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Boards High Yield > Classic Presentations > Flashcards

Classic Presentations Flashcards

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-Friederichsen syndrome (meningococcemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s Syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s Disease (vertebral TB)

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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 (type I 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 (increase 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 Erythematosus

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13
Q

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

A

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

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14
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

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 Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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17
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with 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 weeks after acute episode)

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19
Q

Child uses arms to stand up from squat

A

Gower’s Sign (Duchenne Muscular Dystrophy)

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20
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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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; bilateral [multiple sclerosis], unilateral [stroke])

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25
Q

Continuous “machinery” heart murmur

A

PDA (close with indomethacin, open or maintain 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

Kapsoi’s Sarcoma (usually AIDS patients [MSM]: 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, alcoholism or malnutrition

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

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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36
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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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

Cholelithiasis (gallstones)

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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, diffush rash

A

Measles (paramyxovirus: enveloped, - ssRNA)

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41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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42
Q

Fibrous plaques in soft tissue of the penis

A

Peyronie’s Disease (connective tissue disorder, associated with Dupuytren’s contracture)

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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 accumulated from Wilson’s Disease)

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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

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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)

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48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy Syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasciculatoins

A

LMN damage

51
Q

Hypoxemia, polycythemia, hypercapnia

A

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

52
Q

Indurated, ulcerated genital lesions

A

Non-painful: chancre (primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

53
Q

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

A

Patau’s Syndrome (trisomy 13)

54
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick Disease (genetic sphingomyelinase deficiency)

55
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s Disease (debranching enzyme deficiency)

56
Q

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

A

Edwards’ Syndrome (trisomy 18)

57
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s Sign (distal obstruction of biliary tree)

58
Q

Large rash with bulls-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme Disease: Borrelia)

59
Q

Lucid interval after traumatic brain injury

A

Epidural Hematoma (middle meningeal artery rupture)

60
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s Disease (x-linked agammaglobulinemia)

61
Q

Mucosal bleeding and prolonged bleeding time

A

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

62
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s Triad of Cardiac Tamponade

63
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeeth

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

Neonate with arm paralysis following difficult birth

A

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

66
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s Syndrome (pituitary infarction)

67
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple Sclerosis

68
Q

Oscillating slow/fast breathing

A

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

69
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold Agglutinin Disease (autoimmune hemolytic anemia cuased by M. pneumoniae, infectious mononucleosis)

70
Q

Painful, pale, cold fingers/toes

A

Raynaud’s Phenomenon (vasospasm in extremities)

71
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler’s Node (infective endocarditis, immune complex deposition)

72
Q

Painless erythematous lesions on palms and soles

A

Janeway Lesion (infective endocarditis, septic emboli/microabscesses)

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 1 (autosomal dominant)

76
Q

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

A

Nephrotic Syndrome

77
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink Puffers” (emphysema: centriacinar [smoking], panacinar [alpha-1 antitrypsin deficiency]

78
Q

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

A

Fanconi’s Syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior “drawer sign”

A

Anterior Cruciate Ligament (ACL) injury

80
Q

Pruritic, purple, polygonal planar papules and plaques (6 F’s)

A

Lichen Planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner’s Syndrome (sympathetic chain lesion)

82
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson Pupil (neurosyphilis)

83
Q

Rapidly progressive leg weakness that ascends following GI/upper respiratory infection

A

Guilain-Barre Syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain Spotted Fever

85
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

86
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

87
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

88
Q

Red, itchy, swollen rash of the nipple/areola

A

Paget’s Disease of the breast (represents underlying neoplasm - DCIS)

89
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal Nocturnal Hemoglobinuria

90
Q

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

A

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

91
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s Disease (nigrostriatal dopamine depletion)

92
Q

Retinal hemorrhages with pale center

A

Roth’s Spots (bacterial endocarditis)

93
Q

Severe jaundice in neonate

A

Crigler-Najjar Syndrome (congenital unconjugated hyperbilirubinemia)

94
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing’s Sign (acute appendicitis)

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s Sign (appendicitis)

96
Q

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

A

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

97
Q

Single palmar crease

A

Simian crease (Down Syndrome)

98
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s Syndrome (dynein arm defect affecting cilia)

99
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison’s Disease (primary adrenocortical insufficiency causes increase ACTH and increase alpha-MSH production)

100
Q

Slow, progressive muscle weakness in boys

A

Becker’s Muscular Dystrophy (x-linked missense mutation in dystrophin; less severe than Duchenne’s)

101
Q

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

A

Koplik Spots (measles; rubeola virus)

102
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata Lata (secondary syphilis)

103
Q

Splinter hemorrhages in fingernails

A

Bacterial Endocarditis

104
Q

“Strawberry tongue”

A

Scarlet Fever, Kawasaki Disease, Toxic Shock Syndrome

105
Q

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

A

Turner Syndrome (45 XO)

106
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/Podagra (hyperuricemia)

107
Q

Swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

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

108
Q

Swollen, hard, painful finger joints

A

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

109
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic Valve Stenosis

110
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (autosomal dominant ret mutation)

111
Q

Thyroid tumors, pheochromocytoma, galnglioneuromatosis

A

MEN2B (autosomal dominant ret mutation)

112
Q

Toe extension/fanning upon plantar scrape

A

Babinski Sign (UMN lesion)

113
Q

Unilateral facial drooping involving forehead

A

Facial Nerve (LMN CN VII) Palsy

114
Q

Urethritis, conjuctivitis, arthritis in male

A

Reactive Arthritis associated with HLA-B27

115
Q

Vascular birthmark (port-wine stain)

A

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

116
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss Syndrome (alcoholic and bulimic patients)

117
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s Disease (Tropheryma whipplei - PAS positive)

118
Q

“Worst headache of my life”

A

Subarachnoid Hemorrhage

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