Classic Presentations Flashcards
(107 cards)
Abdominal Pain, Ascites, Hepatomegaly
Budd-Chiari Syndrome (Post hepatic venous thrombosis)
Achilles Tendon Xanthoma
Familial Hypercholesterolemia (Decreased LDL Receptor Signaling)
Adrenal Hemorrhage, Hypotension, DIC
Waterhouse-Friderichsen Syndrome (meningococciemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s Syndrome (fibrillin defect)
Autosomal Dominant
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott’s Disease
vertebral tuberculosis
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue Sclera
Osteogenesis imperfecta (type I collagen defect)
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, diastolic heart murmur, head bobbing
Aortic Regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
Systemic Lupus Erythematosus
Café-au-lait spots, lisch nodules (iris harmartomas)
NF-1 (+pheochromocytoma, optic gliomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf-Pseudohypertrophy
Muscular Dystrophy (most common Duschenne’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: with moderate exertion; unstable: with minimal exertion)
Chest Pain, pericardial effusion/friction rub. persistent fever following MI
Dressler’s Syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower’s 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’s Disease (autosomal-dominant CAG repeat expansion)
Chronic Exercise intolerance with myalgia, fatigue, painful cramps myoglobinuria
McArdle’s Disease (muscle glycogen phosphorylase deficiency)
Cold Intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [Stroke])