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classic presentations Flashcards

1
Q

abdominal pain, ascites hepatosplenomegaly

A

budd-chiari

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2
Q

abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

clostridium dificile

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3
Q

achilles tendon xanthoma

A

familial hypercholesterolemia

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4
Q

adrenal hemmorrhage, 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

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

marfan syndrome

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7
Q

back pain, fever, night sweats

A

vertebral TB (Potts)

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8
Q

bilateral acoustic schawnomas,

A

NF2, chrom 22

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9
Q

black eschar on face of patient with DKA

A

mucor or rhizopus fungal infection

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10
Q

blue sclera

A

osteogenesis imperfecta (type I collagen defect)

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11
Q

bluish line on gingiva

A

lead poisioning, (burton line)

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12
Q

bone pain, bone enlargement, arthritis

A

paget disease of bone (increase osteoclastic first then osteoblastic activity)

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13
Q

bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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14
Q

butterfly facial rash, raynaud’s in young women

A

SLE

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15
Q

cafe-au-lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF1 chrom 17

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16
Q

Cafe au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endorine abnormalities

A

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

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17
Q

calf pseudohypertrophy

A

muscular dystrophy (most common=Duchenne, due to X-linked, recessive frameshift mutation of dystrophin

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18
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctive and tongue, hand/foot changes

A

Kawasaki (txt with IVIG and aspirin)

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19
Q

Cherry red spots on macula

A

Tay- Sachs: ganglioside accumulation
Niemann Pick: sphingomyelin accumulation
central retinal artery occlusion

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20
Q

chest pain on exertion

A

angina

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21
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 post MI

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22
Q

child uses arm to stand up from squat

A

duchenne muscular dystropher (gower sign)

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23
Q

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

A

Parvovirus B19, (erythema infectiosum)

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24
Q

chorea, dementia, caudate degradation

A

Huntington disea

AD, CAG repeat

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25
Q

chorioretinitis, hypocephalus, intracranial calcification

A

congenital toxoplasmosis

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26
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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27
Q

cold intolerance

A

hypothyroidism

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28
Q

conjugate horizontal gaze palsy, horizontal diplopia

A

internuclear ophthalmolplegia (damage to MLF)

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29
Q

cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right sided cardiac valvular lesions, increase 5-HiAA)

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30
Q

dark purple skin/mouth nodules in pateint with AIDS

A

Kaposi Sarcoma, HHV-8

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31
Q

deep labored breathing/hyperventilation

A

DKA, (kussmal respirations)

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32
Q

dermatitis, dementia, diarrhea,

A

niacin, vitamin B3 deficiency

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33
Q

dilated cardiomyopathy, edema, alcoholism, malnutrition

A

wet beriberi (thiamine, (B1) deficiency)

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34
Q

dog or cat bite resulting in infection

A

pastuerella multocida

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35
Q

dry eyes, dry mouth arthritis

A

Sjogren syndrome, autoimmune destruction of exocrine glands

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36
Q

dysphagia, glossitis, iron deficiency anemia

A

plummer-vinson syndrome (may progress to SCC or esophagus)

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37
Q

enlarged hard left supraclavicular node

A

virchow node (abdominal metastasis)

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38
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome: mycosis fungoides+ malignant T cells in the blood

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39
Q

facial muscles spasm upon tapping

A

Chvostek sign in hypocalcemia

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40
Q

fat, female, forty and fertile

A

cholelithiasis

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41
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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42
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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43
Q

golden brown rings in peripheral cornea

A

wilson disease (kayser-fleischer rings due to copper accumulation)

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44
Q

gout, intellectual disability, self mutilating behavior in a boy

A

lesch-nyhan (HGPRT deficiency), X-linked recessive

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45
Q

hamartomatous GI polyps, hyperpigmentaiton of mouth/feet/hands/genitalia

A

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

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46
Q

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

A

gaucher disease (glucocerebrosidase deficiency)

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47
Q

hereditary nephritis, sensorinerual hearing loss

A

alport syndrome (collage IV mutation)

48
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy; bilateral amygdala lesion

49
Q

hyperreflexia, hypertonia, Babinski sign

A

UMN

50
Q

hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN

51
Q

hypoxemia, polycythemia, hypercapnia

A

chronic bronchitis

52
Q

indurated, ulcerated genital lesion

A

non painful: primary syphilis

painful, with exudate: chancroid

53
Q

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

A

trisomy 13 (Patau)

54
Q

infant with hypoglycemia, hepatomegaly

A

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

55
Q

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

A

trisomy 18 (edwards)

56
Q

jaundice palpable distended, non tender gallbladder

A

courvoisier sign: distal malignant obstruction of biliary tree

57
Q

large rash with bull’s eye appearance

A

erythema chronicum migrans from ixodes tick: Borrelia

58
Q

lucid interval after traumatic brain injury

A

epidural hematoma

59
Q

male child recurrent infections, no mature B cells

A

X-linked agammaglobulinemia (bruton disease)

60
Q

mucosal bleeding and prolonged bleeding time

A

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

61
Q

muffled heart sounds, distended neck veins, hypotensison

A

beck triad of cardiac tamponade

62
Q

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

A

gardner syndrome (subtype of FAP)

63
Q

myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance

A

pompe disease (lysosomal a-1,4 glucosidase deficiency

64
Q

neonate with arm paralysis following birth

A

erb-duchenne palsy (C5-C6)

65
Q

no lactation postpartum, absent menstruation, cold intolerance

A

sheehan syndrome: pituitary infarction

66
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

67
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutitnin disease ( autoimmune, hemolytic anemia cuased by mycoplasma pneumoniae, infectious mononucleosis, CLL)

68
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

69
Q

painful, raised red lesions on pads or fingers/toes

A

osler nodes (infective endocarditis, IC depostition)

70
Q

painless erythematous lesions on palms and soles

A

janeway lesions (infective endocarditis, septic emboli/microabsecesses)

71
Q

painless jaundice

A

cancer fo the pancreatic head obstruction bile duct

72
Q

palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria

A

HSP (IgA vasculitis affectin skin and kidneys)

73
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1

74
Q

periorbital and peripheral edema, protenuria, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

75
Q

pink complexion, dyspnea, hyperventilation

A

emphysema

76
Q

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

A

fanconi syndrome (multiple compbined dysfunction of PCT)

77
Q

pruritic, purple, polygonal planar papules

A

Lichen planus

78
Q

ptosis, miosis, anhidrosis

A

horner syndrome

79
Q

pupil accommodates but doesn’t react

A

neurosyphilis (argyll robertson pupil)

80
Q

rapidly progressive limb weakness that ascends following GI/URI

A

Guillain-Barre (acute inflammatory demyelinating polyradiculopathy subtype)

81
Q

rash on palms and soles

A

Coxackie A, secondary syphilis, Rocky mountain spotted fever

82
Q

recurrent cold abscesses, unusual eczema, high serum IgE

A

hyper-IgE, neutrophil chemotaxis abnormality

83
Q

red currant jelly sputum in alcoholic or diabetic patients

A

Kelbsiella pneumonia

84
Q

red currant jelly stools

A

acute mesenteric ischemia, intussusception

85
Q

red, itchy, swollen rash of nipple/areola

A

paget disease of the breast (sign of underlying neoplasm)

86
Q

red urine in the morning, fragile RBCS

A

paroxysmal nocturnal hemoglobinuria

87
Q

RCC, hemangioblastomas, angiomatosis, pheochromocytoma

A

Von-hippel-lindau disease (dominant tumor suppressor gene mutation)

88
Q

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

A

parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

89
Q

retinal hemorrhage with pale centers

A

Roth spots (bacterial endocarditis)

90
Q

sever jaundice in neonate

A

crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)

91
Q

severe RLQ pain with palpation of LLQ

A

rovsing sign (acute appendicitis)

92
Q

sever RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

93
Q

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

A

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

94
Q

single palmar crease

A

down syndrome

95
Q

situs inversus, chronic sinusitis, bronchiectasis

A

kartagener syndrome (dyenin arm defect affecting cilia)

96
Q

skin hyperpigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency causes increased ACTH and increased MSH

97
Q

slwo progressive muscle weakness in boys

A

Becker muscle dystrophy (x-linked missense mutation in dystrophin, less sever than duchenne)

98
Q

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

A

koplik spots (measles (rubeola) virus)

99
Q

smotth moist painless, wart-like white lesions on genitals

A

condylomata lata (secondary syphilis)

100
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

101
Q

strawberry tongue

A

scarlet fever, Kawasaki disease

102
Q

streak ovaries, congenital heart disease, horshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

turner syndrome

103
Q

sudden swollen/painful big toe joint tophi

A

gout/podagra (hyperuricemia)

104
Q

swollen gums, mucosal bleeding, poor wound healing

A

scurvy, vit C definciency, can’t hydroxylate prolin/lysine for collagen synthesis

105
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophytes on PIP, DIP)

106
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

107
Q

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

A

osler-weber-rendu syndrome

108
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A

109
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B

110
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN)

111
Q

unilateral facial drooping involving forehead

A

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

112
Q

urethritis, conjuncitivitis, arthritis in male

A

reactive arthritis associated with HLA-B27

113
Q

vascular birthmark (port-wine stain) of the face

A

nevus flammeus (benign, but associated with Sturge-weber)

114
Q

vomiting blood follwing gastroesophageal lacerations

A

mallory-weiss syndrome (alcoholic and bulimic patients)

115
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

whipple disease (tropheryma whipplei)

116
Q

worst headache of my life

A

subarachnoid hemorrhage

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