Classic Presentations 1 Flashcards
Abdominal pain, ascites, hepatomegaly?
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma?
Familial hypercholesterolemia (low LDL receptor signaling)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints?
Marfan’s (fibrillin defect)
Athlete with polycythemia?
Secondary to EPO injection
Back pain, fever, night sweats, weight loss?
Pott’s dz (vertebral TB)
Bilateral hilar adenopathy, uveitis?
Sarcoidosis (noncaseating 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 (increase in osteblast and osteoclast activity)
Bounding pulses, diastolic heart murmur, head bobbing?
Aortic regurg
“Butterfly” facial rash and Raynaud’s in a young female?
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)?
NF type I (+ pheochromocytoma, optic gliomas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty; multiple endocrine abnormalities?
McCune Albright (mosaic G-protein signaling mutation)
Calf pseudohypertrophy?
DMD (X-linked recessive deletion of dystrophin gene)
Cherry red spot on macula?
Tay-Sachs (ganglioside accumulation) or Nieman Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion?
Angina (moderate: with moderate exertion; unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI?
Dressler’s (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat?
Gower’s sign (DMD)
Child with fever later develops red rash on face that spreads to body?
“Slapped cheeks” (erythema infectiosum/fifth dz: parvovirus B19)
Chorea, dementia, caudate degeneration?
Huntington’s (autosomal dominant CAG repeat expansion)
