Classic presentations Flashcards

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1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari Syndrome

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C. diff

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen syndrome (disseminated meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior drawer sign

A

ACL tear

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7
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome

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8
Q

Athlete with polycythemia

A

Result of erythropoietin injection

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9
Q

Back pain, fever, night sweats

A

Pott disease

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus infection

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13
Q

Blue sclera

A

Osteogenesis imperfecta

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone

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16
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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17
Q

Butterfly facial rash and Raynaud phenomenon in a young female

A

SLE

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18
Q

Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF type 1

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19
Q

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

A

McCune-Albright syndrome

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctivae and tongue

A

Kawasaki disease

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22
Q

Cherry red spots on macula

A

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

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23
Q

Chest pain on exertion

A

Angina

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24
Q

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

A

Dressler syndrome (autoimmune post-MI fibrinous pericarditis)

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25
Q

Chest pain with ST depressions on EKG

A
Unstable angina (-troponin)
NSTEMI (+troponin)
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26
Q

Child uses arms to stand up from squat

A

Gowers sign–Duchenne muscular dystrophy

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27
Q

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

A

Slapped cheeks–erythema infectiosum/Fifth disease–parvovirus B19

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (Autosomal dominant CAG repeat expansion)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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31
Q

Cold intolerance

A

Hypothyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia

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33
Q

Continuous machine-like murmur

A

PDA (close with indomethacin, prop open with prostaglandins)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (pretibial in Graves disease)

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome

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36
Q

Dark purple skin/mouth nodules in AIDS patient

A

Kaposi sarcoma (HHV-8)

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37
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine deficiency)

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40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocidaSjogren syndrome

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome

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42
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome

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43
Q

Elastic skin, joint hypermobility, increased bleeding tendency

A

Ehlers-Danlos syndrome

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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46
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous)/Sezary syndrome (when it gets into blood)

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47
Q

Facial muscle spasm upon tapping

A

Chvostek sign of hypocalcemia

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48
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

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49
Q

Antibiotic treatment for syphilis–>fever, chills, headache, myalgia

A

Jarisch-Herxheimer reaction

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50
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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51
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease

53
Q

Golden brown rings around peripheral cornea

A

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

54
Q

Gout, intellectual disability, self-mutilation in a boy

A

Lesch-Nyhan syndrome (HGPRT deficiency)

55
Q

Hamartomatous GI polyps, hyperpigmentation of hands/feet/genitalia

A

Peutz-Jeghers syndrome

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises

A

Gaucher disease

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

58
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

61
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater:” chronic bronchitis

62
Q

Indurated, ulcerated genital lesion

A

Non-painful: chancre (syphilis)

Painful: chancroid (H. ducreyi)

63
Q

Infant with cherry-red macula, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease

64
Q

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

A

Patau syndrome (Trisomy 13)

65
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (G6P deficiency)

66
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

67
Q

Bull’s eye rash

A

ECM from Ixodes tick carrying borrelia (Lyme disease)

68
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

69
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s X-linked agammaglobulinemia

70
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (GPIIb/IIIa deficiency–>problems with platelet aggregation)

71
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

72
Q

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

A

Gardner syndrome (type of FAP)

73
Q

Infantile hypertrophic cardiomyopathy, exercise intolerance

A

Pompe disease

74
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (C5-C6 injury)

75
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

76
Q

Nystagmus, intention tremor, scanning speech, bilateral INO

A

Multiple sclerosis

77
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (AIHA from mycoplasma pneumoniae, infectious mono, CLL)

78
Q

Painful fingers/toes changing color from blue to white to red with cold or stress

A

Raynaud phenomenon

79
Q

Painful, raised red lesions on pads of fingers/toes

A
Osler nodes (infective endocarditis, immune complex deposition)
"ouch ouch Osler"
80
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

81
Q

Painless jaundice

A

Cancer of pancreatic head obstructing bile duct

82
Q

Palpable purpura on buttocks/legs, joint pain, hematuria

A

HS purpura (IgA vasculitis affecting skin and kidneys)

83
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN I

84
Q

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

A

Nephrotic syndrome

85
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer:” emphysema

86
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the PCT)

87
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

88
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

89
Q

Pupil accommodates but doesn’t react

A

Argyll-Robinson pupil (neurosyphilis)

90
Q

Rapidly progressive ascending limb weakness following GI/URI

A

Guillain-Barre

91
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, RMSF

92
Q

Recurrent cold abscesses, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job syndrome)

93
Q

Red currant jelly sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

94
Q

Red currant jelly stools

A

Intussusception

95
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease

96
Q

Red urine in the morning, fragile RBCs

A

PNH

97
Q

Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease

98
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

Parkinson’s

99
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

100
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia

101
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

102
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

103
Q

Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (loss of DNA crosslink repair)

104
Q

Single palmar crease

A

Down syndrome (Trisomy 21)

105
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome

106
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenal insufficiency (leads to increased ACTH and MSH production)

107
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy

108
Q

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

A

Koplik spots (measles, rubeola virus)

109
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condylomata lata (secondary syphilis)

110
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

111
Q

Strawberry tongue

A

Scarlet fever, Kawasaki disease

112
Q

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

A

Turner syndrome

113
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (Vitamin C deficiency–>can’t hydroxylate proline and lysine for collagen synthesis)

114
Q

Swollen, hard, painful finger joints

A

Osteoarthritis
Bouchard nodes on PIP
Heberden nodes on DIP (old Mrs Heberden lives far away)

115
Q

Crescendo-decrescendo systolic ejection murmur

A

Aortic stenosis

116
Q

Telangiectasias, recurrent epistaxis, skin discoloration, AVM, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome

117
Q

Thyroid and PTH tumors, pheochromocytoma

A

MEN 2A syndrome (RET mutation)

118
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEB 2B (RET mutation)

119
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

120
Q

Unilateral facial drooping INVOLVING forehead

A

LMN CN VII lesion

121
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27 (Reiter’s syndrome)

122
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus

123
Q

Vomiting blood following gastroesophageal laceration

A

Mallory-Weiss syndrome

124
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease

125
Q

Worst headache of my life

A

Subarachnoid hemorrhage

126
Q

Gynecomastia+peptic ulcer disease

A

Cimetidine