Abdominal pain, ascites, hepatomegaly. Disease/Dx?
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma. Disease/Dx?
Familial hypercholesterolemia (dec LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC. Disease/Dx?
Waterhouse-Friderichsen syndrome (meningococcemia)
Anterior "drawer sign" (+). Disease/Dx?
Anterior cruciate ligament injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints. Disease/Dx?
Marfan syndrome (fibrillin defect)
Athlete with polycythemia. Disease/Dx?
2° to erythropoietin injection
Back pain, fever, night sweats, weight loss. Disease/Dx?
Pott disease (vertebral TB)
Bilateral hilar adenopathy, uveitis. Disease/Dx?
Sarcoidosis (noncaseating granulomas)
Blue sclera. Disease/Dx?
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva. Disease/Dx?
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis. Disease/Dx?
Paget disease of bone (inc osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing. Disease/Dx?
Butterfly facial rash and Raynaud phenomenon in a young female. Disease/Dx?
Systemic lupus erythematosus
Café-au-lait spots, Lisch nodules (iris hamartoma). Disease/Dx?
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities. Disease/Dx?
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy. Disease/Dx?
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
Cherry-red spots on macula. Disease/Dx?
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion. Disease/Dx?
Angina (stable: with moderate exertion; unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI. Disease/Dx?
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat. Disease/Dx?
Gowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body. Disease/Dx?
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration. Disease/Dx?
Huntington disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria. Disease/Dx?
McArdle disease (muscle glycogen phosphorylase deficiency)
Cold intolerance. Disease/Dx?
Conjugate lateral gaze palsy, horizontal diplopia. Disease/Dx?
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous "machine-like" heart murmur. Disease/Dx?
PDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition. Disease/Dx?
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
Dark purple skin/mouth nodules in a patient with AIDS. Disease/Dx?
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilation. Disease/Dx?
Kussmaul respirations (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea. Disease/Dx?
Pellagra (niacin [vitamin B3] deficiency)