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Classic Presentation Flashcards

1
Q

Achilles tendon xanthoma

Decrease LDL receptor signaling

A

Familial hypercholesterolemia

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2
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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3
Q

Anterior “drawer sign” +

A

ACL Injury

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexibility joints

A

Marfan Syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott disease (vertebral TB)

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7
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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8
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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9
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

Increase in osteoblastic and osteoclastic activity

A

Paget disease of bone

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11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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12
Q

“Butterfly” facial rash and Raynaud phenomenon in a young female

A

SLE

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13
Q

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

A

Neurofibromatosis type I ( + pheochromocytoma, optic gliomas)

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14
Q

Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Mosaic G-protein signaling mutation

A

McCune-Albright syndrome

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15
Q

Calf pseudohypertrophy
Most common muscular dystrophy
X-linked recessive

A

Duchenne (dystrophin gene defect)

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16
Q

“Cherry-red spots” on macula

A

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

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17
Q

Chest pain on exertion

A

Angina (stable: with mod exertion; unstable: with min exertion)

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18
Q

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

A

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

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19
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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20
Q

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

A

Erythema infectiosum
Fifth disease
Parvovirus B19

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21
Q

Chorea, dementia, caudate degeneration

Autosomal dominant CAG repeat expansion

A

Huntington disease

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22
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Muscle glycogen phosphorylase deficiency

A

McArdle disease

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23
Q

Cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

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

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25
Q

Continuous “machine-like” heart murmur

A

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

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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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27
Q

Dark purple skin/mouth nodules in a patient with AIDS

Associated with HHV-8

A

Kaposi sarcoma

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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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29
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin deficiency)

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30
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine deficiency)

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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32
Q

Dry eyes, dry mouth, arthritis

Autoimmune destruction of exocrine glands

A

Sjögren syndrome

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33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia
May progress to esophageal squamous cell carcinoma

A

Plummer-Vinson syndrome

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34
Q

Elastic skin, hyper mobility of joints

Type III collagen defect

A

Ehlers-Danlos syndrome

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35
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A 
Mycosis fungoides (cutaneous T-cell lymphoma)
Sézary syndrome (mycosis fungoides + malignant T cells in blood)
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37
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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38
Q

Fat, female, forty, and fertile

A

Cholelithiasis

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39
Q

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

A

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

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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connective tissue disorder)

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43
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

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

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44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase risk, mainly GI)

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46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Glucocerebrosidase deficiency

A

Gaucher syndrome

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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation of collagen IV)

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48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

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49
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

52
Q

Nonpainful, ulcerated genital lesion

A

Chancre, lymphagranuloma venereum, granuloma inguinale

53
Q

Painful, ulcerated genital lesion

A

Chancroid, herpes

54
Q

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

A

Patau syndrome (trisomy 13)

55
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Genetic sphingomyelinase deficiency

A

Niemann-Pick disease

56
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)

57
Q

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

A

Edwards syndrome (trisomy 18)

58
Q

Jaundice, palpable distended non-tender gallbladder

Distal obstruction of biliary tree

A

Courvoisier sign

59
Q

Large rash with bull’s eye appearance (erythema chronicum migrans

A

Lyme disease (Borrelia burgdorferi)

60
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

61
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

62
Q

Mucosal bleeding and prolonged bleeding time

Defect in platelet aggregate due to lack of GpIIb/IIIa

A

Glanzmann thrombasthenia

63
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

64
Q

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

A

Gardner syndrome

65
Q

Myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance
Lysosomal alpha 1-4 glucosidase deficiency

A

Pompe disease

66
Q

Neonate with arm paralysis following difficult birth

“Waiter’s tip”

A

Erb-Duchenne palsy (superior trunk of C5-C6 brachial plexus injury)

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome

68
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

69
Q

Oscillating slow/fast breathing

Central apnea in CHF or increase ICP

A

Cheyne-Stokes respirations

70
Q

Painful blue fingers/toes, hemolytic anemia

Autoimmune disease caused by Mycoplasma pneumoniae, infectious mononucleosis

A

Cold agglutinin disease

71
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon

72
Q

Painful, raised red lesions on pad of fingers/toes

Infective endocarditis, immune complex deposition

A

Osler nodes

73
Q

Painless erythematous lesions on palms and soles

Infective endocarditis, septic emboli/microabscesses

A

Janeway lesions

74
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

75
Q

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

A

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

76
Q

Pancreatic, pituitary, parathyroid tumors

Autosomal dominant

77
Q

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

A

Nephrotic syndrome

78
Q

Pink complexion, dyspnea, hyperventilation

Alpha 1-antitrypsin deficiency

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar

79
Q

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

A

Fancompni syndrome

80
Q

Pruritic, purple, polygonal planar papules and plaques (6P’s)

A

Lichen planus

81
Q

Ptosis, miosis, anhydrosis

A

Horner syndrome (sympathetic chain lesion)

82
Q

Pupil accommodates but does not react

A

Argyll Robertson pupil (neurosyphilis)

83
Q

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

A

Guillain-Barré syndrome

84
Q

Rash on palms and soles

A

Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever

85
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

86
Q

Red currant jelly sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

87
Q

Red currant jelly stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

88
Q

Red, itchy, swollen rash of nipple/areola

Sign of underlying neoplasm

A

Paget disease of the breast

89
Q

Red urine in the morning, fragile RBC’s

A

Paroxysmal nocturnal hemoglobinuria

90
Q

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

A

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

91
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease

92
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

93
Q

Severe jaundice in neonate

Congenital unconjugated hyperbilirubinemia

A

Crigler-Najjar syndrome

94
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign

96
Q

Short stature, increase incidence of tumors/leukemia, aplastic anemia
Genetic loss of DNA crosslink repair; often progresses to AML

A

Fanconi anemia

97
Q

Single palmar crease

A

Down syndrome

98
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility
Dynein arm defect affecting cilia

A

Kartagener syndrome

99
Q

Skin hyperpigmentation, hypotension, fatigue

Primary adrenocortical insufficiency causes increase ACTH and alpha-MSH production

A

Addison disease

100
Q

Slow, progressive muscle weakness in boys

X-linked missense mutation in dystrophin;less severe than Duchenne

A

Becker muscular dystrophy

101
Q

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

A

Koplik spots

102
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata

103
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

104
Q

“Strawberry tongue”

A

Scarlet fever
Kawasaki disease
Toxic shock syndrome

105
Q

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

A

Turner syndrome (45, XO)

106
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra

107
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

108
Q

Swollen, hard, painful finger joints

A

Osteoarthritis

109
Q

Osteophytes on PIP

A

Bouchard nodes

110
Q

Osteophytes on DIP

A

Heberden nodes

111
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

112
Q

Thyroid and parathyroid tumors, pheochromocytoma

113
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

114
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign

115
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

116
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

Rieter syndrome

117
Q

Vascular birthmark (port wine stain)

A

Hemangioma (associated with Sturge-Weber syndrome)

118
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome

119
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

120
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

121
Q

Abdominal pain, ascites, hepatomegaly

Post hepatic venous thrombosis

A

Budd-Chiari Syndrome

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