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**RAPID REVIEW** > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

abdo pain, ascites, hepatomgaly

A

Budd-Chiari syndrome (post-hepatic venous thrombosis)

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2
Q

abdo pain, diarrhea, leukocytosis, recent AB use

A

C diff infection

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3
Q

achilles tendon xanthoma

A

familial hypercholesterolemia (DEC LDL receptor signaling)

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4
Q

adrenal hemorrhage, hypoTN, 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

anterior “drawer sign” (+)

A

ACL injury

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7
Q

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

bilat hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

black eschar on face of patient with DKA

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

blueish line on gingiva

A

Burton line (lead poisoning)

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15
Q

bone pain, bone enlargement, arthritis

A

Paget dz of bone (INC osteoblastic and osteoclastic activity)

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16
Q

bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation (AR)

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17
Q

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

A

SLE

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18
Q

café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF type 1, pheochromocytoma, optic gliomas

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19
Q

café-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 (mc: Duchenne, d/t X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

A

Kawasaki dz (tx w/ IVIG and ASA)

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22
Q

“cherry-red spots” on macula

A

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

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23
Q

CP on exertion

A

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

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24
Q

CP; pericardial effusion/friction rub, persistent fever following MI

A

Dressler syndrome (a.i. mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)

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25
Q

CP with ST depression on EKG

A

unstable angina (troponins [-]) or NTSEMI (troponins [+]_

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26
Q

child uses arms to stand up from squat

A

Gowers sign (Duchenne MD)

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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 (AD 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 dz (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 (INO)-damage to MLF; may be unilateral or bilateral

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33
Q

continuous “machine-like” murmur

A

PDA (close with indomethacin; open or maintain with PGE analogs)

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34
Q

cutaneous/dermal edema d/t connective tissue deposition

A

myxedema (caused by hypothyroidism, Graves dz [pretibial])

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35
Q

cutaneous flushing, diarrhea, bronschospasm

A

carcinoid syndrome (R-sided cardiac valvular lesions, INC 5-HIAA)

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36
Q

dark purple skin/mouth nodules in a pt with AIDS

A

Karposi sarcoma, assoc with HHV-8

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37
Q

deep, labored breathing/HYPER-ventilation

A

Kussmaul respiration (DKA)

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38
Q

dermatitis, dementia, diarrhea

A

pellagra (Niacin [vit B3] deficiency)

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39
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine [vit B1] deficiency)

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40
Q

dog or cat bite resulting in infection

A

pasteurella multicoda (cellulitis at inoculation site)

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41
Q

dry eyes, dry mouth, arthritis

A

Sjögren syndrome (a.i. 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 carcinoma)

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43
Q

elastic skin, hypermobility of joints, INC bleeding tendency

A

Ehlers-Danlos syndrome (type 5 collagen defect, type 3 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 Sézary 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, cough, conjunctivitis, coryza, diffuse rash, koplik spots

A

measles

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50
Q

fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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51
Q

fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (CTD)

52
Q

golden brown rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

53
Q

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

A

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

54
Q

hamartomatous GI polyps, HYPER-pigmentation of mouth/feet/hands/genitalia

A

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

55
Q

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

A

Gaucher dz (gluco-cerebro-side deficiency)

56
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen 4)

57
Q

HYPER-phagia, HYPER-sexuality, HYPER-orality, HYPER-docility

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

58
Q

HYPER-reflexia, HYPER-tonia, Babinski sign present

A

UMN damage

59
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

60
Q

hypoxemia, polycythemia, hypercapnia

A

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

61
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis, Treponema pallidum)

painful, with exudate: chancroid (Haemophilus ducreyi)

62
Q

infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingo-myelin-ase deficiency)

63
Q

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

A

Patau syndrome (trisomy 13)

64
Q

infant with hypoglycemia and hepatomegaly

A

Cori dz (debranching enzyme deficiency) or Von Gierke disease (G6Pase deficency, 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 obstruction of biliary tree)

67
Q

large rash wih 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 (MMA 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 d/t lack of Gp2b/3a)

71
Q

muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

72
Q

mulitple colon polyps, osteomas/soft tissue tumors, impacted.supernumerary teeth

A

Gardner syndrome (subtype of FAP)

73
Q

myopathy (infantile HOCM), exercise intolerance

A

Pompe dz (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 INO

A

MS

77
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin dz (ai hemolytic anemia caused Mycoplasma pneumoniae, infectious mononucleosis, CLL)

78
Q

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

A

Raynaud pheonomenon (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 bile duct

82
Q

palpable purpura on buttocks/legs, jt pain, abdo pain (child), hematuria

A

HSP (IgA vasculitis affecting skin and kidneys)

83
Q

triple P tumors (pancreatic, pituitary, parathyroid)

A

MEN 1 (AD)

84
Q

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

A

nephrotic syndrome

85
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha-1 AT])

86
Q

polyuria, RTA type 2, growth failure, electrolyte imbalances, hypo-phosphotemic rickets

A

Fanconi syndrome (multiple combined dysfunction of the PCT)

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 accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

90
Q

rapidly progressive limb weakness that ascends following GI/URTI

A

GB syndrome (acute inflamm 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 syndrome: neutrophil chemotaxis abnormality)

93
Q

red “currant jelly” sputum in alcoholic or diabetic pt

A

klebsiella pneumo pneumonia

94
Q

red itchy swollen rash of nipple/areola

A

Paget dz of the breast (sign of underlying neoplasm)

95
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults) intussusception (children)

96
Q

red urine in the morning, fragile RBCs

A

PNH

97
Q

bilat RCC, hemangioblastomas, angiomatosis, pheochromocytoma

A

VHL dz (dominant tumor suppressor gene)

98
Q

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

A

Parkinson disease (loss of dopaminergic neurons in the SN pars compacta)

99
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

100
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated HYPER-bilirubinemia)

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, INC incidence of tumors/leukemia, aplastic anemia

A

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

104
Q

single palmar crease

A

DS

105
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

106
Q

skin HYPER-pigmentation, hypoTN, fatigue

A

primary, adrenocortical insufficiency (Addisons dz) causes INC ACTH and INC alpha-MSH production

107
Q

slow, progressive muscle weakness in boys

A

Becker MD (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

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 (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 (vit C deficiency: cant hydroxylate proline/lysine for collagen synthesis)

115
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

116
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis (AS)

117
Q

telangiectasias, recurrent epistaxis, skin discoloration, AV malformation, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome

118
Q

thyroid, parathyroid tuors, pheochromocytoma

A

MEN 2A (AD RET mut)

119
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD RET mut)

120
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

121
Q

unilateral facial drooping involving forehead

A

LMN facial nerve (CN 7) palsy; UMN lesions spare the forehead

122
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

123
Q

vascular birthmark (port-wine stain) of the face

A

nevus flammeus (benign, but associated with Sturge-Weber syndrome)

124
Q

vomiting blood following gastro-esophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

125
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

126
Q

WHOML

A

SAH

**RAPID REVIEW** (4 decks)

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