Classic Presentations Flashcards Preview

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Flashcards in Classic Presentations Deck (117):
1

Abdominal pain, ascites, hepatosplenomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

2

Achilles tendon xanthoma

Familial hypercholesterolemia (low LDLR signaling)

3

Adrenal hemorrhage, hypotension, DIC (disseminated intravascular coagulation)

Waterhouse-Friderichsen syndrome (meningococemia)

4

Arachnodactyly (slender fingers), 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 1 collagen defect)

9

Bluish line of 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 in a young female

SLE

13

Café au Lait spots and Licsh nodules (iris hamartoma)

Neurofibromatosis type I (+pheochromocytoma, optic gliomas)

14

Café au Lait spots, polyostotic fibrous dysplasia, percocious puberty, multiple endocrine abnormalities

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

15

Calf pseudohypertrophy

Muscular dystrophy (usually Duchenne's); X-linked recessive deletion of the dystrophin gene

16

"Cherry-red spot" on macula

Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion

17

Chest pain on exertion

Angina (stable if with moderate exertion, unstable if with minimal exertion)

18

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

Dressler's syndrome--autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wk after acute episode)

19

Child using arms to stand up from squat

Gowers' sign--Duchenne musclar dystrophy

20

Child with fever later develops red rash on face that spreads to the 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 opthalmoplegia (damage to MLF; bilateral with multiple sclerosis and unilateral with stroke)

25

Continuous 'machinery' heart murmur

PDA (close with indomethacin, open with misoprostol (PGE)

26

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Grave's disease (pretibial))

27

Dark purple skin/mouth nodules

Kaposi's sarcoma (usually AIDS patients, associated with HHV-8)

28

Deep, labored breathing/hyperventilation

Kussmaul breathing (diabetic ketoacidosis)

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 an 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 squamous cell carcinoma)

34

Elastic skin, hypermotility 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 tx for syphilis

Jarisch-Herxheimer reaction (rapid loss of spirochetes resulting in toxin release)

40

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles (Morbillivirus)

41

Fever, night sweats, weigh 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-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, mainly GI)

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 IV)

48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

49

Hyperreflexia, hypertonia, Babinski sign

UMN damage

50

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

51

Hypoxemia, polycythemia, hypercapnia

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

52

Indurated, ulcerated genital lesion
- Nonpainful
- Painful

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, hepatosplenomegaly, 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

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 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 opthalmoplegia

Multiple sclerosis

68

Oscillating slow/fast breathing

Cheyne-Strokes 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 the pads of fingers and toes

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

72

Painful, erythematous lesions on the palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

73

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

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

74

Pancreatic, pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

75

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

Nephrotic syndrome

76

Pink complexion, dyspnea, hyperventilation

"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency)

77

Poyuria, renal tubular acidosis type II, growth failure, electrolyte abnormalities, hypophosphatemic rickets

Fanconi's syndrome (proximal tubular reabsorption defect)

78

Positive anterior drawer sign

ACL tear

79

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

Lichen planus

80

Ptosis, miosis, anhydrosis

Horner's syndrome (sympathetic chain lesion)

81

Pupil accommodates but does not react

Argyll Robertson pupil (neurosypilis)

82

Rapidly progressive leg weakness that ascends following GI/URT infection

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polynephropathy)

83

Rash on palms and soles

Coxsackie A
Secondary syphilis
Rocky mountain spotted fever

84

Recurrent colds, unusual eczema, high serum IgE

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

85

Red "current jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

86

Red "current jelly" stools

Acute mesenteric ischemia (adults)
Intussusception (infants)

87

Red, itchy, swollen rash of nipple/areola

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

88

Red urine in the morning, fragile RBSs

Paroxysmal nocturnal hemoglobinuria

89

Bilateral renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma

von Hippel Lindau disease (dominant tumor supressor gene mutation)

90

Resting tremor, rigidity, akinesia, postural instability

Parkinson's disease (nigrostriatal dopamine depletion)

91

Retinal hemorrhages with pale centers

Roth's spots (bacterial endocarditis)

92

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

93

Severe RLQ pain with palpation of LLQ

Rovsing's sign (acute appendicitis)

94

Severe RLQ pain with rebound tenderness

McBurney's sign (appendicitis)

95

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

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

96

SIngle palmar crease

Simian crease (Down syndrome)

97

Situs inversus, chronic sinusitis, bronciectasis, infertility

Kartagener's syndrome (dynein arm defect affecting cilia)

98

Skin hyperpigmentation, hypotension, fatigue

Addison's disease (primary adrenal insufficiency causing high ACTH and increased alpha MSH production)

99

Slow, progressive muscle weakness in boys

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

100

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

Koplik spots (measles; rubeola virus)

101

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (secondary syphilis)

102

Splinter hemorrhages in fingernails

Bacterial endocarditis

103

"Strawberry tongue"

Scarlet fever
Kawasaki disease
Toxic shock syndrome

104

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

Turner syndrome (45,XO)

105

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

106

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

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

107

Swollen, hard, painful finger joints

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

108

Systolic ejection murmur (crescendo-decrescendo)

Aortic stenosis

109

Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant ret mutation)

110

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

111

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

112

Unilateral facial drooping involving the forehead

Facial nerve (LMN CN VII) palsy

113

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

114

Vascular birthmark (port-wine stain)

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

115

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

116

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's disease (Tropheryma whipplei)

117

"Worst headache of my life"

Subarachnoid hemorrhage