Classic Presentations 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-Friedrechsen syndrome (meningococcemia)
Anterior “drawer sign” +
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfans (fibrillin defect)
Athlete with polycythemia
2ndary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott Disease (vertebral TB)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granuloma)
Blue sclera
OI (type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (increase osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurg
“Butterfly” facial rash and Raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartomas)
Neurofibromatosis Type I (+pheocrhomocytome, optic gliomas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf psuedoypertrophy
Muscular Dystrophy (Duchenne): XLR deletion of dystrophin gene
“Cherry red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (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 (AI mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gowers sign (DMD)
Child with fever later develops red rash on face that spread to body
Slapped cheeks, roseola (erythema infectious/fifth disease: parvo B19)
Chorea, dementia, caudate degeneration
Huntington Dz (AD CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle dz (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke])
Continuous machine like murmur
PDA (close with indomethacin; open or maintain with misoprostol)
Cuntaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, graves dz [pretibial])
