Classic Presentations Flashcards
(118 cards)
0
Q
Achilles’ tendon xanthoma
A
Familial hypercholesterolemia (dec LDL receptor signaling)
1
Q
Abdominal Pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friederichsen syndrome (meningococcemia)
3
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
4
Q
Athlete with polycythemia
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secondary to EPO injection
5
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
6
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
7
Q
Blue sclera
A
Osteogenesis imperfecta (type 1 collagen defect)
8
Q
Blueish line on gingiva
A
Burton’s line (lead poison)
9
Q
Bone pain, bone enlargement, arthritis
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Paget’s dz of the bone (inc osteoblastic and osteoclastic activity)
10
Q
bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurg
11
Q
“Butterfly” facial rash + Raynaud’s phenomenon in young female
A
SLE
12
Q
Cafe au lait spots, Lisch nodules (iris hamartomas)
A
NF type 1 (+ pheo, optic gliomas)
13
Q
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune Albright syndrome (mosaic G protein signaling mutation)
14
Q
Calf pseudohypertrophy
A
Muscular dystrophy (MC Duchenne’s) - X linked recessive deletion of dystrophin gene
15
Q
“Cherry red spot” on macula
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Tay Sachs (ganglioside accumulation) or Niemann-Pick (sphinomyelin accumulation), central retinal artery occlusion
16
Q
Chest pain on exertion
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Angina (stable: w/moderate exertion, unstable: with minimal exertion)
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)
18
Q
Child uses arms to stand up from squat
A
Gower’s sign (Duchenne muscular dystrophy)
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)
20
Q
Chorea, dementia, caudate degeneration
A
Huntington’s dz (AD CAG repeat expansion)
21
Q
Chronic exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscule glycogen phosphorylase deficiency)
22
Q
cold intolerance
A
hypothyroidism
23
Q
conjugate lateral gaze palsy, horizontal diplopia
A
INO (damage to MLF; bilateral in MS, unilateral in stroke)
24
continuous "machinery" heart murmur
PDA (close w/indomethacin; open or maintain w/misoprostol)
25
cutaneous/dermal edema due to connective tissue deposition
myxedema (caused by hypothyroidism, Graves' disease - pretibial)
26
dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS pts, MSM) - a/w HHV 8
27
deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
28
dermatitis, dementia, diarrhea
pellagra (niacin - B3 deficiency)
29
dilated cardiomyopathy, edema, alcoholism, or malnutrition
wet beriberi (thiamine - vit B1- defiency)
30
dog or cate bite resulting in infection
Pasteurella multocida (cellulitis at inonculation site)
31
dry eyes, dry mouth, arthritis
Sjögren's syndrome (autoimmune destruction of exocrine glands)
32
dysphagia (esophageal webs), glossitis, Fe def anemia
Plummer-Vinson syndrome (may progress to esophageal SCC)
33
elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
34
enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
35
erythroderma, lymphadenopathy, HSM, atypical T cells
Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides
36
facial muscle spasm on tapping
Chvostek's sign (hypocalcemia)
37
fat, female, forty, and fertile
cholelithiasis (gallstones)
38
fever, chills, HA, myalgia following abx rx for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
39
fever, cough, conjunctivitis, coryza, diffuse rash
Measles (morbilivirus)
40
fever, night sweats, weight loss
B symptoms (staging) or lymphoma
41
fibrous plaques in soft tissue of penis
Peyronie's disease (CT disorder)
42
gout, MR, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT def - X linked recessive)
43
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's dz)
44
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, inc cancer risk, mainly GI)
45
HSM, osteoporosis, neurologic sx
Gaucher's d (glucocerebrosidase def)
46
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of type IV collagen)
47
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
48
hyperreflexia, hypertonia, Babinski positive
UMN damage
49
hyporeflexia, hypotonia, atrophy, fasiculation
LMN damage
50
Hypoxemia, polycythemia, hypercapnia
"Blue-bloater" (chronic bronchitis: hyperplasia of mucous cells)
51
indurated, ulcerated genital lesion
nonpainful: chancre (primary syphillis, Treponema pallidum)
| painful, w/exudate: chancroid (Haemophilus ducreyi)
52
infant w/cleft lip/palate, microcephaly, or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
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infant w/FTT, HSM, and neurodegeneration
Niemann-Pick dz (genetic sphingomyelinase def)
54
infant w/hypoglycemia, FTT, and hepatomegaly
Cori's dz (debranching enzyme def)
55
infant w/microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards' syndrome (trisomy 18)
56
jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
57
large rash w/bull's-eye appearance
erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
58
lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
59
male child, recurrent infections, no mature B cells
Bruton's dz (X linked agammaglobulinemia)
60
mucosal bleeding and prolonged BT
Glanzmann's thrombasthenia (defect in plt aggregation due to lack of GPIIb/IIIa)
61
muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
62
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
63
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's dz (lyosomal alpha 1,4 glucosidase def)
64
neonate w/arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk - C5 thru C6 - brachial plexus injury: "waiter's tip")
65
no lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarct)
66
nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
multiple sclerosis
67
oscillating slow/fast breathing
Cheyne-Stokes repirations (central apnea in CHF or inc intracranial pressure)
68
painful blue fingers/toes, hemolytic anemia
Cold agglutinin dz (autoimmune hemolytic anemia caused by M.pneumoniae, infectious mono)
69
painful, pale cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
70
painful, raised red lesions on pad of fingers/toes
Osler's node (infective endocarditis, immune complex deposition)
71
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabcesses)
72
painless jaundice
cancer of pancreatic head obstructing bile duct
73
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
74
pancreatic, pituitary, parathyroid tumors
MEN 1 (AD)
75
perioribtal and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
76
pink complexion, dyspnea, hyperventilation
"pink puffer" (emphysema: centriacinar - smoking, panacinar - alpha1 antitrypsin def)
77
polyuria, RTA type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome (prox tubular reabsorption defect)
78
positive anterior drawer sign
ACL injury
79
pruritic, purple, polygonal planar papules and plaques (5 P's)
lichen planus
80
ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
81
pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphillis)
82
rapidly progressive leg weakness that ascends following GI/URI
Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
83
rash on palms and soles
coxsackie A, secondary syphillis, Rocky Mntn spotted fever
84
recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job's syndrome: PMN chemotaxis abnormality)
85
red currant jelly sputum in alcoholic or diabetic pts
Klebsiella pneumoniae
86
red currant jelly stools
acute mesenteric ischemia (adults), intussusception (kids)
87
red, itchy, swollen rash of nipple/areola
Paget's dz of the breast (represents underlying malignancy)
88
red urine in the morning, fragile RBCs
PNH
89
RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytomas
VHL (dominant tumor suppressor gene mutation)
90
resting tremor, rigidity, akinesia, postural instability
Parkinson's dz (nigrostriatal dopamine depletion)
91
retinal hemorrhages w/pale centers
Roth's spots (bacterial endocarditis)
92
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
93
severe RLQ pain w/palpation of LLQ
Rovsing's sign (appendicitis)
94
severe RLQ pain w/rebound tenderness
McBurney's sign (appendicitis)
95
short stature, inc incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
96
single palmar crease
Simian crease (Down syndrome)
97
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
98
skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenocortical insufficiency causes inc ACTH and inc alpha MSH production)
99
slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X linked missense mutation in dystrophin, less severe than Duchenne's)
100
small, irregular red spots on buccal/lingual mucosa w/blue-white centers
Koplik spots (measles, rubeola virus)
101
smooth, flat, moist, painless white lesions on genitals
condyloma lata (secondary syphillis)
102
splinter hemorrhage in fingernails
bacterial endocarditis
103
"strawberry tongue"
scarlet fever, Kawasaki disease, TSS
104
streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
105
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
106
swollen gums, mucosal bleeding, poor wound healing, spots on skin
scurvy (vit C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
107
swollen, hard painful finger joints
OA (osteophytes on PIP = bouchards, DIP = heberdens)
108
systolic ejection murmur (cresc-decresc)
aortic valve stenosis
109
thyroid and parathyroid tumors, pheos
MEN 2A (AD ret mutation)
110
thyroid tumors, pheo, ganglioneuromatosis
MEN 2B (AD ret mutation)
111
toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
112
Unilateral facial drooping involving forehead
facial nerve (LMN CN VII palsy)
113
urethritis, conjunctivitis, arthritis in a male
reactive arthritis a/w HLA-B27
114
vascular birthmark (port-wine stain)
Hemangioma (benign, but a/w Sturge-Weber syndrome)
115
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
116
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's dz (Tropheryma whipplei)
117
"worst headache of my life"
subarachnoid hemorrhage
