Rapid Review: Classic Presentations Flashcards Preview

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Flashcards in Rapid Review: Classic Presentations Deck (115):
1

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

2

Achilles tendon xanthoma

Familial hypercholesterolemia (decreased LDL signaling)

3

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friederichsen syndrome (meningococcemia)

4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan's syndrome (fibrillin defect)

5

Athlete with polycythemia

Secondary to erythropoietin 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 (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 and Raynaud's phenomenon in a young female

SLE

13

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

NF1 (+ 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 (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene

16

Cherry-red spot 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

Gower's sign (Duchenne's muscular dystrophy)

20

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

Slapped checks (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 opthalmoplegia (damage to MLF; bilateral --> multiple sclerosis, unilateral --> stroke)

25

Continuous machinery heart murmur

PDA (close with indomethicin; open or maintain with misoprostol)

26

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Graves' disease [pretibial])

27

Dark purple skin/mouth nodules

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

28

Deep, labored breathing/hyperventilation

Kussmaul breathing (DKA)

29

Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

30

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine [vitamin B1] deficiency)

31

Dog or cat bite resulting in infection

Pasturella multocida (cellulitis at inoculation 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, hepatosplenomegaly, 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, and fertile

Cholelithiasis (gallstones)

39

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

Jarisch0Herzheimer 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 behavior in a boy

Lesch-Nyan 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, mainly GI)

46

Hepatosplenomegaly, osteroporosis, neurologic symptoms

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

49

Hyporeflexia, polycythemia, hypercapnia

Blue bloater (chronic bronchitis: hyperplasia of mucous cells)

50

Indurated, ulcerated genital lesion

Nonpainful: chancre (primary syphilis, Treponema pallidum); painful with exudate: chanchroid (Haemophilus ducreyi)

51

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

Patau's syndrome (trisomy 13)

52

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

53

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Cori's disease (debranching enzyme deficiency)

54

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

Edward's syndrome (trisomy 18)

55

Jaundice, palpable distended non-tender gallbladder

Courvoisier's sign (distal obstruction of biliary tree)

56

Large rash with bull's eye appearance

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

57

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

58

Male child, recurrent infections, no mature B cells

Bruton's disease (X-linked agammaglobulinemia)

59

Mucosal bleeding and prolonged bleeding time

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

60

Muffled heart sounds, distended neck veins, hypotension

Beck's triad of cardiac tamponade

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

Neonate with arm paralysis following difficult birth

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

64

No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarction)

65

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

MS

66

Oscillating slow/fast breathing

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

67

Painful blue fingers/toes, hemolytic anemia

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

68

Painful, pale, cold fingers/toes

Raynaud's phenomenon (vasospasm in extremities)

69

Painful, raised red lesions on pad of fingers/toes

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

70

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

71

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

72

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

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

73

Pancreatic, pituitary, parathyroid tumors

MEN1 (autosomal dominant)

74

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

Nephrotic syndrome

75

Pink complexion, dyspnea, hyperventilation

Pink puffer (emphysema: centriacinar [smoking], panacinar [alpha-1 antitrypsin deficiency])

76

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

Fanconi's syndrome (proximal tubular reabsorption defect)

77

Positive anterior drawer sign

Anterior cruciate ligament injury

78

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

Lichen planus

79

Ptosis, miosis, anhidrosis

Horner's syndrome (sympathetic chain lesion)

80

Pupil accomodates but doesn't react

Argyll-Robertson pupil (neurosyphilis)

81

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

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

82

Rash on palms and soles

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

83

Recurrent colds, unusual eczema, high serum IgE

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

84

Red currant jelly sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

85

Red currant jelly stools

Acute mesenteric ischemia (adults), intussusception (infants)

86

Red, itchy, swollen rash of nipple/areola

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

87

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

88

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

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

89

Resting tremor, rigidity, akinesia, postural instability

Parkinson's disease (nigrostriatal dopamine depletion)

90

Retinal hemorrhages with pale centers

Roth's spots (bacterial endocarditis)

91

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

92

Severe RLQ pain with rebound tenderness

McBurney's sign (appendicitis)

93

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

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

94

Single palmar crease

Simian crease (Down syndrome)

95

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener's syndrome (dynein arm defect affecting cilia)

96

Skin hyperpigmentation, hypotension, fatigue

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

97

Slow, progessive muscle weakness in boys

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

98

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

Koplik spots (measles; rubeola virus)

99

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (secondary syphilis)

100

Splinter hemorrhages in fingernails

Bacterial endocarditis

101

Strawberry tongue

Scarlet fever, Kawasaki disease, toxic shock syndrome

102

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

Turner syndrome (45,XO)

103

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

104

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

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

105

Swollen, hard, painful finger joints

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

106

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

107

Thyroid and parathyroid tumors, pheochromocytoma

MEN2A (autosomal dominant ret mutation)

108

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN2B (autosomal dominant ret mutation)

109

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

110

Unilateral facial drooping involving forehead

Facial nerve (LMN CN VII palsy)

111

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

112

Vascular birthmark (port-wine stain)

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

113

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

114

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's disease (Tropheryma whipplei)

115

Worst headache of my life

Subarachnoid hemorrhage

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