Classic Presentation 2 Flashcards

0
Q

Large rash with bull’s eye appearance

A

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

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1
Q

Infant with microcephaly
Rocker bottom feet
Clenched hands
Structural heart defect

A

Edward’s syndrome

Trisomy 18

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2
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma

Middle meningeal artery

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3
Q

Male child
Recurrent infections
No mature B cells

A

Brutton’s disease

X-linked agammaglobulinemia

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4
Q

Mucosal bleeding

Prolonged bleeding time

A

Glanzmann’s thrombasthenia

Defect in platelet AGGREGATION due to lack of GpIIb/IIIa

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5
Q

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

A

Gardner’s syndrome

Subtype of FAP

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6
Q

Myopathy (infantile hypertrophic cardiomyopathy)

Exercise intolerance

A

Pompe’s disease

Lysosomal alpha-1,4-glucosidase deficiency

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7
Q
Necrotizing vasculitis (lungs) 
Necrotizing glomerulonephritis
A

Wegener’s (c-ANCA positive)

Goodpasture’s syndromes (anti-GBM antibodies)

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8
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (c5-c6) brachial plexusinjury (waiter’s tip)

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9
Q

No lactation postpartum
Absent menses
Cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

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10
Q

Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear ophthalmoplegia

A

MS

Type IV HYPERSENSITIVITY

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11
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations
(Central apnea in
CHF or increased ICP)

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12
Q

Painful blue fingers or toes

Hemolytic anemia

A

Cold aggluinin disease

(AIHA (type II) caused by mycoplasma pneumoniae, infectious mononucleosis

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13
Q

Painful, pale cold fingers/toes

A

Raynaud’s syndrome

Vasospasm in extremities

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14
Q

Painful RAISED red lesions on palms and soles

A

Osler’s nodes (infective endocarditis)

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15
Q

PAINLESS, erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

16
Q

Painless jaundice

A

Cancer of pancreatic head obstructing bile duct

17
Q

Palpable purpura on
Buttocks, legs
Joint pain
Abdominal pain(child)

A

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

18
Q

Pancreatic
Pituitary
Parathyroid tumors

A

MEN I

AUTOSOMAL DOMINANT

19
Q

Pink complexion
Dyspnea
Hyperventilation

A

“Pink puffer”
Emphysema
Centroacinar: smoking
Panacinar: alpha 1-antitrypsin def

20
Q

Polyuria
Acidosis
Growth failure
Electrolyte imbalances

A

Fanconi’s syndrome

Proximl tubule reabsorption defect

21
Q

Positive anterior “drawer” sign

A

Anterior cruciate ligament ACL injury

22
Q

Ptosis
Anhidrosis
Miosis

A

Horner’s syndrome

Sympathetic chain lesion