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
conjugate lateral gaze palsy | horizontal diplopia
internuclear opthalmoplegia (damage to MLF) if bilateral -- think Multiple Sclerosis if unilateral -- think stroke
26
continuous ''machine like'' heart murmur
Patent Ductus Arteriosus | close with indomethacin, open or maintain with misoprostol
27
Cutaneous/dermal edema due to connective tissue deposition
myxedema | caused by hypothyroidism, grave disease - usually pretibial
28
dark purple skin/mouth nodules in pt with AIDs
Kaposi sarcoma | associate with HHV-8
29
deep, laboured breathing/ventilation
kussmaul respiration | @ diabetic ketoacidosis
30
Dermatitis dementia diarrhoea **BCHM flashback**
Pellegra - niacin/vitamin B3 deficiency | **remember NADH makes 3 ATP memory cue**
31
dilated cardiomyopathy oedema alcoholism/malnutrition
``` Wet beriberi (thiamine/vitamin B1 deficiency) ```
32
dog or cat bite resulting in infection
pasteurella multocida | celulitis at inoculation site
33
dry eyes dry mouth arthritis
``` Sjogren syndrome (autoimmune destruction of exocrine glands) ```
34
dysphagia (esophageal webs) glossitis iron deficiency anaemia
Plummer-Vinson syndrome | may progress to esophageal squamous cell carcinoma
35
elastic skin | hypermobility of joinrs
Ehlers-Danlos Syndrome | type III collagen defect
36
Enlarged, hard left supraclavicular node
virchow node - abdominal metastases | **remember krukenberg, sister mary joseph**
37
erythroderma lymphadenopathy hepatosplenomegaly atypical T cells
mycosis fungoides/cutaneous T cell lymphoma OR Sezary syndrome (mycosis fungiodes + malignant T cells in blood)
38
Facial muscle spasm upon tapping
Chvostek sign - hypocalcemia
39
Fat female forty fertile
cholelithiasis
40
``` fever chills headache myalgia following antibiotic treatment for syphillis ```
Jarisch-Herxheimer reaction - rapid lysis of spirochetes results in toxin release ***new from SGU basic sciences***
41
``` fever cough conjunctivitis coryza diffuse rash ```
measles
42
fever night sweats weight loss
B symtpoms (staging) of lymphoma
43
fibrous plaques in soft tissue of penis
``` peyronie disease (connective tissue disorder) **new from SGU** ```
44
gout intellectual disability self-mutilating behaviour boy
lesch nyhan syndrome | HGPRT deficiency, XLR
45
green-yellow rings around peripheral cornea
Kayser-Fleischer rings | copper accumulation in Wilson Disease
46
harmartomatous 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 **gift wrap BCHM flash back with roho** (glucocerebrosidase deficiency)
48
hereditary nephritis sensorineural hearing loss cataracts
alport syndrome | mutation in collagen IV
49
hyperphagia hypersexuality hyperorality - inappropriate insertion of objects into mouth.... hyperdocility - agreeably submissive and manageable
Kluver-Bucy Syndrome (bilateral amygdala lesion) | ***flash back neuro term two and discussions wiht Tim
50
Hyperreflexia hypertonia babinski sign present
UMN lesion
51
hyporeflexia hypotonia atrophy fasciculations
LMN lesion
52
hypoxemia polycythemia hypercapnia
''blue bloater''/chronic bronchitis | hyperPLASIA of mucous cells
53
indurated, ulcerated genital lesion | non painful
1e syphillis/treponema pallidum
54
indurated, ulcerated genital lesion | painful
with exudate - chancroid/haemophilus ducreyi
55
``` infant cleft lip/palate microcephaly or holoprosencephaly polydactyly cutis aplasia - absence of a portion of skin over a given area(s) ```
Patau syndrome | Trisomy 13
56
infant failure to thrive hepatosplenomegaly neurodegeneration
Niemann Pick disease (genetic sphingomyelinase deficiency) **red cherry macula spot
57
infant hypoglycemia failure to thrive hepatomegaly
``` Cori disease (debranchign enzyme) OR Von Gierke Disease (glucose 6 phosphate deficiency - more severe) ```
58
``` infant microcephaly rocker-bottom feet clenched hands structural heart defect ```
Edward Syndrome/Trisomy 18 | **remember neuro second term, roho and rebellious teen**
59
jaundice | palpable distended non tender gallbladder
Courvoisier sign - distal obstruction of the biliary tree
60
large rash with bulls eye apperance
``` erythema chronicum migrans ixodes tick bite lyme disease borrelia **remember gossip girl** ```
61
lucid interval after traumatic brain injury
epidural hematoma | middle meningeal artery rupture (pterion)
62
male child recurrent infections no mature B cells
Bruton Disease/X-linked agammaglobulinemia
63
mucosal bleeding | prolonged bleeding time
``` Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) ```
64
muffled heart sounds distended neck veins hypotension
Beck triad of cardiac tamponade
65
Multiple colon polyps osteomas/soft tissue tumors impacted/supernumerary teeth
Gardner syndrome - subtype of FAP
66
myopathy/infantile hypertrophic cardiomyopathy | exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
67
neonate arm paralysis difficulty breathing
Erb-Duchenne palsy/superior trunk C5C6 brachial plexus injury/''waiters tip''
68
no lactation postpoartum absent menstruation cold intolerance
Sheehan syndrome/pituitary infarction
69
nystagmus intention tremor scanning speech bilateral internuclear ophthalmoplegia
multiple sclerosis
70
oscillating slow/fast breathing
Cheyne-Stokes respiration/central apnea in CHF or increased intracranial pressure
71
painful blue fingers/toes | hemolytic anaemia
cold agglutinin disease | autoimmune hemolytic anaemia caused by mycoplasma pneumoniae, infectious mononucleosis
72
painful, pale, cold fingers/toes
Raynaud phenomenon - vasospasm in extremities
73
painful, raised red lesions on pad of fingers/toes
osler nodes (infective endocarditis, immune complex deposition) *saad in cpd**
74
painless erythematous lesions on palms and soles
``` janeway lesions (infective endocarditis, septic emboli/microabscesses) ```
75
painless jaundice
cancer of the pancreatic head obstructing bile duct
76
palpable purpura on buttocks/legs joint pain abdominal pain (child) hematuria
Henoch-Schonlein purpura | IgA vasculitis affecting skin and kidneys
77
Pancreatic tumor Pituitary tumor Parathyroid tumor
MEN I | AD
78
periorbital and/or peripheral edema proteinuria hypoalbuminemia hypercholesterolemia
Nephrotic syndrome
79
Pink complexion dyspnea hyperventilation
''pink puffer''/emphysema: centriacinar = smokine, panacinar = alpha1-antitrypsin deficiency
80
``` polyuria renal tubular acidosis type II groeth failure electrolyte imbalances hypophosphatemic rickects ```
``` Fanconi syndrome (proximal tubular reabsorption defect) ```
81
pruritic, purple, polygonal planar papules and plaques | 6 Ps
Lichen planus
82
ptosis miosis anhydrosis
horner syndrome/sympathetic chain lesion
83
pupil accomodates but doesnt react | so will see pupil constrict when move finger towards nose but not to light
Argyll Robertson pupil/neurosyphillis | **lady of the night, cpd :) <3 SGU**
84
rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillian-Barre syndrome/acute autoimmune inflammatory demyelinating polyneuropathy
85
rash on palms and soles
``` coxsackie A OR secondary syphillis OR rock mountain spotted fever ```
86
recurrent colds unusual eczema high serum IgE
Hyper-IgE syndrome/Job syndrome - neutrophil chemotaxis abnormality
87
red ''currant jelly'' sputum in alcoholic or diabetic patients
Klebsiella pneumonia
88
Red ''currant jelly'' stools
acute mesenteric ischemia/adults OR intussusception/infants **new and gross**
89
red, itchy, swollen rash of nipple/areola
paget disease of the breast | sign of underlying neoplasm
90
red urine in the morning | fragile RBCs
paroxysmal nocturnal hemoglobinuria
91
renal cell carcinoma (bilateral) hemangioblastomas angiomatosis pheochromocytoma
von Hippel-Lindau disease | dominant tumor suppressor gene mutation
92
resting tremor rigidity akinesia postural instability
``` parkinson disease (nigrostriatal dopamien depletion) ```
93
retinal hemorrhages with pale centres
``` roth spots (bacterial endocarditis) remember IVDU = staph aureus = tricuspid = UWORLD question ```
94
severe jaundice in neonate
Crigler-Najjar syndrome/congenital unconjugated hyperbilirubinema
95
severe RLQ pain with palpation of LLQ
Rovsing sign | acute appendicitis
96
severe RLQ pain with rebound tenderness
McBurney sign | acute appendicitis
97
short stature increased incidence of tumors/leukemia aplastic anaemia
Fanconi anaemia | genetic loss of DNA crossline repair; often progresses to AML
98
single palmar crease
Down syndrome | UWORLD q
99
situs inversus chronic sinusitis bronchiectasis infertility
``` Kartagener syndrome (dynein arm defect affecting cilia) ```
100
Skin hyperpigmentation hypotension fatigue
Addison disease (remember hyperpigmentation has to be primary/primary adrenocortical insufficiency causes increased ACTH and MSH production = tada, hoorah)
101
Slow, progressive muscle weakness in boys
Becker muscular dystrophy | X linked missense mutation in dystrophin/less severe than Duchenne
102
small, irregular red spots on buccal/lingual mucosa with blue-white cenres
Koplik spots @ measles, rubeola virus
103
Smooth, flat, moist, painless white lesions on genitals
condylomata lata/secondary syphillis
104
splinter hemorrhages in fingernails
bacterial endocarditis
105
strawberry tongue
scarlet fever kawasaki disease toxic shock syndrome
106
``` streak ovaries congenital heart disease horseshoe kidney cystic hydroma at birth short stature webbed neck lymphedema ```
Turner Syndrome | 45 XO
107
sudden swollen/painful bit toe | tophi
Gout/podagra = hyperuricemia
108
swollen gums mucosal bleeding poor wound healing petechiae
scurvy/vitamin C deficeincy - cant hydrosylate proline/lysine for collagen synthesis **remember BCHM Roho debate**
109
swollen, hard, painful fingertips
osteosarthritis | opstophyes on PIP - Bouchard -- remember CPD Blood Pressure + osteophytes on DIP - Heberden nodes
110
systolic ejection murmur/crescendo-decrescendo
aortic valve stenosis
111
thyroid tumour parathyroid tumour pheochromocytoma
MEN 2A AD ret mutation
112
thyroid tumor pheochromocytoma ganglioneuromatosis
MEN 2B AD ret mutation
113
toe extension/fanning upon plantar scrape
babinski sign | UMN lesion
114
unilateral facial drooping involving forehead
facial nerve | LMN CN VII palsy
115
urethritis conjunctivitis arthritis male
reactive arthritis associated with HLA-B27 | **remember janish/alvin: can't pee, can't see, can't climb a tree @ ICM
116
vascular birthmark (port wine stain)
hemangioma | bening, but associated with struge-weber syndrome
117
vomiting blood following gastroesophageal lacerations
mallory-weiss syndrome | @ alcoholic and bulimic paitnets
118
``` weight loss diarrhoea arthritis fever adenopathy ```
whipple disease tropheryma whipplei *remember super pink picture, looks liek art ;) *
119
''worst headache of my life''
subarachnoid hemorrhage