Classic Presentation Flashcards
Achilles tendon xanthoma
Familial hypercholesterolemia
Decreases LDL signaling
Abdominal pain
Ascites
Hepatomegaly
Budd-Chiari syndrome
Posthepatic venous thrombosis
Adrenal hemorrhage
Hypotension
DIC
Waterhouse-Friedrichsen syndrome (meningococcemia)
Arachnodactyly Lens dislocation Aortic dissection Hyperflexible joints Fibrillin defect
Marfan’s syndrome
Athlete with polycythemia
EPO INJECTION
Back pain
Fever
Nightsweats
Weight loss
Pott’s disease
Vertebral tuberculosis
Bilateral hilar lymphadenopathy
Uveitis
Sarcoidosis
Noncaseating granulomas
Blue sclera
Osteogenesis imperfecta
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain
Bone enlargement
Arthritis
Paget’s disease of bone
Increased osteoblastic and osteoclastic activity
Bounding pulses
Diatolic heart murmur
Head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
SLE
Cafe au lait spots Lisch nodules (iris hamartoma)
Neurofibrimatosis I ( + pheochromocytoma, optic gliomas)
Neurofibromatosis II (+ bilateral acoustic neuromas)
Cafe au lait spots
Polyostotic fibrous dysplasia
Precocious puberty
McCune-Albright syndrome
Mosaic G-protein signaling mutation
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne's) X-linked RECESSIVE deletion of DYSTROPHIN gene
“Cherry red spot” on macula
Tay-Sachs (ganglioside accumulation)
Or
Niemann-Pick (sphingomyelin accumulation)
Central Retinal Artery Occlusion
Chest pain on exertion
Angina
Stable: moderate exertion; unstable: minimal exertion
Chest pain
Pericardial effusion/friction rub
Persistent fever following MI
Dressler’s syndrome
(Autoimmune-mediated post MI fibronous pericarditis,
1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower’s sign
DMD
Child with fever develops red rash on face that spreads to body
“Slapped cheeks”
Erythema infectiosum/5th disease
Parvovirus B-19
Chorea
Dementia
Caudate degeneration
Huntington’s disease
Autosomal dominant CAG repeat expansion
Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria
McArdle’s disease
Muscle glycogen phosphorylase deficiency