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Classic Presentations Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic 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

Achilles 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” positive

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 w/ polycythemia

A

secondary to EPO injection

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9
Q

back pain, fever, night sweats

A

Pott dz (vertebral TB)

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10
Q

b/l acoustic schwannomas

A

neurofibromatosis type II

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11
Q

b/l hilar lymphadenopathy, uveitis

A

sarcoidosis (noncaseating granulomas)

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12
Q

black eschar on face of pt w/ DKA

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 dz of bone (increased osteoblastic and osteoclastic 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

neurofibromatosis type I, pheochromocytoma, optic gliomas

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19
Q

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

A

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

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20
Q

calf pseudohypertrophy

A

muscular dystrophy (most commonly Duchenne, d/t XR frameshift mutation of dystrophin gene)

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21
Q

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

A

Kawasaki dz (tx w/ IVIG and ASA)

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22
Q

“cherry-red spots” on macula

A

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

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23
Q

chest pain on exertion

A

angina (stable: w/ moderate exertion; unstable: w/ minimal exertion or at rest)

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24
Q

chest pain, pericardial effusion/friction rub, 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 w/ ST depressions on EKG

A

unstable angina (troponins -) or NSTEMI (troponins +)

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26
Q

child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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27
Q

chorea, dementa, caudate degeneration

A

Huntington dz (AD CAG repeat expansion)

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28
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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29
Q

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

A

McArdle dz (skeletal muscle glycogen phosphorylase deficiency)

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30
Q

cold intolerance

A

hypothyroidism

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31
Q

conjugate horizontal gaze palsy, horizontal diplopia

A

internuclear ophthalmoplegia (damage to MLF; may be u/l or b/l)

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32
Q

continuous “machine-like” heart murmur

A

PDA (close w/ indomethacin; open or maintain w/ PGE analogs)

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33
Q

cutaneous/dermal edema d/t connective tissue deposition

A

myxedema (caused by hypothyroidism, Graves dz [pretibial])

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34
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome (R-sided cardiac valvular lesions, increased 5-HIAA)

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35
Q

dark purple skin/mouth nodules in pt w/ AIDS

A

Kaposi sarcoma, associated w/ HHV-8

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36
Q

deep, labored breathing/hyperventilation

A

Kussmaul respirations (DKA)

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37
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin [vB3] deficiency)

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38
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine [vB1] deficiency)

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39
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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40
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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41
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal SCC)

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42
Q

elastic skin, hypermobility of joints, increased bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

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43
Q

enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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44
Q

episodic vertigo, tinnitus, hearing loss

A

Meniere dz

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45
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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46
Q

facial muscle spasms upon tapping

A

Chvostek sign (hypocalcemia)

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47
Q

fat, female, forty, fertile, flatulent

A

cholelithiasis (gallstones)

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48
Q

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

A

Jarish-Herxheimer reaciton (rapid lysis of spirochetes results in endotoxin release)

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49
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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50
Q

fever, night sweats, weight loss

A

B sx (staging) of lymphoma

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51
Q

fibrous plaques in soft tissue of penis w/ abnormal curvature

A

Peyronie dz (connective tissue disorder)

52
Q

golden brown rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson dz)

53
Q

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

A

Lesch-Nyhan syndrome (HGPRT deficiency, XR)

54
Q

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

A

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

55
Q

HSM, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises

A

Gaucher dz (glucocerebrosidase deficiency)

56
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

57
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (b/l amygdala lesion)

58
Q

hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

59
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

60
Q

hypoxemia, polycythemia, hypercapnia

A

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

61
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis, Treponema pallidum); painful, w/ exudate: chancroid (Haemophilus ducreyi)

62
Q

infant w/ “cherry red” spot on macula, HSM, and neurodegeneration

A

Niemann-Pick dz (genetic sphingomyelinase deficiency)

63
Q

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

A

Patau syndrome (trisomy 13)

64
Q

infant w/ hypoglycemia, hepatomegaly

A

Cori dz (debranching enzyme deficiency) or von Gierke dz (glucose-6-phosphatase deficiency, more severe)

65
Q

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

A

Edwards syndrome (trisomy 18)

66
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

67
Q

large rash w/ bull’s-eye appearance

A

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

68
Q

lucid interval after TBI

A

epidural hematoma (MMA rupture)

69
Q

male child, recurrent infections, no mature B cells

A

Bruton dz (X-linked agammaglobulinemia)

70
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (defect in platelet aggregation d/t lack of GpIIb/IIIa)

71
Q

muffled heart sounds, distended neck veins, hypotension

A

Beck triad of 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 dz (lysosomal alpha-1,4-glucosidase deficiency)

74
Q

neonate w/ arm paralysis following difficult birth

A

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

75
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

76
Q

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

A

Charcot triad of MS

77
Q

painful blue fingers/toes, hemolytic anemia

A

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

78
Q

painful fingers/toes changing color from blue to white to red w/ 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

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

81
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

82
Q

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

A

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

83
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1 (AD)

84
Q

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

A

nephrotic syndrome

85
Q

pink complexion, dyspnea, hyperventilation

A

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

86
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the PCT)

87
Q

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

A

lichen planus

88
Q

ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

89
Q

pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

90
Q

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

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

91
Q

rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever, Kawasaki dz

92
Q

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

A

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

93
Q

red “currant jelly” sputum in alcoholic or diabetic pts

A

Klebsiella pneumoniae pneumonia

94
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults, intussusception (children)

95
Q

red, itchy, swollen rash of nipple/areola

A

Paget dz of breast (sign of underlying neoplasm)

96
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

97
Q

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

A

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

98
Q

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

A

Parkinson dz (loss of dopaminergic neurons in substantia nigra pars compacta)

99
Q

retinal hemorrhages w/ pale centers

A

Roth spots (bacterial endocarditis)

100
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

101
Q

severe RLQ pain w/ palpation of LLQ

A

Rovsing sign (acute appendicitis)

102
Q

severe RLQ pain w/ rebound tenderness

A

McBurney sign (acute appendicitis)

103
Q

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

A

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

104
Q

single palmar crease

A

Down syndrome

105
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

106
Q

skin hyperpigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (eg, Addison dz) causes increased ACTH and increased alpha-MSH production

107
Q

slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (XR mutation in dystrophin; less severe than Duchenne)

108
Q

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

A

Koplik spots (measles; rubeola virus)

109
Q

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

A

condylomata lata (secondary syphilis)

110
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

111
Q

“strawberry tongue”

A

scarlet fever, Kawasaki dz

112
Q

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

A

Turner syndrome (45,XO)

113
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra (hyperuricemia)

114
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (vC deficiency; can’t hydroxylate proline/lysine for collagen synthesis)

115
Q

swollen, hard, painful finger joints

A

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

116
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

117
Q

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

A

Osler-Weber-Rendu syndrome

118
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD RET mutation)

119
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD RET mutation)

120
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

121
Q

u/l facial drooping involving forehead

A

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

122
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated w/ HLA-B27

123
Q

vascular birthmark (port-wine stain) of the face

A

nevus flammeus (benign, but associated w/ Sturge-Weber syndrome)

124
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic pts)

125
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple dz (Tropheryma whipplei)

126
Q

“worst headache of my life”

A

SAH

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