

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26
Q

continuous “machine-like” murmur

A

PDA

close with indomethacin, open/maintain with misoprostol

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27
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (2/2 hypothyroidism)

Graves dz - pretibial myxedema

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28
Q

dark purple skin/mouth nodules in a pt with AIDS

A

kaposi sarcoma

associated with HHV8

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29
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (DKA)

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30
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin/vitamin B3 deficiency)

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31
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine/vitamin B1 deficiency)

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32
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis as inoculation site)

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33
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome

autoimmune destruction of exocrine glands

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34
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome

may progress to esophageal squamous cell carcinoma

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35
Q

elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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36
Q

enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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37
Q

erythroderma, lymphadeopathy, hepatosplenomegaly, atypical T cells

A 
Mycosis fungoides (cutaneous T cell lymphoma) 
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
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38
Q

facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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39
Q

fat, female, forty and fertile

A

cholelithiasis

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40
Q

fever, chills, headache, myalgia following antibiotic tx for syphillis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

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41
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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42
Q

fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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43
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connective tissue disorder)

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44
Q

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

A

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

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45
Q

green-yellow rings around peripheral cornea

A

Kayse-Fleischer rings (copper accumulation from Wilson’s disease)

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46
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

inherited benign polyposis can cause bowel obstruction, increased cancer risk, mainly GI

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47
Q

hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

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48
Q

hereditary nephritis, sensorineuroal hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

49
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesions)

50
Q

hyperreflexia, hypertonia, +Babinski sign

A

UMN damage

51
Q

hyporeflexa, hypotonia, atrophy, fasciculations

A

LMN damage

52
Q

hypoxemia, polycythemia, hypercapnia

A

“Blue bloater”

chronic bronchitis: hyperplasia of mucous cells

53
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphillis, Treponema pallidum)

painful with exudate: chancroid (Haemophilus ducreyi)

54
Q

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

A

Patau syndrome (trisomy 13)

55
Q

infant with failure to thrive, hepatosplenomegaly and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency

56
Q

infant with hypoglycemia, failure to thrive and hepatomegaly

A 
Cori disease (debranching enzyme deficiency)
Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
57
Q

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

A

Edwards syndrome (trisomy 18)

58
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

59
Q

large rash with bull’s-eye appearance

A

erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

60
Q

lucid interval after traumatic brain injury

A

epidural hematoma (middle meningeal artery rupture)

61
Q

male chid, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemai)

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, oseomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

65
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

66
Q

neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk C5-6 brachial plexus injury, “waiters tip”)

67
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

68
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

69
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or increased ICP)

70
Q

painful blue fingers/toes, hemolytic anemia

A

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

71
Q

painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extremities)

72
Q

painful, raised, red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

73
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

74
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

75
Q

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

A

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

76
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

77
Q

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

A

nephrotic syndrome

78
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer”

emphysema - centriacinar (smoking), panacinar (a1-antitrypsin deficiency)

79
Q

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

A

Fanconi syndrome (proximal tubular reabsorption defect)

80
Q

puritic, purple, polygonal, planar papules and plaques (6 P’s)

A

lichen planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

82
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphillis)

83
Q

rapidly progressive leg weakness that ascends following GI/URI

A

Guillian-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

Rash on palms and soles

A

Coxsackie A, secondary syphillis, Rocky Mountain Spotted Fever

85
Q

recurrent colds, unusual eczema, high serum IgE

A

hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

86
Q

red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

87
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults), intussusception (infants)

88
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (indicative of underlying neoplasm)

89
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria (PNH)

90
Q

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

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation, chromosome 3p)

91
Q

resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

92
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

93
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

94
Q

severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

95
Q

severe RLQ pain with rebound tenderness

A

McBurnery sign (acute appendicitis)

96
Q

short stature, increased incidence of tumors/leukemia, anaplastic anemia

A

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

97
Q

single palmar crease

A

Down syndrome

98
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Karagener syndrome (dynein arm defect affecting cilia)

99
Q

skin hyperpigmentation, hypotension, fatigue

A

Addision disease (primary adrenocortical insufficiency causes increased ACTH and aMSH production)

100
Q

slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

101
Q

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

A

Koplik spots (measles, rubeola virus)

102
Q

smooth, flat, painless white lesions on genitals

A

condyloma lata (secondary syphillis)

103
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

104
Q

“strawberry tongue”

A

scarlet fever, Kawasaki disease, toxic shock syndrome

105
Q

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

A

Turner syndrome (45,XO)

106
Q

sudden swollen/painful big toes joint, tophi

A

Gout/podagra (hyperuricemia)

107
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (vitamin C deficiency, can’t hydroxylate proline/lysine for collagen synthesis)

108
Q

swollen, hard painful finger joints

A

osteoarthritis

osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes)

109
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic valve stenosis

110
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

111
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

112
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

113
Q

unilateral facial drooping involving forehead

A

facial nerve palsy (LMN CN VII palsy)

114
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

115
Q

vascular birthmark (port-wine stain)

A

Hemangioma (benign, but assocaited with Sturge-Weber syndrome)

116
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients

117
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (tropheryma whipplei)

118
Q

“worst headache of my life”

A

subarachnoid hemorrhage

FA Rapid Review (6 decks)

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