Classic Presentations Flashcards Preview

Step 1 > Classic Presentations > Flashcards

Flashcards in Classic Presentations Deck (118):
1

Abdominal pain, ascites, hepatomegaly

Budd-Chiari Syndrome (posthepatic venous thrombosis)

2

Achilles tendon xanthoma

Familial hypercholesterolemia (decreased LDL-R signaling)

3

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan's syndrome (fibrillin defect)

5

Athlete with polycythemia

Secondary to EPO injection

6

Back pain, fever, night sweats, weight loss

Pott's disease (vertebral TB)

7

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

8

Blue sclera

Osteogenesis imperfecta (type I collagen defect)

9

Bluish line on gingiva

Burton's line (lead poisoning)

10

Bone pain, bone enlargement, arthritis

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

11

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

12

"Butterfly" facial rash, Raynaud's phenomenon in a young female

SLE

13

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

Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)

14

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

McCune-Albright syndrome (mosaic G protein signaling mutation)

15

Calf pseudohypertrophy

Muscular dystrophy (typically Duschenne's): X linked recessive deletion of dystrophin gene

16

"Cherry red spots" on macula

Tay-Sachs (ganglioside accumulation)
OR
Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

17

Chest pain on exertion

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

18

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)

19

Child uses arms to stand up from squat

Gowers' sign (Duschenne muscular dystrophy)

20

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

"Slapped cheeks" (erythema infectiosum/fifth disease)
Parvovirus B19

21

Chorea, dementia, caudate degeneration

Huntington's disease (autosomal dominant CAG repeat expansion)

22

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

McArdle's disease (muscle glycogen phosphorylase deficiency)

23

Cold intolerance

Hypothyroidism

24

Conjugate lateral gaze palsy, horizontal diplopia

Internuclear ophthalmoplegia (MLF damage; bilateral = MS, unilateral = stroke)

25

Continuous "machinery" heart murmur

PDA (close with indomethacin, keep open with misoprostol)

26

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, pretibial = Graves' disease)

27

Dark purple skin/mouth nodules (also, associated with what virus?)

Kaposi's sarcoma (AIDS defining, associated with HHV8)

28

Deep labored breathing/hyperventilation

Kussmaul breathing (DKA)

29

Dermatitis, dementia, diarrhea

Pellagra (niacin B3 deficiency)

30

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine B1 deficiency)

31

Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at innoculation site)

32

Dry eyes, dry mouth, arthritis

Sjogren's syndrome (autoimmune destruction of exocrine glands)

33

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

34

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (type III collagen defect)

35

Enlarged, hard left supraclavicular node

Virchow's node (abdominal metastasis)

36

Erythroderma, lymphadenopathy, HSM, atypical T cells

Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides

37

Facial muscle spasm upon tapping

Chvostek's sign (hypOcalcemia)

38

Fat, female, forty, fertile

Cholelithiasis

39

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

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

40

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles (Morbillivirus)

41

Fever, night sweats, weight loss

B symptoms (staging) of lymphoma

42

Fibrous plaques in soft tissue of penis

Peyronie's disease (connective tissue disorder)

43

Gout, mental retardation, self mutilating behaviour in a boy

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

44

Green-yellow rings around peripheral cornea

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

45

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

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

46

HSM, osteoporosis, neurologic sx

Gaucher's disease (glucocerebrosidase deficiency)

47

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in alpha chain of collagen IV)

48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

49

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

50

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

51

Hypoxemia, polycythemia, hypercapnia

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

52

Indurated, ulcerated genital lesion

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

53

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

Patau's syndrome (trisomy 13)

54

Infant with failure to thrive, HSM, and neurodegeneration

Niemann-Pick (genetic sphingomyelinase deficiency)

55

Infant with hypoglycemia, failure to thrice, hepatomegaly

Cori's disease (debranching enzyme deficiency

56

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

Edwards' syndrome (trisomy 18)

57

Jaundice, palpable distended non-tender gallbladder

Courvoisier's sign (distal obstruction of biliary tree)

58

Large rash with bull's eye appearance

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

59

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

60

Male child, recurrent infections, no mature B cells

Bruton's disease (X-linked agammaglobulinemia)

61

Mucosal bleeding and prolonged bleeding time

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

62

Muffled heart sounds, distended neck veins, hypotension

Beck's triad of cardiac tamponade

63

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

Gardner's syndrome (subtype of FAP)

64

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

65

Neonate with arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk (C5-6) brachial plexus injury, "waiter's tip")

66

No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarct)

67

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

MS

68

Oscillating slow/fast breathing

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

69

Painful blue fingers/toes, hemolytic anemia

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

70

Painful, pale, cold fingers/toes

Raynaud's phenomenon (vasospasm in extremities)

71

Painful, raised red lesions on pad of fingers/toes

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

72

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

73

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

74

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

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

75

Pancreatic, pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

76

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Nephrotic syndrome

77

Pink complexion, dyspnea, hyperventilation

"Pink puffer" (emphysema: centriacinar = smoking, panacinar = a1 antitypsin deficiency)

78

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

Fanconi's syndrome (proximal tubular reabsorption defect)

79

Positive anterior "drawer sign"

Anterior cruciate ligament injury

80

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

Lichen planus

81

Ptosis, miosis, anhidrosis

Horner's syndrome (sympathetic chain lesion)

82

Pupil accommodates but doesn't react

Argyll Robertson pupil (neurosyphilis)

83

Rapidly progressive leg weakness that ascends following GI/Upper respiratory infection

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84

Rash on palms and soles

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

85

Recurrent colds, unusual eczema, high serum IgE

Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)

86

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

87

Red "currant jelly" stools

Acute mesenteric ischemia (adults), intussusception (infacts)

88

Red, itchy, swollen rash of nipple/areola

Paget's disease of the breast (represents underlying neoplasm)

89

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

90

Renal cell carcinoma (bilateral) hemangioblastomas, angiomatosis, pheochromocytoma

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

91

Resting tremor, rigidity, akinesia, postural instability

Parkinson's disease (nigrostriatal dopamine depletion)

92

Retinal hemorrhages with pale centers

Roth's spots (bacterial endocarditis)

93

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

94

Severe RLQ pain with palpation LLQ

Rovsing's sign (acute appendicitis)

95

Severe RLQ pain with rebound tenderness

McBurney's sign (appendicitis)

96

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

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

97

Single palmar crease

Simian crease (Down syndrome)

98

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener's syndrome (dynein arm defect affecting cilia)

99

Skin hyperpigmentation, hypotension, fatigue

Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)

100

Slow, progressive muscle weakness in boys

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

101

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Koplik spots (measles; rubeola virus)

102

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (secondary syphilis)

103

Splinter hemorrhages in fingernails

Bacterial endocarditis

104

Strawberry tongue

Scarlet fever, Kawasaki disease, toxic shock syndrome

105

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

Turner syndrome (45,XO)

106

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

107

Swollen gums, mucosal bleeding, poor wound healing, spots on skin

Scurvy (vit C def: can't hydroxylate proline/lysine for collagen synthesis)

108

Swollen, hard, painful finger joints

Osteoarthritis (osteophytes on PIP (Bouchard's nodes), DIP (Heberden's nodes))

109

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

110

Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant ret mutation)

111

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

112

Toe extension/fanning upon plantar scrape

Babinski sign (UMN sign)

113

Unilateral facial drooping involving forehead

Facial nerve (LMN CN VII palsy)

114

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

115

Vascular birthmark (port-wine stain)

Hemangioma (benign, but associated with Sturge-Weber syndrome)

116

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

117

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's disease (Tropheryma whipplei)

118

Worst headache of my life

Subarachnoid hemorrhage