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FA Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

Identify Diagnosis/Disease from clinical presentation

1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-chiari syndrome (posthepatic 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

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrom (fibrillin defect)

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5
Q

athlete with polycythemia

A

Erythropoietin injection

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

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7
Q

bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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8
Q

blue sclera

A

Osteogenesis imperfecta (collagen defect)

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9
Q

bluish line on gingiva

A

Burton’s line (lead poisoning)

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10
Q

bone pain, bone enlargement, arthritis

A

Paget’s disease of bone (increased osteoblastic and osteoclastic activity)

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11
Q

bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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12
Q

“butterfly” facial rash and Raynaud’s phenomenon in a young female

A

Systemic lupus erythematosis (SLE)

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13
Q

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

A

Neurofibromatosis type I (+pheochromocytoma, optic gliomas)

Neurofibromatosis type II (+b/l acoustic neuromas)

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14
Q

cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

A

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

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15
Q

calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene

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16
Q

“cherry-red spot” on macula

A

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

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17
Q

chest pain on exertion

A

Angina (stable: moderate exertion; unstable: minimal exertion)

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18
Q

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

A

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode)

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19
Q

child uses arms to stand up from squat

A

Gowers’ sign (Duchenne muscular dystrophy)

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20
Q

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

A

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

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21
Q

chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal-dominant CAG repeat expansion)

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22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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23
Q

cold intolerance

A

Hypothyroidism

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24
Q

conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; b/l [multiple sclerosis], unilateral [stroke])

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25
Q

continuous “machinery” heart murmur

A

PDA (close with indomethacin; open with misoprostol)

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26
Q

cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves’ disease [pretibial])

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27
Q

dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients [gay men]: associated with HHV-8)

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28
Q

deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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29
Q

dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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30
Q

dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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31
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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32
Q

dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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34
Q

elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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35
Q

enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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36
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

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37
Q

facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

fat, female, forty, and fertile

A

Acute cholelithiasis (bile duct blockage)

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39
Q

fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

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

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40
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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41
Q

fever, night sweats, weight loss

A

B symptoms (lymphoma)

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42
Q

fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

gout, mental retardation, self-mutilating behavior in a boy

A

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

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44
Q

green-yellow rings around peripheral cornea

A

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

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45
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)

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46
Q

hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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47
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

48
Q

hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseau’s syndrome (adenocarcinoma of pancreas or lung)

49
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (b/l amygdala lesion)

50
Q

hyperreflexia, hypertonia, positive Babinski sign

A

UMN damage

51
Q

hypertension, hypokalemia, metabolic alkalosis

A

Conn’s syndrome

52
Q

hyporeflexia, hypotonia, atrophy

A

LMN damage

53
Q

hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

54
Q

indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

55
Q

infant with failure to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

56
Q

infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

57
Q

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

A

Edwards’ syndrome (trisomy 18)

58
Q

keratin pearls on a skin biopsy

A

Squamous cell carcinoma

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 child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

62
Q

mucosal bleeding and prolonged bleeding time

A

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

63
Q

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

A

Gardner’s syndrome (subtype of FAP)

64
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

65
Q

necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

Wegener’s (c-ANCA+) and Goodpasture’s syndromes (anti-basement membrane Abs)

66
Q

neonate with arm paralysis following difficult birth

A

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

67
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

68
Q

nystagmus, intention tremor, scanning speech, b/l internuclear ophthalmoplegia

A

Multiple sclerosis

69
Q

Oscillating slow/fast breathing

A

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

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’s syndrome (vasospasm in extremities)

72
Q

painful, raised red lesions on palms and soles

A

Osler’s node (infective endocarditis)

73
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

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)

A

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

76
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1 (auto dominant)

77
Q

pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency])

78
Q

polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

positive anterior “drawer sign”

A

anterior cruciate ligament (ACL) injury

80
Q

ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

81
Q

pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

82
Q

rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)

A

Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

83
Q

rash on palms and soles

A

Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever

84
Q

recurrent colds, unusual eczema, high serum IgE

A

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

85
Q

red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

86
Q

red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast (represents underlying neoplasm)

87
Q

red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

88
Q

renal cell carcinoma (bilateral)
hemangioblastomas
angiomatosis
pheochromocytoma

A

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

89
Q

resting tremor
rigidity
akinesia
postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

90
Q

retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

91
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

92
Q

severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

93
Q

short stature
increased incidence of tumors/leukemia
aplastic anemia

A

Fanconi’s anemia (genetic loss of DNA crosslink repair; often progresses to AML)

94
Q

single palmar crease

A

Simian crease (Down syndrome)

95
Q

situs inversus
chronic sinusitis
bronchiectasis
infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

96
Q

skin hyperpigmentation

A

Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production

97
Q

slow

progressive muscle weakness in boys

A

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

98
Q

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

A

Koplik spots (measles; rubeola virus)

99
Q

smooth, flat, moist white lesions on genitals

A

Condylomata lata (secondary syphilis)

100
Q

splinter hemorrhages in fingernails

A

Bacterial endocarditis

101
Q

“strawberry tongue”

A

scarlet fever, Kawasaki disease, toxic shock syndrome

102
Q

streak ovaries
congenital heart disease
horseshoe kidney
cystic hygroma at birth

A

Turner syndrome (45XO, short stature, webbed neck, lymphedema)

103
Q

sudden swollen/painful big toe joint

tophi

A

Gout/podagra (hyperuricemia)

104
Q

swollen gums
mucous bleeding
poor wound healing
spots on skin

A

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

105
Q

swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes])

106
Q

systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

107
Q

thyroid and parathyroid tumors

pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

108
Q

thyroid tumors
pheochromocytoma
ganaglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

109
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

110
Q

unilateral facial drooping involving forehead

A

Bell’s palsy (LMN CN VII palsy)

111
Q

urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

112
Q

vascular birthmark (port-wine stain)

A

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

113
Q

vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

114
Q

“waxy” casts with very low urine flow

A

Chronic end-stage renal disease

115
Q

WBC casts in urine

A

Acute pyelonephritis

116
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whippelii)

117
Q

“worst headache of my life”

A

Subarachnoid hemorrhage

FA Rapid Review (11 decks)

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