Classic Presentations Flashcards
Abdominal Pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abdominal Pain, diarrhea, leukocytosis, recent antibiotic use
C diff
Achilles tendon xanthoma
familial hypercholesterolemia (decreased LDL receptor (bind ApoB100) signaling
Adrenal Hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
anaphylaxis following blood transfusion
IgA deficiency
anterior drawer sign +
ACL (anterior cruciate ligament) injury
arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
- Marfan syndrome (fibrillin defect)
- mutation of FBN1 gene on Ch15
Athlete with polycythemia
secondary EPO injection
back pain, fever, night sweats
Pott disease (vertebral TB)
bilateral acoustic schwannomas
- NF2
- Mutation of tumor suppressor gene NF2, on chromosome 22, which produces Merlin (schwannomin) protein
bilateral hilar adenopathy, uveitis (red, painful eye with blurry vision)
sarcoidosis (noncaseating granulomas)
black eschar on face of patient with DKA
Mucor or Thizopus fungal infection
blue sclera
- 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
bluish line on gingiva
burton line (lead poisoning)
bone pain, bone enlargement, arthritis
- 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
Bounding Pulse, wide PP, diastolic heart murmur, head bobbing
Aortic regurgitation
butterfly facial rash and raynaud phenomenon in young female
- 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
cafe-au-lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
- NFT1
- mutation of NF1 gene (tumor suppressor gene) on Ch 17 (along with BRCA and p53)
unilateral cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
- 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
calf pseudohypertrophy
- muscular dystrophy (MC Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamanating rash, coronary aneurysms, red cunujunctivae, and tongue, hand-foot changes
- Kawasaki disease (treat with IVIG and aspirin)
Cherry-red spots on macula
Tay-Schs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exhertion
angina (stable: with moderate exertion; unstable: pain with minimal exertion or at rest)
chest pain, pericardial erffusion/friction rub, persistent fever following MI
Dressler syndrome (AI-mediated post-MI fibrinous pericarditis. 2w-several months after acute episode)
