Classic Presentations 1 Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal Hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s Syndrom (fibrillin defect)
Athlete w/ polycythemia
Secondary to EPO injections
Back pain, fever, night sweats, weight loss
Pott’s Disease (vertebral TB)
Bilateral hilar adenopathy, weight loss
Sarcoidosis (non caseating granulomas)
Blue sclera
Osteogenesis Imperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s line, lead poisoning
bone pain, bone enlargement, arthritis
Paget’s Disease (Increase in OB and OC activity)
bounding pulses, diastolic heart murmur, head bobbing
Aortic Regurgitation
Butterfly facial rash, raynaud’s phenomenon, young female
SLE
cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune Albright syndrome (mosaic g-protein signaling mutation)
cafe au lait spots, lisch nodules (iris hamartoma)
NF-1 (+ pheochromocytoma + optic gliomas)
calf psudohypertrophy
Muscular dystrophy (most commonly Duchenne’s) X-Linked recessive deletion of dystrophin gene
Cherry red spot on macula
Tay Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation) central retinal artery occlusion
chest pain on exertion
Angina (stable w/ moderate exertion, unstable w/ minimal exertion)
chest pain, pericardia friction rub, pericardial effusion, persistent fever post MI
Dressler’s syndrome (auto-immune mediated post MI fibrinous pericarditis, 1-12 weeks after MI)
child sues arms to stand up from squat
Gower’s Sign (Duchenne muscular dystrophy)
child with fever later develop red raw on face that spreads to body “slapped cheek rash”
Parvovirus B19, erythema infectiosum/5th disease)
chorea, dementia, caudate degeneration
Huntington’s Disease (AD, CAG repeat)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (mm glycogen phosphorylase deficiency)
Cold intolerance
hypothryroidism
conjugate lateral gaze palsy, horizontal diploplia
internuclear ophthalmoplegia (damage to MLF; bilateral MS or unilateral stroke)