Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

0
Q

Achilles’ tendon xanthoma

A

Familial hypercholesterolemia (dec LDL receptor signaling)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

Abdominal Pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friederichsen syndrome (meningococcemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Athlete with polycythemia

A

secondary to EPO injection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral TB)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Blue sclera

A

Osteogenesis imperfecta (type 1 collagen defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Blueish line on gingiva

A

Burton’s line (lead poison)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Bone pain, bone enlargement, arthritis

A

Paget’s dz of the bone (inc osteoblastic and osteoclastic activity)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurg

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

“Butterfly” facial rash + Raynaud’s phenomenon in young female

A

SLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Cafe au lait spots, Lisch nodules (iris hamartomas)

A

NF type 1 (+ pheo, optic gliomas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

McCune Albright syndrome (mosaic G protein signaling mutation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Calf pseudohypertrophy

A

Muscular dystrophy (MC Duchenne’s) - X linked recessive deletion of dystrophin gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

“Cherry red spot” on macula

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Chest pain on exertion

A

Angina (stable: w/moderate exertion, unstable: with minimal exertion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Child w/fever later develops red rash on face that spread to the body

A

Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Chorea, dementia, caudate degeneration

A

Huntington’s dz (AD CAG repeat expansion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Chronic exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle’s disease (muscule glycogen phosphorylase deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

cold intolerance

A

hypothyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

conjugate lateral gaze palsy, horizontal diplopia

A

INO (damage to MLF; bilateral in MS, unilateral in stroke)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

continuous “machinery” heart murmur

A

PDA (close w/indomethacin; open or maintain w/misoprostol)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

cutaneous/dermal edema due to connective tissue deposition

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS pts, MSM) - a/w HHV 8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

deep, labored breathing/hyperventilation

A

Kussmaul breathing (DKA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin - B3 deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

wet beriberi (thiamine - vit B1- defiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

dog or cate bite resulting in infection

A

Pasteurella multocida (cellulitis at inonculation site)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

dry eyes, dry mouth, arthritis

A

Sjögren’s syndrome (autoimmune destruction of exocrine glands)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

dysphagia (esophageal webs), glossitis, Fe def anemia

A

Plummer-Vinson syndrome (may progress to esophageal SCC)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

erythroderma, lymphadenopathy, HSM, atypical T cells

A

Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

facial muscle spasm on tapping

A

Chvostek’s sign (hypocalcemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

fat, female, forty, and fertile

A

cholelithiasis (gallstones)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

fever, chills, HA, myalgia following abx rx for syphillis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (morbilivirus)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

fever, night sweats, weight loss

A

B symptoms (staging) or lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

fibrous plaques in soft tissue of penis

A

Peyronie’s disease (CT disorder)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

gout, MR, self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome (HGPRT def - X linked recessive)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Green-yellow rings around peripheral cornea

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

HSM, osteoporosis, neurologic sx

A

Gaucher’s d (glucocerebrosidase def)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of type IV collagen)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

48
Q

hyperreflexia, hypertonia, Babinski positive

A

UMN damage

49
Q

hyporeflexia, hypotonia, atrophy, fasiculation

A

LMN damage

50
Q

Hypoxemia, polycythemia, hypercapnia

A

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

51
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphillis, Treponema pallidum)

painful, w/exudate: chancroid (Haemophilus ducreyi)

52
Q

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

A

Patau’s syndrome (trisomy 13)

53
Q

infant w/FTT, HSM, and neurodegeneration

A

Niemann-Pick dz (genetic sphingomyelinase def)

54
Q

infant w/hypoglycemia, FTT, and hepatomegaly

A

Cori’s dz (debranching enzyme def)

55
Q

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

A

Edwards’ syndrome (trisomy 18)

56
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction of biliary tree)

57
Q

large rash w/bull’s-eye appearance

A

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

58
Q

lucid interval after traumatic brain injury

A

epidural hematoma (middle meningeal artery rupture)

59
Q

male child, recurrent infections, no mature B cells

A

Bruton’s dz (X linked agammaglobulinemia)

60
Q

mucosal bleeding and prolonged BT

A

Glanzmann’s thrombasthenia (defect in plt aggregation due to lack of GPIIb/IIIa)

61
Q

muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

62
Q

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

A

Gardner’s syndrome (subtype of FAP)

63
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s dz (lyosomal alpha 1,4 glucosidase def)

64
Q

neonate w/arm paralysis following difficult birth

A

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

65
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarct)

66
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

multiple sclerosis

67
Q

oscillating slow/fast breathing

A

Cheyne-Stokes repirations (central apnea in CHF or inc intracranial pressure)

68
Q

painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin dz (autoimmune hemolytic anemia caused by M.pneumoniae, infectious mono)

69
Q

painful, pale cold fingers/toes

A

Raynaud’s phenomenon (vasospasm in extremities)

70
Q

painful, raised red lesions on pad of fingers/toes

A

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

71
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabcesses)

72
Q

painless jaundice

A

cancer of pancreatic head obstructing bile duct

73
Q

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

A

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

74
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1 (AD)

75
Q

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

A

nephrotic syndrome

76
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer” (emphysema: centriacinar - smoking, panacinar - alpha1 antitrypsin def)

77
Q

polyuria, RTA type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi’s syndrome (prox tubular reabsorption defect)

78
Q

positive anterior drawer sign

A

ACL injury

79
Q

pruritic, purple, polygonal planar papules and plaques (5 P’s)

A

lichen planus

80
Q

ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

81
Q

pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphillis)

82
Q

rapidly progressive leg weakness that ascends following GI/URI

A

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

83
Q

rash on palms and soles

A

coxsackie A, secondary syphillis, Rocky Mntn spotted fever

84
Q

recurrent colds, unusual eczema, high serum IgE

A

Hyper IgE syndrome (Job’s syndrome: PMN chemotaxis abnormality)

85
Q

red currant jelly sputum in alcoholic or diabetic pts

A

Klebsiella pneumoniae

86
Q

red currant jelly stools

A

acute mesenteric ischemia (adults), intussusception (kids)

87
Q

red, itchy, swollen rash of nipple/areola

A

Paget’s dz of the breast (represents underlying malignancy)

88
Q

red urine in the morning, fragile RBCs

89
Q

RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytomas

A

VHL (dominant tumor suppressor gene mutation)

90
Q

resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s dz (nigrostriatal dopamine depletion)

91
Q

retinal hemorrhages w/pale centers

A

Roth’s spots (bacterial endocarditis)

92
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

93
Q

severe RLQ pain w/palpation of LLQ

A

Rovsing’s sign (appendicitis)

94
Q

severe RLQ pain w/rebound tenderness

A

McBurney’s sign (appendicitis)

95
Q

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

A

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

96
Q

single palmar crease

A

Simian crease (Down syndrome)

97
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

98
Q

skin hyperpigmentation, hypotension, fatigue

A

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

99
Q

slow, progressive muscle weakness in boys

A

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

100
Q

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

A

Koplik spots (measles, rubeola virus)

101
Q

smooth, flat, moist, painless white lesions on genitals

A

condyloma lata (secondary syphillis)

102
Q

splinter hemorrhage in fingernails

A

bacterial endocarditis

103
Q

“strawberry tongue”

A

scarlet fever, Kawasaki disease, TSS

104
Q

streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45, XO)

105
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra (hyperuricemia)

106
Q

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

A

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

107
Q

swollen, hard painful finger joints

A

OA (osteophytes on PIP = bouchards, DIP = heberdens)

108
Q

systolic ejection murmur (cresc-decresc)

A

aortic valve stenosis

109
Q

thyroid and parathyroid tumors, pheos

A

MEN 2A (AD ret mutation)

110
Q

thyroid tumors, pheo, ganglioneuromatosis

A

MEN 2B (AD ret mutation)

111
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

112
Q

Unilateral facial drooping involving forehead

A

facial nerve (LMN CN VII palsy)

113
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis a/w HLA-B27

114
Q

vascular birthmark (port-wine stain)

A

Hemangioma (benign, but a/w Sturge-Weber syndrome)

115
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

116
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s dz (Tropheryma whipplei)

117
Q

“worst headache of my life”

A

subarachnoid hemorrhage

Rapid Review (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions