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Rapid Review STEP 1 > Classic Presentations > Flashcards

Classic Presentations Flashcards

Classic presentation

1
Q

Classic presentation

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Classic presentation

Achilles Tendon xanthoma

A

Familial Hypercholesterolemia ( \/ LDL receptor signaling)

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3
Q

Classic presentation

Adrenal hemorrorhage, hypotension, DIC

A

Waterhous-Friderichsen syndrome (meningococcemia)

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4
Q

Classic presentation

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrilin defect)

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5
Q

Classic presentation

Athlete with polycythemia

A

Erythropoetin injection

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6
Q

Classic presentation

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

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7
Q

Classic presentation

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis ( noncaseating granulomas)

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8
Q

Classic presentation

Blue sclera

A

Osteogenesis imperfecta (collagen defect)

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9
Q

Classic presentation

Bluish line on gingiva

A

Burton’s line (lead poisoning)

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10
Q

Classic presentation

Bone pain, bone enlargement, arthitis

A

Paget’s disease of bone (/\ osteoblastic and osteoclastic activity)

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11
Q

Classic presentation

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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12
Q

Classic presentation

“Butterfly” facial rash and Raynaud’s phenomenon in young female

A

SLE (Systemic Lupus Erythematosus)

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13
Q

Classic presentation

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

A

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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14
Q

Classic presentation

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene

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15
Q

Classic presentation

“Cherry-red spot” on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusionsdf

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16
Q

Classic presentation

Chest pain on exertion

A

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

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17
Q

Classic presentation

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

Classic presentation

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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19
Q

Classic presentation

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

Classic presentation

Chorea, dementia, caudate degeneration

A

Huntington’s disease (Auto DOMINANT CAG repeat expansion)

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21
Q

Classic presentation

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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22
Q

Classic presentation

Cold intolerance

A

Hypothyroidism

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23
Q

Classic presentation

Conjugate lateral gaze palsy, horizontal diplopia

A

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

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24
Q

Classic presentation

Continuous “machinery” heart murmur

A

PDA (close with indomethacin; open with misoprostol)

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25
Q

Classic presentation

Cutaneous/dermal edema due to connective tissue deposition

A

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

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26
Q

Classic presentation

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients [gay men]: a/w HHV-8)

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27
Q

Classic presentation

Deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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28
Q

Classic presentation

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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29
Q

Classic presentation

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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30
Q

Classic presentation

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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31
Q

Classic presentation

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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32
Q

Classic presentation

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

33
Q

Classic presentation

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

34
Q

Classic presentation

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

35
Q

Classic presentation

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

36
Q

Classic presentation

Facial muscle spasm upon tapping

A

Chvostek’s sign (HYPOcalcemia)

37
Q

Classic presentation

Fat, female, forty, and fertile

A

Acute cholelithiasis (bile duct blockage)

38
Q

Classic presentation

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

A

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

39
Q

Classic presentation

Fever, cough, conjectivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

40
Q

Classic presentation

Fever, night sweats, weight loss

A

B symptoms (lymphoma)

41
Q

Classic presentation

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

42
Q

Classic presentation

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

A

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

43
Q

Classic presentation

Green-yellow rings around peripheral cornea

A

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

44
Q

Classic presentation

Hamartomous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

45
Q

Classic presentation

Hepatosplenomegaly, osteoporosis (bone crises), neurologic symptoms, macrophages that look like crumpled tissue paper

A

Gaucher’s disease (glucocerebrosidase deficiency)

the most common lysosomal storage disease

46
Q

Classic presentation

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutations in Alpha chain of collagen IV)

47
Q

Classic presentation

Hypercoagulability (leading to migrating DVT’s and vasculitis)

A

Trousseau’s syndrome (adenocarcinoma of pancrease or lung)

48
Q

Classic presentation

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

Classic presentation

Hypertension, hypokalemia, metab olic alkalosis

A

Conn’s syndrome

50
Q

Classic presentation

Hyporeflexia, hypotonia, atrophy

A

LMN damage

51
Q

Classic presentation

Hypoxemia, polycythemia, hypercapnia

A

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

52
Q

Classic presentation

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1’ syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

53
Q

Classic presentation

Infant with failure to thrive, hepatosplenomagaly, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

54
Q

Classic presentation

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

55
Q

Classic presentation

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

A

Edward’s syndrome (trisomy 18)

56
Q

Classic presentation

Keratin pearls on a skin biopsy

A

Squamous cell carcinoma

57
Q

Classic presentation

Large rash with bull’s-eye appearance

A

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

58
Q

Classic presentation

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

59
Q

Classic presentation

Male child, reccurent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

60
Q

Classic presentation

Mucosal bleeding and prolonged bleeding time

A

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

61
Q

Classic presentation

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

A

Gardner’s syndrome (subtype of FAP)

62
Q

Classic presentation

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

63
Q

Classic presentation

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

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

64
Q

Classic presentation

Neonate with arm paralysis following difficult birth

A

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

65
Q

Classic presentation

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

66
Q

Classic presentation

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

67
Q

Classic presentation

Oscilating slow/fast breathing

A

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

68
Q

Classic presentation

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hymolytic anemia caused by Mycoplasma pneumoniase, infectious mononucleosis)

69
Q

Classic presentation

Painful, pale, cold fingers/toes

A

Raynaud’s syndrome (vasospasm in extremities)

70
Q

Classic presentation

Painful, raised red lesions on palms and soles

A

Osler’s node (infective endocarditis)

71
Q

Classic presentation

PainLESS erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

72
Q

Classic presentation

Painless jaundice

A

Cancer of the Pancreatic head obstructing bile duct

73
Q

Classic presentation

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

A

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

74
Q

Classic presentation

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (auto DOMINANT)

75
Q

Classic presentation

Pink complexion, dyspnea, hyperventilation

A

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

76
Q

Classic presentation

Polyuria, renal tubular acidosis type II, growth fa ilure,

electrolyte imbalances, hypophosphatem ic rickets

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

77
Q

Classic presentation

Posistive anterior “drawer sign”

A

Anterior cruciate ligament (ACL) injury

78
Q

Classic presentation

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

Rapid Review STEP 1 (13 decks)

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