Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari Syndrome (posthepatic venous sinus thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decrease LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfans syndrome (fibrillin defect)
Athlete with polycythemia
2* 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 (increase osteoblastic & 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
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright Syndrome (mosaic G-protein signaling mutation)
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion dystrophin gene
“Cherry-red spot” on macula
Tay-Sachs (ganglioside acculation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain upon exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistant fever following MI
Dressler’s Syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks 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 infectious/fifth disease: parvovirus 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)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous, “machinery” heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave’s disease [pretibial])
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS patients [MSM]: associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellegra (niacin [vit B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vit B1] deficiency)