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2 First Aid Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abdominal Pain
Ascites
Hepatomegaly

A

Budd Chiari Syndrome

Post hepatic venous 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 xanthoma

A

Familiar Hypercholesterolemia

DEC LDL receptor signaling

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4
Q

Adrenal Hemorrhage
Hypotension
DIC

A

Waterhouse-Friderichsen syndrome

meningococcemia

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior “drawer sign” (+)

A

Anterior cruciate ligament injury

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7
Q

Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints

A 
Marfan syndrome 
(fibrillin defect)

Chromosome 15*

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8
Q

Athlete with polycythemia

A

2’ 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 adenopathy

Uveitis

A

Sarcoidosis

non caseating granulomas

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12
Q

Black escar on face of DKA patient

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A 
Osteogenesis imperfecta 
(Type I 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
Arthritis

A

Paget disease of bone

INC osteoblastic and osteoclastic activity

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16
Q

Bounding pulses
Diastolic heart murmur
Head bobbing

A

Aortic Regurgitation

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17
Q

Young female
“Butterfly” facial rash
Raynaud phenomenon

A

Systemic lupus erythematosus

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18
Q 
Cafe-au-lait spots 
Lisch nodules (iris hamartoma) 
Cutaneous neurofibromas 
Pheochromocytomas 
Optic Gliomas
A

Neruofibromatosis type I
Pheochomocytoma
Optic gliomas

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19
Q

Cafe-au-lait spots (unilateral)
Polyostotic fibrous dysplasia
Precocious 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 d/t X-linked recessive frameshift mutation of dystrophin gene

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21
Q

Cervical lymphadenopathy
Desquamating rash
Coronary aneurysms
Red conjuctivae and tongue

A

Kawasaki disease
(treat with IV Ig and aspirin)

*Fever for 5 days

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22
Q

“Cherry Red spots” on macula

A 
Tay-Sachs (ganglioside accumulation) 
or 
Niemann-Pick (Sphingomyelin accumulation) 
or 
Central retinal artery occlusion
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23
Q

Chest pain on exertion

A

Angina

  • Stable: moderate exertion
  • Unstable: with minimal exertion or rest
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24
Q

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

A 
Dressler syndrome 
(autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
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25
Q

Chest pain with ST depressions on EKG

A

Unstable angina (tropins negative)
or
NSTEMI (troponins positive)

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26
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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27
Q

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

A

“Slapped cheeks”

  • Erythema infectiosum aka
  • fifth disease aka
  • Parvo virus B19
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28
Q

Cholera, dementia, caudate degeneration

A

Huntington disease
(AD CAG repeat expansion)
*DNA disease

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29
Q

Chorio-retinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

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

A 
McArdle diseaes 
(Skeletal muscle glycogen phosphorylase deficiency)
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31
Q

Cold Intolerance

A

Hypo-thyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Inter-nuclear ophthlmoplegia (damage to MLF; may be unilateral or bilateral)

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33
Q

Continuous “machine-like” heart murmur

A

PDA

  • Close with indomethacin
  • open/maintain with PGE analogs
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34
Q

Cutaneous/dermal edema d/t connective tissue deposition

A

Myxedema

  • hypo-thyroidism
  • Grave’s diseae (pre-tibial)
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35
Q

Cutaneous flushing, diarrhea, bronchospam

A

Carcinoid syndrome

  • right sided cardiac valvular lesions
  • INC 5-HIAA
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36
Q

Dark purple skin/mouth nodules in patient with AIDS

A

Kaposi sarcoma (HHV-8)

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37
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (DKA)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (Niacin/B3 deficincy)

*NAD/Tryptophan def

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39
Q

Dilated cardiomypathy
Edema
Alcoholism or malnutrition

A 
Wet beriberi 
(Thiamine B1 deficiency)
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40
Q

Dog/Cat bite resulting in infection

A

Pasteurella multocida

cellulitis at inoculation site

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41
Q

Dry eyes
Dry mouth
Arthritis

A

Sjogren

Autoimmune destruction of EXO-crine glands

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42
Q

Dysphagia (esophageal 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
INC bleeding tendency

A

Ehlers-Danlos syndrome

  • Type V collagen defect
  • Type III 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

Meniere disease

*INC volume and pressure of vestibular endolymph

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46
Q

Erythro-derma
Lymphadenopathy
Hepato-Splenomegaly
atypical T cells

A

Mycosis fungoides
(cutaneous T cell lymphoma)

Sezary syndrome (mycosis fungoides + malignant T cells in blood)

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47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypO-calcemia)

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48
Q

Fat
Female
Fertil
Forty

A

Cholelithiasis (gallstones)

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49
Q 
Fever 
Chills 
Headache 
Myalgia 
following antibiotic Tx for syphilis
A

Jarisch-Herxheimer reaction

rapid lysis of spirochetes results in endo-toxin release

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50
Q 
Fever
Cough 
Conjunctivitis
Coryza
Diffuse rash
A

Measles

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51
Q

Fever
Night sweats
Weight loss

A

B symptoms (staging) of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (Connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Kayser-Fleischer

copper accumulation from Wilson Disease)

54
Q

Gout
Intellectual disability
Self mutilating behavior
Boy

A

Lesch-Nyhan syndrome

  • HGPRT deficiency
  • X-linked recessive
55
Q 
Hamartomatous GI polyps 
Hyperpigmentation (muscutaneous macules) of:  
- mouth
- feet 
- genitalia
A

Peutz-Jeghers syndrome

  • inherited
  • benign polyposis can cause bowel obstruction
  • INC cancer risk, mainly GI
56
Q 
Hepato-Splenomegaly 
Pancytopenia 
Osteoporosis 
Aseptic necrosis of the femur 
Bone crisis
A

Gaucher disease

  • Glucocerebrosidase deficiency
  • BONY disease
57
Q

Hereditary nephritis
Sensorineural hearing loss
Cataracts

A

Alport syndrome

Collagen type IV mutation

58
Q

Hyper-Phagia
Hyper-Sexuality
Hyper-Orality
Hyper-Docility

A

Kluver-Bucy Syndrome

Bilateral Amygdala lesion

59
Q

Hyper-Reflexia
Hyper-Tonia
Babinski (+)

A

UMN lesion

60
Q

Hypo-Reflexia
Hypo-Tonia
Atrophy
Fasciculations

A

LMN lesion

61
Q

Hypoxemia
Polycythemia
Hyper-Capnia

A

BLUE bloater

  • Chronic bronchitis
  • Hyperplasia of mucous cells
62
Q

Indurated, ulcerated genital lesion

A

Pain-LESS - Chancre (1’ Syphilis/T pallidum)

Pain-FULL + Exudate: Chancroid (H ducreyi)

63
Q

Infant with “cherry red” spot on macula
Hepatosplenomegaly
Neurodegeneration

A

Niemann-Pick disease

genetic sphingomylinase deficiency

64
Q

Infant with cleft lip/palate
Microcephaly or holo-prosen-cephaly
Polydactyly
Cutis aplasia

A

Patau syndrome

Trisomy 13

65
Q

Infant with hypO-glycemia

Hepatomegaly

A 
Cori disease (debranching enzyme deficiency) 
-or-
Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
66
Q

Infant with microcephaly
Rocker-bottom feet
Clenched hands
structural heart defect

A

Edwards syndrome

Trisomy 18

67
Q

Jaundice

Palpable distended, NON-tender gallbladder

A

Courvoisier sign

distal obstruction of biliary tree

68
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans from Ixodes tick bite

- Lyme disease/Borrelia

69
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma

- Middle menigeal artery rupture

70
Q

Male child
Recurrent infections
NO mature B cells

A

Bruton disease

X linked A-gamma-globinemia

71
Q

Mucosal bleeding

Prolonged Bleeding time

A

Glanzmann Thrombasthenia

Defect in platelet aggregation due to lack of GpIIb/IIIa

72
Q

Muffled heart sounds
Distended neck veins
hypO-tension

A

Beck triad of cardiac tamponade

*pericardiocentesis

73
Q

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

A

Gadner syndrome

subtype of FAP

74
Q

Myopathy (infantile hypertrophic cardiomyopathy)

exercise intolerance

A

Pompe disease

lysosomal alpha-1-4-glucosidase deficiency

75
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy

superior trunk C5-C6 brachial plexus

“Waiter’s tip”

76
Q

No lactation post-partum
Absent menstruation
Cold intolerance

A

Sheehan syndrome (pituitary infarction)

77
Q

Nystagmus
Intention tremor
Scanning speech
Bilateral Internuclear ophthalmoplegia

A

Multiple sclerosis

78
Q

Pain-ful blue fingers/toes

Hemolytic anemia

A

Cold agglutinin disease

Autoimmune hemolytic anemia caused by:

  • Mycoplama pneumonia
  • Infectious mononucleosis
  • CLL
79
Q

Pain-ful fingers/toes

Changing in color from blue-white-red with cold/stress

A

Raynaud phenomenon (vasospasm in extremities)

80
Q

Pain-ful, raised nodules on pads of fingers/toes

A

Osler nodes

  • Infective endocarditis
  • Immune complex deposition
81
Q

Pain-LESS erythematous lesions on palms and soles

A

Janeway lesions

  • Infective endocarditis
  • Septic emboli
  • Microabscesses
82
Q

Painless jaundice

A

Cancer of the pancreatic head that obstructs the bile duct

83
Q

Palpable purpura on buttocks/legs
Joint Pain
Abdominal Pain (child)
Hematuria

A

Henoch-Schonlein purpura (HSP)

IgA vasculitis affecting

  • SKIN
  • KIDNEYS
84
Q

Tumors in

  • Pancreas
  • Pituitary
  • Parathyroid
A

MEN 1

- Auto Dominant

85
Q

Peri-orbital and/or peripheral edema
Proteinuria
HypO-albuminemia
Hyper-cholesterolemia

A

Nephr-O-tic syndrome

86
Q

Pink complexion
Dyspnea
Hyper-ventilation

A

Pink Puffer
Emphysema
- Central acinar (smoker)
- Pan acinar (alpha 1 anti trypsin deficiency)
- Para-septal / Distal acinar (tall thin, apical bleb)

87
Q 
Polyuria 
Renal tubular acidosis type II 
Growth Failure
Electrolyte imbalances 
Hypo-Phosphatemic rickets
A

Fanconi syndrome

  • Multiple combined dysfunction of the PROXIMAL convoluted tubule
88
Q

Pruritic, purple, polygonal planar papules and plaques (6 Ps)

A

Lichen planus

89
Q

Ptosis
Miosis
Anhidrosis

A

Horner syndrome

- Sympathetic chain lesion

90
Q

Pupil accommodates but does not react

A

Argyll Robertson Pupil

- Neuro-Syphilis

91
Q

Rapidly progressive limb weakness

Ascends following GI/AURT infection

A

Guillain-Barre syndrome

- Acute inflammatory de-mylinating poly-radiculo-pathy subtype

92
Q

Rash on palms and soles

DDx:

A

Coxackie A
2’ Syphilis
Rocky Mountain spotted fever

93
Q

Recurrent cold (non-inflammed) abscess
Unusual eczema
HIGH serum IgE

A

Hyper-IgE syndrome

Job syndrome: neutrophil chemotaxis abnormality

94
Q

Red “currant jelly” sputum in

  • Alcoholics
  • Diabetics
A

Klebsiella pneumoniae pneumonia

95
Q

Red “currant jelly” stools in

  • Adults
  • Children
A

Adults: Acute mesenteric ischemia

Children: Intussusception

96
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast

  • sign of underlying neoplasm
    • “Ugly nipples”
97
Q

Red urine in the morning

Fragile RBCs

A

Paroxysmal nocturnal hemo-globin-uria

98
Q

Renal cell carcinoma (bilateral)
Hemangio-blastomas
Angio-matosis
Pheochromocytoma

A

von Hippel-Lindau disease

Dominant tumor suppressor gene mutation

99
Q 
Resting tremor 
Rigidity 
Akinesia 
Postural instability 
Shuffling gait
A

Parkinson’s disease

loss of dopaminergic neurons in substantia nigra pars compacta

100
Q

Retinal hemorrhages with pale centers

A 
Roth spots 
(bacterial endo-carditis)
101
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome

congenital uncongugated hyper-bilirubinemia

102
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute AP)

103
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute AP)

104
Q 
Short stature
Cafe au lait spots 
Thumb/radial defects 
INC incidence of tumors/leukemia 
Aplastic anemia
A

Fanconi anemia

  • Genetic loss of DNA crosslink repair
  • Often progresses to AML
105
Q

Single palmar crease

A

Down syndrome

106
Q

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility

A

Kartagener syndrome

dynein arm defect affecting cilia

107
Q

Skin hyper-pigmentation
Hypo-tension
Fatigue

A

1’ adreno-cortical insufficiency (Addison’s disease) causes

  • INC ACTH
  • INC alpha-MSH
108
Q

Slow, progressive muscle weakness in boys

A

Becker Muscular Dystrophy

  • X linked mis-sense mutation in dystrophin
  • Less severe than Duchenne
109
Q

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

A

Koplik spots

  • Measles/Rubeola virus
110
Q

Wart-like genital lesion

  • smooth
  • moist
  • pain-less
A

Condylomata lata

  • 2’ syphilis
111
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

112
Q

Strawberry tongue

DDx (2)

A

Scarlet fever

Kawasaki disease

113
Q 
Streak ovaries 
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth 
Short stature 
Webbed neck 
Lymphedema
A

Turner syndrome (45, XO)

114
Q

Sudden swollen/painful big toe joint

Tophi

A

Gout / Podagra (hyper-uricemia)

115
Q

Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae

A

Scurvy

  • Vit C deficiency
  • can’t hydroxylate proline/lysine for collagen synthesis
116
Q

Swollen, hard, painful finger joints

A

Osteo-arthritis

  • Osteo-phytes on PIP “Bouchard nodes”
  • DIP “Heberden Nodes”
117
Q

Systolic ejection murmur

- crescendo-decrescendo

A

Aortic Stenosis

118
Q 
Telangiectasias
Recurrent epistaxis 
Skin discoloration 
Arterio-venous malformations 
GI bleeding 
Hematuria
A

Osler Weber Rendu syndrome

119
Q

Thyroid Tumor
Pheochromocytoma

Parathyroid Tumor

A

MEN 2A

- Auto dominant RET mutation

120
Q

Thyroid Tumor
Pheochromocytoma

Ganglio-neuromatosis

A

MEN 2B

- Auto dominant RET mutation

121
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign

- UMN lesion

122
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy

Note: UMN lesions SPARE the forehead

123
Q

Urethritis
Conjunctivitis
Arthritis
Male

A

Reactive arthritis

  • Associated with HLA-B27
124
Q

Vascular birthmark (port wine stain) of the face

A

Nevus Flammeus

  • Benign but associated with Sturge-Weber syndrome
125
Q

Vomiting blood following gastro-esophageal lacerations

A

Mallory Weiss syndrome

  • Alcoholic and bulimic patients
126
Q 
Weight loss
Diarrhea 
Arthritis 
Fever 
Adenopathy
A

Whipple disease

  • Tropheryma whipplei
127
Q

“Worst headache of my life”

A

Sub-arachnoid hemorrhage

2 First Aid Rapid Review (5 decks)

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