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FIRST AID Rapid Review > 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-Friderichsen 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 erythropoietin 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

Blue sclera

A

Osteogenesis imperfecta (type I collagen)

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9
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increaesed osteo - blastic/clastic 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 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, 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): X-linked recessive deletion of dystrophin gene

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16
Q

“Cherry-red spots” 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 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

Gowers 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 disease (autosomal dominant CAG repeat expansion)

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22
Q

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

A

McArdle 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 - MS, unilateral - stroke

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25
Q

Continuous “machine-like” 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 in a patient with AIDS

A

Kaposi Sarcoma, associated with HHV-8

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28
Q

Deep labored breathing/hyperventilation

A

Kussmaul respirations (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 bit resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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32
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

34
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

35
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

37
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

38
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

39
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphillis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

40
Q

Fever, cough, conjuctivitis, coryza, diffuse rash

A

Measles (Rubeola)

41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connective tissue disorder)

43
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

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

44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased CA, mainly GI)

46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, Babinksi sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

51
Q

Hypoxemia, polycythemia, hypercapnia

A

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

52
Q

Indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis, treponema pallidum) – Painful w/ exudate: chanroid (Haemophilus ducreyi)

53
Q

infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13)

54
Q

Infant with failure to thrive, hepatosplenomegaly and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

Infant w/ hypoglycemia, failure to thrive, and hepatomegaly

A

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

56
Q

Infant w/ 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 sign (distal obstruction of biliary tree)

58
Q

Large rash with bull’s-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)

60
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

61
Q

Mucosal bleeding and prolonged bleeding time

A

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

62
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

63
Q

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

A

Gardner syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal a-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 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 caused by mycoplasma pneumoniae, infectious mononucleosis)

70
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenom

71
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

72
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (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, hyperchoesterolemia

A

Nephrotic syndrome

77
Q

Pink complexion, dyspnea, hyperventiliation

A

“Pink puffer” (emphysema: centriacinar (smoking), panacinar (a1-antitrypsin deficiency)

78
Q

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

A

Fanconi syndrome (proximal tubular reabsorption defect)

FIRST AID Rapid Review (1 decks)

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