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First Aid Rapid Reviews > 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 (decr LDL receptor signaling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen syndrome (meningococcemia)

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4
Q

Arachnodactyly (fingers are long, slender, and curved. They look like a spider’s legs), lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

secondary to 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 (non-caseating granuloma)

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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

Burtons line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of bone (incr 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 a young woman

A

Systemic lupus erythematosus

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13
Q

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

A

Neurfibromatosis type I (+ pheochromcytoma, 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 (Duchenne’s most commonly): X-linked deletion of dystrophin gene

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16
Q

“Cherry-red spot” 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 minor exertion)

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18
Q

Chest pain, pericardial effusion, persistent fever following MI

A

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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19
Q

Child uses arms to stan up from squat

A

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

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22
Q

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

A

McArdle’s 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 [multiple sclerosis], unilateral [stroke])

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25
Q

Continuous “machinery” 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, Grave’s disease [pretibial])

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27
Q

Dark purple skin/ mouth nodules

A

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

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28
Q

Deep, labored breathing/ hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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29
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [B3] deficiency)

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30
Q

Dilated cardiomyopathy, edema, alcholism or malnutrition

A

Wet beriberi (thiamine [B1] deficiency)

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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32
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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34
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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35
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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36
Q

Erythroderma, lympadenopathy, hepatosplenomegaly, atypical T cells

A

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

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37
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

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39
Q

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

A

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

40
Q

Fever, cough, conjunctivitis, coryza (an acute inflammatory contagious disease involving the upper respiratory tract), diffuse rash

A

Measles (Morbillivirus)

41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

42
Q

Fibrous plaques in the soft tissue of the penis

A

Peyronie’s disease (connective tissue disorder)

43
Q

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

A

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

44
Q

Green-yellow rings arond peripheral cornea

A

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

45
Q

Hamartomatous GI polyps, hyperpigmentation of hands/ feet/ mouth

A

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

46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (Glucocerebrosidase deficiency)

47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-bucy syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

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 with exudate: chancroid (Haemophilus ducreyi)

53
Q

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

A

Patau’s syndrome (trisomy 13)

54
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

56
Q

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

A

Edward’s syndrome (trisomy 18)

57
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s 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/head injury

A

Epidural hematoma (middle meningeal artery rupture)

60
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

61
Q

Mucosal bleeding and prolonged bleeding time

A

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

62
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

63
Q

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

A

Gardner’s syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

65
Q

Neonate with arm paralysis following difficult birth

A

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

66
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s 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 cause by Mycoplasma pneumonia, infectious mononucleosis)

70
Q

Painful, pale, cold fingers/ toes

A

Raynaud’s phenomenon (vasospasm in extremities)

71
Q

Painful, raised red lesions on pad of fingers/ toes

A

Osler’s node (infective endocarditis, immune complex deposition)

72
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infectious endocarditis, septic emboli/ microabscesses)

73
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing the bile duct

74
Q

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

A

Henoch-Schoenlein 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, hypercholesterolemia

A

Nephrotic syndrome

77
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])

78
Q

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

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament injury

80
Q

Pruritic, purple, polygonal planar papules and plaques (6 P’s)

A

Lichen planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain)

82
Q

Pupil accommodates but doesn’t react to light

A

Argyll Robertson pupil (neurosyphilis)

83
Q

Rapidly progressing leg weakness that ascends following GI/ upper respiratory tract infection.

A

Guillain-Barre’ syndrome (acute autoimmune 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

Hyper IgE syndrome (Job’s 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), intussusception (infants)

88
Q

Red, itchy, swollen rash of nipple/ areola

A

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

89
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

90
Q

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

A

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

91
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

92
Q

Retinal hemorrages with pale centers

A

Roth spots (bacterial endocarditis)

93
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

94
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing’s sign (acute appendicitis)

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

First Aid Rapid Reviews (1 decks)

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