Classic presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari Syndrome
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
C. diff
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friedrichsen syndrome (disseminated meningococcemia)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Anterior drawer sign
A
ACL tear
7
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome
8
Q
Athlete with polycythemia
A
Result of erythropoietin injection
9
Q
Back pain, fever, night sweats
A
Pott disease
10
Q
Bilateral acoustic schwannomas
A
Neurofibromatosis type 2
11
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of patient with diabetic ketoacidosis
A
Mucor or Rhizopus infection
13
Q
Blue sclera
A
Osteogenesis imperfecta
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
SLE
18
Q
Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
NF type 1
19
Q
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome
20
Q
Calf pseudohypertrophy
A
Muscular dystrophy
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctivae and tongue
A
Kawasaki disease
22
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation)
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 following MI
A
Dressler syndrome (autoimmune post-MI fibrinous pericarditis)
25
Chest pain with ST depressions on EKG
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Unstable angina (-troponin)
NSTEMI (+troponin)
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26
Child uses arms to stand up from squat
Gowers sign--Duchenne muscular dystrophy
27
Child with fever later develops red rash on face that spreads to body
Slapped cheeks--erythema infectiosum/Fifth disease--parvovirus B19
28
Chorea, dementia, caudate degeneration
Huntington disease (Autosomal dominant CAG repeat expansion)
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 ophthalmoplegia
33
Continuous machine-like murmur
PDA (close with indomethacin, prop open with prostaglandins)
34
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (pretibial in Graves disease)
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome
36
Dark purple skin/mouth nodules in AIDS patient
Kaposi sarcoma (HHV-8)
37
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
38
Dermatitis, dementia, diarrhea
Pellagra (niacin deficiency)
39
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine deficiency)
40
Dog or cat bite resulting in infection
Pasteurella multocidaSjogren syndrome
41
Dry eyes, dry mouth, arthritis
Sjogren syndrome
42
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
43
Elastic skin, joint hypermobility, increased bleeding tendency
Ehlers-Danlos syndrome
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)/Sezary syndrome (when it gets into blood)
47
Facial muscle spasm upon tapping
Chvostek sign of hypocalcemia
48
Fat, female, forty, fertile
Cholelithiasis (gallstones)
49
Antibiotic treatment for syphilis-->fever, chills, headache, myalgia
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 of penis with abnormal curvature
Peyronie disease
53
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
54
Gout, intellectual disability, self-mutilation in a boy
Lesch-Nyhan syndrome (HGPRT deficiency)
55
Hamartomatous GI polyps, hyperpigmentation of hands/feet/genitalia
Peutz-Jeghers syndrome
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher disease
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
61
Hypoxemia, polycythemia, hypercapnia
"Blue bloater:" chronic bronchitis
62
Indurated, ulcerated genital lesion
Non-painful: chancre (syphilis)
| Painful: chancroid (H. ducreyi)
63
Infant with cherry-red macula, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease
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 (G6P deficiency)
66
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
67
Bull's eye rash
ECM from Ixodes tick carrying borrelia (Lyme disease)
68
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
69
Male child, recurrent infections, no mature B cells
Bruton's X-linked agammaglobulinemia
70
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (GPIIb/IIIa deficiency-->problems with platelet aggregation)
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 (type of FAP)
73
Infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe disease
74
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (C5-C6 injury)
75
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
76
Nystagmus, intention tremor, scanning speech, bilateral INO
Multiple sclerosis
77
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AIHA from mycoplasma pneumoniae, infectious mono, CLL)
78
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon
79
Painful, raised red lesions on pads of fingers/toes
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Osler nodes (infective endocarditis, immune complex deposition)
"ouch ouch Osler"
```
80
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
Painless jaundice
Cancer of pancreatic head obstructing bile duct
82
Palpable purpura on buttocks/legs, joint pain, hematuria
HS purpura (IgA vasculitis affecting skin and kidneys)
83
Pancreatic, pituitary, parathyroid tumors
MEN I
84
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
85
Pink complexion, dyspnea, hyperventilation
"Pink puffer:" emphysema
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
Lichen planus
88
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
89
Pupil accommodates but doesn't react
Argyll-Robinson pupil (neurosyphilis)
90
Rapidly progressive ascending limb weakness following GI/URI
Guillain-Barre
91
Rash on palms and soles
Coxsackie A, secondary syphilis, RMSF
92
Recurrent cold abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome)
93
Red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
94
Red currant jelly stools
Intussusception
95
Red, itchy, swollen rash of nipple/areola
Paget disease
96
Red urine in the morning, fragile RBCs
PNH
97
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
98
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson's
99
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
100
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia
101
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
102
Severe RLQ pain with 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 (loss of DNA crosslink repair)
104
Single palmar crease
Down syndrome (Trisomy 21)
105
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome
106
Skin hyperpigmentation, hypotension, fatigue
Primary adrenal insufficiency (leads to increased ACTH and MSH production)
107
Slow, progressive muscle weakness in boys
Becker muscular dystrophy
108
Small, irregular red spots on buccal/lingual mucosa with 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 disease
112
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
113
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (Vitamin C deficiency-->can't hydroxylate proline and lysine for collagen synthesis)
114
Swollen, hard, painful finger joints
Osteoarthritis
Bouchard nodes on PIP
Heberden nodes on DIP (old Mrs Heberden lives far away)
115
Crescendo-decrescendo systolic ejection murmur
Aortic stenosis
116
Telangiectasias, recurrent epistaxis, skin discoloration, AVM, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
117
Thyroid and PTH tumors, pheochromocytoma
MEN 2A syndrome (RET mutation)
118
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEB 2B (RET mutation)
119
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
120
Unilateral facial drooping INVOLVING forehead
LMN CN VII lesion
121
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27 (Reiter's syndrome)
122
Vascular birthmark (port-wine stain) of the face
Nevus flammeus
123
Vomiting blood following gastroesophageal laceration
Mallory-Weiss syndrome
124
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
125
Worst headache of my life
Subarachnoid hemorrhage
126
Gynecomastia+peptic ulcer disease
Cimetidine
