Classic Presentations Flashcards

1
Q

What is this presentation?

Abdominal pain, Ascites, Hepatosplenomegaly

A

Budd-Chiari (Post-hepatic venous thrombosis)

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2
Q

What is this presentation?

Achilles tendon xanthoma

A

Familial hypercholesterolemia

Deficient LDL receptor

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3
Q

What is this presentation?

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-Friderichsen Syndrome

Meningococcemia

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4
Q

What is this presentation?

Arachnodactyly (long/slender fingers)
Lens dislocation
Aortic dissection
Hyperflexible joints

A

Marfan’s

Fibrillin defect

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5
Q

What is this presentation?

Athlete w/ polycythemia

A

Secondary to erythropoietin injection

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6
Q

What is this presentation?

Back pain
Fever
Night sweats
Weight loss

A

Pott’s disease

Vertebral tuberculosis

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7
Q

What is this presentation?

Bilateral hilar adenopathy

Uveitis

A

Sarcoidosis

Noncaseating granulomas

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8
Q

What is this presentation?

Blue sclera

Fractures

A

Osteogenesis Imperfecta

Type 1 collagen deffect

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9
Q

What is this presentation?

Bluish line on gingiva

A

Burton’s line

LEAD poisoning

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10
Q

What is this presentation?

Bone pain
Bone enlargement
Arthritis

A

Paget’s disease of bone

High osteoBLASTIC and osteoCLASTIC activity

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11
Q

What is this presentation?

Bounding pulses
Diastolic heart murmur
Head bobbing

A

Aortic regurgitation

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12
Q

What is this presentation?

Butterfly facial rash
Raynaud’s phenomenon
Young female

A

SLE

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13
Q

What is this presentation?

Cafe au lait spots
Iris harmatoma (Lisch nodules)
Pheochromocytoma
Optic gliomas

A

NF-1

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14
Q

What is this presentation?

Cafe au lait spots
Precocious puberty
Polyostotic fibrous dysplasia
Multiple endocrine abnormalities

A

McCune-Albright syndrome

Mosaic G protein signaling mutation

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15
Q

What is this presentation?

Calf pseudohypertrophy

A

Muscular dystrophy, usually Duchenne’s

X-linked recessive deletion of DYSTROPHIN

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16
Q

What is this presentation?

“Cherry red spot” on macula

A
Tay-Sachs: GM2 ganglioside accumulation
or
Neimann-Pick: Sphingomyelin accumulation
or
Central retinal artery occlusion
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17
Q

What is this presentation?

Chest pain on exertion

A

Angina

Stable: Moderate exertion

Unstable: Minimal exertion

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18
Q

What is this presentation?

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

A

Dressler’s syndrome
(FIBRINOUS PERICARDITIS)

Autoimmune-mediated post-MI
1-2 weeks afterward

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19
Q

What is this presentation?

Child uses arms to stand up from squat

A

Gower’s sign:

Duchenne’s muscular dystrophy

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20
Q

What is this presentation?

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

“Slapped cheeks”

A

Erythema infectiosum/fifth disease

Parvovirus B19

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21
Q

What is this presentation?

Chorea
Dementia
Caudate degeneration

A

Huntington’s disease

Autosomal DOMINANT CAG repeat expansion

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22
Q

What is this presentation?

Chronic exercise intolerance w/
Myalgia
Fatigue
Painful cramps
Myoglobinuria
A

McArdle’s disease

Muscle glycogen phosphorylase deficiency

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23
Q

What is this presentation?

Cold intolerance

A

Hypothyroidism

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24
Q

What is this presentation?

Conjugate lateral gaze palsy

Horizontal diplopia

A

Internuclear ophthalmoplegia
(Damage to MLF)

Bilateral: MS
Unilateral: Stroke

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25
Q

What is this presentation?

Continuous “machinery” heart murmur

A

PDA

CLOSE w/ INDOMETHACIN

MAINTAIN OPEN w/ MISOPROSTOL

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26
Q

What is this presentation?

Cutaneous/dermal edema

A

Myxedema (CT deposition)

Due to:
Hypothyroidism
Grave’s disease (Pre-tiblal deposition)

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27
Q

What is this presentation?

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma

AIDS; associated w/ HHV-8, enveloped DNA virus

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28
Q

What is this presentation?

Kussmal breathing: Deep, labored breathing/hyperventilation

A

DKA (Diabetic ketoacidosis)

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29
Q

What is this presentation?

Dermatitis
Dementia
Diarrhea

A

Pellagra

B3/Niacin deficiency

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30
Q

What is this presentation?

Dilated cardiomyopathy
Edema
Alcoholism/malnutrition

A

Wet beri-beri

Thiamine/B1 deficiency

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31
Q

What is this presentation?

Dog or cat bite –> Infection

w/ cellulitis @ inoculation site

A

Pasteurella multocida

Gram NEGative, coccobacillus, penicillin-sensitive

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32
Q

What is this presentation?

Dry eyes
Dry mouth
Arthritis

A

Sjogren’s syndrome

Autoimmune destruction of exocrine glands

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33
Q

What is this presentation?

Dysphagia (esophageal webs)
Glossitis
Iron deficiency anemia

A

Plummer-Vinson syndrome

(Chronic Iron deficiency anemia–> Thin esophageal web growth)

Can progress –>Esophageal SqCC

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34
Q

What is this presentation?

Elastic skin

Hypermobility of joints

A

Ehlers-Danlos

Type 3 collagen defect

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35
Q

What is this presentation?

Enlarged, hard Left supraclavicular node

A

Virchow’s node

Abdominal metastasis

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36
Q

What is this presentation?

Erythroderma
Lymphadenopathy
Hepatosplenomegaly
Atypical T cells

A
Sezary syndrome
(Cutaneous T cell lymphoma= "Mycosis fungoides")

Tx: Sunlight exposure, steroids, chemo

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37
Q

What is this presentation?

Facial muscle spasm upon tapping

A

Chvostek’s sign

HYPOcalcema

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38
Q

What is this presentation?

Fat
Female
Forty
Fertile

A

Cholelithiasis

Gallstones

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39
Q

What is this presentation?

Following ANTIBIOTIC TX for SYPHILLIS:
Fever
Chills
Headache
MYALGIA
A

Jarisch-Herxheimer reaction

Rapid lysis of spirochetes–>toxin release

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40
Q

What is this presentation?

Fever
Cough
Conjunctivitis
Coryza (nasal inflammation)
Diffuse RASH
A

Measles (Morbillivirus)

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41
Q

What is this presentation?

Fever
Night sweats
Weight loss

A

B symptoms of lymphoma

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42
Q

What is this presentation?

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease

CT disorder

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43
Q

What is this presentation?

Boy
Gout
Mental retardation
Self-mutilating behavior

A

Lesch-Nyhan
(HGPRT deficiency–>Uric acid buildup)
X linked

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44
Q

What is this presentation?

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings: Wilson’s disease

Copper accumulation

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45
Q

What is this presentation?

Harmatomatous GI polyps

Hyperpigmentation of mouth/hands/feet

A

Peutz-Jeghers syndrome
(Inherited. GI cancer risk)

Benign polyposis can cause GI obstruction

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46
Q

What is this presentation?

Hepatosplenomegaly
Osteoporosis
Neurologic symptoms

A

Gaucher’s disease

Deficient glucocerebrosidase

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47
Q

What is this presentation?

Hereditary nephritis
Sensorineural hearing loss
Cataracts

A

Alport syndrome
(Mutation in Alpha chain
of collagen type 4)

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48
Q

What is this presentation?

Hyperphagia
Hypersexuality
Hyperorality

A

Kluver-Bucy syndrome

Bilateral amygdala lesion

49
Q

What is this presentation?

Hyperreflexia
Hypertonia
Babinski’s sign

A

UMN damage

50
Q

What is this presentation?

Hyporeflexia
Hypotonia
Atrophy
Fasiculations

A

LMN damage

51
Q

What is this presentation?

Hypoxemia
Polycythemia
Hypercapnia (High CO2)

A

“Blue bloater”

Chronic bronchitis: Hyperplasia of mucous cells

52
Q

What is this presentation?

Indurated, ulcerated genital lesion

A

Nonpainful: Chancre (primary syphillis: Treponema pallidum, gram NEG spirochete)

Painful w/ exudate: Chancroid (Haemophilus ducreyi (fastidious gram NEG coccobacillus; chocolate agar; tx: macrolide & 3rd gen cephalosporin)

53
Q

What is this presentation?

Infant
Cleft palate
Microcephaly or Holoprosencephaly
Polydactyly
Cutis aplasia,  absent skin/scars
A

Patau’s (Trisomy 13)

54
Q

What is this presentation?

Infant
Failure to thrive
Hepatosplenomegaly
Neurodegeneration

A

Neimann-Pick disease
(Sphingomyelinase deficiency, genetic)
+ cherry red spot on macula

55
Q

What is this presentation?

Infant
Hypoglycemia
Failure to thrive
Hepatomegaly

A

Cori’s disease

Debranching enzyme deficiency

56
Q

What is this presentation?

Infant
Microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defect
A

Edward’s (Trisomy 18)

57
Q

What is this presentation?

Jaundice

Palpable distended non-tender gallbladder

A

Courvoisier’s sign

Distal obstruction of the biliary tree

58
Q

What is this presentation?

Large rash w/ bull’s eye appearance

A

Lyme disease
(Ixodes tick bite: Borrelia)

“Erythema chronicum migrans”

59
Q

What is this presentation?

Lucid interval after TBI

A

Epidural hematoma

Middle meningial artery rupture

60
Q

What is this presentation?

Male child
Recurrent infections
No mature B cells

A

Bruton’s disease

X-linked agammaglobinemia

61
Q

What is this presentation?

Mucosal bleeding

Prolonged bleeding time

A

Glanzmann’s thrombasthenia
(Defect in platelet aggregation
due to lack of GP2b/3a)

62
Q

What is this presentation?

Muffled heart sounds
Distended neck veins
Hypotension

A

Cardiac tamponade

Beck’s triad

63
Q

What is this presentation?

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

A

Gardner’s syndrome

Subtype of GAP

64
Q

What is this presentation?

Myopathy (infantile hypertrophic cardiomyopathy)

Exercise intolerance

A

Pompe’s: Glycogen storage disease 2

Lysosomal a-1,4 glucosidase deficiency

65
Q

What is this presentation?

Neonate w/ arm paralysis following difficult birth

A

Erb-Duchenne palsy (Waiter’s tip)

C5-C6 brachial plexus injury

66
Q

What is this presentation?

No lactation postpartum
Absent menstruation
Cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

67
Q

What is this presentation?

Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear opthalmoplegia

A

MS

68
Q

What is this presentation?

Oscillating slow/fast breathing

A

Cheyne-Stoke’s respirations
(Central apnea in CHF
or
Increased ICP)

69
Q

What is this presentation?

Painful blue fingers/toes

Hemolytic anemia

A

Cold agglutinin disease
(Autoimmune when body is at low temps, IgM directed against RBC’s
–> hemolytic anemia)

Caused by:
Mycoplasma pneumoniae
EBV

70
Q

What is this presentation?

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon

Vasospasm in extremities

71
Q

What is this presentation?

PainFUL, raised red lesions of

finger pads and toes

A

Osler’s node

Infective endocarditis; immune complex deposition

72
Q

What is this presentation?

PainLESS erythematous lesions on palms and soles

A

Janeway lesions
(Infective endocarditis
Septic emboli/microabcesses)

73
Q

What is this presentation?

Painless jaundice

A

Cancer of the pancreatic head –> Obstruction of the bile duct

74
Q

What is this presentation?

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

A

Henoch-Schonlein purpura

IgA vasculitis affecting skin & kidneys

75
Q

What is this presentation?

Tumors of:

Pancreas
Pituitary
Parathyroid

A

MEN 1 (autosomal dominant)

76
Q

What is this presentation?

Periorbital and/or peripheral edema
Proteinuria
Hypoalbuminemia
Hypercholesterolemia

A

Nephrotic syndrome

77
Q

What is this presentation?

Pink complexion
Dyspnea
Hyperventilation

A

“Pink puffer”
Emphysemia

Centriacinar: Smoking
Panacinar: a1-antitrypsin deficiency

78
Q

What is this presentation?

Polyuria
Renal tubular acidosis type 2
Growth failure
Electrolyte imbalances
Hypophosphatemic rickets
A

Fanconi’s syndrome

Proximal tubule reabsorption defect

79
Q

What is this presentation?

Positive “anterior drawer” sign

A

ACL (Anterior cruciate ligament) injury

80
Q

What is this presentation?

Pruritic, purple, polygonal planar

papules and plaques (6 P’s)

A

Lichen planus

Unknown pathology; Chronic mucucutaneous disease

81
Q

What is this presentation?

Ptosis
Miosis (pupil CONSTRICTION)
Anhydrosis

A

Horner’s Syndrome

Sympathetic chain lesion

82
Q

What is this presentation?

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil

(Neuro Syphillis)

83
Q

What is this presentation?

Rapidly progressive leg weakness that ASCENDS

following a GI infection

A

Guillan Barre
(acute autoimmune inflammatory
demyelinating polyneuropathy)

84
Q

What is this presentation?

Rash on palms and soles

A

Coxsackie A

Secondary syphillis

Rocky Mountain spotted fever (tickborne Rickettsia rickettsii)

85
Q

What is this presentation?

Recurrent colds
Unusual eczema
High serum IgE

A

Hyper-IgE syndrome
(Job’s Syndrome)…

Neutrophil CHEMOTAXIS abnormality

86
Q

What is this presentation?

Red “currant jelly” sputum

Alcoholic or diabetic patients

A

Klebsiella pneumoniae

Gram NEG, encapsulated, lactose fermenting

87
Q

What is this presentation?

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults)

Intussusception (infants)

88
Q

What is this presentation?

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast

underlying ductal adenocarcinoma

89
Q

What is this presentation?

Red urine in the morning

Fragile RBC’s

A

Paroxysmal nocturnal hemoglobinuria

Complement-induced hemolytic anemia

90
Q

What is this presentation?

Kidney: Renal cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma

A

Von Hippel-Lindau disease

Dominant VHL tumor supressor mutation

91
Q

What is this presentation?

Resting tremor
Rigidity
Akinesia
Postural instability

A

Parkinson’s

Substantia Nigra destruciton; dopamine loss

92
Q

What is this presentation?

Retinal hemorrhages w/ pale centers

A

Roth’s spots

Bacterial endocarditis

93
Q

What is this presentation?

Severe jaundice in a neonate

A

Crigler-Najjar syndrome
(Congenital UGT1A1 defect: UPD glucuronosyltransferase 1)

High unconjugated bilirubin in serum

94
Q

What is this presentation?

Severe RLQ pain w/ palpation of LLQ

A

Rovsing’s sign

Acute appendicitis

95
Q

What is this presentation?

Severe RLQ pain w/ rebound tenderness

A

McBurney’s sign

Appendicitis

96
Q

What is this presentation?

Short stature
High incidence of tumors/leukemia
Aplastic anemia

A

Fanconi’s anemia
(Genetic loss of DNA crosslink repair)

Often progresses –> AML

97
Q

What is this presentation?

Single palmar crease

A

Simian crease: Down’s Syndrome

98
Q

What is this presentation?

Situs inversus (mirrored organs)
Chronic sinusitis
Bronchiectasis
Infertility

A

Kartagener’s syndrome

dynein arm defect affecting cilia

99
Q

What is this presentation?

Skin hyperpigmentation
Hypotension
Fatigue

A

Addison’s disease
(primary adrenocortical insufficiency
–> High ACTH and high a-MSH production)

100
Q

What is this presentation?

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy
(X-linked missense mutation in dystrophin)

Less severe than Duchenne’s

101
Q

What is this presentation?

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

A

Koplik spots

Measles: Rubeola paramyxovirus

102
Q

What is this presentation?

Small, flat, moist, painless white lesions on genitals

A

Condylomata lata

secondary syphillis

103
Q

What is this presentation?

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

104
Q

What is this presentation?

“Strawberry tongue”

A

Scarlet fever
Kawasaki disease
Toxic shock syndrome

105
Q

What is this presentation?

Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth (lymph lesion on jaw)
Short stature
Webbed neck
Lymphedema
A

Turner’s syndrome (45, XO)

106
Q

What is this presentation?

Sudden swollen/painful big toe joint

Tophi

A

Gout/podagra

Hyperuricemia

107
Q

What is this presentation?

Swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

Scurvy

Vit C deficiency; can’t hydroxylate proline/lysine for collagen synthesis

108
Q

What is this presentation?

Swollen, hard, painful finger joints

A

Osteoarthritis

Osteophytes on:

PIP: Bouchard’s nodes

DIP: Heberden’s nodes

109
Q

What is this presentation?

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

110
Q

What is this presentation?

Tumors of:

Thyroid
Parathyroid
Phenochromocytoma

A

MEN 2A

Autosomal DOMINANT Ret mutation

111
Q

What is this presentation?

Tumors of:

Thyroid
Pheochromocytoma
Ganglioneuromatosis

A

MEN 2B

Autosomal DOMINANT Ret mutation

112
Q

What is this presentation?

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

113
Q

What is this presentation?

Unilateral facial drooping INVOLVING forehead

A

Facial nerve (LMN CN 7 palsy)

114
Q

What is this presentation?

In a male:

Urethritis
Conjunctivitis
Arthritis

A

Reactive arthritis

associated w/ HLA-B27

115
Q

What is this presentation?

Vascular birthmark (port wine stain)

A

Hemangioma (benign)

Associated w/ Sturge-Weber syndrome: glaucoma, seizures, mental retardation, ipsilateral leptomeningeal angioma

116
Q

What is this presentation?

Vomiting blood after gastroesophageal lacerations

A

Mallory-Weiss syndrome
(Tears at esophagus/stomach junction)

From bulimia and alcoholism

117
Q

What is this presentation?

Weight loss
Diarrhea
Arthritis
Fever
Adenopathy
A

Whipple’s disease

Tropheryma whipplei, gram POS actinobacteria, but found to be gram neg in lab staining

118
Q

What is this presentation?

“Worst headache of my life”

A

Subarachnoid hemorrhage

often a ruptured aneurysm