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1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-Chiara syndrome (post hepatic venous thrombosis)

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2
Q

abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C. diff infection

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3
Q

achilles tendon xanthoma

A

familial hypercholesterolemia (decreased LDL receptor signaling)

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4
Q

adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Positive anterior drawer sign

A

anterior cruciate ligament injury

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7
Q

arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillar defect)

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8
Q

athlete with polycythemia

A

secondary to erythropoietin injections

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9
Q

back pain, fever, night sweats

A

Post disease (vertebral TB)

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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 fungal infection

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13
Q

blue sclera

A

osteogenesis imperfecta (type 1 collagen defect)

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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 (increased osteoblastic and osteoclastic activity)

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16
Q

bounding pulses, wide pulse pressure, 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

systemic lupus erthematosus

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18
Q

cafe-au-lait spots, Lisch nodes (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas

A

neurofibromatosis type 1

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19
Q

cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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20
Q

calf pseudohypertrophy

A

muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

A

Kawasaki disease (treat with IVIG and aspirin)

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22
Q

cherry red spots on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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23
Q

chest pain on exertion

A

angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

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24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

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25
Q

chest pain with ST depressions on EKG

A

unstable angina (negative troponin) or NSTEMI (positive troponin)

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26
Q

child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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27
Q

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

A

Erythema infectiosum/fifth disease (“slapped cheeks” appearance, cased by 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 (damage to MLF; may be unilateral or bilateral)

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33
Q

continuous “machine-like” heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

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34
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (caused by hypothyroidism, Graves disease) (pretibial)

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35
Q

cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA)

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36
Q

drank purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

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37
Q

deep, labored breathing/hyperventilation

A

diabetic ketoacidosis (Kussmaul respirations)

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38
Q

dermatitis, dementia, diarrhea

A

Pellagra (niacin/vitamin B3 deficiency)

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39
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine/vitamin B1 deficiency)

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40
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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42
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

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43
Q

elastic skin, hyper mobility of joints, increased bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

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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 T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

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47
Q

facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

fat, female, forty, fertile

A

cholelithiasis (gallstones)

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49
Q

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

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)

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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 (staging) or lymphoma

52
Q

fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

53
Q

golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

54
Q

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

A

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

55
Q

hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia

A

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

56
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

58
Q

hyperphagia, hyper sexuality, 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

chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)

62
Q

indurated, ulcerated genital lesion

A

non painful: chancre (primary syphilis, Treponema pallidum)

painful, with exudate: chancroid (Haemophilus ducreyi)

63
Q

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

A

Patau syndrome (trisomy 13)

64
Q

infant with hypoglycemia, hepatomegaly

A

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

65
Q

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

A

Edwards syndrome (trisomy 18)

66
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

67
Q

large rash with bull’s eye appearance

A

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

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 disease (X-linked agammaglobulinemia)

70
Q

mucosal bleeding and prolonged bleeding time

A

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

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 (subtype of FAP)

73
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompey disease (lysosomal alpha-1,4-glucosidase deficiency)

74
Q

neonate with arm paralysis following difficult birth

A

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

75
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

76
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

77
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis, CLL)

78
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

79
Q

painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

80
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

81
Q

painless jaundice

A

cancer of the pancreatic head obstructing the bile duct

82
Q

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

A

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

83
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant)

84
Q

periorbital and/or peripheral edema, proteinuria (>3.5 g/day), hypoalbuninemia, hypercholesterolemia

A

nephrotic syndrome

85
Q

pink complexion, dyspnea, hyperventilation

A

emphysema (“pink puffer,” centriacinar [smoking] or panacinar [alpha-1 antitrypsin deficiency])

86
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

87
Q

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

A

Lichen planus

88
Q

ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

89
Q

pupil accommodates but doesn’t react

A

neurosyphilis (Argyll Robertson pupil)

90
Q

rapidly progressive limb weakness that ascends following GI/upper respiratory infection

A

Guillan-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

91
Q

rash on palms and soles

A

coxsackie A, secondary syphilis, Rocky Mountain Spotted Fever

92
Q

recurrent cold (non inflamed) abscesses, unusual eczema, high serum IgE

A

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

93
Q

red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

94
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults), intussusception (children)

95
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

96
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

97
Q

renal cell carcinoma (bilateral), hemanigoblastomas, angiomatosis, pheochromocytoma

A

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

98
Q

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

A

Parkinson disease (loss of dopaminergic neurons in substantial nigra pars compacta)

99
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

100
Q

severe jaundice in neonate

A

Crigler-Nijjar syndrome (congenital unconjugated hyperbilirubinemia)

101
Q

severe RLQ pain with palpation of LLQ

A

Roving sign (acute appendicitis)

102
Q

severe RLQ pain with deep 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

Falcon anemia (genetic loss of DNA crosslink repair; often progresses to AML)

104
Q

single palmar crease

A

Down syndrome

105
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

106
Q

skin hyper pigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (eg, Addison disease) causes increased ACTH and increased alpha-MSH production

107
Q

slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin, less severe than Duchenne)

108
Q

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

A

Kopek spots (measles [rubeola] virus)

109
Q

smooth, moist, painless, wart-like white lesion 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 (45, XO)

113
Q

sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

114
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

115
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

116
Q

telangiectasis, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome

117
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

118
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant RET mutation)

119
Q

toe extension/fanning upon plantar scrape

A

Babinksi sign (UMN lesion)

120
Q

unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

121
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

122
Q

vascular birthmark (port-wine stain) of face

A

Nevus flames (benign, but associated with Sturge-Weber syndrome)

123
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

124
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

125
Q

“worst headache of my life”

A

subarachnoid hemorrhage

RR classic presentations (4 decks)

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