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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

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achiles tendon xanthoma

A

familial hypercholesterolemia (decreased 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

anterior cruciate ligament injury

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7
Q

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

athlete with polycythemia

A

secondary to 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

NF2

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11
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis (non-caseating granulomas)

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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 I 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 (increase osteoblast and osteoclast activity)

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16
Q

bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation

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17
Q

butterfly facial rash and Raynaud phenomenon in a young female

A

SLE

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18
Q

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

A

NF1, pheochromocytoma, optic gliomas

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19
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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20
Q

calf pseudohyperftrophy

A

muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene

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21
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae, red tongue

A

Kawasaki disease (treat with IVIG and aspirin)

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22
Q

“cherry red spots” on macula

A

Tay-Sachs disease ( ganglioside accumulation)
or
Niemann-Pick disease (sphingomyelin accumulation)
or
central retina occlusion

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23
Q

chest pain on exertion

A

Angina:

  • at rest or with minimal exertion–>unstable
  • with moderate exertion–>stable
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24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)

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25
Q

chest pain with ST depressions on EKG

A

unstable angina= troponins negative

NSTEMI= troponins positive

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26
Q

child uses arms to stand up from squat

A

Gowers sign (DMD)

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27
Q

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

A

“slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

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28
Q

chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal dominant CAG repeat expansion)

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29
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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30
Q

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

A

McArdle disease (skeletal muscle glycogen myoPhosphorylase deficiency)

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31
Q

cold intolerance

A

hypothyroidism

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32
Q

conjugate horizontal gaze palsy, horizontal diplopia

A

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

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33
Q

continuous “machine-like” heart murmur

A

PDA (close with indomethacin; maintain or open with PGE analogs)

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34
Q

cutaneous dermal edema due to CT deposition

A

myxedema = hypothyroidism/Hashimotos’s thyroiditis
or
pretibial myxedema = hyperthyroidism/Grave’s disease

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35
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome (right-sided cardiac valvular lesions; increased 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma; associated with HHV-8

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37
Q

deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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38
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin/vitamin B3 deficiency)

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39
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine/vitamin B1 deficiency)

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40
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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42
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

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43
Q

elastic skin, hypermobility of joints, increase bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect; type III collagen defect seen in vascular subtype

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44
Q

enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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46
Q

erythroderma, lymphadenopathy, hepatosmplenomegaly, atypical Tcells

A

Mycosis fungoides = cutaneous T-cell lymphoma
or
Sezary syndrome = mycosis fungoides + malignant Tcells in blood

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47
Q

facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

Fat, female, forty, and fertile

A

cholelithiasis (gallstones)

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49
Q

fever, chills headache, myalgia following antibiotic treatment for syphylis

A

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

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50
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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51
Q

fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

52
Q

fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (CT disorder)

53
Q

golden brown rings around peripheral cornea

A

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

54
Q

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

A

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

55
Q

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

A

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

56
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, crumpled skin histiocytes on BMB

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in Collagen IV)

58
Q

hyperphagia, hypersexuality, hypweorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN dmage

61
Q

hypoxemia, polycythemia, hypercapnea

A

“bleu bloater”: chronic bronchitis; hyperplasia of mucous cells

62
Q

indurated, ulcerated genital lesion

A

Nonpainful: chancre; primary syphylis; Treponema pallidum
Painful:, with exudate: chancroid (haemophilus ducreyi)

63
Q

infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic shingomyelinase deficiency)

64
Q

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

A

Patau syndrome (trisomy 13)

65
Q

infant with hypoglycemia, hepatomegaly

A 
Cori disease (debranching enzyme deficiency) 
or
Von Gierke disease (G6P deficiency; more severe)
66
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

67
Q

large rash with bull’s-eye appearance

A

erythema chronicum migrans from Ixodes tick bite

68
Q

Lucid interval after traumatic brain injury

A

epidural hematoma (middle meningeal artery rupture)

69
Q

male child, recurrent infections, no mature Bcells

A

Bruton disease (X-linked agammaglubulinemia)

70
Q

mucosal bleeding and prolonged bleeding time

A

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

71
Q

muffled heart sounds, distended neck veins, hypotension

A

Beck triad for cardiac tamponade

72
Q

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

A

Gardner Syndrome (subtype of FAP)

73
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

74
Q

neonate with arm paralysis following difficult birth

A

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

75
Q

no lactation post-partum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

76
Q

nystagmus, intention tremor, scanning speech, bilateral INO

A

MS

77
Q

painful blue fingers/toes, hemolytic anemia

A

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

78
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

79
Q

painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

80
Q

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

A

Edwards syndrome (trisomy 18)

81
Q

painless erythematous lesions on palms and soles

A

Janeway lesion (infective endocarditis; septic emboli/microabscesses)

82
Q

painless jaundice

A

cancer of the pancreatic duct obstruction bile duct

83
Q

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

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys

84
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1 (AD)

85
Q

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

A

nephrotic syndrome

86
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer”: emphysema

  • centriacinar ( smoking)
  • panacinar (alpha 1-antitrypsin deficiency)
87
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

88
Q

pruritic, purple, polygonal, planar, papules and plaques (6 Ps)

A

Lichen planus

89
Q

ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

90
Q

pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

91
Q

rapidly progressive limb weakness that ascends following GI/upper respiratory infection

A

Guillain-Barre syndrome (acute inflammatory demyelenating polyradiculopathy subtype)

92
Q

rash on palm and soles

A

Coxsakie A, secondary syphilis, Rocky Mountain spotted fever

93
Q

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

A

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

94
Q

red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumonias pneumonia

95
Q

red “currant jelly” stool

A

acute mesenteric ischemia (adults)

intususcepstion (children)

96
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

97
Q

red urine in the morning; fragile red blood cells

A

paroxysmal nocturnal hemoglobinuria

98
Q

renal cell carcinoman (bilateral), heamngioblastomas, angiomatosis, pheochromocytoma

A

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

99
Q

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

A

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

100
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

101
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

102
Q

severe RLQ pain with palpation or LLQ

A

Rovsing sign (acute appendicitis)

103
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

104
Q

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

A

Fanconi anemia (genetic loss of DNA cross-link repair; often progresses to AML

105
Q

single palmar crease

A

down syndrome

106
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

107
Q

skin hyperpigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (Addison’s disease) causes increased ACTH and increase alpha-MH production)

108
Q

slow, progressive muscle weakness in boys

A

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

109
Q

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

A

koplik spots (measles; rubeola virus)

110
Q

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

A

condylomata lata (secondary syphilus)

111
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

112
Q

“strawberry tongue”

A

scarlet fever
or
Kawaski disease

113
Q

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

A

Turner syndrome (45, XO)

114
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra (hyperuricemia)

115
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae, easy bruising

A

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

116
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Herberden nodes])

117
Q

systolic ejection murmur (cresecendo-decrescendo)

A

aortic stenosis

118
Q

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

A

Osler-Weber-Rendu-syndrome

119
Q

thyroid and parathyroid tumors, pheocromocytoma

A

MEN2A (AD, RET mutation)

120
Q

thyroid and parathyroid tumors, pheocromocytoma, ganglioneuromatosis

A

MEN2B (AD, RET mutation)

121
Q

toe extension/fanning upon plantar scrape

A

positive Babinski sign (UMN lesion)

122
Q

unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

123
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

124
Q

Vascular birthmark (port-wine stain) of the face

A

nevus flammeus (benign, but associated with Stude-Weber syndrome)

125
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

126
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease 9tropheryma Whipplei)

127
Q

“worst headache of my life”

A

sub-arachnoid hemorrhage

FA Rapid Review (4 decks)

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