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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 ( 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 syndrome (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 (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 of bone (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 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

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 (Deficient Hexosaminidase A, GM2 ganglioside accumulation) or Niemann-Pick (Deficient Sphingomyelinase, sphingomyelin accumulation), central retinal artery occlusion

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17
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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18
Q

Child uses arms to stand up from squat

A

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

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19
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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20
Q

Chorea, dementia, caudate degeneration

A

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

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21
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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22
Q

Cold intolerance

A

Hypothyroidism

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23
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

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

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24
Q

Continuous “machinery” heart murmur

A

PDA (close with indomethacin; open with misoprostol)

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25
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (hypothyroidism, Graves’ disease)

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26
Q

Dark purple skin/mouth nodules

A

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

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27
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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28
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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29
Q

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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30
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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31
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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32
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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33
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome ( Type III collagen defect)

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34
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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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

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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37
Q

Fat, female, forty, and fertile

A

Acute cholecystitis (bile duct blockage)

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38
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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39
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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40
Q

Fever, night sweats, weight loss

A

B symptoms (lymphoma)

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41
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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42
Q

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

A

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

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43
Q

Green-yellow rings around peripheral cornea

A

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

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44
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

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45
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency, glucocerebroside accumulation)

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46
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport’s syndrome (mutation in chain of type IV collagen)

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47
Q

Hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseau’s syndrome (adenocarcinoma of pancreas or lung)

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48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, positive Babinski sign

A

UMN damage

50
Q

Hypertension, hypokalemia, metabolic acidosis

A

Conn’s syndrome (Primary hyperaldosteronism)

51
Q

Hyporeflexia, hypotonia, atrophy

A

LMN damage

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)

54
Q

Painful, with exudate:

A

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, 1,6-glucosidase)

57
Q

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

A

Edwards’ syndrome (trisomy 18)

58
Q

Jaundice, RUQ pain, fever

A

Charcot’s triad (ascending cholangitis)

59
Q

Keratin pearls on a skin biopsy

A

Squamous cell carcinoma

60
Q

Large rash with bull’s-eye appearance

A

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

61
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

62
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

63
Q

Mucosal bleeding and prolonged bleeding time

A

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

64
Q

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

A

Gardner’s syndrome (subtype of FAP)

65
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

66
Q

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

Wegener’s (c-ANCA positive) and Goodpasture’s syndromes (anti-basement membrane antibodies)

67
Q

Neonate with arm paralysis following difficult birth

A

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

68
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

69
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

70
Q

Oscillating slow/fast breathing

A

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

71
Q

Painful blue fingers/toes, hemolytic anemia

A

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

72
Q

Painful, pale, cold fingers/toes

A

Raynaud’s syndrome (vasospasm in extremities)

73
Q

Painful, raised red lesions on palms and soles

A

Osler’s node (infective endocarditis)

74
Q

Painless, erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

75
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

76
Q

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

A

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

77
Q

Pancreatic, pituitary, parathyroid tumors

A

Wermer’s syndrome (MEN 1 - autosomal dominant)

78
Q

Pink complexion, dyspnea, hyperventilation

A

Pink puffer (emphysema: centroacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])

79
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

80
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament (ACL) injury

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

Guillain-Barre syndrome (autoimmune acute 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

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

86
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

87
Q

Red, itchy, swollen rash of nipple/areola

A

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

88
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

89
Q

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

A

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

90
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

91
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

92
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

93
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

94
Q

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

A

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

95
Q

Single palm crease

A

Simian crease (Down syndrome)

96
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

97
Q

Skin hyperpigmentation

A

Addison’s disease (Primary adrenocortical insufficiency of autoimmune or infectious etiology, ACTH and MSH production)

98
Q

Slow, progressive muscle weakness in boys

A

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

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 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

A

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

104
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

105
Q

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

A

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

106
Q

Swollen, hard, painful finger joints

A

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

107
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

108
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

Sipple’s syndrome (MEN 2A, autosomal dominant ret mutation)

109
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

110
Q

Toe extension/fanning upon plantar scrape

A

Babinski’s sign (UMN lesion)

111
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (LMN CN VII palsy)

112
Q

Urethritis, conjunctivitis, arthritis in a male

A

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

113
Q

Vascular birthmark (port-wine stain)

A

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

114
Q

Vasculitis from exposure to endotoxin causing glomerular thrombosis

A

Shwartzman reaction (following second exposure to endotoxin)

115
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

116
Q

Waxy casts with very low urine flow

A

Chronic end-stage renal disease

117
Q

WBC casts in urine

A

Acute pyelonephritis

118
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whippelii)

119
Q

Worst headache of my life

A

Subarachnoid hemorrhage

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