classic presentations Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

budd-chiari syndorme (poshepatic venous thrombosis)

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2
Q

abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

clostridium difficili infection

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3
Q

achilles tendon xanthoma

A

familial hypercholesterolemia

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4
Q

adrenal hemorrhage, hypotension, DIC

A

waterhouse-friderichsen syndrome

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5
Q

anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

anterior drawer sign positive

A

anterior cruciate ligament injury

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7
Q

arachnodactylyl, lens dislocation upward, aortic dissection, hyperflexible joints

A

marfan syndrome

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8
Q

athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

back pain, fever, night seats

A

pots 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

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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 (incr osteoblast and clast 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 young female

A

SLE

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18
Q

cafe-au-alit spots (U/L), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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19
Q

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

A

kawasaki disease

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20
Q

cherry red spots on macula

A

tay-sacks or niemann-pick, central retinal artery occlusion

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21
Q

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

A

dressler syndrome

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22
Q

child uses arms to stand up from squat

A

duchenne muscular dystrophy (towers sign)

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23
Q

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

A

erythema infectiosum/fifth disease (caused by parvovirus B19)

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24
Q

chorea, dementia, caudate degen

A

huntington disease

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25
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
26
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
27
cold intolerance
hypothyroidism
28
conjugate horizontal gaze palsy, horizontal diplopia
internuclear ophthalmoplegia
29
continous machine like heart murmur
PDA
30
cutaneous/derma edema due to connective tissue deposition
myxedema (d/t hypothyroid, graves); usually pretibial
31
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome
32
dark purple skin/mouth nodules patient with AIDS
KAPOSI sarcoma
33
deep, labored breathing/hyperventilation
diabetic ketoacidosis (kussmaul respirations)
34
dermatitis, dementia, diarrhea
pellagra (niacin deficiency)
35
dilated cardiomyopathy, edema, alcoholism, or malnutrition
wet beriberi (thiamine deficiency)
36
dry eyes, dry mouth, arthritis
sjogren syndrome (autoimmune destruciton of exocrine glands)
37
dysphagia (esophageal webs), glossitis, iron deficiency anemia
plummer-vinson syndrome
38
enlarged, hard left supraclavicular node
virchow node (abdominal metastasis)
39
episodic vertigo, tinnitus, hearing loss
Meniere disease
40
erythrooderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungicides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis + malignant T cells in blood)
41
facial muscle spasm upon tapping
chvostek sign (hypocalcemia)
42
fat, female, forty, and fertile
cholelithiasis (gallstones)
43
fever, chills, headache, myalgia following antibiotic treatment for syphilis
jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
44
fever, cough, conjunctivitis, coryza, diffuse rash
measles
45
fever, night sweats, weight loss
B symptoms of lymphoma
46
fibrous places in soft tissue of penis with abnormal curvature
peyronie disease (connective tissue disorder)
47
golden brown rings around peripheral cornea
wilson disease
48
gout, intellectual disability, self-mutiliatin behavior in a boy
Lesch-nyhan syndrome (HGPRT deficiency)
49
hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
peutz-Jeghers syndrome (inherited, benign polyposis)
50
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
gaucher disease
51
hereditary nephritis, sensorineural hearing loss, cataracts
alport syndrome (type IV collagen defect)
52
hyperphagia, hyper sexuality, hyperorality, hyperdociliy
kluver-bucy syndrome (B/L amygdala lesion)
53
hyperreflexia, hypertonia, babinski sing present
UMN damage
54
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
55
hypoxemia, polycythemia, hypercapnia
chronic bronchitis
56
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
patau syndrome (trisomy 13)
57
infect with hypoglycemia, hepatomegaly
cori disease (debranching enzyme def) or von gierke disease (G6PD def)
58
infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
edwards syndrome (trisomy 18)
59
jaundice, palpable distended non-tender gallbladder
courvoisier sign (distal malignant obstruction of biliary tree)
60
lucid interval after traumatic brain injury
epidural hematoma
61
male child, recurrent infections, no mature B cells
bruton disease (X-linked agammaglobulinemia)
62
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
muffled heart sounds, distended neck veins, hypotension
beck triad of cardiac tamponade
64
multiple colon polyps, osteomas/soft tissue tumors, impacted/sup/ernumerary teeth
gardner syndrome (Subtype of FAP)
65
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
pompe disease (alpha 1,4 glucosidase def)
66
no lactation postpartum, absent menstruation, cold intolerance
sheehan syndrome
67
nystagmus, intention tremor, scanning speech, B/L internuclear ophthalmoplegia
multiple sclerosis
68
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolysis d/t M. pneumonia, IM, or CLL)
69
painful fingers/toes chaining color from white to blue to red with cold or stress
raynaud phenomenon
70
painful, raised red lesions on pads of fingers/toes
osler nodes
71
painless erythematous lesions on palms and soles
janeway lesion
72
painless jaundice
cancer of the pancreatic head obstructing bile duct
73
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
henoch-schonlein purpurn (IgA vasculitis)
74
pancreatic, pituitary, parathyroid tumors
MEN1
75
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
76
pink complexion, dyspnea, hyperventilation
emphysema or alpha 1 antitrypsin def
77
polyuria, renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi snydorme (multiple combined dysfunction of prox convoluted tubule)
78
pruritus purple, polygonal planar papules and plaques
lichen planus
79
ptosis, mitosis, anhidrosis
horner syndrome
80
pupil accommodates but doesn't react
neurosyphilis (argyll robertson pupil)
81
rapidly progressive limb weakness that ascends following GI/URI
guillain-barre syndrome
82
rash on palms and soles
coxsachie A, secondary syphilis, rocky mountain spotted fever
83
recurrent cold (non inflamed) abscesses, unusual eczema, high serum IgE
hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
84
red currant jelly sputum in alcoholics or diabetics
klebsiella pneumoniae pneumonia
85
red currant jelly stools
acute mesenteric ischemia (adults), intussusception (children)
86
red, itchy, swollen rash of nipple/areola
paget disease of breast
87
red urine in morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
88
renal cell carcinoma (B/L), hemangioblastomas, angiomatosis, pheochromocytoma
von hippel landau disease
89
resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson disease
90
retinal hemorrhages with pale centers
roth spots (bacterial endocarditis)
91
severe jaundice in neonates
crigler-najjar syndrome
92
several RLQ pain with palpation of LLQ
rovsing sign
93
short stature, cafe au late spots, thumb/radial defects, increased incidence of tumors/leukemias, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; progresses to AML)
94
single palmar crease
down syndrome
95
situs inversus, chronic sinusitis, bronchiectasis, infertility
kartagener syndrome (dynein arm defect affecting cilia)
96
skin hyperpigmenation, hypotension, fatigue
primary adrenocortical insufficiency (Addison's) (incr ACTH and alpha-MSH)
97
slow, progressive muscle weakness in boys
Becker muscular dystrophy
98
small, irregular red spots on buccal/lingual mucosa with blue-white centers
koplike spots
99
smooth, moist, painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
100
spilinter hemorrhages in fingernails
bacterial endocarditis
101
strawberry tongue
scarlet fever, kawasaki disease
102
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
turner syndrome
103
sudden swollen/painful big toe joint, tophi
gout
104
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (can't hydroxylate proline/lysin for collagen)
105
swollen, hard, painful finger joints
osteoarthritis
106
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
107
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu-sydrome
108
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (RET mutation)
109
thyroid tumors, pheochromocytomas, ganglioneuromatosis
MEN 2B (RET mutation)
110
toe extension/fanning upon plantar scrap
babinski sign
111
urethritis, conjunctivitis, arthritis in male
reactive arthritis associated with HLA-B27
112
vascular birthmark (pot wine stain) on face
nevus flames
113
vomiting blood following gastroesophageal lacerations
mallory-weiss syndrome (alcoholic and bulimic patients)
114
weight loss, diarrhea, arthritis, fever, adenopathy
whipple disease (d/t T. whipplei infection)
115
worst headache of my life
subarachnoid hemorrhage
116
Calf pseudohypertrophy
muscular dystrophy (duchenne)
117
Elastic skin, hyper-mobility of joints, increased bleeding
Ehlers-Danlos (type V defect, III in vascular type)
118
Indurated, ulcerated genital lesion
painless: primary syphilis | painful w/exudate: H. ducreyi
119
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy; (superior trunk (C5-C6) brachial plexus injury); waiter's tip