Classic presentations/labs/path findings 1st aid Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari Syndrome-occlusion of IVC/hepatic veins
Achilles tendon xanthoma
Familial Hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Fredrichsen Syndrome (neisseria meningiditis)
Arachnodactyly, lens discoloration, aortic dissection, hyperflexible joints
Marfan Syndrome (fibrillin defect)
Back pain, fever, night sweats, weight loss
Pott’s Disease (TB)
Bilateral hilar adenopathy, uveitis, noncaseating granulomas
Sarcoidosis
Blue sclera
osteogenesis imperfecta (type 1 collagen)
Blue line on gingiva
Burton’s line-lead poisoning
Bone pain, bone enlargement, arthritis, chalkstick fractures
Pagets Disease of bone
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash, Raynaud’s in female
SLE
Cafe au lait spots, Lisch nodules (iris hamartoma)
NF type 1
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune Albright syndrome- mosaic G-protein signaling mutation
Calf pseudohypertrophy
duchenne muscular dystrophy-X linked recessive mutation of dystrophin
Cherry red spot on macula
Neimann Pick (sphingomyelin accumulation) or Tay Sachs (ganglioside accumulation) or central retinal artery occlusion
chest pain, pericardial effusion/friction rub, persistent fever following an MI
Dressler syndrome (autoimmune post-MI fibrinous pericarditis)
Child used arms to stand up from squat
Gower sign-DMD
Child with fever, develops red rash on face
Slap cheek fever- Parvovirus B19 (erythema infectiosum, 5th disease)
Chorea, dementia, caudate degeneration
Huntington Disease- CAG repeats
Exercise intolerance with myalgia, fatigue, painful cramps and myoglobinuria
McArdle’s Disease (muscle glycogen phosphorylase deficiency)
Conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF) bilateral= MS, unilateral=stroke
continuous machinery murmur
PDA-can close with indomethacin, keep open with misopristol
cutaneous dermal edema due to connective tissue deposition
myxedema
Dark purple skin/mouth nodules
Kaposi Sarcoma HHV8