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Pathology > First Aid 2014 Rapid Review Classic Presentations > Flashcards

First Aid 2014 Rapid Review 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 hyperholesterolemia (decreased LDL receptor signalling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichson syndrome (meningococcemia)

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4
Q

Anterior drawer sign +

A

Anterior cruciate ligament injury

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5
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Athlete with polycythemia

A

Secondary to EPO injection

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7
Q

Back pain, fever, night sweats, weight loss

A

Pott disease (vertebral TB)

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8
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granuloma)

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9
Q

Blue sclera

A

Osteogenesis imperfects (Type I collagen defect)

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10
Q

Bluish line on gingiva

A

Lead poisoning (Burton line)

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11
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (osteoblastic and osteoclastic activity)

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12
Q

Bounding pulses, diastolic <3 murmur, head bobbing

A

Aortic regurgitation

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13
Q

Butterfly facial rash, and Raynaud phenomenon in a young female

A

Systemic lupus erythmatosus

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14
Q

Cafe au lait spots, Lisch nodules (iris hamartoma)

A

Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)

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15
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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16
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne); X-linked recessive deletion of dystrophin gene)

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17
Q

Cherry red spots on macula

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: with moderate exertion; unstable: with minimal exertion

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19
Q

Chest pain, pericardial effusion, 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

Gowers sign (Duchenne muscular dystrophy)

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21
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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22
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal dominant CAG repeat expansion)

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23
Q

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

A

McArdle disease (muscle glycogen phosphorylase deficiency) Type V

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24
Q

Cold intolerance

A

Hypothyroidism

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25
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

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

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26
Q

Continuous machine like murmur

A

PDA (close with indomethacin; open or maintain with misoprostol)

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27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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28
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi’s sarcoma, associated with HHV-8

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29
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (DKA)

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30
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin, B3, deficiency)

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31
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine, B1 deficiency)

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32
Q

Dog or cat bite resulting in infection

A

Pasturella multocida (cellulitis at innoculation 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 SCC)

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35
Q

Elastic skin, hypermobility of joints

A

Elhers-Danlos syndrome (type III collagen defect)

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36
Q

Enlarged hard left supraclavicular node

A

Virchow node (abdominal mets)

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37
Q

Erythroderma, LAD, HSM, atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood

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38
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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39
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

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40
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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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 the soft tissue of the penis

A

Peyronie’s 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 from Wilson disease)

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46
Q

Hamartomous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

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47
Q

Hepatomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrocidase deficiency)

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48
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in type IV collagen)

49
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

50
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

51
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

52
Q

Hypoxemia, polycythemia, hypercapnia

A

Blue bloater (chronic bronchitis); hyperplasia of mucous cells)

53
Q

Indurated, ulcerated genital lesion

A

Painless: chancre (primary syphilis, Treponema pallidum) Painful + exudate (Haemophilus ducreyi)

54
Q

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

A

Patau syndrome (trisomy 13)

55
Q

Infant with FTT, HSM, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

56
Q

Infant with hypoglycemia, FTT, and hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease ( glucose-6-phosphate deficiency, more severe)

57
Q

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural <3 defect

A

Edwards syndrome (trisomy 18)

58
Q

Jaundice, palpable distended nontender gallbladder

A

Courvoisier sign (distal obstruction of the biliary tree)

59
Q

Large rash with bullseye appearance

A

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

60
Q

Lucid interval after TBI

A

Epidermal hematoma (middle meningeal artery rupture)

61
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

62
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIbIIIa)

63
Q

Muffled heart sounds, distended neck veins, hypotension

A

Becks triad of cardiac tamponade

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

Pompeii disease (lysosomal alpha-1-4 glucosidase deficiency)

66
Q

Neonate with arm paralysis folllowing difficult birth

A

Erb-Duchenne palsy (superior trunk C5/C6 brachial plexus injury, “waiter’s tip”)

67
Q

No lactation postpatrum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

68
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

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 caused by Mycoplasma pneumoniae, infectious mononucleosis)

71
Q

Painful, pale, cold fingers and toes

A

Raynaud phenomenon (vasospasm in extremities)

72
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infectious endocarditis, immune complex deposition)

73
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

74
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing the bile duct

75
Q

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

A

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

76
Q

Pancreatic, pituitary, and parathyroid tymors

A

Multiple endocrine neoplasia 1: autosomal dominant

77
Q

Periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

78
Q

Pink complexion, dyspnea, hyperventilation

A

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

79
Q

Polyuria, RTA type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (proximal tubular reabsorption defect)

80
Q

Pruritic, purple, polygonal planar papules and plaques (6Ps)

A

Lichen planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

82
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

83
Q

Rapidly progressive leg weakness that ascends following GI/URI

A

Guillan-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, RMSF

85
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job 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)

88
Q

Red itchy swollen rash of the nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

89
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

90
Q

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

A

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

91
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

92
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

93
Q

Severe jaundice in the neonate

A

Criggler-Najjar syndrome (congenital unconjugated hyperbilirubinemia

94
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

96
Q

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

A

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

97
Q

Single palmar crease

A

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

100
Q

Slow progressive muscle weakness in boys

A

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

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, XO

106
Q

Sudden swollen/painful big toe joint, tophi

A

Gout, podagra (hyperuricemia)

107
Q

Swollen gyms, mucosal bleeding, poor wound healing, petechiae

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 nodes], DIP [Herberden nodes]

109
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

110
Q

Thyroid, and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

111
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

112
Q

Toe extension, fanning upon plantar scrape

A

Babinski sign (UMN lesion)

113
Q

Unilateral facial drooping involving the forehead

A

Facial nerve (LMN CN VII palsy)

114
Q

Urethritis, conjunctivitisy, arthritis in a male

A

Reactive arthritis associated with HLA-B27

115
Q

Vascular birhtmark (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 disease (Tropheryma whipplei)

118
Q

Worst headache of my life

A

Subarachnoid hemorrhage

Pathology (15 decks)

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