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Board questions > First Aid Classic Presentations > Flashcards

First Aid Classic Presentations Flashcards

1
Q

gout, intellectual disability, self mutilating behavior in a boy

dx?

deficient?

inheritence?

A

Lesch-Nyhan syndrome

HGPRT deficiency, X linked recessive

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2
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

dx?

defect?

A

Kartagener syndrome

dynein arm defect affecting cilia

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3
Q

blue sclera

dx?

defect?

A

osteogenesis imperfecta

type I collagen defect

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4
Q

elastic skin, hypermobility of joints, increased bleeding tendency

dx?

defect?

A

Ehler’s Danlos syndrome

type V collagen defect; type III collagen defect seen in vascular subtype of ED

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5
Q

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

dx?

defect?

A

Marfan syndrome

fibrillin defect

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6
Q

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

dx?

defect?

A

McCune-Albright syndrome

mosaic G-protein signaling mutation

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7
Q

Calf pseudohypertrophy

dx?

defect?

A

Muscular dystrophy

MC Duchenne, due to X linked recessive frameshift mutation of dystrophin gene

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8
Q

Child uses arms to stand up from squat

dx?

what is this called?

A

Duchenne muscular dystrophy

Gowers sign

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9
Q

slow, progressive muscle weakness in boys

dx?

defect?

A

Becker muscular dystrophy

X linked missense mutation in dystrophin

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10
Q

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

dx?

defect?

A

Patau syndrome (trisomy 13)

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11
Q

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

dx?

defect?

A

Edward syndrome

trisomy 18

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12
Q

single palmar crease

dx?

A

down syndrome

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13
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

dx?

deficiency?

A

Wet beriberi

thiamine (B1) deficiency

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14
Q

dermatitis, dementia, diarrhea

dx?

defect?

A

Pellagra

niacin (B3) deficiency

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15
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

dx?

deficiency?

A

Scurvy

vit C, can’t hydroxylate proline/lysine for collagen synthesis

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16
Q

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

dx?

deficiency?

A

McArdle Disease

skeletal muscle glycogen phosphorylase deficiency

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17
Q

infant with hypoglycemia, hepatomegaly

dx?

deficiency?

hint: 2 possible

A

Cori disease - debranching enzyme deficiency

Von Gierke disease - glucose-6-phosphatase deficiency, more severe

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18
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

dx?

deficiency?

A

Pompe disease

lysosomal alpha-1, 4-glucosidase deficiency

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19
Q

cherry red spots on macula

dx?

what causes this?

(hint: 2 possibilities)

A

Tay-Sachs (ganglioside accumulation)

Niemann-Pick (sphingomyelin accumulation)

central retinal artery occlusion

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20
Q

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

dx?

deficiency?

A

Gaucher disease

glucocerebrosidease deficiency

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21
Q

Achilles tendon xanthoma

dx?

due to?

A

familial hypercholesterolemia

decreased LDL receptor signaling

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22
Q

anaphylaxis following blood transfusion

dx?

A

IgA deficiency

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23
Q

male child, recurrent infections, no mature B cells

dx?

inheritence?

A

Bruton disease

X linked agammaglobulinemia

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24
Q

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

dx?

what?

A

Hyper-IgE syndrome/Job Syndrome

neutrophil chemotaxis abnormality

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25
Q

“strawberry tongue”

dx? (2)

A

scarlet fever

kawasaki disease

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26
Q

adrenal hemorrhage, hypotension, DIC

dx?

what?

A

Waterhouse-Friderichsen syndrome

meningococcemia

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27
Q

red, “currant jelly” sputum in alcoholic or diabetic pt

dx?

A

Klebsiella pneumoniae pna

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28
Q

large rash with bull’s eye appearance

called what?

vector?

dx?

pathogen?

A

erythema chronicum migrans

Ixodes tick

Lyme disease

Borrelia burgdorferi

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29
Q

indurated, ulcerated genital lesion

ddx?

A

nonpainful: chancre - primary syphilis, treponema pallidum

painful, with exudate: chancroid - Haemophilus ducreyi

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30
Q

pupil accomodates but doesn’t react

dx?

what is this called?

A

neurosyphilis

Argyll Robertson pupil

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31
Q

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

dx?

A

condylomata lata (secondary syphilis)

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32
Q

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

dx?

A

Jarisch-Herxheimer reaction

rapid lysis of spirochetes results in endotoxin-like release

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33
Q

dog or cat bite resulting in infection

etiologic agent?

dx?

A

pasteurella multocida

cellulitis at inoculation site

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34
Q

rash on palms and soles

ddx?

A

coxsackie A

secondary syphilis

RMSF

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35
Q

Black eschar on face of patient with diabetic ketoacidosis

pathogen?

A

mucor or rhizopus fungal infection

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36
Q

chorioretinitis, hydrocephalus, intracranial calcifications

dx?

A

congenital toxoplasmosis

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37
Q

fever, cough, conjunctivitis, coryza, diffuse rash

dx?

A

measles

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38
Q

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

what?

dx?

pathogen?

A

koplik spots

measles

rubeola virus

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39
Q

back pain, fever, night sweats

dx?

A

Pott disease (vertebral TB)

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40
Q

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

dx?

etiologic agent?

A

Erythema infectiosum/Fifth disease

“slapped cheek” appearance

parvovirus B19

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41
Q

abdominal pain, diarrhea, leukocytosis, recent abx use

dx?

A

clostridium difficle infection

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42
Q

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

A

aortic regurgitation

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43
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

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44
Q

continuous “machine like” heart murmur

A

PDA

close with indomethacin

keep open with PGE analogs

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45
Q

chest pain with ST depression on EKG

ddx?

A

angina if trop neg

NSTEMI if trop positive

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46
Q

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

dx?

what and when?

A

Dressler syndrome

autoimmune mediated post-MI fibrinous pericarditis

2 weeks to several months after acute episode

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47
Q

painful, raised red lesions on pads of fingers/toes

what is this?

ddx?

A

osler nodes

infective endocarditis, immune complex deposition

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48
Q

painless erythematous lesions on palms and soles

what?

ddx?

A

Janeway lesions

infective endocarditis, septic emboli/microabscesses

49
Q

splinter hemorrhages in fingernails

dx?

A

bacterial endocarditis

50
Q

retinal hemorrhages with pale centers

what?

dx?

A

roth spots

bacterial endocarditis

51
Q

distant heart sounds, distended neck veins, hypotension

A

beck triad of cardiac tamponade

52
Q

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

dx?

tx?

A

Kawasaki disease

IVIG and aspirin

53
Q

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

dx?

what?

A

henoch-schonlein purpura

IgA vasculitis affecting skin and kidneys

54
Q

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

dx?

A

hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

55
Q

skin hyperpigmentation, hypotension, fatigue

dx?

what does this cause?

A

primary adrenocortical insufficiency (Addison disease)

increase ACTH and increase alpha-MSH production

56
Q

cold intolerance

dx?

A

hypothyroidism

57
Q

cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

dx?

A

myxedema (caused by hypothyroidism, Graves disease (pretibial))

58
Q

facial muscle spasm upon tapping

what sign? means?

A

Chvostek sing

hypocalcemia

59
Q

no lactation postpartum, absent menstruation, cold intolerance

dx? what?

A

Sheehan syndrome

postpartum hemorrhage leading to pituitary infarction

60
Q

deep labored breathing/hyperventilation

A

DKA (kussmaul respirations)

61
Q

cutaneous flushing, diarrhea, bronchospasm

dx?

what?

A

carcinoid syndrome

R sided cardiac valvular lesions, increase 5-HIAA

62
Q

pancreatic, pituitary, parathyroid tumors

genetics?

A

MEN 1 (autosomal dominant)

63
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

dx?

genetics?

A

MEN 2B (autosomal dominant RET mutation)

64
Q

thyroid and parathyroid tumors, pheochromacytoma

dx?

genetics?

A

MEN 2A

autosomal dominant RET mutation

65
Q

jaundice, palpable distended non-tender gallbladder

sign?

what does this mean?

A

Courvoisier sign

distal malignant obstruction of biliary tree

66
Q

painless jaundice

dx?

A

cancer of the pancreatic head obstructing the bile duct

67
Q

dysphagia (esophogeal webs), glossitis, iron deficiency anemia

dx?

could progress to?

A

Plummer-Vinson syndrome

may progress to esophogeal squamous cell carcinoma

68
Q

enlarged, hard left supraclavicular node

What is it called?

what does it mean?

A

Virchow node

abdominal metastasis

69
Q

weight loss, diarrhea, arthritis, fever, adenopathy

dx?

pathogen?

A

Whipple disease

Tropheryma whipplei

70
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

dx?

risks?

A

Peutz-Jeghers syndrome

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

71
Q

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

dx?

A

Gardner syndrome (subtype of FAP)

72
Q

Abdominal pain, ascites, hepatomegaly

dx?

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

73
Q

severe jaundice in neonate

dx?

A

Crigler-Najjar syndrome

congenital unconjugated hyperbilirubinemia

74
Q

fat, female, forty, fertile, familial

dx?

A

cholelithiasis

75
Q

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

dx?

genetic change?

progress to?

A

Fanconi anemia

genetic loss of DNA crosslink repair; often progresses to AML

76
Q

red urine in the morning, fragile RBCs

dx?

A

paroxysmal nocturnal hemoglobinuria

77
Q

painful blue fingers/toes, hemolytic anemia

dx?

caused by?

A

cold agglutinin disease

autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL

78
Q

mucosal bleeding and prolonged bleeding time

dx?

genetics?

A

Glanzmann thrombasthenia

defect in platelet aggregation due to lack of GpIIb/IIIa

79
Q

fever, night sweats, weight loss

what?

A

B symptoms of lymphoma

80
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

ddx?

A

mycosis fungoides (cutaneous T cell lymphoma)

or

Sezary syndrome (mycosis fungoides + malignant T cells in blood)

81
Q

WBCs that look ‘smudged’

dx?

A

CLL

82
Q

athlete with polycythemia

A

secondary to erythropoietin injection

83
Q

neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position

dx?

A

Erb-Duchenne palsy

superior trunk (C5-C6) brachial plexus injury

84
Q

bone pain, bone enlargement, arthritis

dx?

how?

A

Paget disease of bone

increase osteoblastic and osteoclastic activity

85
Q

swollen, hard, painful finger joints in an elderly individual, pain worse with activity

dx?

called?

A

osteoarthritis

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

86
Q

sudden swollen/painful big toe joint, tophi

dx?

A

gout/podagra

hyperuricemia

87
Q

dry eyes, dry mouth, arthritis

dx?

what?

A

Sjogren syndrome

autoimmune destruction of exocrine glands

88
Q

urethritis, conjunctivitis, arthritis in a male

dx?

A

reactive arthritis a/w HLA-B27

89
Q

anticentromere antibodies

dx?

A

Scleroderma (CREST)

90
Q

dark purple skin/mouth nodules in pt with AIDS

dx?

A

kaposi sarcoma, a/w HHV-8

91
Q

anti-desmoglein (anti-desmosome) antibodies

dx?

A

pemphigus vulgaris (blistering)

92
Q

pruritic, purple, polygonal planar papules and plaques

dx?

A

Lichen planus

93
Q

increase AFP in amniotic fluid/maternal serum

ddx?

A

dating error, anencephaly, spina bifida (open neural tube defects)

94
Q

toe extension/fanning upon plantar scrape

called? means?

A

Babinski sign (UMN lesion)

95
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

dx?

what?

A

Kluver-Bucy syndrome

bilateral amygdala lesion

96
Q

lucid interval after TBI

dx?

A

epidural hematoma

middle meningeal artery rupture

97
Q

chorea, dementia, caudate degeneration

dx?

genetics?

A

Huntington disease

autosomal dominany CAG repeat expansion

98
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

dx?

A

MS

99
Q

rapidly progressive limb weakness that ascends following GI/URI

dx?

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

100
Q

cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

dx?

A

neurofibromatosis type 1

101
Q

vascular birth mark (port-wine stain) of the face

dx?

what?

A

nevus flammeus

benign, but a/w Sturge-Weber syndrome

102
Q

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

dx?

genetics?

A

von Hippel-Lindau disease

dominant tumor suppressor gene mutation

103
Q

bilateral acoustic schwannomas

dx?

A

neurofibromatosis type 2

104
Q

hyperreflexia, hypertonia, Babinski sign present

dx?

A

UMN damage

105
Q

hyporeflexia, hypotonia, atrophy, fasciculations

dx?

A

LMN damage

106
Q

unilateral facial drooping involving forehead

dx?

A

LMN facial nerve palsy

(UMN lesions spare the forehead)

107
Q

episodic vertigo, tinnitus, hearing loss

dx?

A

Meniere disease

108
Q

Ptosis, miosis, anhidrosis

dx?

A

horner syndrome

sympathetic chain lesion

109
Q

conjugate horizontal gaze palsy, horizontal diplopia

dx?

A

internuclear ophthalmoplegia

damage to MLF; may be unilateral or bilateral

110
Q

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

dx?

A

Fanconi syndrome

multiple combined dysfunction the proximal convoluted tubule

111
Q

bluish line on gingiva

dx?

A

Burton line - lead poisoning

112
Q

periorbital and/or peripheral edema, proteinuria (>3.5g/d), hypoalbuminemia, hypercholesterolemia

dx?

A

nephrotic syndrome

113
Q

hereditary nephritis, sensorineural hearing loss, cataracts

dx?

genetics?

A

Alport Syndrome

mutation in collagen IV

114
Q

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

dx?

A

Turner Syndrome (45, XO)

115
Q

red, itchy, swollen rash of nipple/areola

dx?

means?

A

Paget disease of the breast

sign of underlying neoplasm

116
Q

fibrous plaques in soft tissue of penis with abnormal curvature

dx?

A

Peyronie disease

connective tissue disorder

117
Q

hypoxemia, polycythemia, hypercapnia

dx?

A

chronic bronchitis

hyperplasia of mucous cells, ‘blue bloater’

118
Q

pink complexion, dyspnea, hyperventilation

dx?

A

emphysema

‘pink puffer’, centriacinar (smoking) or panacinar (alpha-1 antitrypsin deficiency)

119
Q

bilateral hilar adenopathy, uveitis

dx?

A

sarcoidosis (noncaseating granulomas)

Board questions (24 decks)

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