Classic Presentations Flashcards
Budd-Chiari syndrome
posthepatic venous thrombosis (abdominal pain, ascites, hepatomegaly)
Familial Hypercholesterolemia (decreased LDL receptor signaling)
achilles tendon xanthoma
Waterhouse-Friderichsen Syndrome (meningococcemia)
adrenal hemorrhage, hypotension, DIC
ACL injury
Anterior “drawer sign” +
Marfan syndrome (fibrillin defect)
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Secondary to erythropoietin injection
athlete with polycythemia
Pott disease (vertebral TB)
Back pain, fever, night sweats, weight loss
Sarcoidosis (noncaseating granulomas)
bilateral hilar adenopathy, uveitis
Osteogenesis imperfecta (type I collagen defect)
blue sclera, multiple fractures
Burton line (lead poisoning)
bluish line on gingiva
Paget disease of bone (increased osteoblastic and osteoclastic activity)
bone pain, bone enlargement, arthritis
Aortic regurgitation
bounding pulses, diastolic murmur, head bobbing
Systemic Lupus Erythematosus
“butterfly” facial rash, Reynaud phenomenon in a young female
Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)
Cafe-au-lait spots, Lisch nodules (iris hamartomas)
McCune-Albright Syndrome (mosaic G protein signaling mutation)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Muscular dystrophy (usually Duchenne); X-linked recessive deletion of dystrophin gene
calf pseudohypertrophy
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation); central retinal artery occlusion
Cherry red spots on macula
Angina (stable: with moderate exertion; unstable: with minimal exrertion)
Chest pain on exertion
Dressler syndrome (autoimmune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Gower’s sign (Duchenne muscular dystrophy)
Child uses arms to stand up from squat
“Slapped Cheeks” (erythema infectiousu/5th disease; parvovirus B19)
Child with fever later develops red rash on face that spreads to body
Huntington disease (autosomal dominant CAG repeat expansion)
Chorea, dementia, caudate degeneration
McArdle Disease (muscle glycogen phosphorylase deficiency)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Hypothyroidism
Cold intolerance
Internuclear ophthalmoplegia (damage to MLF; bilateral-MS; unilateral-stroke)
Conjugate lateral gaze palsy, horizontal diplopia
PDA (close with indomethacin; open or maintain with misoprostol)
Continuous “machine-like” heart murmur
Myxedema (caused by hypothyroidism, Graves disease (pretibial))
Cutaneous/dermal edema due to connective tissue deposition
Kaposi sarcoma, associated with HHV8
dark purple skin/mouth nodules in a patient with AIDS
Kussmaul respirations (diabetic ketoacidosis)
deep, labored breathing/hyperventilation
Pellagra (niacin/Vit B3 deficiency)
dermatitis, dementia, diarrhea
Wet beriberi (thiamine/Vit B1 deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition