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 (dec. LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friedrichsen syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior “drawer sign” positive
Anterior Cruciate ligament injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweats
Pott disease (vertebral TB)
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Bilateral hilar adenopathy, 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 (inc. osteoblastic and osteoclastic activity)
Bounding pulses, 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 hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type I, pheochromocytoma, optic gliomas
Café-Au-Lait spots (unilateral), polystotic 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
Kawasaki disease (treat with IVIG and aspirin)
“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 or at rest)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
Chest pain with ST depressions on EKG
Unstable angina (troponins –) or NSTEMI (troponins +)
Child uses arms to stand up from squat
Gowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)