Classic Presentations Flashcards
Abdominal pain
Ascites
Hepatomegaly
Budd-Chiari syndrome
posthepatic venous thrombosis
Achilles tendon xanthoma
Familial hypercholesterolemia
dec. LDL receptor signaling
Adrenal hemorrhage
Hypotension
DIC
Waterhouse-Friderichsen syndrome
meningococcemia
Anterior “drawer sign” (+)
Anterior cruciate ligament
Arachnodactyly
Lens dislocation
Aortic dissection Hyperflexible joints
Marfan syndrome
fibrillin defect
Athlete with polycythemia
2º to erythropoietin injection
Back pain
Fever
Night sweats
Weight loss
Pott disease
vertebral TB
Bilateral hilar adenopathy
Uveitis
Sarcoidosis
noncaseating granulomas
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
Raynaud phenomenon in a young female
Systemic lupus erythematosus
Cafe-au-lait spots Lisch nodules (iris hamartoma)
Neurofibromatosis type I
+ pheochromocytoma, optic glioma
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities
McCune-Albright syndrome
mosaic G-protein signaling mutation
Calf pseudohypertrophy
Muscular dystrophy
(MC: Duchenne): X-linked recessive deletion of dystrophin gene
“Cherry red spots” on macula
Tay-Sachs (ganglioside accumulation) or
Niemann-Pick (sphingommyelin accumulation)
Central retinal artery occlusion
Chest pain on exertion
Angina
stable: with moderate exertion; unstable: with minimal exertion
Chest pain
Pericardial effusion/friction rub
Persistent fever ff. MI
Dressler syndrome
autoimmune mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode
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
Chronic exercise intolerance Myalgia Fatigue Painful cramps Myoglobinuria
McArdle disease
muscular glycogen phosphorylase deficiency
Cold intolerance
Hypothyroidism