Classic Presentations Flashcards

1
Q

abdominal pain
ascites
hepatomegaly

A

budd chiari syndrome

post hepatic venous thrombosis

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2
Q

Achilles tendon xanthoma

A

familial hypercholesterolemia

decreased LDL receptor signaling

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3
Q

Adrenal hemorrhage
hypotension
DIC

A

waterhouse-friedrichson syndrome
meningococcemia
**saw this in UWORLD

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4
Q

positive anterior ‘‘drawer sign’’

A

anterior cruciate ligament injury

**saw this in UWORLD

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5
Q

arachnodactyly (fingers are long and slender vrs palm)
lens dislocation
aortic dissection
hyperflexible joints

A
marfan syndrome
(fibrillin defect/chromosome 14)
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6
Q

athlete with polycythemia

A

secondary to EPO injection

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7
Q

back pain
fever
night sweats
weight loss

A

Pott’s disease

vertebral TB

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8
Q

bilateral hilar adenopathy

uveitis

A

sarcoidosis

noncaseating granulomas

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9
Q

blue sclera

A

osteogenesis imperfecta
(type I collagen defect)
path notes also said ehlers i think ~bk check this

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10
Q

Bluish line on gingiva

A

burton line

lead poisoning

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11
Q

Bone pain
bone enlargement
arthritis

A

paget disease of bone

increased osteoblastic and osteoclastic activity (remember phases — check this BK**)

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12
Q

bounding pulses
diastolic heart murmur
head bobbing

A

aortic regurgitaiton

remember clinical signs for bounding pulse - de quinkes, mussets, etc **fill in here

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13
Q

butterfly facial rash
raynaud phenomenon
young female

A

Systemic lupus erythematous

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14
Q
cafe au lait spots
lisch nodules (iris hamartoma)
A

neurofibromatous type I (+pheochromocytoma, optic gliomas)

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15
Q

cafe au lait spots
polyostotic fibrous dysplasia
precocious puberty
multiple endocrine abnormalities

A

McCune-Albright Syndrome
mosaic G protein signaling mutation
* new = all first aid says, is example of mosaicism for genetics

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16
Q

Calf pseudohypertrophy

A

muscular dystrophy - most commonly Duchenne

XLR deletion of dystrophin gene

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17
Q

Cherry red spots on macula

A

Tay Sachs - ganglioside accumulation
OR
Niemann Pick - sphingomyelin accumulation

(central retinal artery occlusion)

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18
Q

Chest pain on exertion

A

angina
stable - with moderate exertion
unstable - with minimal exertion
**different than we learnt at sgu

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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)
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20
Q

Child uses arms to stand up from squat

A

Gowers sign - Duchenne muscle dystrophy

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21
Q

Child with fever later develops red rash on face that spreads to body

A

'’Slapped cheeks’’

erythema infectiosum/fifth disease/parvovirus B19

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22
Q

Chorea
dementia
caudate degeneration

A

Huntington disease

AD CAG repeat expansion

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23
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A
McArdle disease
(muscle glycogen phosphorylase deficiency)
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24
Q

cold intolerance

A

hypothyroidism

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25
Q

conjugate lateral gaze palsy

horizontal diplopia

A

internuclear opthalmoplegia
(damage to MLF)
if bilateral – think Multiple Sclerosis
if unilateral – think stroke

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26
Q

continuous ‘‘machine like’’ heart murmur

A

Patent Ductus Arteriosus

close with indomethacin, open or maintain with misoprostol

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27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

myxedema

caused by hypothyroidism, grave disease - usually pretibial

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28
Q

dark purple skin/mouth nodules in pt with AIDs

A

Kaposi sarcoma

associate with HHV-8

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29
Q

deep, laboured breathing/ventilation

A

kussmaul respiration

@ diabetic ketoacidosis

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30
Q

Dermatitis
dementia
diarrhoea
BCHM flashback

A

Pellegra - niacin/vitamin B3 deficiency

remember NADH makes 3 ATP memory cue

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31
Q

dilated cardiomyopathy
oedema
alcoholism/malnutrition

A
Wet beriberi 
(thiamine/vitamin B1 deficiency)
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32
Q

dog or cat bite resulting in infection

A

pasteurella multocida

celulitis at inoculation site

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33
Q

dry eyes
dry mouth
arthritis

A
Sjogren syndrome
(autoimmune destruction of exocrine glands)
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34
Q

dysphagia (esophageal webs)
glossitis
iron deficiency anaemia

A

Plummer-Vinson syndrome

may progress to esophageal squamous cell carcinoma

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35
Q

elastic skin

hypermobility of joinrs

A

Ehlers-Danlos Syndrome

type III collagen defect

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36
Q

Enlarged, hard left supraclavicular node

A

virchow node - abdominal metastases

remember krukenberg, sister mary joseph

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37
Q

erythroderma
lymphadenopathy
hepatosplenomegaly
atypical T cells

A

mycosis fungoides/cutaneous T cell lymphoma
OR
Sezary syndrome (mycosis fungiodes + malignant T cells in blood)

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38
Q

Facial muscle spasm upon tapping

A

Chvostek sign - hypocalcemia

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39
Q

Fat
female
forty
fertile

A

cholelithiasis

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40
Q
fever
chills
headache
myalgia 
following antibiotic treatment for syphillis
A

Jarisch-Herxheimer reaction - rapid lysis of spirochetes results in toxin release
new from SGU basic sciences

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41
Q
fever
cough
conjunctivitis
coryza
diffuse rash
A

measles

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42
Q

fever
night sweats
weight loss

A

B symtpoms (staging) of lymphoma

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43
Q

fibrous plaques in soft tissue of penis

A
peyronie disease (connective tissue disorder)
**new from SGU**
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44
Q

gout
intellectual disability
self-mutilating behaviour
boy

A

lesch nyhan syndrome

HGPRT deficiency, XLR

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45
Q

green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings

copper accumulation in Wilson Disease

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46
Q

harmartomatous gi polyps

hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

inherited, benign polyposis can cause bowel obstruction; increased cancer risk - mainly gi

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47
Q

hepatosplenomegaly
osteoporosis
neurologic symptoms

A

Gaucher disease
gift wrap BCHM flash back with roho
(glucocerebrosidase deficiency)

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48
Q

hereditary nephritis
sensorineural hearing loss
cataracts

A

alport syndrome

mutation in collagen IV

49
Q

hyperphagia
hypersexuality
hyperorality - inappropriate insertion of objects into mouth….
hyperdocility - agreeably submissive and manageable

A

Kluver-Bucy Syndrome (bilateral amygdala lesion)

***flash back neuro term two and discussions wiht Tim

50
Q

Hyperreflexia
hypertonia
babinski sign present

A

UMN lesion

51
Q

hyporeflexia
hypotonia
atrophy
fasciculations

A

LMN lesion

52
Q

hypoxemia
polycythemia
hypercapnia

A

'’blue bloater’‘/chronic bronchitis

hyperPLASIA of mucous cells

53
Q

indurated, ulcerated genital lesion

non painful

A

1e syphillis/treponema pallidum

54
Q

indurated, ulcerated genital lesion

painful

A

with exudate - chancroid/haemophilus ducreyi

55
Q
infant
cleft lip/palate
microcephaly or holoprosencephaly
polydactyly
cutis aplasia - absence of a portion of skin over a given area(s)
A

Patau syndrome

Trisomy 13

56
Q

infant
failure to thrive
hepatosplenomegaly
neurodegeneration

A

Niemann Pick disease
(genetic sphingomyelinase deficiency)
**red cherry macula spot

57
Q

infant
hypoglycemia
failure to thrive
hepatomegaly

A
Cori disease (debranchign enzyme)
OR
Von Gierke Disease (glucose 6 phosphate deficiency - more severe)
58
Q
infant
microcephaly
rocker-bottom feet
clenched hands
structural heart defect
A

Edward Syndrome/Trisomy 18

remember neuro second term, roho and rebellious teen

59
Q

jaundice

palpable distended non tender gallbladder

A

Courvoisier sign - distal obstruction of the biliary tree

60
Q

large rash with bulls eye apperance

A
erythema chronicum migrans
ixodes tick bite
lyme disease
borrelia 
**remember gossip girl**
61
Q

lucid interval after traumatic brain injury

A

epidural hematoma

middle meningeal artery rupture (pterion)

62
Q

male child
recurrent infections
no mature B cells

A

Bruton Disease/X-linked agammaglobulinemia

63
Q

mucosal bleeding

prolonged bleeding time

A
Glanzmann thrombasthenia 
(defect in platelet aggregation due to lack of GpIIb/IIIa)
64
Q

muffled heart sounds
distended neck veins
hypotension

A

Beck triad of cardiac tamponade

65
Q

Multiple colon polyps
osteomas/soft tissue tumors
impacted/supernumerary teeth

A

Gardner syndrome - subtype of FAP

66
Q

myopathy/infantile hypertrophic cardiomyopathy

exercise intolerance

A

Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)

67
Q

neonate
arm paralysis
difficulty breathing

A

Erb-Duchenne palsy/superior trunk C5C6 brachial plexus injury/’‘waiters tip’’

68
Q

no lactation postpoartum
absent menstruation
cold intolerance

A

Sheehan syndrome/pituitary infarction

69
Q

nystagmus
intention tremor
scanning speech
bilateral internuclear ophthalmoplegia

A

multiple sclerosis

70
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respiration/central apnea in CHF or increased intracranial pressure

71
Q

painful blue fingers/toes

hemolytic anaemia

A

cold agglutinin disease

autoimmune hemolytic anaemia caused by mycoplasma pneumoniae, infectious mononucleosis

72
Q

painful, pale, cold fingers/toes

A

Raynaud phenomenon - vasospasm in extremities

73
Q

painful, raised red lesions on pad of fingers/toes

A

osler nodes
(infective endocarditis, immune complex deposition)
*saad in cpd**

74
Q

painless erythematous lesions on palms and soles

A
janeway lesions
(infective endocarditis, septic emboli/microabscesses)
75
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

76
Q

palpable purpura on buttocks/legs
joint pain
abdominal pain (child)
hematuria

A

Henoch-Schonlein purpura

IgA vasculitis affecting skin and kidneys

77
Q

Pancreatic tumor
Pituitary tumor
Parathyroid tumor

A

MEN I

AD

78
Q

periorbital and/or peripheral edema
proteinuria
hypoalbuminemia
hypercholesterolemia

A

Nephrotic syndrome

79
Q

Pink complexion
dyspnea
hyperventilation

A

'’pink puffer’‘/emphysema: centriacinar = smokine, panacinar = alpha1-antitrypsin deficiency

80
Q
polyuria
renal tubular acidosis type II
groeth failure
electrolyte imbalances
hypophosphatemic rickects
A
Fanconi syndrome
(proximal tubular reabsorption defect)
81
Q

pruritic, purple, polygonal planar papules and plaques

6 Ps

A

Lichen planus

82
Q

ptosis
miosis
anhydrosis

A

horner syndrome/sympathetic chain lesion

83
Q

pupil accomodates but doesnt react

so will see pupil constrict when move finger towards nose but not to light

A

Argyll Robertson pupil/neurosyphillis

lady of the night, cpd :) <3 SGU

84
Q

rapidly progressive leg weakness that ascends following GI/upper respiratory infection

A

Guillian-Barre syndrome/acute autoimmune inflammatory demyelinating polyneuropathy

85
Q

rash on palms and soles

A
coxsackie A
OR
secondary syphillis
OR
rock mountain spotted fever
86
Q

recurrent colds
unusual eczema
high serum IgE

A

Hyper-IgE syndrome/Job syndrome - neutrophil chemotaxis abnormality

87
Q

red ‘‘currant jelly’’ sputum in alcoholic or diabetic patients

A

Klebsiella pneumonia

88
Q

Red ‘‘currant jelly’’ stools

A

acute mesenteric ischemia/adults
OR
intussusception/infants
new and gross

89
Q

red, itchy, swollen rash of nipple/areola

A

paget disease of the breast

sign of underlying neoplasm

90
Q

red urine in the morning

fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

91
Q

renal cell carcinoma (bilateral)
hemangioblastomas
angiomatosis
pheochromocytoma

A

von Hippel-Lindau disease

dominant tumor suppressor gene mutation

92
Q

resting tremor
rigidity
akinesia
postural instability

A
parkinson disease
(nigrostriatal dopamien depletion)
93
Q

retinal hemorrhages with pale centres

A
roth spots
(bacterial endocarditis)
remember IVDU = staph aureus = tricuspid = UWORLD question
94
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome/congenital unconjugated hyperbilirubinema

95
Q

severe RLQ pain with palpation of LLQ

A

Rovsing sign

acute appendicitis

96
Q

severe RLQ pain with rebound tenderness

A

McBurney sign

acute appendicitis

97
Q

short stature
increased incidence of tumors/leukemia
aplastic anaemia

A

Fanconi anaemia

genetic loss of DNA crossline repair; often progresses to AML

98
Q

single palmar crease

A

Down syndrome

UWORLD q

99
Q

situs inversus
chronic sinusitis
bronchiectasis
infertility

A
Kartagener syndrome
(dynein arm defect affecting cilia)
100
Q

Skin hyperpigmentation
hypotension
fatigue

A

Addison disease (remember hyperpigmentation has to be primary/primary adrenocortical insufficiency causes increased ACTH and MSH production = tada, hoorah)

101
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy

X linked missense mutation in dystrophin/less severe than Duchenne

102
Q

small, irregular red spots on buccal/lingual mucosa with blue-white cenres

A

Koplik spots @ measles, rubeola virus

103
Q

Smooth, flat, moist, painless white lesions on genitals

A

condylomata lata/secondary syphillis

104
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

105
Q

strawberry tongue

A

scarlet fever
kawasaki disease
toxic shock syndrome

106
Q
streak ovaries
congenital heart disease
horseshoe kidney
cystic hydroma at birth
short stature
webbed neck
lymphedema
A

Turner Syndrome

45 XO

107
Q

sudden swollen/painful bit toe

tophi

A

Gout/podagra = hyperuricemia

108
Q

swollen gums
mucosal bleeding
poor wound healing
petechiae

A

scurvy/vitamin C deficeincy - cant hydrosylate proline/lysine for collagen synthesis
remember BCHM Roho debate

109
Q

swollen, hard, painful fingertips

A

osteosarthritis

opstophyes on PIP - Bouchard – remember CPD Blood Pressure + osteophytes on DIP - Heberden nodes

110
Q

systolic ejection murmur/crescendo-decrescendo

A

aortic valve stenosis

111
Q

thyroid tumour
parathyroid tumour
pheochromocytoma

A

MEN 2A
AD
ret mutation

112
Q

thyroid tumor
pheochromocytoma
ganglioneuromatosis

A

MEN 2B
AD
ret mutation

113
Q

toe extension/fanning upon plantar scrape

A

babinski sign

UMN lesion

114
Q

unilateral facial drooping involving forehead

A

facial nerve

LMN CN VII palsy

115
Q

urethritis
conjunctivitis
arthritis
male

A

reactive arthritis associated with HLA-B27

**remember janish/alvin: can’t pee, can’t see, can’t climb a tree @ ICM

116
Q

vascular birthmark (port wine stain)

A

hemangioma

bening, but associated with struge-weber syndrome

117
Q

vomiting blood following gastroesophageal lacerations

A

mallory-weiss syndrome

@ alcoholic and bulimic paitnets

118
Q
weight loss
diarrhoea
arthritis
fever
adenopathy
A

whipple disease
tropheryma whipplei
*remember super pink picture, looks liek art ;) *

119
Q

'’worst headache of my life’’

A

subarachnoid hemorrhage