Classic presentations Flashcards
Abdominal pain, ascites, and hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficle infection.
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, and DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior drawer sign
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, and 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, and arthritis
Paget disease of bone (increased osteoblastic and osteoclastic activity).
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash and Raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas, pheochromocytoma, and optic gliomas
Neurofibromatosis type 1, pheochromocytoma, optic gliomas.
Cafe-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
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 if it occurs with moderate exertion; untable 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 an acute episode).