Classic Presentations Flashcards Preview

Rapid Review STEP 1 > Classic Presentations > Flashcards

Flashcards in Classic Presentations Deck (78):
1

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

2

Achilles Tendon xanthoma

Familial Hypercholesterolemia ( \/ LDL receptor signaling)

3

Adrenal hemorrorhage, hypotension, DIC

Waterhous-Friderichsen syndrome (meningococcemia)

4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan's syndrome (fibrilin defect)

5

Athlete with polycythemia

Erythropoetin injection

6

Back pain, fever, night sweats, weight loss

Pott's disease (vertebral tuberculosis)

7

Bilateral hilar adenopathy, uveitis

Sarcoidosis ( noncaseating granulomas)

8

Blue sclera

Osteogenesis imperfecta (collagen defect)

9

Bluish line on gingiva

Burton's line (lead poisoning)

10

Bone pain, bone enlargement, arthitis

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

11

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

12

"Butterfly" facial rash and Raynaud's phenomenon in young female

SLE (Systemic Lupus Erythematosus)

13

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

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

14

Calf pseudohypertrophy

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

15

"Cherry-red spot" on macula

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

16

Chest pain on exertion

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

17

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

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

18

Child uses arms to stand up from squat

Gower's sign (Duchenne muscular dystrophy)

19

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

"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)

20

Chorea, dementia, caudate degeneration

Huntington's disease (Auto DOMINANT CAG repeat expansion)

21

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

McArdle's disease (muscle glycogen phosphorylase deficiency)

22

Cold intolerance

Hypothyroidism

23

Conjugate lateral gaze palsy, horizontal diplopia

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

24

Continuous "machinery" heart murmur

PDA (close with indomethacin; open with misoprostol)

25

Cutaneous/dermal edema due to connective tissue deposition

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

26

Dark purple skin/mouth nodules

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

27

Deep, labored breathing/hyperventilation

Kussmaul breathing (diabetic ketoacidosis)

28

Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

29

Dilated cardiomyopathy, edema, polyneuropathy

Wet beriberi (thiamine [vitamin B1] deficiency)

30

Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

31

Dry eyes, dry mouth, arthritis

Sjogren's syndrome (autoimmune destruction of exocrine glands)

32

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

33

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (type III collagen defect)

34

Enlarged, hard left supraclavicular node

Virchow's node (abdominal metastasis)

35

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

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

36

Facial muscle spasm upon tapping

Chvostek's sign (HYPOcalcemia)

37

Fat, female, forty, and fertile

Acute cholelithiasis (bile duct blockage)

38

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

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

39

Fever, cough, conjectivitis, coryza, diffuse rash

Measles (Morbillivirus)

40

Fever, night sweats, weight loss

B symptoms (lymphoma)

41

Fibrous plaques in soft tissue of penis

Peyronie's disease (connective tissue disorder)

42

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

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

43

Green-yellow rings around peripheral cornea

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

44

Hamartomous GI polyps, hyperpigmentation of mouth/feet/hands

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

45

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

Gaucher's disease (glucocerebrosidase deficiency)

the most common lysosomal storage disease

46

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutations in Alpha chain of collagen IV)

47

Hypercoagulability (leading to migrating DVT's and vasculitis)

Trousseau's syndrome (adenocarcinoma of pancrease or lung)

48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

49

Hypertension, hypokalemia, metab olic alkalosis

Conn's syndrome

50

Hyporeflexia, hypotonia, atrophy

LMN damage

51

Hypoxemia, polycythemia, hypercapnia

"blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

52

Indurated, ulcerated genital lesion

Nonpainful: chancre (1' syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

53

Infant with failure to thrive, hepatosplenomagaly, neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

54

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Cori's disease (debranching enzyme deficiency)

55

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

Edward's syndrome (trisomy 18)

56

Keratin pearls on a skin biopsy

Squamous cell carcinoma

57

Large rash with bull's-eye appearance

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

58

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

59

Male child, reccurent infections, no mature B cells

Bruton's disease (X-linked agammaglobulinemia)

60

Mucosal bleeding and prolonged bleeding time

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

61

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

Gardner's syndrome (subtype of FAP)

62

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

63

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

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

64

Neonate with arm paralysis following difficult birth

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

65

No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarction)

66

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

67

Oscilating slow/fast breathing

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

68

Painful blue fingers/toes, hemolytic anemia

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

69

Painful, pale, cold fingers/toes

Raynaud's syndrome (vasospasm in extremities)

70

Painful, raised red lesions on palms and soles

Osler's node (infective endocarditis)

71

PainLESS erythematous lesions on palms and soles

Janeway lesions (infective endocarditis)

72

Painless jaundice

Cancer of the Pancreatic head obstructing bile duct

73

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

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

74

Pancreatic, pituitary, parathyroid tumors

MEN 1 (auto DOMINANT)

75

Pink complexion, dyspnea, hyperventilation

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

76

Polyuria, renal tubular acidosis type II, growth fa ilure,
electrolyte imbalances, hypophosphatem ic rickets

Fanconi's syndrome (proximal tubular reabsorption defect)

77

Posistive anterior "drawer sign"

Anterior cruciate ligament (ACL) injury

78

Ptosis, miosis, anhidrosis

Horner's syndrome (sympathetic chain lesion)