Classic Presentations Flashcards
(127 cards)
1
Q
abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (post-hepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium difficile infection
3
Q
Achiles 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 +
A
anterior cruciate ligament injury
7
Q
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
athlete with polycythemia
A
secondary to Epo. injection
9
Q
back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
bilateral acoustic schwannomas
A
NF2
11
Q
bilateral hilar adenopathy, uveitis
A
sarcoidosis (non-caseating granulomas)
12
Q
black eschar on face of patient with diabetic ketoacidosis
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 (increase osteoblast and osteoclast 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
NF1, pheochromocytoma, optic gliomas
19
Q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
20
Q
calf pseudohyperftrophy
A
muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene
21
Q
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae, red tongue
A
Kawasaki disease (treat with IVIG and aspirin)
22
Q
“cherry red spots” on macula
A
Tay-Sachs disease ( ganglioside accumulation)
or
Niemann-Pick disease (sphingomyelin accumulation)
or
central retina occlusion
23
Q
chest pain on exertion
A
Angina:
- at rest or with minimal exertion–>unstable
- with moderate exertion–>stable
24
Q
chest pain, pericardial effusion/friction rub, and persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
25
chest pain with ST depressions on EKG
unstable angina= troponins negative
| NSTEMI= troponins positive
26
child uses arms to stand up from squat
Gowers sign (DMD)
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's disease (autosomal dominant CAG repeat expansion)
29
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
30
chronic exercise intolerance with myalgia, fatigues, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen myoPhosphorylase deficiency)
31
cold intolerance
hypothyroidism
32
conjugate horizontal gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
33
continuous "machine-like" heart murmur
PDA (close with indomethacin; maintain or open with PGE analogs)
34
cutaneous dermal edema due to CT deposition
myxedema = hypothyroidism/Hashimotos's thyroiditis
or
pretibial myxedema = hyperthyroidism/Grave's disease
35
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome (right-sided cardiac valvular lesions; increased 5-HIAA)
36
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma; associated with HHV-8
37
deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
38
dermatitis, dementia, diarrhea
pellagra (niacin/vitamin B3 deficiency)
39
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamine/vitamin B1 deficiency)
40
dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
41
dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
42
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
43
elastic skin, hypermobility of joints, increase bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect; type III collagen defect seen in vascular subtype
44
enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
episodic vertigo, tinnitus, hearing loss
Meniere disease
46
erythroderma, lymphadenopathy, hepatosmplenomegaly, atypical Tcells
Mycosis fungoides = cutaneous T-cell lymphoma
or
Sezary syndrome = mycosis fungoides + malignant Tcells in blood
47
facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
48
Fat, female, forty, and fertile
cholelithiasis (gallstones)
49
fever, chills headache, myalgia following antibiotic treatment for syphylis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endothoxin release)
50
fever, cough, conjunctivitis, coryza, diffuse rash
measles
51
fever, night sweats, weight loss
B symptoms (staging) of lymphoma
52
fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (CT disorder)
53
golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
54
gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency; X-linked recessive)
55
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis; can cause bowel obstruction; increase cancer risk mainly in GI)
56
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, crumpled skin histiocytes on BMB
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in Collagen IV)
58
hyperphagia, hypersexuality, hypweorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN dmage
61
hypoxemia, polycythemia, hypercapnea
"bleu bloater": chronic bronchitis; hyperplasia of mucous cells
62
indurated, ulcerated genital lesion
Nonpainful: chancre; primary syphylis; Treponema pallidum
Painful:, with exudate: chancroid (haemophilus ducreyi)
63
infant with "cherry-red" spot on macula, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic shingomyelinase 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 (G6P deficiency; more severe)
```
66
jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
67
large rash with bull's-eye appearance
erythema chronicum migrans from Ixodes tick bite
68
Lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
69
male child, recurrent infections, no mature Bcells
Bruton disease (X-linked agammaglubulinemia)
70
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/GpIIIa
71
muffled heart sounds, distended neck veins, hypotension
Beck triad for 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 disease (lysosomal alpha-1,4-flucosidase deficiency)
74
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy ( superior trunk [C5-C6]) brachial plexus injury; "waiter's tip"
75
no lactation post-partum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
76
nystagmus, intention tremor, scanning speech, bilateral INO
MS
77
painful blue fingers/toes, hemolytic anemia
cold agglutin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
painful fingers/toes changing color from blue to white to red with 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
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
81
painless erythematous lesions on palms and soles
Janeway lesion (infective endocarditis; septic emboli/microabscesses)
82
painless jaundice
cancer of the pancreatic duct obstruction bile duct
83
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys
84
pancreatic, pituitary, parathyroid tumors
MEN1 (AD)
85
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
86
pink complexion, dyspnea, hyperventilation
"pink puffer": emphysema
* centriacinar ( smoking)
* panacinar (alpha 1-antitrypsin deficiency)
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 plaques (6 Ps)
Lichen planus
89
ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
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 demyelenating polyradiculopathy subtype)
92
rash on palm and soles
Coxsakie A, secondary syphilis, Rocky Mountain spotted fever
93
recurrent cold (non-inflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
94
red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumonias pneumonia
95
red "currant jelly" stool
acute mesenteric ischemia (adults)
| intususcepstion (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 red blood cells
paroxysmal nocturnal hemoglobinuria
98
renal cell carcinoman (bilateral), heamngioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor supressor gene mutation)
99
resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson's disease (loss of dopaminergic neurons in substantia nigra pars compacta)
100
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
101
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
102
severe RLQ pain with palpation or LLQ
Rovsing sign (acute appendicitis)
103
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
104
short stature, cafe-au-lait spots, thumb/radial defects, aplastic anemia, increase incidence of tumors/leukemia
Fanconi anemia (genetic loss of DNA cross-link repair; often progresses to AML
105
single palmar crease
down syndrome
106
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
107
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (Addison's disease) causes increased ACTH and increase alpha-MH production)
108
slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophyn; less severe than Duchenne)
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 syphilus)
111
splinter hemorrhages in fingernails
bacterial endocarditis
112
"strawberry tongue"
scarlet fever
or
Kawaski 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, easy bruising
scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
116
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Herberden nodes])
117
systolic ejection murmur (cresecendo-decrescendo)
aortic stenosis
118
telengiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu-syndrome
119
thyroid and parathyroid tumors, pheocromocytoma
MEN2A (AD, RET mutation)
120
thyroid and parathyroid tumors, pheocromocytoma, ganglioneuromatosis
MEN2B (AD, RET mutation)
121
toe extension/fanning upon plantar scrape
positive Babinski sign (UMN lesion)
122
unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
123
urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
124
Vascular birthmark (port-wine stain) of the face
nevus flammeus (benign, but associated with Stude-Weber syndrome)
125
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
126
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease 9tropheryma Whipplei)
127
"worst headache of my life"
sub-arachnoid hemorrhage
