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FA Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abdominal Pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal Pain, diarrhea, leukocytosis, recent antibiotic use

A

C diff

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3
Q

Achilles tendon xanthoma

A

familial hypercholesterolemia (decreased LDL receptor (bind ApoB100) signaling

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4
Q

Adrenal Hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

anterior drawer sign +

A

ACL (anterior cruciate ligament) injury

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7
Q

arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A
  • Marfan syndrome (fibrillin defect)

- mutation of FBN1 gene on Ch15

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8
Q

Athlete with polycythemia

A

secondary EPO injection

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9
Q

back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

bilateral acoustic schwannomas

A
  • NF2

- Mutation of tumor suppressor gene NF2, on chromosome 22, which produces Merlin (schwannomin) protein

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11
Q

bilateral hilar adenopathy, uveitis (red, painful eye with blurry vision)

A

sarcoidosis (noncaseating granulomas)

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12
Q

black eschar on face of patient with DKA

A

Mucor or Thizopus fungal infection

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13
Q

blue sclera

A
  • Osteogenesis Imperfecta Type 1
  • MC gene defects: COLIA1, COLIA2
  • MC form AD, with decreased production of otherwise normal T1 collagen
  • Sx: multiple fractures with minimal trauma; may occur at birth (may be confused with child abuse)
  • blue sclera due to translucent CT over choroidal veins
  • some forms have teeth abnormalities including opalescent teeth that wear easily (due to lack of dentin = dentinogenesis imperfecta)
  • hearing loss (abnormal ossicles)
  • “Patients can’t BITE”: Bones; I (eye); Teeth; Ear
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14
Q

bluish line on gingiva

A

burton line (lead poisoning)

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15
Q

bone pain, bone enlargement, arthritis

A
  • pagets disease (aka osteitis deformans) of one (increased osteoblastic and osteoclastic activity)
  • increased osteoclastic activity followed by increased (disorganized) osteoblastic activity -> poor quality bone
  • mosaic pattern of woven and lamellar bone (osteocytes within lacunae in chaotic juxtapositions)
  • serum Ca, phosphorus, PTH NORMAL
  • Increased ALP

Sx:

  • long bone chalk-stick fractures
  • increased blood flow from increased AV shunts may –> high-output heart failure
  • increased risk of osteogenic sarcoma
  • hat size increased due to skull thickening
  • hearing loss is common due to auditory foramen narrowing

Stages:

  • lytic (osteoclasts)
  • mixed (osteoclasts + blasts)
  • sclerotic (osteoblasts)
  • quiescent (minimal osteoclast/osteoblast activity)

Tx: bisphosphonates

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16
Q

Bounding Pulse, wide PP, diastolic heart murmur, head bobbing

A

Aortic regurgitation

17
Q

butterfly facial rash and raynaud phenomenon in young female

A
  • SLE
  • “RASH OR PAIN”
  • Rash (T3) malar or discoid
  • Arthritis (nonerosive, T3) deposit in joints, doesn’t cause joint deformity
  • Serositis (T3): pericarditis, pleuritis
  • Hematologic disorders (ie cytopenias = T2)
  • Oral/nasopharyngeal ulcers
  • Renal disease (T3): diffuse proliferative glomerulonephritis (T4 nephritic): immune complexes in subendothelium –> thick walls, crescent formation and wire-looping
  • Photosensitivity
  • Antinuclear antibodies
  • Immunologic disorder (anti-dsDNA, Anti-Sm, antiphospholipid) decreased C3, C4 and CH50 due to immune complex formation
  • Neurologic disorders (T3): seizures, psychosis

Tx: NSAIDS, steroids, immunosuppressants, hydroxychloroauine

18
Q

cafe-au-lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A
  • NFT1

- mutation of NF1 gene (tumor suppressor gene) on Ch 17 (along with BRCA and p53)

19
Q

unilateral cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A
  • McCune- Albright sydrome (mosaic G-protein signaling mutation)
  • the cafe-au-lait spots have ragged edges
  • lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism
20
Q

calf pseudohypertrophy

A
  • muscular dystrophy (MC Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
21
Q

Cervical lymphadenopathy, desquamanating rash, coronary aneurysms, red cunujunctivae, and tongue, hand-foot changes

A
  • Kawasaki disease (treat with IVIG and aspirin)
22
Q

Cherry-red spots on macula

A

Tay-Schs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

23
Q

Chest pain on exhertion

A

angina (stable: with moderate exertion; unstable: pain with minimal exertion or at rest)

24
Q

chest pain, pericardial erffusion/friction rub, persistent fever following MI

A

Dressler syndrome (AI-mediated post-MI fibrinous pericarditis. 2w-several months after acute episode)

FA Rapid Review (4 decks)

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