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1
Q

abdominal pain, ascites, hepatomegaly

A

budd-Chiari syndrome

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2
Q

achilles tendon xanthoma

A

familial hypercholesterolemia (decreased LDL receptor signaling

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3
Q

adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome

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4
Q

arachnodactlyly, lens dislocation, aortic dissectoin, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

secondary to EPO injection

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6
Q

back pain, fever, night sweats, weight loss

A

Pott’s disease

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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 (collagen I defect)

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9
Q

bluish line on gingiva

A

Burton’s line (lead poisoning)

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10
Q

bone pain, bone enlargement, arthritis

A

Paget’s disease (increased osteoblastic and osteoclastic activity)

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11
Q

boudning pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation

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12
Q

butteryfly facial rash and Raynaud’s phenomenon

A

SLE

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13
Q

cafe au lait spots, Lisch nodules (iris hamartoma)

A

NF-1

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14
Q

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

A

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

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15
Q

calf pseudohypertrophy

A

Muscular dystrophy (Duchenne’s ) x-linked recessvie deletion fo dystrophin gene

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16
Q

cherry red spot on macula

A

Tay sachs (ganglioside accumulation) or Niemmann-Pick (sphingomyelin accumulation)

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17
Q

chest pain on exertion

A

angina

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18
Q

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

A

Dressler’s syndrome (autoimmune-mediated post MI fibrinous pericarditis 1-12 wks post MI)

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19
Q

child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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20
Q

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

A

slapped cheeks (erythema infectiosum/fifh disease: parvovirus B19)

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21
Q

chorea, dementia, caudate degeneration

A

Huntington’s disease (AD with CAG repeat expansion)

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22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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23
Q

cold intolerance

A

hypothyroidism

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24
Q

conjugate lateral gaze palsy, horizontal diploplia

A

internuclear ophthalmoplegia (damage to MLF; bilateral [MS] unilateral [stroke])

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25
Q

continuous machinery 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 (hypothroidism, Grave’s disease [pretibial]

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27
Q

dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usuallyAIDS patients [MSM] assoc with HHV-8])

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28
Q

deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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29
Q

dermatitis, dementia, diarrhea

A

Pellagra (niacin[B3] deficiency)

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30
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine [B1]deficiency)

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31
Q

dog or cat bite resulting in infection

A

pasteruella multocida (cellulitis at inoculation site)

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32
Q

dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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34
Q

elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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35
Q

enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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36
Q

erythroderma, LAD, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

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37
Q

facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

fat, female, forty, 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 results 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, weigh loss

A

B symptoms (staging) of lymphoma

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42
Q

fibrous plques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

gout, mental retardation, self mutilation in a boy

A

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

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44
Q

green-yellow rings around perpheral cornea

A

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

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45
Q

Hamartomatous GI polyps, hyperpigmentationof mouth, feet, hands

A

Peutz-Jeghers syndrome (inherited benign poyposis can cause bowel obstruciton , increased cancer risk, mainly GI)

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46
Q

hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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47
Q

Herditary nephritis, sensorinerual hearing loss, cataracts

A

Alport sydnrome (mutation of alpha chain of collage IV)

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48
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

hyperreflexia, hypertonia, Babinski present

A

UMN damage

50
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

hypoxemia, polycycthemia, hypercapnia

A

blue bloater (chrnoic bronchitis; hyperplasia of mucous cells)

52
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis, Treponema pallidum)

painful, with exudate: chancroid (Haemophilus ducreyi)

53
Q

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

A

Patau’s syndrome (trisomy 13)

54
Q

infant with failure to thrive, hepatosplenomegaly,a nd neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

56
Q

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

A

Edward’s syndrome (trisomy 18)

57
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruciton fo biliary tree)

58
Q

large rash with bull’s eye apearance

A

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

59
Q

Lucid interval after traumatic brian injury

A

epidural hematoma (middle meningeal artery rupture)

60
Q

male child, recurrent infections, no mature B cells

A

Bruton’s disease ( x-linked agammaglobulinemia)

61
Q

mucosal bleeding and prolonged bleeding time

A

Glnzman’ns thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa

62
Q

muffled heart sounds, distened neck veins, hypotension

A

Beck’s triad of cardia tamponade

63
Q

multiple colon polyps, osteomas/ soft tissue tumors, impacted/supernumery teeth

A

Gardner’s syndrome (subtype of FAP)

64
Q

myopathy (infantile hypertrophic caridomyopathy), exercise intolerance

A

Pompe’s disease (lysosomal alpha-1,4-glucosidase deficiency)

65
Q

neonate with arm paralysis follownig difficult birth

A

Erb-Duchenne palsy (superior trunk [C5-c6] bracila plexus injury; waiter’s tip)

66
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

67
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

68
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or increased ICP)

69
Q

painful blud fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumoniae, infectious mono)

70
Q

painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospasm in extremities)

71
Q

painful raised lesions on pad of fingers and toes

A

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

72
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

73
Q

painless jaundice

A

cancer of pancreatic head obstructing bile duct

74
Q

palpable purpura on butt/legs, joint pain, abdomina pain, hematuria

A

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

75
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1 (auto dominant)

76
Q

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

A

nephrotic syndrome

77
Q

pink complexion, dyspnea, hyperventilation

A

pink puffer (emphysema: centriacinar [ smoking], panacina[ alpha 1 antitrypsin deficiency])

78
Q

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

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

positive anterior drawer sign

A

ACL injury

80
Q

pruritic, purple, polyganal, planar, papules and plaques

A

Lichen Planus

81
Q

ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

82
Q

pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

83
Q

rapidly progressive leg weakness that ascends following GI/ Upper respiratory infection

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

rash on palms and soles

A

Coxsackia A, secondary syphilis, Rocky Mountain spotted fever

85
Q

recurrent colds, unusual eczema, high serum IgE

A

hyper IgE syndrome (Job’s syndorme : neutrophil chemotaxis abnormality)

86
Q

Red currant jelly sputum in alcoholic or diabetic patient

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

A

Paget’s disease (underlying neoplasm)

89
Q

red urin in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

90
Q

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

A

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

91
Q

resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

92
Q

retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis0

93
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia

94
Q

severe RLQ pain with palpation of LLQ

A

Rovsing’s sign (acute appendicitis)

95
Q

severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

96
Q

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

A

Fanconi’s anemia (genetic loss of DNA crosslink repair, often progresses to AML)

97
Q

single palmar crease

A

Simian crease (Down)

98
Q

situs inverus, chronic sinusitis, bronchiectasis infertility

A

Kartagener’s sydnrome (dynein arm defect affecting cilia)

99
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha MSH production)

100
Q

slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (X linked missnese mutation in dystrophin; less severe than Duchenne’s)

101
Q

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

A

Koplik spots (measles, rubeola virus)

102
Q

smooth, flat, moist painless white lesions on genital

A

condylomata lata (secondary syphilis)

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, lymphedema

A

Turner syndrome (45, XO)

106
Q

sudden swollen/painful big toe join, tophi

A

Gout/podagra (hyperuricemia)

107
Q

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

A

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

108
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophytes on PIP [ bouchard’s nodes], DIP[Heberden’s nodes])

109
Q

systolic ejection murmur(drescendo-decrescendo)

A

aortic valve stenosis

110
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD ret mutation)

111
Q

thryoid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN2B (AD ret mutation)

112
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

113
Q

unilater facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

114
Q

urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

115
Q

vascular birhtmark (port-wine stain)

A

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

116
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients )

117
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whipplei, PAS positive)

118
Q

Worst headache of my life

A

subarachnoid hemorrhage

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