Classical Presentations Flashcards

1
Q

Chest pain on exertion

A

Angina (moderate exertion: stable) (minimal exertion: unstable)

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2
Q

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

A

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-2 weeks after acute episode)

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3
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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4
Q

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

A

“Slapped cheeks” (erythema infectiosum/5th disease: parvovirus B19)

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5
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (AD CAG repeat expansion)

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6
Q

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

A

McArdle’s disease (muscle glycogen phophorylase deficiency)

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7
Q

Cold intolerance

A

Hypothyroidism

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8
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

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

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9
Q

Continuous “machinery” heart murmur

A

PDA (close with indomethacin; open with misoprostol)

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10
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Grave’s disease [pretibial])

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11
Q

Dark purple skin/mouth nodules

A

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

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12
Q

Deep, laboured breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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13
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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14
Q

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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15
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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16
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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17
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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18
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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19
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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20
Q

Erythrodema, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrom (cutaneous T cell lymphoma) or mycosis fungoides

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21
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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22
Q

Fat, female, forty, and fertile

A

Acute cholelithiasis (bile duct blockage)

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23
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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24
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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25
Q

Fever, night sweats, weight loss

A

B symptoms (lymphoma)

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26
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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27
Q

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

A

Lesch-Nyan syndrome (HGPRT deficiency, x-linked recessive)

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28
Q

Green-yellow rings around peripheral cornea

A

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

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29
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

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30
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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31
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

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32
Q

Hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseau’s syndrome (migratory thrombophlebitis)

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33
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

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34
Q

Hyperreflexia, hypertonia, positive Babinski sign

A

UMN damage

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35
Q

Hypertension, hypokalemia, metabolic alkalosis

A

Conn’s syndrome

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36
Q

Hyporeflexia, hypotonia, atrophy

A

LMN damage

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37
Q

Hypoxemia, polycythemia, hypercapnia

A

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

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38
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (Primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

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39
Q

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

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40
Q

Infant with hypogycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

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41
Q

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

A

Edward’s syndrome (trisomy 18)

42
Q

Keratin pearls on a skin biopsy

A

Squamous cell carcinoma

43
Q

Large rash with bull’s eye appearance

A

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

44
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

45
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (x-linked agammaglobulinemia)

46
Q

Mucosal bleeding and prolonged bleeding time

A

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

47
Q

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

A

Gardner’s syndrome (subtype of FAP)

48
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

49
Q

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

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

50
Q

Neonate with arm paralysis following difficult birth

A

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

51
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

52
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

53
Q

Oscillating slow/fast breathing

A

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

54
Q

Painful blue fingers/toes, hemolytic anemia

A

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

55
Q

Painful, pale, cold fingers/toes

A

Raynaud’s syndrome (vasospasm in extremities)

56
Q

Painful, raised red lesions on palms and soles

A

Osler’s node (infective endocarditis)

57
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

58
Q

Painless jaundice

A

Cancer of he pancreatic head obstructing bile duct

59
Q

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

A

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

60
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (AD)

61
Q

Pink complexion, dyspnea, hyperventilation

A

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

62
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

63
Q

Positive anterior “drawer sign”

A

ACL injury

64
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

65
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

66
Q

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

A

Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

67
Q

Rash on palms and soles

A

Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever

68
Q

Recurrent colds, unusual eczema, high serum igE

A

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

69
Q

Red “current jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

70
Q

Red, itchy, swollen rash of nipple/areola

A

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

71
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

72
Q

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

A

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

73
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

74
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

75
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

76
Q

Sever RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

77
Q

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

A

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

78
Q

Single palm crease

A

Simian crease (Down’s syndrome)

79
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

80
Q

Skin hyperpigmentation

A

Addison’s disease (Primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)

81
Q

Slow, progressive muscle weakness in boys

A

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

82
Q

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

A

Koplik spots (measles; rubeola virus)

83
Q

Smooth, flat, moist white lesions on genitals

A

Condylomata lata (Secondary syphilis)

84
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

85
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

86
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth

A

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

87
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

88
Q

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

A

Scurvy (vitamin C deficiency: cant hydroxylase proline/lysine for collagen synthesis)

89
Q

Swollen, hard, painful finger joints

A

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

90
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

91
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD ret mutation)

92
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD ret mutation)

93
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

94
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (LMNCN VII palsy)

95
Q

Urethritis, conjuctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

96
Q

Vascular birthmark (port-wine stain)

A

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

97
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

98
Q

“Waxy” casts with very low urine flow

A

Chronic end-stage renal disease

99
Q

WBC casts in urine

A

Acute pyelonephritis

100
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whippelii)

101
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage