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Classic Presentations Flashcards

1
Q

Abdominal pain

Ascities

Hepatomegaly

A

Budd-Chiari Syndrome

(thrombosis of portal vein)

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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-Friderichsen syndrome

(meningococcemia from neisseria menengiditis)

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4
Q

Arachnodactyly

Lens dislocation

Aortic dissection

Hyperreflexible joints

A

Marfan’s syndrome

(fibrillin defect)

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5
Q

Athlete with polycythemia

A

EPO injections

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6
Q

Back pain

Fever

Night sweats

Weight loss

A

Pott’s disease

(vertebral tuberculosis)

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7
Q

Bilateral hilar adeopathy

Uveitis

A

Sarcoidosis

(noncaseating granuloma)

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8
Q

Blue Sclera

A

Osteogenesis Imperfecta

(Collagen type 1 defect)

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9
Q

Bluish line on gingiva

A

Burton’s disease

(Lead poisoning)

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10
Q

Bone pain

Bone enlargement

Arthritis

A

Paget’s disease of bone

(increase osteoblastic/osteoclastic activity)

(isolated elevated Alkaline phosphatase)

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11
Q

Bounding pulses

Diasolic heart murmur (right sternal border)

Head bobbing

A

Aortic regurgitation

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12
Q

“Butterfly” facial rash

Raynaud’s phenomenon in young female

A

Systemic lupus erythematosus (SLE)

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13
Q

Cafe-au-lait spots

Polycystic fibrous dysplasia

Precocious puberty

A

McCune-Albright syndrome

(mosaic G-protein signaling mutaiton)

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14
Q

Cafe-au-lait spots

Lisch nodules (iris hamartoma)

Pheochromocytoma

Optic gliomas

A

Neurofibromatosis type I

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15
Q

Cafe-au-lait spots

Lisch nodules (iris hamartoma)

Bilateral acoustic neuromas

A

Neurofibromatosis type 2

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16
Q

Gowers’ sign

Calf pseudohypertrophy

A

Muscular dystrophy

(most commonly Duchenne’s)

X linked-recessive deletion of dystrophin gene

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17
Q

Cherry red spot on macula

A

Tay-Sachs (gnglioside accumulation)

or

Niemann-Pick (sphingomyelin accumulation)

Symptom due to central retinal artery occlusion

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18
Q

Chest pain on exertion

A

Angina

(stable: moderate exertion)
(unstable: at rest)

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19
Q

Chest pain

Pericardial effusion/friction rub

Persistent fever following MI

A

Dressler’s syndrome

(auto-immune post-MI fibrinous pericardidits)

1-12 weeks after acute episode

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20
Q

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

A

“Slapped cheeks”

(erythema infectiosum/fifth disease: Parvovirus B19)

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21
Q

Chorea

Dementia

Caudate Degeneration

A

Huntington’s disease

(autosomal dominant CAG repeat expansion)

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22
Q

Chronic exercise intolerance with myalgia

Fatigue

Painful cramps

myoglobinuria

A

McArdle’s diease

(muscle glycogen phosphorylase deficiency)

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23
Q

Cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy

(eye cannot adduct when looking contrallaterally)

Horizontal diplopia

A

Internuclear ophthalmoplegia

(damage to MLF)

Bilateral = multiple sclerosis

Unilateral = stroke

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25
Q

Continuous “machinery” heart murmur

A

PDA (patent ductus arteriosus)

Close with indomethacin (COX inhibitor)

Open with misoprostol

DA stays open in presence of prostaglandins

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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedma

(caused by hypothyroidism)

or

(caused by Grave’s disease)

periorbital myxedma

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma

(associated with HHV-8 in AIDS patients)

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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breating (diabetic ketoacidosis)

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29
Q

Dermatitis, dementia, diarrhea

A

Pellagra

(Niacin (B3) deficiency)

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30
Q

Dilated cardiomyopathy

Edema

Polyneuropathy

A

Wet beriberi

(Thiamine [B1] deficiency)

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida

(cellulitis at inoculation site)

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32
Q

Dry eyes

Dry mouth

Arthritis

A

Sjogren’s syndrome

(autoimmune destruction of exocrine glands)

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33
Q

Dysphagia (esophageal webs)

Glossitis

Iron deficiency anemia

A

Plummer-Vinson syndrome

(from Iron deficiency, but its the triad of symptoms)

(can progress to esophageal squamous cell carcinoma)

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34
Q

Elastic skin

Hypermobility of joints

A

Ehlers-Danlos syndrome

(Type III collagen defect)

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35
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node

(abdominal metastasis)

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36
Q

Erythroderma

Lynphadenopathy

Hepatosplenomegaly

Atypical T cells

A

Sezary syndrome (cutaneous T-cell lymphoma)

or

Mycosis fungoides

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37
Q

Facial muscle spasm on tapping

A

Chvostek’s sign

(hypocalcemia-facial nerve)

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38
Q

Fat

Female

40 yrs old

Fertile

Increased alkaline phosphatase

A

Acute cholelithiasis

(bile duct blockage)

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39
Q

Fever, chills

Headache

Myalgia following antibiotic treatmet for syphilis

A

Jarisch-Herxheimer reaction

(rapid lysis of spirochetes results in toxin release)

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40
Q

Fever

Cough

Conjunctivitis

Coryza (cold symptoms like inflammed nasal mucosa)

Diffuse rash

A

Measles

(Morbillivirus)

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41
Q

Fever

Night sweats

Weight loss

A

B symptoms

(lymphoma)

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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

Gout

Mental retardation

Self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome

(HGPRT deficiency)

(X-linked recessive)

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44
Q

Green-yellow rings around cornea

A

Kayser-Fleischer rings

(copper accumulation from Wilson’s disease)

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45
Q

Hamartomatous GI polyps

Hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

(genetic benign polyposis can cause bowel obstruction)

(increased cancer risk)

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46
Q

Hepatosplenomegaly

Osteoporosis

Neurologic symptoms

A

Gaucher’s disease

(glucocerebrosidase deficiency)

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47
Q

Hereditary nephritis

Sensorineural hearing loss

Cataracts

A

Alport syndrome

(mutation in alpha chain of collagen type IV)

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48
Q

Hypercoagulability

(leading to migrating DVTs and vasculitis)

A

Trousseau’s sign

(adenocarcinoma of pancreas or lung)

49
Q

Hyperphagia

Hypersexuality

Hyperorality

Hyperdocility

A

Kluver-Bucy syndrome

(bilateral amygdala lesion)

50
Q

Hyperreflexia

Hypertonia

Positive Babinski sign

A

Upper motor neuron lesion (UMN)

51
Q

Hypertension

Hypokalemia

Metabolic alkalosis

A

Conn’s syndrome

52
Q

Hyporeflexia

Hypotonia

Atrophy

A

Lower motor neuron lesion (LMN)

53
Q

Hypoxemia

Polycythemia

Hypercapnia

A

“Blue bloater” chronic bronchitis

(hyperplasia of mucous cells, COPD)

54
Q

Nonpainful indurated, ulcerated genital lesion

A

Chancre

(1o syphilis, Treponema pallidum)

55
Q

Painful indurated, ulcerated genital lesion with exudate

A

Chancroid (Haemophilus ducreyi)

56
Q

Infant with failure to thrive

Hepatosplenomegaly

Neurodegeneration

A

Niemann-Pick disease

(genetic sphingomyelinase deficiency)

57
Q

Infant with hypoglycemia

Failure to thrive

Hepatomegaly

A

Cori’s disease

(debranching enzyme deficiency)

58
Q

Infant with microcephaly

Rocker-bottom feet

Clenched hands

Structural heart defect

A

Edwards’ syndrome

(trisomy 18)

59
Q

Keratin pearls on skin biopsy

A

Squamous cell carcinoma

60
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans from tick bite

(Lyme disease: Borrelia)

61
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

62
Q

Male child

Recurrent infections

no mature B cells

A

Bruton’s disease

(X-linked agammaglobulinemia)

63
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia

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

64
Q

Multiple colon polyps

Osteomas/soft tissue tumors

Impacted/supernumerary teeth

A

Gardner’s syndrome (subtype of FAP)

65
Q

Myopathy (infantile hypertrophic cardiomyopathy)

Exercise intolerance

A

Pompe’s diease

(lysosomal alpha-1,4-glucosidase deficiency)

66
Q

Necrotizing vasculitis (lungs)

Necrotizing glomerulonephritis

A

Wegener’s (c-ANCA positive)

and

Goodpasture’s syndrome (anti-basement memberane antibodies)

67
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy

(superior trunk [C5-C6] brachial plexus injury])

“waiter’s tip”

68
Q

No lactation postpartum

Absent menstruation

Cold intolerance

A

Sheehan’s 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 respirations

(central apnea in CHF)

or

(increased intracranial pressure)

71
Q

Painful blue fingers/toes

Hemolytic anemia

A

Cold agglutinin disease

(autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

72
Q

Painful, pale, cold fingers/toes

A

Raynaud’s syndrome

(vasospasm in extremities)

73
Q

Painful, raised lesions on palms and soles

A

Osler’s node

(infective endocardidits)

74
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions

(infective endocardidits)

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)

A

Henoch-Schonlein purpura

(IgA vasculitis affecting skin and kidneys)

77
Q

Pancreatic tumor

Pituitary tumor

Parathyroid tumor

A

MEN 1

(autosomal dominant)

78
Q

Pink complexion

Dyspnea

Hyperventilation

A

“Pink puffer”- Emphysema

(centroacinar [smoking])

(panacinar [alpha1-antitrypsin deficiency])

79
Q

Polyuria

Acidosis

Growth Failure

Electrolyte imbalances

A

Fanconi’s syndrome

(Proximal tubular reabsorption defect)

80
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament (ACL) injury

81
Q

Ptosis

Anhydrosis

Miosis

A

Horner’s syndrome

(Face sympathetic chain lesion)

82
Q

Pupil accommodates but does not react

A

Argyll Robertson pupil (neruosyphillis)

83
Q

Rapidly progressive leg weakness that ascends
(following GI or upper respiratory infection)

A

Guillain-Barre syndrome

(autoimmune acute inflammatory demyelinating polyneuropathy)

84
Q

Rash on Palms and Soles

A

Coxsackie A

Rocky mountain spotted fever (Rikettsia Rickettsii)

2o Syphillis

(you drive CARS with palms and soles)

85
Q

Recurrent colds
Unusual eczema
High Serum IgE

A

Hyper-IgE syndrome

(Job’s syndrome: neutrophil chemotaxis abnormality)

86
Q

Red “current jelly” sputum in alcoholic or diabetic patient

A

Klebsiella pneumoniae

87
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast

(represents underlying neoplasm)

88
Q 
Red urine in the morning
 Fragile RBCs (anemia)
A

Paroxysmal nocturnal hemoglobinuira

89
Q

Renal cell carcinoma (bilateral)
Hemangioblastoma
Angiomatosis
Pheochromocytoma

A

Von Hippel-Lindau disease

(dominant tumor suppressor gene mutation)

90
Q

Restring tremor
Rigidity
Akinesia
Postural instability

A

Parkinson’s disease

(nigrostraitial dopamine deplethion)

91
Q

Retinal hemorrhages with pale centers

A

Roth’s spots

(bacterial endocarditis)

92
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome

(congenital unconjugated hyperbilirubinemia)

93
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

94
Q

Short stature
Increased incidence of tumors/leukemia
Aplastic anemia

A

Fanconi’s anemia
(genetic loss of DNA crosslink repair)
(often progress to ALS)

95
Q

Single palm crease

A

Simian crease

(Down syndrome)

96
Q

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility

A

Kartagener’s syndrome

(dynein arm defect affecting cilia)

97
Q

Skin hyperpigmentation

A

Addison’s disease

(increased ACTH and alpha-MSH production)

(1o adrenocortical insufficiency)

98
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy
(X-linked missense mutation in dystrophin)
(Less severe than Duchenne’s)

99
Q

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

A

Koplik spots

(measles; rubeola virus)

100
Q

Smooth, flat, moist white lesions on genitals

A

Condylomata lata (2o syphilis)

101
Q

Splinter hemorrhage in fingernails

A

Bacterial endocardidits

102
Q

Strawberry tongue

A

Scarlet fever
Kawasaki disease
Toxic shock syndrome

103
Q

Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth

A

Turner syndrome
(45XO)
(short stature, webbed neck, lymphedema)

104
Q

Sudden swollen/painful big toe joint
Tophi (deposit of urate crystals)

A

Gout/podagra

(hyperuricemia)

105
Q

Swollen gums
Mucous bleeding
Pour wound healing
Spots on skin

A

Scurvy
(vitamin C deficiency)
(cannot hydroxylate proline/lysine for collagen synthesis)

106
Q

Swollen, hard, painful finger joints

A

Osteoarthritis
(osteophytes on PIP [Bouchard’s nodes])
(osteophytes on DIP [Heberden’s nodes])

107
Q

Systolic ejection murmur
(crescendo-decresendo)

A

Aortic valve stenosis

108
Q

Thyroid tumors
Parathyroid tumors
Pheochromocytoma

A

MEN 2A

(autosomal dominant ret mutation)

109
Q

Thyroid tumors
Pheochromocytoma
Ganglioneuromatosis

A

MEN 2B

(autosomal dominant ret mutation)

110
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

111
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (LMN VII palsy)

112
Q

Urethritis
Conjuctivitis
Arthritis
All in a male

A

Reactive arthritis associated with HLA-B27

113
Q

Vascular birthmark (port-wine stain)

A

Hemangioma

(Benign but associated with Sturge-Weber syndrome)

114
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome

(alcoholic and bulimic patients)

115
Q

“Waxy” casts with very low urine flow

A

Chronic end-stage renal disease

116
Q

WBC casts in urine

A

Acute pyelonephritis

117
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease

(Tropheryma whippelii)

118
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

Rapid Review (4 decks)

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