Classic Presentations III Flashcards Preview

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Flashcards in Classic Presentations III Deck (24):
1

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in collagen IV)

2

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluber-Bucy syndrome (bilateral amygdala lesion)

3

Hyperreflexia, hypertonia, babinski sign present

UMN damage

4

Hyporefelxia, hypotonia, atrophy, fasciculations

LMN damage

5

Hypoxemia, polycythemia, hypercapnia

"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

6

Indurated, ulcerated genital lesion

Nonpainful: chancre (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

7

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

Niemann-Pick disease (genetic sphingomyelinase deficiency)

8

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

Patau syndrome (Trisomy 13)

9

Infant with hypoglycemia, hepatomegaly

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

10

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

Edwards syndrome (Trisomy 18)

11

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal obstruction of biliary tree)

12

Large rash with bull's-eye appearance

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

13

Lucid interval after traumatic brain injury

Epidural hematoma (Middle meningeal artery rupture)

14

Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

15

Mucosal bleeding and prolonged bleeding time

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

16

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

17

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

Gardner syndrome (Subtype of FAP)

18

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

19

Neonate with arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "Waiter's tip")

20

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (pituitary infarction)

21

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

22

Painful blue fingers/toes, hemolytic anemia

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

23

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

Raynaud's phenomenon (vasospasm in extremities)

24

Painful, raised red lesions on pads of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)