CLASSIC PRESENTATIONS Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
Achilles tendon xanthoma
Familial hypercholesterolemia (↓ LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior “drawer sign” +
Anterior cruciate ligament injury
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
2º to erythropoietin injection
Back pain, fever, night sweats
Pott disease (vertebral TB)
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Bilateral hilar adenopthy, uveitis
Sarcoidosis (noncaseating granulomas)
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
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 (↑ osteoblastic and osteoclastic activity)
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type I
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Kawasaki disease (treat with IVIG and aspirin)
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation) or Riemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
Chest pain with ST depression on EKG
Unstable angina (- troponins) or NSTEMI (+ troponins)
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gowers sign)
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
