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Step 1 Andre > FA Rapid Review: Classic Presentations > Flashcards

FA Rapid Review: 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 (2/2 decreased LDL receptor signaling)

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3
Q

Adrenal hemorrhage
HoTN
DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Anterior drawer sign

A

ACL injury

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5
Q

Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints

A

Marfan syndrome (2/2 Fibrillin defect)

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6
Q

Athlete with polycythemia

A

He’s injecting EPO

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7
Q

Back pain
Fever
Night Sweats
Wt loss

A 
Pott disease (vertebral TB)
- Wt loss is key
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8
Q

B/L hilar LAD

Uveitis

A

Sarcoidosis (noncaseating granulomas)

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9
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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10
Q

Bluish line on gingiva

A

Burton line 2/2 lead poisoning

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11
Q

Bone pain
Bone enlargement
Arthritis

A

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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12
Q

Bounding pulses
Diastolic murmur
Head bobbing

A

AVR

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13
Q

“butterfly” facial rash
Raynaud
young female

A

SLE

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14
Q 
Cafe-au-lait spots
Lisch nodules (iris hamartomas)
A

NF1 (also has pheo and optic gliomas)

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15
Q

Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine problems

A

McCune Albright syndrome (mosaic G-protein signaling mutation)

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16
Q

Calf pseudohypertrophy

A

DMD (x-linked recessive deletion of dystrophin)

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17
Q

Cherry-red spots on macula

A

Tay Sachs (ganglioside accumulation)
or
Niemann-Pick (sphingomyelin accumulation)

2/2 central retinal artery occlusion

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18
Q

Chest pain on exertion

A

Angina

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19
Q

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI (2weeks to months)

A

Dressler syndrome

- autoimmune induced fibrinous pericarditis

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20
Q

Child uses arms to stand up from squat

A

Gowers sign from DMD

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21
Q

Child w/fever later develops red rash on face –> body

A

Slapped cheeks (erythema infectiosum/fifth disease) 2/2 parvovirus B19

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22
Q

Chorea
Dementia
Caudate degeneration

A

HD (AD CAG repeats)

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23
Q

Chronic exercise intolerance w/:

  • Myalgia
  • Fatigue
  • Painful cramps
  • Myoglobulinemia
A

McArdle disease

- muscle glycogen phosphoryalse deficiency

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24
Q

Cold intolerance

A

Hypothyroidism

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25
Q

Conjugate lateral gaze palsy

Horizontal diplopia

A

INO 2/2 MLF damage

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26
Q

Continuous “Machine-like” murmur

A

PDA

  • close with indomethacin
  • keep open with PGE (misoprostol)
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27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema from hypothyroidism (Graves disease) esp at pretibial region

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28
Q

Dark purple skin/mouth modules in pt with AIDS

A

Kaposi sarcoma a/w HHV-8

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29
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations 2/2 DKA

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30
Q

Dermatitis
Dementia
Diarrhea

A

Niacin B3 def (Pellagra)

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31
Q

Dilated CM
Edema
Alcoholism
Malnutrition

A

Wet beriberi (B1 def)

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32
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis 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

Elastic skin

Hypermobile joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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35
Q

Dysphagia (esophageal webs)
Glossitis
Fe def anemia

A

Plummer-vinson syndrome (can progress to esophageal squamous cell carcinoma)

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36
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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37
Q

Erythroderma
LAD
Hepatosplenomegaly
Atypical T cells

A 
Mycosis fungoides (cutaneous T-cell lymphoma) 
or
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
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38
Q

Facial muscle spasm upon tapping

A

Hypocalcemia

Chvostek sign

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39
Q

Fat
Female
Forty
Fertile

A

Cholelithiasis (gallstones)

- can lead to pancreatitis

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40
Q

f/c, h/a, myalgia following antibiotic Tx for syphilis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes resulting in toxin release)

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41
Q 
Fever
cough
Conjunctivitis
Coryza
Diffuse rash
A

Measles

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42
Q

Fever
Night sweats
Wt Loss

A

B symptoms (staging) of lymphoma

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43
Q

Fibrinous plaques in soft tissue of penis

A

Peyronie disease (connective tissue d/o)

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44
Q

Gout
Intellectual disability
Self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome
HCPRT deficiency
X-linked recessive

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45
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings of Wilson

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46
Q

Hamartomatous GI polyps

Hyperpigmentation of mouth, feet, hands

A

Peutz-Jeghers syndrome

  • inherited
  • benign polyposis that can cause obstruction
  • incrased cancer risk, mainly GI
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47
Q

Hepatosplenomegaly
Osteoporosis
Neurologic sxs

A 
Gaucher disease (HSM, bone, brain)
- glucocerebrosidase def
48
Q

Hereditary nephritis
Sensorineural hearing loss
Cataracts

A

Alport syndrome

- mut collagen IV

49
Q

Hyperphagia
Hypersexual
Hyperoral
Hyperdocile

A

Kluver Bucy

- b/l amygdala lesion

50
Q

Hyperreflexia
Hypertonia
Babinksi

A

UMN damage

51
Q

Hyporeflexia
Hypotonia
atrophy
fasciculations

A

LMN damage

52
Q

Hypoxemia
Polycythemia
Hypercapnia

A

Chronic bronchitis: hyperplasia of mucus cells

53
Q

Indurated

Ulcerated genital lesion

A

Nonpainful = chancre of syphilis

Painful w/exudate= chancroid of haemophilus ducreyi

54
Q 
Infant:
cleft
microcephaly or holoprosencephaly
polydatyly
cutis aplasia
A

Patau syndrome (trisomy 13)

55
Q

Infant:
FTT
HSM
Neurodegeneration

A

Niemann-Pick disease

- genetic sphingomyelinase deficiency

56
Q

Infant:
FTT
HSM
Hypoglycemia

A 
Cori disease
- debranching enzyme def
OR
Von Gierke disease
- glucose-6-phosphatase def (more severe)
57
Q 
Infant:
microcephaly
rocker-bottom feet
clenched hands
structural heart defect
A

Edwards syndrome (trisomy 18)

58
Q

Jaundice

Palpable distended non-tender gallbladder

A

Courvoisier sign

- distal obstruction of biliary tree

59
Q

Large rash w/bull’s eye apperance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme disease Borrelia)

60
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma

61
Q

Male child w/recurrent infections and no mature B cells

A

Bruton disease

- X-linked agammaglobulinemia

62
Q

Mucosal bleeding

Prolonged bleeding time

A

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

63
Q

Multiple colon polyps
Osteomas/Soft tissue tumors
Impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic CM)

Exercise intolerance

A

Pompe disease

- lysosomal alpha-1,4-glucosidase deficiency

65
Q

Neonate:

Arm paralysis after birth

A

Erb-Duchenne palsy - Waiter’s tip

C5-C6 brachial plexus injury

66
Q

No lactation postpartum
Absent Menstruation
Cold intolerance

A

Sheehan syndrome (pituiary infarction)

67
Q

Nystagmus
Intention Tremor
Scanning speech
bilateral INO

68
Q

Oscillating slow/fast breathing

A

Cheyne-Strokes respiration

2/2 central apnea in CHF OR increased ICP

69
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia)

- 2/2 mycoplasma pneumoniae, infectious mono

70
Q

Painful
Pale
Cold fingers/toes

A

Raynaud phenomenon (vasospasm of extremities)

71
Q

Painful, raised red lesion on pad of fingers/toes

A 
Osler nodes (infective endocarditis)
- IC deposits
72
Q

Painless erythematous lesions on feet and hands

A 
Janeway lesions (infective endocarditis)
- septic emboli and microabscesses
73
Q

Painless jaundice

A

Cancer of pancreatic head obstructing the bile duct

74
Q

Palpable purpura on butt/legs
Joint pain
Abd pain
Hematuria

A

Henoch-Schonlein purpura

- IgA vasculitis

75
Q

Pancreas
Parathyroid
Pituitary tumors

A

MEN-1

  • autosomal dominant
  • MEN have 1 P-nis
76
Q

Periorbital/peripheral edema
Proteinuria
Hypoalbuminemia
Hypercholesterolemia

A

Nephrotic syndrome

77
Q

Pink Complexion
Dyspnea
Hyperventilation

A

Emphysema

  • if central acinar = smoking
  • if pan acinar = antitrypsin def
78
Q 
Polyuria
RTA type II
Growth Failure
Electrolyte imbalance
Hyphosphatemic rickets
A

Fanconi syndrome

- proximal tubule reabsorption defect

79
Q

Pruritic, purple, polygonal planar papules and plaques (6P’s)

A

Lichen planus

80
Q

Ptosis
Miosis
Anhydriasis

A

Horner syndrome

81
Q

Pupil accomidates but doesn’t react

A

Argyll Robertson pupil of syphilis

82
Q

Rapidly progressive leg weakness that ascends following GI/respiratory infection

A

GBS (acute autoimmune inflammatory demyelinating polyneuroapthy)

83
Q

Rash on palms and soles

A

Coxsackie A
Secondary Syphilis
Rocky Mountain Spotted fever

84
Q

Recurrent colds
Unusual eczema
High Serum IgE

A

Hyper-IgE syndrome = Job Syndrome

- neutrophil chemotaxis abnormality

85
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

86
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of breast

- sign of underlying neoplasm

87
Q

Red urine in morning

Fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

88
Q

Renal cell carcinoma (b/l)
Hemangioblastomas
Angiomatosis
Pheochomocytoma

A

VHL

- TSG mutation

89
Q 
Resting tremor
Rigid
Akinesia
Shuffling gait
Postural instability
A

PD (nigrostriatal depletion of dopamine secreting neurons)

90
Q

Retinal hemorrhages w/pale centers

A

Roth spots

- bacterial endocarditis

91
Q

Severe jaundice in neonate

A

Cirgler-Najjar syndrome

- congenital unconjugated hyperbilirubinemia

92
Q

Severe RLQ pain w/palpation of LLQ

A

Rovsing’s sign for acute appendicitis

93
Q

Severe RLQ pain w/rebound tenderness

A

McBurney sign for acute appendicitis

94
Q

short stature
increased incidence of tumors/leukemia
aplastic anemia

A

Fanconi anemia

  • genetic loss of DNA crosslink repair
  • often progress to AML
95
Q

Single palmar crease

A

Down syndrome

96
Q

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility

A

Kartagener syndrome

- dynein arm defect affecting cilia

97
Q

Skin hyperpigmentation
HoTN
Fatigue

A

Addison disease

- primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production

98
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy

- X-linked missense mutation on dystrophin

99
Q

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots in measles and rubeola virus

100
Q

smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

101
Q

splinter hemorrhages on nailbeds

A

Bacterial endocarditis

102
Q

Strawberry tongue

A

Kawasaki
Scarlet fever
Toxic shock syndrome

103
Q 
Streak ovaries
congenital heart defects
horseshoe kidney
cystic hygroma at birth
short stature
webbed neck
lymphedma
A

Turner syndrome (45,XO)

104
Q

sudden/swollen big toe joint, tophi

A

Gout or podagra (hyperuricemia)

105
Q

Swollen gums
mucosal bleeding
poor wound healing
petechiae

A

Scurvy (vit C def)

- can’t hydoxylate proline/lysine for collagen synthesis

106
Q

Swollen, hard, painful finger joints

A

OA

  • osteophytes on PIP (bouchard nodes)
  • osteophytes on DIP (Heberden nodes)
107
Q

systolic ejection murmur (crescendo-decrescnedo)

108
Q

thyroid tumors
parathyroid tumors
pheochromocytoma

A

MEN2A

- AD ret mutation

109
Q

thyroid tumors
pheochromocytoma
ganglioneuromatosis

A

MEN2B

- AD ret mutation

110
Q

Urethritis
Conjunctivitis
Arthritis in a male

A

Reactive arthritis a/w HLA-B27

111
Q

Vascular birthmark (port-wine stain)

A

Hemangioma

- benign but a/w Sturge Weber syndrome

112
Q 
Wt loss
diarrhea
arthritis
fever
adenopathy
A

Whipple disease

- Tropheryma whipplei

113
Q

what causes brown pigment stones

A

biliary tract infection

114
Q

what causes black pigment stones

A

intravascular hemolysis

115
Q

what are RFs for biliary sludge (5)

A
  1. gallbladder hypomotility
  2. pregnancy
  3. rapid weight loss
  4. prolonged use of TPN
  5. high spinal cord injuries

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