classic presentations Flashcards
abdominal pain, ascites, hepatomegaly
Budd-Chiara syndrome (post hepatic venous thrombosis)
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. diff infection
achilles tendon xanthoma
familial hypercholesterolemia (decreased LDL receptor signaling)
adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
anaphylaxis following blood transfusion
IgA deficiency
Positive anterior drawer sign
anterior cruciate ligament injury
arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillar defect)
athlete with polycythemia
secondary to erythropoietin injections
back pain, fever, night sweats
Post 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 1 collagen defect)
bluish line on gingiva
Burton line (lead poisoning)
bone pain, bone enlargement, arthritis
Paget disease of bone (increased 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 erthematosus
cafe-au-lait spots, Lisch nodes (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas
neurofibromatosis type 1
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, hand-foot changes
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 weeks to several months after acute episode)