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Common clinical presentations and their Dx/Disease process

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


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)

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