Classic Presentations Flashcards

1
Q

abd pain, ascites, hepatosplenomegaly

A

Budd-chiari synd

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2
Q

abd pain, diarrhea, leukocytosis, recent ABx use

A

C diff infection

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3
Q

achilles tendon xanthoma

A

familial hypercholestolerolemia

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4
Q

adrenal hemorrhage, hTN,DIC

A

Waterhous-Friderichsen synd (meningococcemia)

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5
Q

anaphylaxis after blood transfusion

A

IgA deficiency

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6
Q

+ anterior drawer sign

A

ACL injury

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7
Q

archnodactyly, lens dislocation (up), aortic dissection, hyperflexible jnts

A

Marfan synd (fibrillin defect)

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8
Q

athlete w/ polycythemia

A

2o to EPO injection

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9
Q

back pain, fever, night sweats

A

Pott dz (vertebral TB)

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10
Q

bilat acoustic schwannomas

A

neurofibromatosis type 2

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11
Q

bilat hilar adenopathy, uveitis

A

sarcoidosis (non-caseating granulomas)

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12
Q

black eschar on face of person with DKA

A

mucor or rhizopus fungal infection

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13
Q

blue sclera

A

osteogenesis imperfecta (type I 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

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16
Q

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

A

arotic regurge

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17
Q

butterfly facial rash and raynauds

A

SLE

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18
Q

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

A

neurofibromatosis type 1

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19
Q

calf pseudohypertrophy

A

muscular dystrophy (usually duchenne - X-linked mutation of dystrophin gene)

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20
Q

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

A

Kawasaki dz

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21
Q

cherry-red spots on macula

A

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

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22
Q

chest pain on exertion

A

angina (stable if w/ moderate exertion, unstable if @ minimal or rest)

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23
Q

chest pain, pericardial effusion, persistent fever post MI

A

Dressler syndrome (autoimmune mediated)

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24
Q

chest pain w/ ST depression on EKG

A

unstable angina (-troponins) or NSTEMI (+troponins)

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25
child uses arms to stand from squat
duchenne muscular dystrophy (Gower's sign)
26
child w/ fever later develops red rash on face that spreads to body
fifth dz (slapped cheeks, parvovirus B19)
27
chorea, dementia, caudate degeneration
HUntington dz (AutoDom CAG repeat)
28
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
29
chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
McArdle dz (skeletal muscle glycogen phosphorylase def)
30
cold intolerance
hypothyroidism
31
conjugate horizontal gaze palsy, horizontal diploplia
internuclear opthalmoplegia (damage to MLF, uni or bilat)
32
continuous, machine like murmur
PDA
33
cutaneous/dermal edema due to CT deposition
myxedema (hypothyroidism)
34
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome
35
dark purple skin/mouth nodules in AIDS pt
Kaposi sarcoma, a/w HHV-8
36
deep labored breathing, hyperventilation
DKA (kussmaul respirations)
37
dermatitis, dementia, diarrhea
pellagra (niacin (B3) def)
38
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beri beri (thiamine (B1) def)
39
dog/cat bite resulting in infection
pasturella multicida
40
dry eyes, dry mouth, arthritis
Sjogrens (autoimmune)
41
dysphagia, glossitis, iron def anemia
Plummer-Vinson synd (may progress to squamous cell carcinoma)
42
elastic skin, hypermobility of joints, increased bleeding
Ehlers Danlos synd (type V collagen defect)
43
enlarged, hard left supraclavicular node
Virchow node (abdominal met)
44
episodic vertigo, tinnitus, hearing oss
Meniere dz
45
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T-cel lymphoma) ir Sezary synd (mycosis fungoides + malig T cells in blood)
46
facial muscle spasm when tapping the cheek
Chvostek sign (hypocalcemia)
47
fat, female, forty, fertile
cholelithiasis (gallstones)
48
fever, chills, HA, myalgia, after Tx for syphilis
Jarisch-Herxheimer rxn (rapid lysis of spirochetes releases endotoxin)
49
fever, cough, conjunctivitis, coryza, diffuse rash
measles
50
fever, night sweats, weight loss
B symptoms of lmphoma | TB?
51
fibrous plaques in soft tissue of penis w/ abnormal curvature
peyronie dz (CT d/o)
52
golden brown rings around cornea
Wilson dz (Kayser-fleisher rings)
53
gout, intellectual disability, self mutilation in a boy
Lesh-Nyhan syndrome (HGPRT def, X-link recessive) | lip biting?
54
hamartomous GI polyps, hyperpigmentation of mouth/hands/feet/genitalia
Peutz-Jeghers synd
55
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis
Gaucher dz (glucocerebrosidase def)
56
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
57
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy synd (bilat amygdala lesion)
58
hyperreflexia, hypertonia, babinski sign
UMN damage
59
hyporeflexia, hypotonia, atrophy, fasiculations
LMN damage
60
hypoxemia, polycythemia, hypercapnia
chronic bronchitis (blue bloater)
61
indurated, ulcerated genital lesion
nonpainful = chancre (primary syphilis, treponema pallidum) painful w/ exudate = chancroid (haemophilus ducreyi)
62
infact w/ cleft lip/palate, micro/holopresencephaly, polydactyly, cutis aplasia
patau syndrome (trisomy 13)
63
infact w/ hypoglycemia, hepatomegaly
``` Cori dz (debranching enzyme def) Von Gierke dz (G6PD, more severe) ```
64
infant w/ microcephaly, rocker-bottom feet, clenched hands, heart defects
Edwards synd (trisomy 18)
65
jaundice, palpable distended, non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
66
large rash w/ bullseye
erythe,a chronicum migrans (lyme disease, borrelia burgdorferi)
67
lucid interval after traumatic brain injury
epidural hematoma (MMA rupture)
68
male child, recurrent infections, no mature B cells
Bruton dz (X-linked agammaglobulinemia)
69
mucosal bleeding and prolonged bleeding time
g;anzmann thrombasthenia (no GpIIB/IIIa)
70
muffled heart sounds, distended neck veins, hTN
cardiac tamponade (Beck's triad)
71
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
72
myopathy (infantile hypertrophic CM), exercise intolerance
Pompe dz (lysosomal alpha-1,4-gluconidase def)
73
neonate w/ arm paralysis after birth
Erd-Duchenne palsy (superior trunk, C5-C6 brachial plexus injury --> waiters tip hand)
74
no lactation postpartum, absent menstruation, cold intolerance
Sheehan synd (pit infarction)
75
nystagmus, intention tremor, scanning speech, bilat internuclear opthalmoplegia
MS
76
painful blue fingers/toes, hemolytic anemia
cold agglutinin dz (autoimmune hemolytic anemia from mycoplasma pneumoniae, infectious mono, or CLL)
77
painful fingers/toes changing from blue to white to red w/ cold or stress
Raynaud phenomenon (vasospasm in extremities)
78
painful, raised red lesions on finger/toe pads
osler nodes (infective endocarditis, immune complex deposition)
79
painless erythematous lesions on palms/soles
janeway lesions (infective endocarditis, septic emboli/microabscesses)
80
painless jaundice
cancer of pancreatic head obstructing bile duct
81
palpable purpura on buttocks/legs, joint pain, abd pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affects skin/kidneys)
82
pancreatic, pituitary, and parathyroid tumors
MEN 1 (AutoDom)
83
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
84
pink complexion, dyspnea, hyperventilation
emphysema (centriacinr (smoking) or panacinar (alpha 1 antitrypsin def))
85
polyuria, RTA type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
fanconi syndrome
86
pruritic, purple, polygonal planar papules and plaques (6Ps)
lichen planus
87
ptosis, miosis, anhidrosis
Horner syndrome (symp chain lesion)
88
pupil accommodates but doesn't react
neurosyphilis (argyll robertson pupils)
89
rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barre synd
90
rash on palms and soles
coxsackie A 2o syphilis rocky mountain spotted fever
91
recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
92
red "current jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
93
red "current jelly" stools
acute mesenteric ischemia (adults) | intussusception (kids)
94
red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
95
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
96
renal cell carcinoma (bilat), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau dz, (dom tumor suppressor gene mutation)
97
resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson dz (loss of dopa neurons in substantia nigra pars compacta)
98
retinal hemorrhages with pale centers
roth spots (bacterial endocarditis)
99
severe jaundice in neonates
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
100
severe RLQ pain w/ palpation of LLQ
Rovsing sign (acute appendicitis)
101
severe RLQ pain w/ deep tenderness
McBurney sign (acute appendicitis)
102
short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair, often progresses to AML)
103
single palmar crease
Down syndrome
104
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener synd (dynein arm defect affecting cilia)
105
skin hyperpigmentation, hTN, fatigue
primary adrenocortical insuff (like Addisons) causes increased production of ACTH and MSH
106
slow, progressive muscle weakness in boys
becker muscular dystrophy (X-linked missense in dystrophin, less severe than duchenne)
107
small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
koplik spots (measles)
108
smooth, moist, painless wart-like white lesions on genitals
condylomata lata (2o syphilis)
109
splinter hemorrhages in fingernails
bacterial endocarditis
110
strawberry tongue
scarlet fever | kawasaki dz
111
streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner synd (45, XO)
112
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
113
swollen gums, mucosal bleeding, poor wound healing, petichiae
scurvy (vit C def: cant hydroxylate proline/lysine for collagen synth)
114
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP = Bouchard nodes; DIP = Heberden nodes)
115
systolic ejection murmur (crescendo decrescendo)
aortic stenosis
116
telangiectasias, recurrent epitaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
osler-weber rendu syndrome
117
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AutoDom RET mutation)
118
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AutoDom RET mutation)
119
toe extension w/ plantar scrape
Babinski sign (UMN lesion)
120
unilat facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
121
urethritis, conjunctivitis, arthritis in a male
reactive arthritis a/w HLA-B27
122
vascular birthmark (port wine stain) of the face
nevus flammeus (benign but a/w Sturge-Weber synd)
123
vomiting blood following gastroesophageal lacerations
mallory-weiss syndrome (alcoholic and bulimic pts)
124
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple dz (tropheryma whipplei)
125
worst headache of my life
subarachnoid hemorrhage