classic presentations Flashcards
(116 cards)
1
Q
abdominal pain, ascites hepatosplenomegaly
A
budd-chiari
2
Q
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
clostridium dificile
3
Q
achilles tendon xanthoma
A
familial hypercholesterolemia
4
Q
adrenal hemmorrhage, hypotension DIC
A
waterhouse-friderichsen syndrome (meningococcemia)
5
Q
anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
marfan syndrome
7
Q
back pain, fever, night sweats
A
vertebral TB (Potts)
8
Q
bilateral acoustic schawnomas,
A
NF2, chrom 22
9
Q
black eschar on face of patient with DKA
A
mucor or rhizopus fungal infection
10
Q
blue sclera
A
osteogenesis imperfecta (type I collagen defect)
11
Q
bluish line on gingiva
A
lead poisioning, (burton line)
12
Q
bone pain, bone enlargement, arthritis
A
paget disease of bone (increase osteoclastic first then osteoblastic activity)
13
Q
bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
14
Q
butterfly facial rash, raynaud’s in young women
A
SLE
15
Q
cafe-au-lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
NF1 chrom 17
16
Q
Cafe au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endorine abnormalities
A
Mccune-albright syndrome (mosaic G-protein signaling mutation)
17
Q
calf pseudohypertrophy
A
muscular dystrophy (most common=Duchenne, due to X-linked, recessive frameshift mutation of dystrophin
18
Q
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctive and tongue, hand/foot changes
A
Kawasaki (txt with IVIG and aspirin)
19
Q
Cherry red spots on macula
A
Tay- Sachs: ganglioside accumulation
Niemann Pick: sphingomyelin accumulation
central retinal artery occlusion
20
Q
chest pain on exertion
A
angina
21
Q
chest pain, pericardial effusion/friction rub, persistent fever following MI
A
dressler syndrome: autoimmune mediated post-MI fibrinous pericarditis, 2 weeks to several months post MI
22
Q
child uses arm to stand up from squat
A
duchenne muscular dystropher (gower sign)
23
Q
child with fever later develops red rash on face that spreads to body
A
Parvovirus B19, (erythema infectiosum)
24
Q
chorea, dementia, caudate degradation
A
Huntington disea
AD, CAG repeat
25
chorioretinitis, hypocephalus, intracranial calcification
congenital toxoplasmosis
26
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
27
cold intolerance
hypothyroidism
28
conjugate horizontal gaze palsy, horizontal diplopia
internuclear ophthalmolplegia (damage to MLF)
29
cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right sided cardiac valvular lesions, increase 5-HiAA)
30
dark purple skin/mouth nodules in pateint with AIDS
Kaposi Sarcoma, HHV-8
31
deep labored breathing/hyperventilation
DKA, (kussmal respirations)
32
dermatitis, dementia, diarrhea,
niacin, vitamin B3 deficiency
33
dilated cardiomyopathy, edema, alcoholism, malnutrition
wet beriberi (thiamine, (B1) deficiency)
34
dog or cat bite resulting in infection
pastuerella multocida
35
dry eyes, dry mouth arthritis
Sjogren syndrome, autoimmune destruction of exocrine glands
36
dysphagia, glossitis, iron deficiency anemia
plummer-vinson syndrome (may progress to SCC or esophagus)
37
enlarged hard left supraclavicular node
virchow node (abdominal metastasis)
38
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome: mycosis fungoides+ malignant T cells in the blood
39
facial muscles spasm upon tapping
Chvostek sign in hypocalcemia
40
fat, female, forty and fertile
cholelithiasis
41
fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
42
fever, cough, conjunctivitis, coryza, diffuse rash
measles
43
golden brown rings in peripheral cornea
wilson disease (kayser-fleischer rings due to copper accumulation)
44
gout, intellectual disability, self mutilating behavior in a boy
lesch-nyhan (HGPRT deficiency), X-linked recessive
45
hamartomatous GI polyps, hyperpigmentaiton of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis, can cause bowel obstruction; increase cancer risk, mainly GI)
46
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
gaucher disease (glucocerebrosidase deficiency)
47
hereditary nephritis, sensorinerual hearing loss
alport syndrome (collage IV mutation)
48
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy; bilateral amygdala lesion
49
hyperreflexia, hypertonia, Babinski sign
UMN
50
hyporeflexia, hypotonia, atrophy, fasiculations
LMN
51
hypoxemia, polycythemia, hypercapnia
chronic bronchitis
52
indurated, ulcerated genital lesion
non painful: primary syphilis
| painful, with exudate: chancroid
53
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
trisomy 13 (Patau)
54
infant with hypoglycemia, hepatomegaly
core disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)
55
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
trisomy 18 (edwards)
56
jaundice palpable distended, non tender gallbladder
courvoisier sign: distal malignant obstruction of biliary tree
57
large rash with bull's eye appearance
erythema chronicum migrans from ixodes tick: Borrelia
58
lucid interval after traumatic brain injury
epidural hematoma
59
male child recurrent infections, no mature B cells
X-linked agammaglobulinemia (bruton disease)
60
mucosal bleeding and prolonged bleeding time
glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa
61
muffled heart sounds, distended neck veins, hypotensison
beck triad of cardiac tamponade
62
multiple colon polyps, osteomas/soft tissue tumors, impacted supernummerary teeth
gardner syndrome (subtype of FAP)
63
myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance
pompe disease (lysosomal a-1,4 glucosidase deficiency
64
neonate with arm paralysis following birth
erb-duchenne palsy (C5-C6)
65
no lactation postpartum, absent menstruation, cold intolerance
sheehan syndrome: pituitary infarction
66
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
67
painful blue fingers/toes, hemolytic anemia
cold agglutitnin disease ( autoimmune, hemolytic anemia cuased by mycoplasma pneumoniae, infectious mononucleosis, CLL)
68
painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
69
painful, raised red lesions on pads or fingers/toes
osler nodes (infective endocarditis, IC depostition)
70
painless erythematous lesions on palms and soles
janeway lesions (infective endocarditis, septic emboli/microabsecesses)
71
painless jaundice
cancer fo the pancreatic head obstruction bile duct
72
palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria
HSP (IgA vasculitis affectin skin and kidneys)
73
pancreatic, pituitary, parathyroid tumors
MEN 1
74
periorbital and peripheral edema, protenuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
75
pink complexion, dyspnea, hyperventilation
emphysema
76
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophophastemic rickets
fanconi syndrome (multiple compbined dysfunction of PCT)
77
pruritic, purple, polygonal planar papules
Lichen planus
78
ptosis, miosis, anhidrosis
horner syndrome
79
pupil accommodates but doesn't react
neurosyphilis (argyll robertson pupil)
80
rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barre (acute inflammatory demyelinating polyradiculopathy subtype)
81
rash on palms and soles
Coxackie A, secondary syphilis, Rocky mountain spotted fever
82
recurrent cold abscesses, unusual eczema, high serum IgE
hyper-IgE, neutrophil chemotaxis abnormality
83
red currant jelly sputum in alcoholic or diabetic patients
Kelbsiella pneumonia
84
red currant jelly stools
acute mesenteric ischemia, intussusception
85
red, itchy, swollen rash of nipple/areola
paget disease of the breast (sign of underlying neoplasm)
86
red urine in the morning, fragile RBCS
paroxysmal nocturnal hemoglobinuria
87
RCC, hemangioblastomas, angiomatosis, pheochromocytoma
Von-hippel-lindau disease (dominant tumor suppressor gene mutation)
88
resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
89
retinal hemorrhage with pale centers
Roth spots (bacterial endocarditis)
90
sever jaundice in neonate
crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)
91
severe RLQ pain with palpation of LLQ
rovsing sign (acute appendicitis)
92
sever RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
93
short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
94
single palmar crease
down syndrome
95
situs inversus, chronic sinusitis, bronchiectasis
kartagener syndrome (dyenin arm defect affecting cilia)
96
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency causes increased ACTH and increased MSH
97
slwo progressive muscle weakness in boys
Becker muscle dystrophy (x-linked missense mutation in dystrophin, less sever than duchenne)
98
small, irregular red spots on buccal/lingual mucosa with blue-white centers
koplik spots (measles (rubeola) virus)
99
smotth moist painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
100
splinter hemorrhages in fingernails
bacterial endocarditis
101
strawberry tongue
scarlet fever, Kawasaki disease
102
streak ovaries, congenital heart disease, horshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
turner syndrome
103
sudden swollen/painful big toe joint tophi
gout/podagra (hyperuricemia)
104
swollen gums, mucosal bleeding, poor wound healing
scurvy, vit C definciency, can't hydroxylate prolin/lysine for collagen synthesis
105
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP, DIP)
106
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
107
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
osler-weber-rendu syndrome
108
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
109
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B
110
toe extension/fanning upon plantar scrape
Babinski sign (UMN)
111
unilateral facial drooping involving forehead
LMN facial nerve (CNVII) palsy; UMN lesions spare the forehead
112
urethritis, conjuncitivitis, arthritis in male
reactive arthritis associated with HLA-B27
113
vascular birthmark (port-wine stain) of the face
nevus flammeus (benign, but associated with Sturge-weber)
114
vomiting blood follwing gastroesophageal lacerations
mallory-weiss syndrome (alcoholic and bulimic patients)
115
weight loss, diarrhea, arthritis, fever, adenopathy
whipple disease (tropheryma whipplei)
116
worst headache of my life
subarachnoid hemorrhage
