Classic Presentations Flashcards
(127 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 (decrease LDL receptor)
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
A
anterior cruciate ligament injury
7
Q
arachnodactyly, lens dislocation, aortic diessection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
athlete with polycythemia
A
secondary to erythropoietin injection
9
Q
back pain, fever, night sweats
A
Pott disease (TB)
10
Q
bilateral acoustic schwannoma
A
neurofibromatosis type 2
11
Q
bilateral hilar adenopathy, uveitis
A
sarcoidosis (noncaseating granulomas)
12
Q
black eschar on face of patient with 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 disease of bone
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
systemic lupus erythematosus (SLE)
18
Q
Cafe au lair spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
neurofibromatosis type I, pheochromocytoma, optic gliomas
19
Q
Cafe au lair spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune Albright syndrome (G protein signaling mutation)
20
Q
calf pseudohypertrophy
A
muscular dystrophy (usually Duchenne’s)
21
Q
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
A
Kawasaki disease
22
Q
cherry red spot on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
23
Q
chest pain on exertion
A
angina
24
Q
chest pain, pericardial effusion/friction rub, persistent fever after MI
A
Dressler syndrome (autoimmune post MI pericarditis)
25
chest pain with ST depressions on EKG
unstable angina (troponin neg) or NSTEMI (troponin pos)
26
child uses arms to stand up from squat
Gowers sign (DMD)
27
child with fever later develops red rash on face that spread to body
'slapped cheeks' (erythema infectiosum/fifth disease/parvovirus B19)
28
corea, dementia, caudate degeneration
Huntington disease
29
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
30
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
cold intolerance
hypothyroidism
32
conjugate horizontal gaze palsy, horizontal diplopia
internuclear opthalmoplegia (damage to MLF, uni or bilateral)
33
continuous machine like murmur
PDA
34
cutaneous/dermal edema due to connective tissue deposition
myxedema (from hypothyroidism, Graves)
35
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome
36
dark purple skin/mouth nodules in patient with AIDS
Kaposi sarcoma
37
deep labored breathing/hyperventilation
Kussmaul respirations (DKA)
38
dermatitis, dementia, diarrhea
pellagra (niacin vit B3 deficiency)
39
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberit (thiamine vit B1 deficiency)
40
dog or cat bite resulting in infection
Pasteurella multocida (cellulitis)
41
dry eyes, dry mouth, arthritis
Sjogren syndrome
42
dysphagia (eso web), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
43
elastic skin, hyper mobility of joints, increase bleeding
Ehlers Danlos syndrome (type V collagen defect, type III collagen defect in vascular subtype)
44
enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
episodic vertigo, tinnitus, hearing loss
Meniere disease
46
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungicides and malignant T cells in blood)
47
facial muscle spasm upon tapping
Chvostek sing (hypocalcemia)
48
fat, female, forty, and fertile
cholethisiasis
49
fever, chills, headache, myalgia after antibiotic treatment for syphilis
Jarisch-Herxheimer reaction
50
fever, cough, conjunctivitis, coryza, diffuse rash
measles
51
fever, night sweats, weight loss
B symptoms of lymphoma
52
fibrous plaques in soft tissue to penis with abnormal curvature
Peyronie disease (CT disorder)
53
golden brown rings around peripheral cornea
Kayser Fleischer rings
54
gout, intellectual disability, self-mutilating behavior in a boy
Lesch Nyhan syndrome (HGPRT deficiency, X linked)
55
hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
Peutz Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increase risk cancer usually GI)
56
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher disease (glucocerebrosidase deficiency)
57
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
58
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilat amygdala lesion)
59
hyperreflexia, hypertonia, Babinski pos
UMN lesion
60
hyporeflexia, hypotonia, atrophy, fasiculations
LMN lesion
61
hypoxemia, polycythemia, hypercapnia
'blue bloater' (chronic bronchitis-hyperplasia of mucous cells)
62
indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilis)
| painful with exudate: chancroid (Haemophilus ducreyi)
63
infant with cherry red spot on macula, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
64
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
65
infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)
66
infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
67
jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
68
large rash with bull's eye appearance
erythema chronic migraines from Ixodes tick bite
69
lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
70
male child, recurrent infections, no mature B cells
Bruton disease (X linked agammaglobulinemia)
71
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa)
72
muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
73
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype FAP)
74
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha 1 4 glucosidase deficiency
75
neonate with arm paralysis following a difficult birth
Erb Duchenne palsy (superior trunk C5-C6 brachila plexus injury aka waiter's tip)
76
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pit infarct)
77
nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
multiple sclerosis
78
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis, CLL)
79
painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm)
80
painful, raised red lesions on pads of fingers/toes
Osler nodes (infectious endocarditis, immune complex deposition)
81
painful erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
82
painless jaundice
cancer of the pancreatic head obstructing the bile duct
83
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch Scholein purpura (IgA vasculitis affecting skin and kidneys)
84
pancreatic, pituitary, parathyroid tumors
MEN I (auto dom)
85
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
86
pink complexion, dyspnea, hyperventilation
'pink puffer' (emphysema)
87
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
88
pruritic, purple, polygonal planar papules, and plauqes
linchen planus
89
ptosis, miosis, anhidrosis
Horner syndrome
90
pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
91
rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
92
rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
93
recurrent cold (noninflammed) abscesses, unusual eczema, high serum IgE
hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
94
red currant jelly sputum in alcoholic or diabetic patient
Klebsiella pneumoniae pneumonia
95
red currant jelly stools
acute mesenteric ischemia (adults), intussusception (children)
96
red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
97
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
98
renal cell carcinoma (bilat), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
99
resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease
100
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
101
severe jaundice in neonate
Crigler Najjar syndrome (congential unconjugated hyperbilirubinemia)
102
severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
103
severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
104
short stature, cafe au lait spots, tumb/radial defects, increase incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA cross link repair, often progresses AML)
105
single palmar crease
Down syndrome
106
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
107
skin hyper pigmentation, hypotension, fatigue
primary adrenocortical insufficiency (Addison's disease) causes increase ACTH and alpha MSH production
108
slow, progressive muscle weakness in boys
Becker muscular dystrophy (X linked missense mutation in dystrophin, less severe than DMD)
109
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles/rubeola virus)
110
smooth, moist, painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
111
splinter hemorrhages in fingernails
bacterial endocarditis
112
strawberry tongue
scarlet fever, Kawasaki disease
113
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
114
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
115
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vit C deficiency, can't hydroxylate proline/lysine for collagen synthesis)
116
swollen, hard, painful finger joints
osteoarthritis (osteophyes on PIP, DIP)
117
systolic ejection murmur (crescendo-descrescendo)
aortic stenosis
118
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler Weber Rendu syndrome
119
thyroid and parathyroid tumors, pheochromatoma
MEN 2A
120
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B
121
toe extension/fanning upon plantar scrape
Babinski sign
122
unilateral facial drooping involving forehead
LMN facial nerve palsy (UMN lesion spare forehead)
123
urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated with HLA B27
124
vascular birthmark (port wine stain of face)
nevus flammeus (benign but ass with Sturge Weber syndrome)
125
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (in alcoholics and bulimics)
126
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
127
worst headache of my life
subarachnoid hemorrhage
