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Flashcards in Classic Presentations EC Deck (124):
1

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

2

Achilles tendon xanthoma

Familial hypercholesterolemia (decreased LDL)

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 tuberculosis)

7

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

8

Blue sclera

Osteogenesis imperfecta (type I colagen defect)

9

Bluish line on gingiva

Burton's line (lead poisoning)

10

Bone pain, bone enlargement, arthritis

Paget's disease of bone (increased osteoblast AND osteoclastic activity)

11

Bounding pulses, diastolic heart murmur, head bobbing

aortic regurgitation

12

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

Systemic lupus erythematosus

13

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

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

14

Cafe-aulait spots, Lisch nodules (iris hamartoma)

Neurofibromatosis type 1 (pheochromocytoma, optic gliomas)

15

Calf pseudohypertrophy

Muscular dystrophy (usually Duchene'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

Agina (stable:w/ moderate exertion, unstable:w/ minimal exertion)

18

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

Dressler's syndrome (autoimmune-mediated post MI fibrinous pericarditis)

19

Child uses arms to stand up from squat

Gower's sign of Duchene's muscular dystrophy

20

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

"slapped cheeks" (erythema infectiosum: 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 (damage to MLF (median longitudinal fasciculus); Bilateral=MS, unilateral=stroke)

25

Continuous "machinery" like murmur

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

26

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Grave's disease)

27

Dark purple skin/mouth nodules

Kaposi's sarcoma (AIDS): associated with HHV-8

28

Deep labored breathing/hyperventilation

Kussmaul breathing (diabetic ketoacidosis)

29

Dermatitis, dementia, diarrhea

Pellagra (niacin/vit. B3 deficiency)

30

Dilated cardiomyopathy, edema, alcoholism, malnutrition

Wet beriberi (thiamine/vit. B1 deficiency)

31

Dog or cat bite resulting in infection

Pasteurella 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 SCC)

34

Elastic skin, hypermobile 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

Jarish-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 behavior in young 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

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

Pigmented lips/mucosa/hands/feet
Jejunal polyps

46

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Gaucher's disease (glucocerebrosidase deficiency)

47

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in alpha chain of collagen type IV)

48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

49

Hyperreflexia, hypertonia, Babinski sign +

Upper motor neuron damage

50

Hyporeflexia, hypotonia, atrophy, fasciculations

Lower motor neuron 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 w/ exudate: Chancroid (Harmophilus ducreyi)

53

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

Patau's syndrome (trisomy 13)

54

Infant with failure to thrive, hepatospenomegaly, and neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Cori's disease (debranching enzyme deficiency)

56

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

Edward's 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 lxodes 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 agammaglobinemia)

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 alpha-1,4-glucosidase deficiency)

65

Neonate with arm paralysis following difficult birth

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

66

No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarction)

67

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

68

Oscillating slow/fast breathing

Cheyne-Stokes respirations (central apnea in CHF or incraesed intra-cranial 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, abdominal pain (child), hematuria

Henoch-Schoulein 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 [alpha-antitrypsin deficiency])

78

Polyuria, renal tubular acidosis type II (proximal tubules), growth failure, electrolyte imbalances, hypophosphatemic rickets

Fanconi's syndrome (proximal tubular resorption defect)

79

Positive anterior drawer sign

ACL 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 polyneuopathy)

84

Rash on palms and soles

Coxackie A (hand-foot-mouth),
Secondary syphilis
Rocky Mountain spotted fever

85

Recurrent colds, unusual eczema, high serum IgE

Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality due to decreased interferon gamma)

86

Red "currant jelly" sputum in alcoholic or diabetic

Klebsiella pneumoniae

87

Red "currant jelly" stools

Acute mesenteric ischemia (adults)

Intussusception (infants)

88

Red, itchy, swollen rash of nipple/areola

Paget's disease of the breast (underlying DCIS)

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 (nigrostiatal dopamine depletion)

92

Retinal hemorrhages with pale center

Roth's spots (ENDOCARDITIS, leukemia, diabetes, pernicious anemia)

93

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia due to deficient UGT1A1)

94

Severe RLQ pain with palpation of 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 increased 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 lesion 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, lyphedema

Turner syndrome (45XO)

106

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

107

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

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

108

Swollen, hard, painful finger joints

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

109

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

110

Thyroid and parathyroid tumors, pheochromocytoma

MEN IIA (autosomal dominant ret mutation)

111

Thyroid tumors, pheochromocytoma, gangioneuromatosis, Marfanoid habitus

MEN IIB (autosomal dominant ret mutation)

112

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

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, 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

119

Urinary incontinence, ataxia, and cognitive dysfunction

Normal pressure hydrocephalus (increased CSF space with no increase in CSF pressure, distorts fibers of corona radiata)

"Wet, wobbly, and wacky"

120

Pain out of proportion to physical exam

Mesenteric ischemia

121

Double bubble on x-ray

Duodenal atresia (non-bilious vomiting 1st day of life- associated with Down's)

122

Ataxia, Telangiectasia (spider angiomas), and IgA deficiency

Ataxia-Telangiectasia
(defect in ATM gene resulting in failure to repair double-stranded DNA breaks)

123

Thrombocytopenic purpura, Infections, Eczema

Wiskott-Aldrich syndrome
(Mutation in WAS gene- increased IgE and IgA)

124

Infections of liver capsule with "violin string" adhesions of parietal peritoneum to liver

Fitz-Hugh-Curtis syndrome
(complication of PID)

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