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First Aid Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abdominal Pain
Ascites
Hepatomegaly

A

Budd-Chiari syndrome

post-hepatic thrombosis

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2
Q

Abdominal Pain
Diarrhea
Leukocytosis
Recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthomas

A

Familial hypercholesterolemia
AKA Type II hyperlipoproteinemia

(decreases LDL receptor signalling)

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4
Q

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-friderichsen syndrome

(meningococcemia)

N. meningitidis

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

positive Anterior “drawer sign”

A

ACL injury (anterior cruciate ligament)

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7
Q

Arachnodactyly
lens dislocation (upward)
Aortic dissection
Hyperflexible joints

A

Marfans syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

Back pain
Fever
Night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

Bilateral hilar lymhadenopathy

uveitis

A

Sarcoidosis (non-caseating granulomas)

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12
Q

Black eschar on face of patient with DKA

A

mucor or rhizopus fungal infection

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13
Q

Blue scera

A

Osteogenesis imperfecta (type 1 collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain
Bone enlargement
Osteoparosis

A

Pagets disease of the bone

Increase osteoblastic and osteoclastic activity

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16
Q

Bounding pulses
Wide pulse pressure
Diastolic murmur
head bobby

A

Aortic regugitation

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17
Q

“Butterfly” facial rash
Raynaud phenomenon
young female

A

Systemic lupus erythematous

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18
Q 
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
Cutaneous neurofibromas 
pheochromocytoma
optic glioma
A

Neurofibromatosis type 1

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19
Q

Cafe-au-lait sits (unilateral)
Polyostotic fibrous displasia
percocious puberty
multiple endocrine abnormalities

A

McCune Albright Syndrome

mosaic G-protein signaling mutation

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy

most commonly Duchenne, due to x-line recessive frameshift mutation of dystrophin gene

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21
Q 
Cervical lymphadenopathy
Desquaminating rash
coronary aneurysms
Red conjunctiva and tongue
Hand-foot changes
Asian race
A

Kawasaki disease
(acute, self-limiting necrotizing vasculitis)

Tx: IVIG and aspirin

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22
Q

“cherry-red” spot on macula

A

Tay Sachs (ganglioside accumulation)

or

Neimann-pick (sphingomyelin accumulation)

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23
Q

Chest pain on exertion

A

Angina

stable: with moderate exertion
(unstable: with minimal exertion or at rest)

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24
Q

Chest pain
Pericardial effusion/friction rub
persistent fever following MI

A

Dressler Syndrome
(auto-immune mediated ost MI fibrinous pericarditis)
(2 weeks to several months after acute MI)

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25
Q

Chest pain with ST depression

A

Unstable angina (with neg troponin)
or
NSTEMI (positive troponin)

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26
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gower’s sign)

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27
Q

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

A

Erythema infectiosum/ fifth disease (“slapped cheek” appearance, caused by parvovirus B19)

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28
Q

Chorea
dementia
caudate degeneration

A

Huntington’s disease

autosomal dominant CAG repeat expansion

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29
Q

Chorioretinitis
hydrocephalus
intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria

A 
McArdle disease 
(skeletal muscle glycogen phosphorylation deficiency)
(glycogenolysis deficiency)
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31
Q

Cold intollerance

A

hypothyroid

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32
Q

Conjugate horizontal gase palsy

horizontal diplopia

A

Internuclear opthalmoplegia

damage to MLF, may be u/l or b/l

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33
Q

Continuous “machine-like” heart murmur

A

PDA

close with indomethacin, NSAID
(keep open with PGE analogs)

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34
Q

Cutaneous/dermal edema due to connective tissue disorer

A

Myxedema (caused by hypothyroidism, grave’s disease)

esp. pre-tibial

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35
Q

Cutaneous flushing
diarrhea
bronchospasm

A

Carcinoid syndrome

right-sided cardiac valvular lesion, increase serotonin (5-HIAA)

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36
Q

Dark purple skin/mouth nodules in patient with HIV

A

Kaposi sarcoma (HHV-9)

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37
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

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38
Q

Dermatitis
Dementia
Diarrhea

A

Pellagra
(niacin deficiency)
Niacin = vit. B3

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39
Q

Dilated cardiomyopathy
edema
alcoholism, or malnutrition

A

Wet beri beri
(thiamine deficiency)

thiamine = vitamine B1

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40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at innoculation site)

tx: penicillin

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41
Q

Dry eyes
Dry mouth
Arthritis

A 
Sjogren syndrome 
(autoimmune destruction of exocrine glands)
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42
Q

Dysphagia (esohageal webs)
Glossitis
Iron deficiency anemia

A

Plummer-Vinson syndrome

may progress to esophageal squamous cell carcinoma

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43
Q

Elastic skin
hypermobility of joints
increased bleeding tendency

A

Ehlers-Danlos syndrome
(type V collage defect)

Type II collagen defect seen in vascular subtype of ED

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo
tinnitus
hearing loss

A

Meneire disease

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46
Q

Erythroderma
Lymphadenopathy
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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47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

Fat
Female
Forty
Fertile

A

Cholelithiasis (gall stones)

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49
Q

Fever, cells, headache, mayalgia

following antibiotic tx for syphyllis

A

Jarisch-Herheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)

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50
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

51
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

52
Q

fibrous plaques in soft tissue of penis with abnl curvature

A

Peyronie’s disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-fleischer rings due to copper accumulation

54
Q

Gout
Intellectual disability
Self-mutilating behavior in a boy

A

Lesch Nyhan

HGPRT deficiency
X-linked recessive

55
Q

Hamartomatous GI polyps

Hyperpygmentation of mouth, feet, genitalia

A

Peutz-Jegher syndrome

Bowl obstruction

autosomal dominant
(mutation in STK11, serine threonine kinase
tumor suppressor gene)

Increased risk for malignancy

56
Q 
Hepatosplenomegaly
Pancytopenia
Osteoporosis
Aseptic necrosis of femoral head 
Bone crisis
A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis
sensorineural hearing loss
cataracts

A

Alport syndrome

mutation in collagen IV

58
Q

Hyperphagia
Hypersexuality
Hyperorality
Hypercacility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia
Hypertonia
Babinski sign

A

UMN damage

60
Q

Hyporeflexia
hypotonia
atrophy
fasciulations

A

LMN damage

61
Q

Hypoxemia
polycythemia
hypercapnia

A

Chronic bronchitis

hyperplasia of mucus cells, blue bloaters

62
Q

Indurated, ulcerated genital lesions

A

Nonpainful: chancre (syphilis)

Painful with exudate: Chancroid (haemophilus ducreyi)

63
Q

Infant with cleft palate
microcephaly or holoprosencephaly
polydactyly
cutis aplasia

A

Patau syndrome (trisomy 13)

64
Q

Infants with hypoglycemia and hepatomegaly

A

Cori disease (debranching enzyme deficiency)

Van Gierke disease (glucose-6-phosphate deficiency, more severe)

65
Q

jaundice

palpable distended non-tender gallbladder

A 
Courvoisier sign
(distal malignant destruction of biliary tree)
66
Q

Infants with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

A

Edwards Syndrome

trisomy 18

67
Q

Large rash with bulls-eye appearance

A

Lyme disease
Borrelia
From ixodes tick bite

tx: doxycycline

68
Q

Lucid interval after TBI

A

Epidermal hematoma (middle meningeal artery rupture)

69
Q

Male child, recurrent infections, no mature B cells

A

Burton disease (x-inked agammaglobulinemia)

70
Q

Mucosal bleeding

Prolonged bleeding time

A

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

71
Q

Muffled heart sounds
distended neck veins
hypotension

A

Beck triad of cardiac tamponade

72
Q

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

A

Gardner syndrome (subtype of FAP)

73
Q

Myopathy (infantile hypertrophic cardiomyopathy)

exercise intollerance

A 
Pompe disease 
(lysosomal alpha-1,4-glucosidase deficiency)
74
Q

Neonate with arm paralysis following birth

A

Erb-duchenne palsy (superior trun C5-c6 brachial plexus injury)
“waiters-tip”

75
Q

No lactation post partum
absent menstruation
cold intollerance

A

Sheehan syndrome (pituitary infarction)

76
Q

Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear opthalmoplegia

A

Multiple sclerosis

77
Q

Painful blue fingers/toes

hemolytic anemia

A

Cold agglutination disease (auto-immune hemolytic anemia caused by mycoplama pneumonia, infectious mononucleosis, CLL)

78
Q

painful fingers/toes that change color from white to blue with cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

79
Q

Painful, raised red lesions on palm and soles

A

janeway lesions (infective endocarditis, septic emboli/microabscesses)

80
Q

Painless jaundiece

A

Cancer of the pancreatic head obstructing bile duct

81
Q

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

A

Henoch-Shonlein purpura (IgA vasculitis affecting skin and kidneys)

82
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (Autosomal dominant)

83
Q

Periorbital and/or peripheral edema
proteinuria (>3.5 g/day)
hypoalbuminemia
Hypercholesterlemia

A

Nephrotic syndrome

84
Q

Pink complexion
dyspnea
hyperventilation

A

Emphysema (“pink puffer”, centriacinar (smoking) or panacinar (alpha1 anti-trypsin deficiency))

85
Q 
Polyuria
Renal tubular acidosis type II
growth failure
electrolyte imbalances
hypophosphatemic rickets
A

Falconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

86
Q

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

A

Lichen planus

87
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

88
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (argyll robertson pupil)

89
Q

Rapidly progressive limb weakness that ascends following GI/upper respiratory infection

A

Guillain-Barre syndrome (acute inflammatory demylenating polyradiculopathy subtype)

90
Q

Rash on palms and soles

A

Coxsackie A,
Secondary syphilis
Rocky mountain spotted fever

91
Q

Recurrent cold
noninflamed abscesses
unusual eczema
high serum IgE

A

hyper IgE (Job syndrome, abnormal neutrophil chemotaxis)

92
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

93
Q

Red “currant Jelly” stools

A

Acute mesenteric ischemia (adults)

Inussusception (children)

94
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

95
Q

Red urine in the morning

Fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

96
Q

Renal cell carcinoma (b/l)
hemangioblastoma
angiomatosis
pheochromocytomai

A

Von Hipple-lindau disease
(dominant tumor suppressor gene mutation)

down regulates a transcription factor (HIF-1) involved in the expression of VEG-F and erythropoieten

97
Q 
Resting tremor
Rigidity
Akinesia
Postural instability
shuffling gat
A

Parkinson’s disease (loss of dopaminergic neurons in substantia nigra)

98
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

99
Q

Severe jaundice in neonate

A

Crigler-Nejjar syndrome (congenital unconjugated hyperbilirubinemia)

100
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing’s sign (acute appendicitis)

101
Q

Severe RLQ pain with deep tenderness

A

McBurney’s sign (acute appendicitis)

102
Q 
Short stature
Cafe au-lait spots 
thumb/radial defects 
Increased incidence of tumors/leukemia 
aplastic anemia
A

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

103
Q

Single palmar crease

A

Down syndrome

104
Q

Situs inversus
Chronic sinusitis
bronchiestasis
infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

105
Q

skin hyperpigmentation
hypotension
fatigue

A

primary adrenocotical insufficiency (ex: addison’s disease)

Causes increased ACTH and Increased Alpha-MSH production)

106
Q

Slow, progressive muscle weakness in boys

A

Becker Muscular dystrophy (x-linked missense mutation in dystrophin, less severe than duchenne)

107
Q

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

A

Koplik spots (measels)

108
Q

Smooth, moist, painless wart-like lesion on genitals

A

Condyloma lata (secondary syphilis)

109
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

110
Q

“Strawberry tongue”

A

Scarlet fever

Kawasaki disease

111
Q 
Streak ovaries
Congenital heart disease
Horse shoe kidney
cystic hygroma at birth
Short stature
Webbed neck 
Lymphedema
A

Turner syndrome (45, XO)

112
Q

Sudden swollen/ painful big toe joint

Tophi

A

Gout (hyperuricemia)

113
Q

Systolic ejection murmur (Crescendo-decrescendo)

A

Aortic stenosis

114
Q 
Telangiectasia
Recurrent epistaxis
Skin discoloration
Arteriovenous malformations
GI bleeding
Hematuria
A

Osler-Weber-Rendu syndrome

Hereditary hemorrhagic telangiectasia

115
Q

Thyroid and parathyroid tumors

Pheochromocytoma

A

MEN2A

autosomal dominant RET mutation

116
Q

Thyroid tumor
Pheochromocytoma
Ganglioneuromatosis

A

MEN2B

AD RET mutation

117
Q

Toe extension/fanning upon palmar scrape

A

Babinski sign (UMN lesion)

118
Q

Unilateral facial drooping involving forehead)

A

LMN facial nerve palsy

UMN lesion spare the forehead

119
Q

Urethritis
Conjunctivitis
arthritis in a male

A

Reactive arthritis associated with HLA-B27

120
Q

Vascular birthmark (port wine stain) on face

A

Nevus flammeus (benign, but associated with sturge-weber syndrome)

121
Q

Vomiting blood following gastroesophageal laceration

A

Mallory-Weiss syndrome

alcoholic and bulimic patients

122
Q

Weight loss
diarrhea
fever
Lymphadenopahty

A

Whipple disease (Tropheryma whipplei)

123
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

First Aid Rapid Review (4 decks)

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