Classic Presentations Flashcards
(118 cards)
1
Q
abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (post-hepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
familial hypercholesterolemia (decreased LDL receptor signaling
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
+ anterior drawer sign
A
anterior cruciate ligament injury
5
Q
aracnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Athlete with polycythemia
A
2/2 erythropoietin injection
7
Q
back pain, fever, night sweats, weight loss
A
Pott disease (vertebral TB)
8
Q
bilateral hilar adenopathy, uveitis
A
sarcoidosis (non-caseating granuloma)
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 (increased osteoblastic and osteoclastic activity)
12
Q
bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
“Butterfly” facial rash and Raynaud phenomenon in a young woman
A
Systemic lupus erythematosus
14
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
neurofibromatosis type I (+pheochromocytoma, optic gliomas)
15
Q
cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G protien signaling mutation)
16
Q
Calf pseudohypertrophy
A
Duchenne muscular dystrophy
X-linked recessive deletion of dystrophin gene
17
Q
“Cherry-red spots” on macula
A
Tay-Sachs (gangioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
18
Q
chest pain on exertion
A
Angina
stable: with moderate exertion
unstable: with minimal exertion
19
Q
chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome
autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode
20
Q
child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
21
Q
child with fever later develops red rash on face that spreads to body
A
“slapped cheeks”
erythema infeciousum/Fifth disease
parvovirus B19
22
Q
chorea, dementia, caudate degeneration
A
Huntington disease
autosomal dominant CAG repeat expansion
23
Q
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease
muscle glycogen pyrophosphate deficiency
24
Q
Cold intolerance
A
hypothyroidism
25
conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia, damage to MLF
| bilateral: MS, unilateral: stroke
26
continuous "machine-like" murmur
PDA
| close with indomethacin, open/maintain with misoprostol
27
cutaneous/dermal edema due to connective tissue deposition
myxedema (2/2 hypothyroidism)
| Graves dz - pretibial myxedema
28
dark purple skin/mouth nodules in a pt with AIDS
kaposi sarcoma
| associated with HHV8
29
Deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
30
dermatitis, dementia, diarrhea
pellagra (niacin/vitamin B3 deficiency)
31
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamine/vitamin B1 deficiency)
32
dog or cat bite resulting in infection
Pasteurella multocida (cellulitis as inoculation site)
33
dry eyes, dry mouth, arthritis
Sjogren syndrome
| autoimmune destruction of exocrine glands
34
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
| may progress to esophageal squamous cell carcinoma
35
elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
36
enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
37
erythroderma, lymphadeopathy, hepatosplenomegaly, atypical T cells
```
Mycosis fungoides (cutaneous T cell lymphoma)
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
```
38
facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
39
fat, female, forty and fertile
cholelithiasis
40
fever, chills, headache, myalgia following antibiotic tx for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in 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 (connective tissue disorder)
44
gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked disease)
45
green-yellow rings around peripheral cornea
Kayse-Fleischer rings (copper accumulation from Wilson's disease)
46
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
| inherited benign polyposis can cause bowel obstruction, increased cancer risk, mainly GI
47
hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
48
hereditary nephritis, sensorineuroal hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
49
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesions)
50
hyperreflexia, hypertonia, +Babinski sign
UMN damage
51
hyporeflexa, hypotonia, atrophy, fasciculations
LMN damage
52
hypoxemia, polycythemia, hypercapnia
"Blue bloater"
| chronic bronchitis: hyperplasia of mucous cells
53
indurated, ulcerated genital lesion
nonpainful: chancre (primary syphillis, Treponema pallidum)
| painful with exudate: chancroid (Haemophilus ducreyi)
54
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
55
infant with failure to thrive, hepatosplenomegaly and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency
56
infant with hypoglycemia, failure to thrive and hepatomegaly
```
Cori disease (debranching enzyme deficiency)
Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
```
57
infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
58
jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
59
large rash with bull's-eye appearance
erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
60
lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
61
male chid, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemai)
62
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
multiple colon polyps, oseomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
65
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal a-1,4 glucosidase deficiency)
66
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk C5-6 brachial plexus injury, "waiters tip")
67
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
68
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
69
oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
70
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by 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, immune complex deposition)
73
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
74
painless jaundice
cancer of the pancreatic head obstructing bile duct
75
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
77
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
78
pink complexion, dyspnea, hyperventilation
"pink puffer"
| emphysema - centriacinar (smoking), panacinar (a1-antitrypsin deficiency)
79
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalance, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
80
puritic, 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 (neurosyphillis)
83
rapidly progressive leg weakness that ascends following GI/URI
Guillian-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
84
Rash on palms and soles
Coxsackie A, secondary syphillis, 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 patients
Klebsiella pneumoniae
87
red "currant jelly" stools
acute mesenteric ischemia (adults), intussusception (infants)
88
red, itchy, swollen rash of nipple/areola
Paget disease of the breast (indicative of underlying neoplasm)
89
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria (PNH)
90
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation, chromosome 3p)
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
McBurnery sign (acute appendicitis)
96
short stature, increased incidence of tumors/leukemia, anaplastic 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
Karagener syndrome (dynein arm defect affecting cilia)
99
skin hyperpigmentation, hypotension, fatigue
Addision disease (primary adrenocortical insufficiency causes increased ACTH and aMSH 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 with blue-white centers
Koplik spots (measles, rubeola virus)
102
smooth, flat, painless white lesions on genitals
condyloma lata (secondary syphillis)
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 toes joint, tophi
Gout/podagra (hyperuricemia)
107
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vitamin C deficiency, can't hydroxylate proline/lysine for collagen synthesis)
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
MEN 2A (autosomal dominant ret mutation)
111
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
112
toe extension/fanning upon plantar 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 associated with HLA-B27
115
vascular birthmark (port-wine stain)
Hemangioma (benign, but assocaited with Sturge-Weber syndrome)
116
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients
117
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
118
"worst headache of my life"
subarachnoid hemorrhage
