Classic Presentations III Flashcards

1
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

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2
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluber-Bucy syndrome (bilateral amygdala lesion)

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3
Q

Hyperreflexia, hypertonia, babinski sign present

A

UMN damage

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4
Q

Hyporefelxia, hypotonia, atrophy, fasciculations

A

LMN damage

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5
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

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6
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1° syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

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7
Q

Infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

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8
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (Trisomy 13)

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9
Q

Infant with hypoglycemia, hepatomegaly

A
Cori disease (debranching enzyme deficiency)
or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
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10
Q

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

A

Edwards syndrome (Trisomy 18)

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11
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

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12
Q

Large rash with bull’s-eye appearance

A

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

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13
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (Middle meningeal artery rupture)

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14
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

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15
Q

Mucosal bleeding and prolonged bleeding time

A

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

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16
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

17
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumary teeth

A

Gardner syndrome (Subtype of FAP)

18
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (Lysosomal alpha-1,4-glucosidase deficiency)

19
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “Waiter’s tip”)

20
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

21
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

22
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infections mononucleosis, CLL)

23
Q

Painful fingers/toeschangin color from blue to white to red with cold or stress

A

Raynaud’s phenomenon (vasospasm in extremities)

24
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)