Classic Presentations Flashcards
(118 cards)
1
Q
abdominal pain, ascites, hepatomegaly
A
Budd-Chiari Syndrome
2
Q
achilles tendon xanthoma
A
Familial Hypercholesteolemia
3
Q
adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen Syndrome
meningococcemia
4
Q
anterior ‘drawer sign’ +
A
ACL injury
5
Q
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan Syndrome (fibrillin defect)
6
Q
athlete with polycythemia
A
2nd to EPO injection
7
Q
back pain, fever, night sweats, weight loss
A
Pott disease
vertebral TB
8
Q
bilateral hilar adenopathy, uveitis
A
Sarcoidosis
noncaseating granulomas
9
Q
blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
10
Q
bluish line on gingiva
A
Burton line (lead poisoning)
11
Q
bone pain, bone enlargement, arthritis
A
Paget disease of bone
osteoblast & osteoclast activity
12
Q
bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
‘butterfly’ facial rash & Raynaud phenomenon in a young female
A
Systemic lupus erythematosus
14
Q
café-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I
+ pheo/optic gliomas
15
Q
café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome
mosaic G-protein signaling mutation
16
Q
calf pseudohypertrophy
A
Muscular dystrophy (MC = Duchenne): X-linked recessive deletion of dystrophin gene
17
Q
‘cherry-red spots’ on macula
A
Tay-Sachs (ganglioside accumulation) or
Niemann-Pick (sphingomyelin accumulation);
central retinal a. occlusion
18
Q
chest pain on exertion
A
Angina
stable: w/ moderate exertion; unstable: w/ minimal exertion
19
Q
chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome
AI-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode
20
Q
child uses arms to stand up from a squat
A
Gowers sign
Duchenne muscular dystrophy
21
Q
child w/ fever later develops red rash on face that spreads to body
A
Parvovirus B19/erythema infectiosum/fifth disease);
‘slapped cheeks’
22
Q
chorea, dementia, caudate degeneration
A
Huntington disease
AD CAG repeat expansion
23
Q
chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase def)
24
Q
cold intolerance
A
Hypothyroidism
25
conjugate lateral gaze palsy. horizontal diplopia
```
Internuclear ophthalmoplegia (INO)
MLF damage --> b/l = multiple sclerosis; unilateral = stroke
```
26
continuous 'machine-like' heart murmur
PDA
| close w/ indomethacin; open/maintain w/ misoprostol
27
cutaneous/dermal edema d/t CT deposition
Myxedema
(hypothyroidism = periorbital/facial)
(Graves disease = periorbital + pretibial)
28
dark purple skin/mouth nodules in AIDS patient
Kaposi sarcoma
| HHV-8
29
deep, labored breathing/hyperventilation
```
Kussmaul respirations
(diabetic ketoacidosis)
```
30
dermatitis, dementia, diarrhea
Pellagra
| niacin/Vit B3 def
31
DCM, edema, alcoholism or malnutrition
```
Wet beriberi
(thiamine/Vit B1 def)
```
32
dog or cate bite resulting in infection
Pasteurella multocida
| cellulitis at inoculation site
33
dry eyes, dry mouth, arthritis
```
Sjogren syndrome
(AI destruction of exocrine glands)
```
34
dysphagia (esophageal webs), glossitis, IDA
Plummer-Vinson syndrome
| may progress to esophageal SqCC
35
elastic skin, hypermobility of joints
Ehler-Danlos syndrome
| type III collagen defect
36
enlarged, hard left supraclavicular node
```
Virchow node
(abdominal metastasis)
```
37
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
```
Mycosis fungiodes (cutaneous T-cell lymphoma) OR
Sézary syndrome (MF + malignant T-cell in blood)
```
38
facial muscle spasm upon tapping
Chvostek sign
| hypocalcemia
39
fat, female, forty, fertile
Cholelithiasis
| gallstones
40
fever, chills, headache, myalgia following abx tx for syphilis
Jarisch-Herxheimer reaction
| rapid lysis of spirochetes --> toxin release
41
fever, cough, conjunctivitis, coryza, diffuse rash
Measles
42
fever, night sweats, weight loss
B symptoms (staging) of lymphoma
43
fibrous plaques in soft tissue of penis
Peyronie disease
| CT disorder
44
gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome
| HGPRT def, X-linked recessive
45
green-yellow rings around peripheral cornea
Kayser-Fleischer rings
| Wilson disease
46
hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
| inheritied, benign polyposis --> bowel obstruction; GI cancer risk
47
hepatosplenomegaly, osteoporosis, neurologic symptoms
```
Gaucher disease
(glucocerebrosidase def)
```
48
hereditary nephritis, sensorineural hearing loss, cataracts
```
Alport syndrome
(type IV collagen mutation)
```
49
hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome
| b/l amygdala lesion
50
hyperreflexia, hypertonia, Babinski sign +
UMN damage
51
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
52
hypoxemia, polycythemia, hypercapnia
'Blue bloater'
| chronic bronchitis: mucous cell hyperplasia
53
indurated, ulcerated genital lesion
Nonpainful: chancre (1' syphilis)
| Painful w/ exudate: chancroid (H. ducreyi)
54
infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome
| trisomy 13
55
infant w/ FTT, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease
| sphingomyelinase def
56
infant w/ hypoglycemia, FTT, hepatosplenomegaly
```
Cori disease (debranching enzyme def) OR
Von Gierke disease (glucose-6-phosphatase def, more severe)
```
57
infant w/ microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome
| trisomy 18
58
jaundice, palpable distended non-tender gallbladder
```
Courvoisier sign
(biliary tree distal obstruction)
```
59
large rash w/ bull's-eye apperance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease-Borrelia + Babesiosis-Babesia)
60
lucid interval after TBI
Epidural hematoma
| middle meningeal a. rupture
61
male child, recurrent infections, no mature B cells
Bruton disease
| X-linked agammaglobulinemia
62
mucosal bleeding and prolonged bleeding time
```
Glanzmann thrombasthenia
(GpIIb/IIIa defect --> platelet aggregation defect)
```
63
muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome
| FAP subtype)
65
myopathy (infantile HCM), exercise intolerance
```
Pompe disease
(lysosomal a1,4-glucosidase def)
```
66
neonate w/ arm paralysis following difficult births
Erb-Duchenne palsy
| superior trunk [C5-C6] brachial plexus injury: 'waiter's tip'
67
no lactation post-partum, absent menstruation, cold intolerance
Sheehan syndrome
| pituitary infarction
68
nystagmus, intention tremor, scanning speech, b/l INO
Multiple sclerosis
69
oscillating slow/fast breathing
Cheyne-Stokes respirations
| central apnea in CHF or increased intracranial P
70
painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
| AIHA d/t Mycoplasma pneumoniae, infectious mononucleosis
71
painful, pale, cold fingers/toes
Raynaud phenomenon
| vasospasm in extremities
72
painful, raised red lesions on pad of fingers/toes
```
Osler nodes
(infective endocarditis, IC deposition)
```
73
painless erythematous lesions on palms/soles
```
Janeway lesions
(infective endocarditis, septic emboli/microabscesses)
```
74
painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
palpable purpura on butt/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura
| IgA vasculitis affecting skin & kidneys
76
pancreatic, pituitary, parathyroid tumors
MEN1 (AD)
77
periorbital +/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
78
pink complexion, dyspnea, hyperventilation
'Pink puffer'
| emphysema: centriacinar [smoking], panacinar [A1AT def]
79
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
```
Fanconi syndrome
(proximal tubular reabs defect)
```
80
pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
81
ptosis, miosis, anhidrosis
Horner syndrome
| sympathetic chain lesion
82
pupil accommodates but doesn't react
Argyll Robertson pupil
| neurosyphilis
83
rapidly progressive leg weakness that ascends following GI/URI
Guillain-Barré syndrome
| acute AI inflammatory demyelinating polyneuropathy
84
rash on palms and soles
Coxsackie A,
2' syphilis,
Rocky Mountain spotted fever
85
recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome
| Job syndrome: neutrophil chemotaxis abnormality
86
red 'currant jelly' sputum in alcoholic or diabetic patient
Klebsiella pneumoniae
87
red 'currant jelly' stools
Acute mesenteric ischemia (adults);
| Intususception (infants)
88
red, itchy, swollen rash of nipple/areola
Paget disease of the breast
| sign of underlying neoplasm
89
red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
90
renal cell carcinoma (b/l), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
| dominant tumor suppressor gene mutation
91
resting tremor, rigidity, akinesia, postural instability
```
Parkinson disease
(nigrostriatal dopamine depletion)
```
92
retinal hemorrhages with pale centers
```
Roth spots
(bacterial endocarditis)
```
93
severe jaundice in neonate
Crigler-Najjar syndrome
| congenital unconjugated hyperbilirubinemia
94
severe RLQ pain with palpation of LLQ
Rovsing sign
| acute appendicitis
95
severe RLQ pain with rebound tenderness
McBurney sign
| acute appendicitis
96
short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia
| genetic loss of DNA crosslink repair; often progresses to AML
97
single palmar crease
Down syndrome
98
situs inversus, chronic sinusitis, bronchiectasis, infertility
```
Kartagener syndrome
(dynein arm defect affecting cilia)
```
99
skin hyperpigmentation, hypotension, fatigue
Addison disease
| 1' adrenocortical insuff causes increased ACTH and a-MSH production
100
slow, progressive muscle weakness in boys
Becker muscular dystrophy
| X-linked missense mutation in dystrophin; less severe than Duchenne
101
small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
Koplik spots
| measles/rubeola virus
102
smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2' syphilis)
103
splinter hemorrhages in fingernails
Bacterial endocarditis
104
'strawberry tongue'
Scarlet fever,
Kawasaki disease,
Toxic shock syndrome
105
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
| 45, XO
106
sudden swollen/painful big toe joint, tophi
Gout/podagra
| hyperuricemia
107
swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy
| vit C def: can't hydroxylate Pro/Lys for collagen syn
108
swollen, hard, painful finger joints
Osteoarthritis
| osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes]
109
systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
110
thyroid and parathyroid tumors, pheochromocytoma
MEN2A
| AD RET mutation
111
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B
| AD RET mutation
112
toe extension/fanning upon planta scrape
Babinski sign
| UMN lesion
113
unilateral facial drooping involving forehead
Facial nerve palsy
| LMN CN VII palsy
114
urethritis, conjunctivitis, arthritis in a male
Reactive arthritis a/w HLA-B27
| Reiter syndrome
115
vascular birthmark (port-wine stain)
Hemangioma
| benign, but a/w Sturge-Weber syndrome
116
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome
| alcoholic & bulimic patients
117
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
(Tropheryma whipplei)
(CAN - cardio/arthritis/neuro sx's)
118
'worst headache of my life'
Subarachnoid hemorrhage
