Classic Presentations Flashcards
(126 cards)
1
Q
abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium difficile infection
3
Q
Achilles tendon xanthoma
A
familial hypercholesterolemia (decreased LDL receptor signaling)
4
Q
adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
anterior “drawer sign” positive
A
anterior cruciate ligament injury
7
Q
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
athlete w/ polycythemia
A
secondary to EPO injection
9
Q
back pain, fever, night sweats
A
Pott dz (vertebral TB)
10
Q
b/l acoustic schwannomas
A
neurofibromatosis type II
11
Q
b/l hilar lymphadenopathy, uveitis
A
sarcoidosis (noncaseating granulomas)
12
Q
black eschar on face of pt w/ DKA
A
Mucor or Rhizopus fungal infection
13
Q
blue sclera
A
osteogenesis imperfecta (type I collagen defect)
14
Q
bluish line on gingiva
A
Burton line (lead poisoning)
15
Q
bone pain, bone enlargement, arthritis
A
Paget dz of bone (increased osteoblastic and osteoclastic activity)
16
Q
bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation
17
Q
“butterfly” facial rash and Raynaud phenomenon in a young female
A
SLE
18
Q
cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
neurofibromatosis type I, pheochromocytoma, optic gliomas
19
Q
cafe-au-lait spots (u/l), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
20
Q
calf pseudohypertrophy
A
muscular dystrophy (most commonly Duchenne, d/t XR frameshift mutation of dystrophin gene)
21
Q
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
A
Kawasaki dz (tx w/ IVIG and ASA)
22
Q
“cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation), Niemann-Pick (sphingomyelin accumulation), or central retinal artery occlusion
23
Q
chest pain on exertion
A
angina (stable: w/ moderate exertion; unstable: w/ minimal exertion or at rest)
24
Q
chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
25
chest pain w/ ST depressions on EKG
unstable angina (troponins -) or NSTEMI (troponins +)
26
child uses arms to stand up from squat
Gowers sign (Duchenne muscular dystrophy)
27
chorea, dementa, caudate degeneration
Huntington dz (AD CAG repeat expansion)
28
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
29
chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
McArdle dz (skeletal muscle glycogen phosphorylase deficiency)
30
cold intolerance
hypothyroidism
31
conjugate horizontal gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF; may be u/l or b/l)
32
continuous "machine-like" heart murmur
PDA (close w/ indomethacin; open or maintain w/ PGE analogs)
33
cutaneous/dermal edema d/t connective tissue deposition
myxedema (caused by hypothyroidism, Graves dz [pretibial])
34
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome (R-sided cardiac valvular lesions, increased 5-HIAA)
35
dark purple skin/mouth nodules in pt w/ AIDS
Kaposi sarcoma, associated w/ HHV-8
36
deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
37
dermatitis, dementia, diarrhea
pellagra (niacin [vB3] deficiency)
38
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamine [vB1] deficiency)
39
dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
40
dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
41
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal SCC)
42
elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
43
enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
44
episodic vertigo, tinnitus, hearing loss
Meniere dz
45
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
46
facial muscle spasms upon tapping
Chvostek sign (hypocalcemia)
47
fat, female, forty, fertile, flatulent
cholelithiasis (gallstones)
48
fever, chills, HA, myalgia following antibiotic tx for syphilis
Jarish-Herxheimer reaciton (rapid lysis of spirochetes results in endotoxin release)
49
fever, cough, conjunctivitis, coryza, diffuse rash
measles
50
fever, night sweats, weight loss
B sx (staging) of lymphoma
51
fibrous plaques in soft tissue of penis w/ abnormal curvature
Peyronie dz (connective tissue disorder)
52
golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson dz)
53
gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, XR)
54
hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
55
HSM, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher dz (glucocerebrosidase deficiency)
56
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
57
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (b/l amygdala lesion)
58
hyperreflexia, hypertonia, Babinski sign present
UMN damage
59
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
60
hypoxemia, polycythemia, hypercapnia
"blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
61
indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilis, Treponema pallidum); painful, w/ exudate: chancroid (Haemophilus ducreyi)
62
infant w/ "cherry red" spot on macula, HSM, and neurodegeneration
Niemann-Pick dz (genetic sphingomyelinase deficiency)
63
infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
64
infant w/ hypoglycemia, hepatomegaly
Cori dz (debranching enzyme deficiency) or von Gierke dz (glucose-6-phosphatase deficiency, more severe)
65
infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
66
jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
67
large rash w/ bull's-eye appearance
erythema chronicum migrans from Ixodes tick bite (Lyme dz: Borrelia burgdorferi)
68
lucid interval after TBI
epidural hematoma (MMA rupture)
69
male child, recurrent infections, no mature B cells
Bruton dz (X-linked agammaglobulinemia)
70
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation d/t lack of GpIIb/IIIa)
71
muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
72
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
73
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe dz (lysosomal alpha-1,4-glucosidase deficiency)
74
neonate w/ arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
75
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
76
nystagmus, intention tremor, scanning speech, b/l internuclear ophthalmoplegia
Charcot triad of MS
77
painful blue fingers/toes, hemolytic anemia
cold agglutinin dz (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
painful fingers/toes changing color from blue to white to red w/ cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
80
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
painless jaundice
cancer of the pancreatic head obstructing bile duct
82
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
83
pancreatic, pituitary, parathyroid tumors
MEN 1 (AD)
84
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
85
pink complexion, dyspnea, hyperventilation
"pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
86
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the PCT)
87
pruritic, purple, polygonal planar papules and plaques (6 Ps)
lichen planus
88
ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
89
pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
90
rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever, Kawasaki dz
92
recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
93
red "currant jelly" sputum in alcoholic or diabetic pts
Klebsiella pneumoniae pneumonia
94
red "currant jelly" stools
acute mesenteric ischemia (adults, intussusception (children)
95
red, itchy, swollen rash of nipple/areola
Paget dz of breast (sign of underlying neoplasm)
96
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
97
renal cell carcinoma (b/l), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau dz (dominant tumor suppressor gene mutation)
98
resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson dz (loss of dopaminergic neurons in substantia nigra pars compacta)
99
retinal hemorrhages w/ pale centers
Roth spots (bacterial endocarditis)
100
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
101
severe RLQ pain w/ palpation of LLQ
Rovsing sign (acute appendicitis)
102
severe RLQ pain w/ rebound tenderness
McBurney sign (acute appendicitis)
103
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)
104
single palmar crease
Down syndrome
105
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
106
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (eg, Addison dz) causes increased ACTH and increased alpha-MSH production
107
slow, progressive muscle weakness in boys
Becker muscular dystrophy (XR mutation in dystrophin; less severe than Duchenne)
108
small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
Koplik spots (measles; rubeola virus)
109
smooth, moist, painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
110
splinter hemorrhages in fingernails
bacterial endocarditis
111
"strawberry tongue"
scarlet fever, Kawasaki dz
112
streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
113
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
114
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vC deficiency; can't hydroxylate proline/lysine for collagen synthesis)
115
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
116
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
117
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
118
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD RET mutation)
119
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD RET mutation)
120
toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
121
u/l facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare forehead
122
urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated w/ HLA-B27
123
vascular birthmark (port-wine stain) of the face
nevus flammeus (benign, but associated w/ Sturge-Weber syndrome)
124
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic pts)
125
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple dz (Tropheryma whipplei)
126
"worst headache of my life"
SAH
