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25 terms

clinical presentation and Dx

Common clinical presentations and their Dx/Disease process
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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 syndrome (fibrillin defect
athlete with polycythemia
erythropoietin injection
back pain, fever, night sweats, weight loss
Pott's disease (vertebral tuberculosis)
bilateral hilar adenopathy, uveitis
sarcoidosis (noncaseating granulomas)
blue sclera
osteogenesis imperfecta (collagen defect)
bluish line on gingiva
Burton's line (lead poisoning)
bone pain, bone enlargement, arthritis
Paget's disease of bone (increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
"butterfly" facial rash and Raynaud's phenomenon in a young female
systemic lupus erythematosis
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
muscular dystrophy (most commonly Duchennes): 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: moderate exertion; unstable: minimal exertion)
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's syndrome (autoimmune 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 with fever develops red rash on face that spreads to body
"slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
chorea, dementia, caudate degeneration
Huntington's disease (autosomal dominant CAG repeat expansion)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle's disease (muscle glycogen phosphorylase deficiency)
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis] unilateral [stroke])
continuous "machinery" heart murmur
PDA (close with indomethacin; open with misoprostol)