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Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari (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, DIC, hypotension

A

Waterhouse-Friderichson (meningococcemia)

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4
Q

Positive Anterior Drawer Sign

A

ACL tear

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5
Q

Arachnodactyly (long fingers), aortic dissection, hyperflexible joints, LENS DISLOCATION

A

Marfan’s Syndrome (fibrillin defect)

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6
Q

Athlete with polycythemia vera

A

2/2 EPO injection

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7
Q

Back pain, fever, night sweats, weight loss

A

Pott’s Disease (vertebral TB)

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8
Q

Bilateral hilar lymphadenopathy, uveitis

A

Sarcoidosis (non-caseating granuloma)

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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’s disease of the bone (increased osteoblastic and osteoclastic 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 and Raynaud phenomenon in a young female

A

SLE

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14
Q

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

A

NF1 (+pheochromocytoma, optic glioma)

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15
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocoius puberty, multiple endocrine abnormalitites

A

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

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16
Q

Calf pseudohypertrophy

A

Duchenne muscular dystrophy (x-linked recessive deletion of dystrophin gene)

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17
Q

“Cherry-red spots” on macula (3)

A

Tay-Sachs (ganglioside accumulation

Niemann-Pick (sphingomyelin accumulation)

Central retinal artery 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 effusinon/friction rub, persistent fever following MI

A

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

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20
Q

Child uses arms to stand up from squat

A

Gower Sign (DMDystrophy)

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21
Q

Child with fever later develops rash on face that spreads to body

A

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

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22
Q

chorea, dementia, caudate degeneration

A

Huntington disease (AD, CAG expansion)

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23
Q

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

A

McArdle disease (muscle glycogen phosphorylase deficiency)

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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 (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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26
Q

Continuous “machine-like” murmur

A

PDA (close with indomethacin; open with misoprostol)

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27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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28
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with 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 B3 def.)

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31
Q

Dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

Wet beriberi (thiamine B1 def.)

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32
Q

Dog or cat 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 (autoimmune destruction of exocrine glands)

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34
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell CA

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35
Q

Elastic skin, hypermobility of joints

A

Ehlers-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 fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungiodes + malig. T-cells spilling into blood)

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38
Q

Facial Muscle spasm upon tapping, what causes this

A

Chvosktek 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 antibiotic treatment for syphillis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in 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 (connective tissue disorder)

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44
Q

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

A

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

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45
Q

Green-yellow rings around peripheral cornea

A

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

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46
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

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47
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebroside def.)

48
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (collagen IV mut.)

49
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-bucy syndrome (bilateral amygdala lesion)

50
Q

Hyperreflexia, hypertonia, babinski sign present

A

UMN lesion

51
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN lesion

52
Q

Hypoxemia, polycythemia, hypercapnia

A

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

53
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis/treponema pallidum)

Painful: chancroid/Haemophilus ducreyi

54
Q

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

A

Patau syndrome (trisomy 13)

55
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase def.)

56
Q

Infant with failure to thrive, hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme def.)

Von Gierke disease (glucose-6-phosphatase def., more severe)

57
Q

Infant with 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 (distal obstruction of biliary tree)

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 X-linked agammaglobulinemia

62
Q

Mucosal Bleeding and prolonged bleeding time

A

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

63
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

64
Q

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

A

Gardner syndrome (FAP subtype)

65
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

66
Q

neonate with arm paralysis following difficult birth

A

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

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

68
Q

nystagmus, intention tremor, scannning speech, bilateral internuclear ophthalmoplegia

A

Multiple Sclerosis

69
Q

Oscillating slow/fast breathing

A

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

70
Q

painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia cuased by Mycoplasma pneumoniae, infectious mononucleosis)

71
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

72
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabcesses)

73
Q

Painless jaundice

A

Cancer of the pancreatic head (obstructing bile duct)

74
Q

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

A

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

75
Q

Pancreatic, Pituitary, parathyroid tumors

A

MEN I (AD)

76
Q

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

A

Nephrotic syndrome

77
Q

Pink complexion, dyspnea, hyperventilation

A

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

78
Q

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

A

Fanconi syndrome (proximal tubular reabsorption defect)

79
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

80
Q

ptosis, miosis, anhidrosis

A

horner syndrome (sympathetic chain lesion)

81
Q

pupil accommodates but doesn’t react

A

argyll roberston pupil (neurosyphilis)

82
Q

rapidly progressive leg weakness that ascends following GI/Upper Resp. infection

A

Guillain-Barre syndrome (acute autoinflammatory demyelinating polyneuropathy)

83
Q

rash on palms and soles

A

Coxsackie A, rocky mt. spotted fever, secondary syphilis

84
Q

recurrent colds, unusual eczema, high serum IgE

A

Job’s hyper-IgE syndrome (neutrophil chemotaxis def.)

85
Q

Alcoholic or diabetic with currant jelly sputum

A

Klebsiella Pneumoniae

86
Q

Red “currant jelly” stools

A

acute mesenteric ischemia (adults), intussusception (infants)

87
Q

Red, itchy, swollen rash of ripple/areola

A

paget disease of the breast (sign of underlying neoplasm)

88
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

89
Q

RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

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

90
Q

Resting tremor, rigidity, akinesia, postural instability

A

parkinson disease (nigrostriatal dopamine depletion)

91
Q

retinal hemorrhages with pale centers

A

roth spots (bacterial endocarditis)

92
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) [type 1 is full lack of enzyme]

93
Q

severe RLQ pain with palpation of LLQ

Severe RLQ pain with rebound tenderness

A

rovsing sign (acute appendicitis)

McBurney sign (acute appendicitis)

94
Q

Short stature, increased incidence of tumors/leukemia, aplastic anemia

A

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

95
Q

Single palmar crease

A

Down Syndrome

96
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

97
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addision disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)

98
Q

Slow progressive muscle weakness in boys

A

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

99
Q

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

A

Koplik spots (measles; rubeola virus)

100
Q

Smooth flat moist painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

101
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

102
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

103
Q

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

A

Turner 45XO

104
Q

Sudden swollen/painful big toe, tophi

A

Gout/podagra (hyperuricemia)

105
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (vit C def.: can’t hydroxylate proline/lysine for collagen synthesis)

106
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP [bouchard nodes], DIP [heberden nodes])

107
Q

Systolic Ejection murmur

A

Aortic stenosis

108
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (AD ret mut.)

109
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN2B (AD ret mut.)

110
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

111
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

112
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis assoc. w/ HLA-B27

113
Q

vascular birthmark (port-wine stain)

A

Hemangioma (benign, assoc. w/ Sturge-Weber syndrome)

114
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic/bulimic)

115
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (tropheryma whipplei)

116
Q

“worst headache of my life”

A

subarachnoid hemorrhage

117
Q

vertical diplopia (double vision when walking down stairs)

A

trochlear nerve (IV) lesion

Qoy (16 decks)

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