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First Aid 2014 > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-Chiari Syndrome

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2
Q

achilles tendon xanthoma

A

Familial Hypercholesteolemia

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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

ACL injury

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5
Q

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A 
Marfan Syndrome
(fibrillin defect)
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6
Q

athlete with polycythemia

A

2nd to EPO 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

noncaseating granulomas

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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

osteoblast & osteoclast 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 & Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

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14
Q

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

A

Neurofibromatosis type I

+ pheo/optic gliomas

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15
Q

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

A

McCune-Albright syndrome

mosaic G-protein signaling mutation

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16
Q

calf pseudohypertrophy

A

Muscular dystrophy (MC = Duchenne): X-linked recessive deletion of dystrophin gene

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17
Q

‘cherry-red spots’ on macula

A

Tay-Sachs (ganglioside accumulation) or
Niemann-Pick (sphingomyelin accumulation);
central retinal a. occlusion

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18
Q

chest pain on exertion

A

Angina

stable: w/ moderate exertion; unstable: w/ minimal exertion

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19
Q

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

A

Dressler syndrome

AI-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode

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20
Q

child uses arms to stand up from a squat

A

Gowers sign

Duchenne muscular dystrophy

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21
Q

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

A

Parvovirus B19/erythema infectiosum/fifth disease);

‘slapped cheeks’

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22
Q

chorea, dementia, caudate degeneration

A

Huntington disease

AD CAG repeat expansion

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23
Q

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

A 
McArdle disease
(muscle glycogen phosphorylase def)
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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 (INO) 
MLF damage --> b/l = multiple sclerosis; unilateral = stroke
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26
Q

continuous ‘machine-like’ heart murmur

A

PDA

close w/ indomethacin; open/maintain w/ misoprostol

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27
Q

cutaneous/dermal edema d/t CT deposition

A

Myxedema
(hypothyroidism = periorbital/facial)
(Graves disease = periorbital + pretibial)

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28
Q

dark purple skin/mouth nodules in AIDS patient

A

Kaposi sarcoma

HHV-8

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29
Q

deep, labored breathing/hyperventilation

A 
Kussmaul respirations
(diabetic ketoacidosis)
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30
Q

dermatitis, dementia, diarrhea

A

Pellagra

niacin/Vit B3 def

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31
Q

DCM, edema, alcoholism or malnutrition

A 
Wet beriberi
(thiamine/Vit B1 def)
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32
Q

dog or cate bite resulting in infection

A

Pasteurella multocida

cellulitis at inoculation site

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33
Q

dry eyes, dry mouth, arthritis

A 
Sjogren syndrome
(AI destruction of exocrine glands)
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34
Q

dysphagia (esophageal webs), glossitis, IDA

A

Plummer-Vinson syndrome

may progress to esophageal SqCC

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35
Q

elastic skin, hypermobility of joints

A

Ehler-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, lymphadenopathy, hepatosplenomegaly, atypical T cells

A 
Mycosis fungiodes (cutaneous T-cell lymphoma) OR
Sézary syndrome (MF + malignant T-cell 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, fertile

A

Cholelithiasis

gallstones

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40
Q

fever, chills, headache, myalgia following abx tx for syphilis

A

Jarisch-Herxheimer reaction

rapid lysis of spirochetes –> 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

CT disorder

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44
Q

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

A

Lesch-Nyhan syndrome

HGPRT def, X-linked recessive

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45
Q

green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings

Wilson disease

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46
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

inheritied, benign polyposis –> bowel obstruction; GI cancer risk

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47
Q

hepatosplenomegaly, osteoporosis, neurologic symptoms

A 
Gaucher disease
(glucocerebrosidase def)
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48
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A 
Alport syndrome
(type IV collagen mutation)
49
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Klüver-Bucy syndrome

b/l amygdala lesion

50
Q

hyperreflexia, hypertonia, Babinski sign +

A

UMN damage

51
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

52
Q

hypoxemia, polycythemia, hypercapnia

A

‘Blue bloater’

chronic bronchitis: mucous cell hyperplasia

53
Q

indurated, ulcerated genital lesion

A

Nonpainful: chancre (1’ syphilis)

Painful w/ exudate: chancroid (H. ducreyi)

54
Q

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

A

Patau syndrome

trisomy 13

55
Q

infant w/ FTT, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease

sphingomyelinase def

56
Q

infant w/ hypoglycemia, FTT, hepatosplenomegaly

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

infant w/ 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
(biliary tree distal obstruction)
59
Q

large rash w/ bull’s-eye apperance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme disease-Borrelia + Babesiosis-Babesia)

60
Q

lucid interval after TBI

A

Epidural hematoma

middle meningeal a. rupture

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
(GpIIb/IIIa defect --> platelet aggregation defect)
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/supernumerary teeth

A

Gardner syndrome

FAP subtype)

65
Q

myopathy (infantile HCM), exercise intolerance

A 
Pompe disease
(lysosomal a1,4-glucosidase def)
66
Q

neonate w/ arm paralysis following difficult births

A

Erb-Duchenne palsy

superior trunk [C5-C6] brachial plexus injury: ‘waiter’s tip’

67
Q

no lactation post-partum, absent menstruation, cold intolerance

A

Sheehan syndrome

pituitary infarction

68
Q

nystagmus, intention tremor, scanning speech, b/l INO

A

Multiple sclerosis

69
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations

central apnea in CHF or increased intracranial P

70
Q

painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease

AIHA d/t 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, IC deposition)
73
Q

painless erythematous lesions on palms/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 butt/legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schönlein purpura

IgA vasculitis affecting skin & kidneys

76
Q

pancreatic, pituitary, parathyroid tumors

77
Q

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

A

Nephrotic syndrome

78
Q

pink complexion, dyspnea, hyperventilation

A

‘Pink puffer’

emphysema: centriacinar [smoking], panacinar [A1AT def]

79
Q

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

A 
Fanconi syndrome
(proximal tubular reabs defect)
80
Q

pruritic, 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

neurosyphilis

83
Q

rapidly progressive leg weakness that ascends following GI/URI

A

Guillain-Barré syndrome

acute AI inflammatory demyelinating polyneuropathy

84
Q

rash on palms and soles

A

Coxsackie A,
2’ syphilis,
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 patient

A

Klebsiella pneumoniae

87
Q

red ‘currant jelly’ stools

A

Acute mesenteric ischemia (adults);

Intususception (infants)

88
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast

sign of underlying neoplasm

89
Q

red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

90
Q

renal cell carcinoma (b/l), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease

dominant tumor suppressor gene mutation

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

McBurney sign

acute appendicitis

96
Q

short stature, increased incidence of tumors/leukemia, aplastic 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 
Kartagener syndrome
(dynein arm defect affecting cilia)
99
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison disease

1’ adrenocortical insuff causes increased ACTH and a-MSH 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 w/ blue-white centers

A

Koplik spots

measles/rubeola virus

102
Q

smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (2’ syphilis)

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 toe joint, tophi

A

Gout/podagra

hyperuricemia

107
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy

vit C def: can’t hydroxylate Pro/Lys for collagen syn

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

MEN2A

AD RET mutation

111
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN2B

AD RET mutation

112
Q

toe extension/fanning upon planta 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 a/w HLA-B27

Reiter syndrome

115
Q

vascular birthmark (port-wine stain)

A

Hemangioma

benign, but a/w Sturge-Weber syndrome

116
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome

alcoholic & bulimic patients

117
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease
(Tropheryma whipplei)
(CAN - cardio/arthritis/neuro sx’s)

118
Q

‘worst headache of my life’

A

Subarachnoid hemorrhage

First Aid 2014 (7 decks)

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