FA - Classic Presentations Flashcards
abd pain, ascites, hepatomeagly
Budd-chiari syndrome (post-hepatic venous thrombosis)
achilles tendon xanthoma
familial hypercholesterolemia (decr LDL receptor signaling
adrenal hemorrhage, hypotension, dic
waterhouse-friederichsen syndrome (meningococcemia)
anterior drawer sign (+)
ACL injury
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
marfan syndrome (fibrillin defect)
athlete with polycythemia
2˚ to EPO inj.
back pain, fever, night sweats, weight loss
pott disease (vertebral TB, usually at the thoracic + upper lumbar vertebrae, resulting from hematogenous spread - usually lungs)
bilateral hilar adenopathy, uveitis
sarcoidosis (non-caseating granuloma)
blue sclera
osteogenesis imperfecta (type I collagen defect)
bluish line on gingiva
burton line (lead poisoning)
bone pain, bone enlargement, arthritis
paget disease of bone (incr. osteoblastic + osteoclastic activity causes excessive breakdown and formation of bone, followed by disorganized bone remodelling. )
bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
butterfly facial rash, raynaud’s phenomenon in a young female
SLE
cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+pheochromocytoma, optic glioma)
cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright Syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
muscular dystrophy (commonly Duchenne) - X-linked recessive deletion of dystrophin gene
cherry-red spots on macula
Tay-Sachs (ganglioside accumulation) or NPC (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 (autoimmune-mediated post-MI fibrinous pericarditis, 1-2 weeks after acute episode)
child uses arm to stand up from squat
Gower’s sign (Duchenne muscular dystrophy)
child with fever later develops rash on face that spreads to body
Parvo-B19 - slapped cheeks (erythema infectiosum/5th disease)
chorea, dementia, caudate degeneration
Huntingtons (autosomal CAG repeat expansion)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency
cold intolerance
hypothyroidism