Classic Presentations A--L Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari Syndrome (posthepatic veinous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Anterior “drawer” sign
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete w/ polycythemia
2/2 EPO injection
Back pain, fever, night sweats, weight loss
Pott disease (vertebral TB)
Bilateral hilar lymphadenopathy, uveitis
sarcoidosis (non caseating granulomas)
Blue sclera
osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (incr osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
“butterfly” facial rash and raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
NF Type 1 (+pheochromocytoma, optic gliomas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
muscular dystrophy (most commonly Duchenne): x-linked recessive deletion of dystrophin gene
“cherry red spots” on macula
Tay sachs (ganglioside accumulation) or Niemann-pick (sphingomyelin accumulation), central retinal artery occlusion
chest pain on exertion
angina (stable: with moderate exertion; unstable: with minimal exertion)
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (auto-immune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower’s sign (Duchenne muscular dystrophy)
Child w/ fever later develops red rash on face that spreads to body
“slapped cheeks” (erythema infectiosum/5th disease; parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency)
cold intolerance
Hypothyroidism