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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

Achilles tendon xanthoma

A

Familial hypercholesterolemia

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningiococcemia)

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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

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

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6
Q

Big toe extension/fanning upon plantar scrape

A

Babinski’s sign (UMN lesion)

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7
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis

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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 (increased hat size), fractures, arthritis

A

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

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11
Q

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

A

Neurofibromatosis type I (plus bilateral acoustic neuromas=tyype II)

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12
Q

Calf psuedohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s)

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13
Q

Cherry-red spot on macula (3)

A

Tay-Sach’s (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease), central retinal artery occlusion

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14
Q

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

A

Dressler’s syndrome

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15
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)

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16
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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17
Q

Chorea, dementia, caudate degeneration

A

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

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18
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps

A

McArdle’s disease (muscle phosphorylase deficiency)

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19
Q

Cold intolerance

A

hypothyroidism

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20
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opththalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke])

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21
Q

Continuous machinery heart murmur

A

PDA (close with indomethacin, open with misoprostol)

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22
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (hypothyroidism, Graves’ disease)

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23
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients, associated with HHV-8)

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24
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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25
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin (B3) deficiency)

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26
Q

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet Beriberi (thiamine (B1) deficiency)

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27
Q

Dog or cat bite resulting in infection

A

Pasteurella multicoda

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28
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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29
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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30
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (collagen defect)

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31
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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32
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical t cells

A

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

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33
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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34
Q

Fat, female, forty, and fertile

A

Acute cholelithiasis (bile duct blockage)

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35
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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36
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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37
Q

Fever, night sweats, weight loss

A

B symptoms (lymphoma), TB

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38
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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39
Q

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

A

Lesch-Nyhan syndrome (HGPRT deficiency)

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40
Q

Green-yellow rings around peripheral cornea

A

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

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41
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

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42
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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43
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport’s syndrome (collagen mutation)

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44
Q

Hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseau’s sign (adenocarcinoma of pancreas or lung)

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45
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

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46
Q

Hypertension, hypokalemia, metabolic acidosis

A

Conn’s syndrome (primary hyperaldosteronism)

47
Q

Hypoxemia, polycythemia, hypercapnia

A

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

48
Q

Indurated, ulcerated genital lesion (nonpainful)

A

Chancre (primary syphilis, treponema pallidum)

49
Q

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

50
Q

Infant with hypoglycemia, failure to thrive, hepatomegaly

A

Cori’s disease (debranching enzyme deficiency), Von Gierke’s

51
Q

Infant with micrognathia, rocker-bottom feet, and structural heart defect

A

Edward’s syndrome (trisomy 18)

52
Q

Jaundice, RUQ pain, fever

A

Charcot’s triad (ascending cholangitis)

53
Q

Keratin pearls on a skin lesion

A

Squamous cell carcinoma

54
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans from tick bite (Lyme disease: Borrelia)

55
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma

56
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

57
Q

Mucosal bleeding and prolonged bleeding time

A

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

58
Q

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

A

Gardner’s syndrome (genetic disorder, predisposes to colon cancer)

59
Q

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

Wegener’s and Goodpasture’s syndromes (hemoptysis and glomerular disease)

60
Q

Neonate with arm paralysis following difficult birth

A

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

61
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

62
Q

Nystagmus, intention tremor, scanning speech

A

Charcot’s triad 1 (multiple sclerosis)

63
Q

Oscillating slow/fast breathing

A

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

64
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycloplasma pneumoniae, infectious mononucleosis)

65
Q

Painful, pale, cold fingers/toes

A

Raynaud’s syndrome (vasospasm in extremities)

66
Q

Painful, raised red lesions on palms and soles

A

Osler’s nodes (infective endocarditis)

67
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

68
Q

Palpable purpura, joint pain, abdominal pain (child)

A

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

69
Q

Pancreatic, pituitary, parathyroid tumors

A

Wermer’s syndrome (MEN I)

70
Q

Pink complexion, dyspnea, hyperventilation

A

Pink puffer (emphysema: centroacinar from smoking, panacinar from alpha1-antitrypsin deficiency)

71
Q

Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl

A

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

72
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

73
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament injury

74
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

75
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

76
Q

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

A

Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

77
Q

Rash on palms and soles

A

2ry syhilis

Rocky Mountain spotted fever

78
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

79
Q

Red “currant jelly” sputum

A

Klebsiella pneumoniae

80
Q

Red, itchy, swollen rash of nipple/areola

A

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

81
Q

Red urine in the morning

A

Paroxysmal nocturnal hemoglobinuria

82
Q

Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromacytoma

A

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

83
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (ningrostriatal dopamine depletion)

84
Q

Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance

A

Pompe’s disease (lysosomal glucosidase deficiency)

85
Q

Retinal hemorrhages with pale centers

A

Roth’sspots (bacterial endocarditis)

86
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

87
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

88
Q

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

A

Fanconi’s anemia (genetic inheritance, often progresses to AML)

89
Q

Single palm crease

A

Simian crease (Down Syndrome)

90
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein defect affecting cilia)

91
Q

Skin hyperpigmentation

A

Addison’s disease (primary adrenocortical insufficiency of autoimmune or infectious etiology)

92
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (x-linked, defective dystrophin, less severe than Duchenne’s)

93
Q

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

A

Koplik spots (measles)

94
Q

Small, nontender, erythematous lesions on palms/soles

A

Janeway lesions (infective endocarditis)

95
Q

Smooth, flat, moist white lesions on genitals

A

Condyloma lata (secondary syphilis)

96
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

97
Q

Strawberry tongue (3)

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

98
Q

Streak ovaries, congenital heart disease, horseshoe kidney

A

Turner’s syndrome (XO, short stature, webbed neck, lymphedema)

99
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra

100
Q

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

A

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

101
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP (Bouchard’s nodes) and DIP (Heberden’s nodes))

102
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

103
Q

Thyroid, parathyroid, adrenal tumors

A

Sipple’s syndrome (MEN 2A)

104
Q

Ulcerated genital lesion with exudate (painful)

A

Chancroid (Haemophilus ducreyi)

105
Q

Unilateral facial drooping

A

Bell’s palsy (LMN CN VII palsy)

106
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reiter’s syndrome (reactive arthritis associated with HLA-B27)

107
Q

Vascular birthmark (port-wine stain)

A

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

108
Q

Vasculitis from exposure to endotoxin causing glomerular thrombosis

A

Schwartzman reaction (following second exposure to endotoxin)

109
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome (alcoholics, eating disorders)

110
Q

Waxy casts with very low urine flow

A

Chronic end-stage renal disease

111
Q

WBC casts in urine

A

Acute pyelonephritis

112
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whippple’s disease (Tropheryma whippelii)

113
Q

Worst headache of my life

A

Sub-arachnoid hemorrhage: Berry aneurysm (associated with adult polycystic kidney disease)

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